Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644
Current issue
Showing 1-12 articles out of 12 articles from the selected issue
Policy Forum
  • Yueqiang Wang, Duo Chen, Jiangjiang He
    2019 Volume 8 Issue 4 Pages 226-230
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    The Drug Administration Law of the People's Republic of China (amended in August 2019) is a major piece of legislation governing drug administration in China. This law seeks to improve health legislation; to achieve this, it defines the concepts of fake drugs and inferior drugs and their differences, it emphasizes the regulation of reliability, it standardizes online drug sales, it encourages technological innovation, and it specifies legal liability and punishment through legislative amendments. The Drug Administration Law is characteristic of responsive legislation, and it guarantees a right to health for citizens. The law provides for priority review and approval of new drugs for diseases like rare diseases, it encourages the domestic manufacturing and development of new drugs for rare diseases, and it provides a firm legal basis for medications to treat rare diseases under the Healthy China strategy.

    Download PDF (250K)
Review
  • Nathaly Garzón-Orjuela, Laura van der Werf, Laura Catalina Prieto-Pint ...
    Type: review-article
    2019 Volume 8 Issue 4 Pages 231-238
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Generalized myasthenia gravis (GMG) is a neuromuscular transmission disorder that creates a fluctuating weakness of the voluntary muscles. This study is aimed at understanding the effect that refractory GMG has on the quality of life of patients who suffer from it, and the effect of eculizumab on it. A systematic literature search was conducted in MEDLINE (Ovid), EMBASE and the Cochrane Database of Systematic Reviews (Ovid). Eligibility criteria were verified via the title and summary and afterward through the full text. The risk of bias of the included randomized clinical trials was evaluated and the data were synthesized in a descriptive manner. Nine studies were identified that evaluated the quality of life of patients with GMG. Regarding the effect of eculizumab, two studies were identified. The quality of life in patients with GMG is lower compared to ocular myasthenia gravis (MG) and MG in remission, especially in the domains of physical function, physical role, bodily pain, vitality, and social function. Patients treated with eculizumab had a better perception of their quality of life compared to those who received placebo. GMG affects the quality of life more than other types of MG. This outcome is of great importance for the choice of therapeutic options in patients with refractory GMG. Eculizumab generates improvements in the perception of patients' quality of life compared to placebo, making it a relevant therapeutic option in the management of refractory GMG.

    Download PDF (453K)
Original Articles
  • Kota Ishii, Ichiro Abe, Wataru Kameda, Kaoru Sugimoto, Yusuke Morinaga ...
    Type: research-article
    2019 Volume 8 Issue 4 Pages 239-244
    Published: November 30, 2019
    Released: January 12, 2020
    [Advance publication] Released: November 25, 2019
    JOURNALS FREE ACCESS

    Recent advances in imaging technology resulted in an increase in pituitary incidentalomas (PIs) detection. PIs were reported to be present in 1.6% persons with magnetic resonance imaging of the brain. Whereas, there were few studies about PIs with detailed investigation. We aimed to investigate the clinical and endocrinological characteristics of PIs. We evaluated 65 patients diagnosed with PIs who underwent detailed clinical and endocrinological evaluations. Of the 65 patients, 33 (50.8%) had non-functional pituitary adenomas (NFPAs), 11 (16.9%) had Rathke's cleft cysts (RCCs), 7 (10.8%) had functional pituitary adenomas (FPAs), 6 (9.2%) had benign extra-pituitary tumors (BEPTs), and 8 (12.3%) had malignant tumors (MTs). Compared with patients with NFPAs, those with MTs were significantly younger and had a significantly lower body mass index, lower prevalence of hypertension, and lower prevalence of dyslipidemia. Patients with MTs had significantly higher prevalence of central diabetes insipidus than those with NFPAs. In addition, patients with NFPAs had significantly higher prevalence of pituitary apoplexy than those with FPAs, BEPTs, and MTs. In conclusion, our study demonstrated clinical and endocrinological characteristics of PIs. Highly detailed clinical and endocrinological investigations should be performed for PIs. In addition, MTs should be considered in the differential diagnosis for young and lean patients with central diabetes insipidus.

    Download PDF (327K)
  • Gautham Krishnamurthy, Aravind Menon, Kumaresan Kannan, Suhasini Praka ...
    Type: research-article
    2019 Volume 8 Issue 4 Pages 245-251
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Coronary artery disease (CAD) patients might have concomitant mesenteric artery stenosis (MAS). Identification of risk factors predicting mesenteric artery involvement might guide screening high risk individuals. A dilemma of intervention in radiologically severe MAS exists. This prospective study included CAD patients undergoing a coronary angiogram. A concomitant mesenteric angiogram was performed to diagnose MAS. Clinically relevant MAS (CR-MAS) was defined as i) presence of classical mesenteric angina with any degree of MAS or ii) severe stenosis (> 70%) involving two or more vessels. Risk factors for CR-MAS were studied and followed up prospectively. One hundred and three patients were included in the study. Left anterior descending artery was the most common involved coronary artery and was affected in 73% (n = 76). Mesenteric angiogram revealed 42.7% (n = 44) to have MAS. CR-MAS was present in 21 patients (20.4%). Involvement of celiac axis, superior mesenteric artery and inferior mesenteric artery was 22, 39 and 15 respectively. Multivariate analysis showed mesenteric angina (p < 0.01), diabetes mellitus (p < 0.01) and peripheral artery disease (p < 0.01) to be independent predictors of CR-MAS. At a median follow-up of 36 months (range 29-48 months), there was no acute mesenteric ischemia. In patients with CR-MAS, 16 (76.2%) had symptomatic improvement and 5 (23.8%) had stable symptoms. Three patients underwent angioplasty of superior mesenteric artery for persistent symptoms. Chronic CAD patients had a high prevalence of MAS. Mesenteric angina, diabetes mellitus and peripheral artery disease are independent predictors of CR-MAS. Intervention for MAS should be dictated by symptoms and not radiological severity. Lifestyle modification and medication for atherosclerotic ischemic heart disease probably prevents acute mesenteric ischemia in CAD patients.

    Download PDF (824K)
  • Jan Domaradzki, Dariusz Walkowiak
    2019 Volume 8 Issue 4 Pages 252-259
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    While genetics constitutes an important part of medical education, one can observe a lack of knowledge about rare diseases (RD) among medical students and healthcare professionals. Meanwhile, many RD are life threatening and chronically debilitating conditions that significantly reduce patients' quality of life. Most RD patients experience various psychiatric symptoms, behavioral changes and mental retardation. Consequently, physicians should be educated on RD. Thus, the aim of this paper is to assess the knowledge about RD among future physicians. The study was conducted among 346 medical students of Poznan University of Medical Sciences. It showed that while 99.4% of respondents had heard the term 'rare disease' and 90.5% knew its main cause, only 11.5% correctly estimated the prevalence of RD. Moreover, only 35.3% knew what percentage of RD is of genetic character and 24.9% that RD are most common among children. Additionally, very few students knew the number of RD patients in Poland (5.2%). Most respondents believed that it is primarily geneticists (76.6%) and pediatricians (74.3%) who should be uniquely educated and trained in RD. Interestingly, although 95.4% of respondents perceived their knowledge about RD as insufficient or very poor and 92.2% did not feel prepared for caring for RD patients, 45.7% believed that it is not necessary to add an extra course on RD into medical curricula. Thus, as most future physicians do not possess knowledge about RD, there is an urgent need to raise the awareness on RD among medical students and educate them about such diseases.

    Download PDF (382K)
Brief Report
  • Jun-ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Tsuyoshi Ishida, Yuko ...
    Type: research-article
    2019 Volume 8 Issue 4 Pages 260-265
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    We previously identified an evolutionarily conserved protein named transmembrane protein 119 (TMEM119) as the most reliable maker for human microglia. Recent studies showed that under homeostatic conditions, microglia intensely express TMEM119, whereas the expression levels are greatly reduced in disease-associated microglia (DAM) activated at the site of neurodegeneration. Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, pathologically characterized by leukoencephalopathy, astrogliosis, axonal spheroids, and accumulation of microglia. However, it remains unknown whether microglia are homeostatic or activated in NHD brains. In the present study, we identified TMEM119 on microglia in NHD brains by immunohistochemistry. TMEM119 was expressed on microglia in NHD brains as well as in the brains of non-neurological controls (NC) and Alzheimer's disease (AD) patients, although TMEM119-immunolabeled areas exhibited great variability from case to case without significant differences among the study population. These results suggest that TMEM119 expression on microglia might play a key role in steady-state brain maintenance in NHD, AD and controls.

    Download PDF (1519K)
Case Reports
  • Rishi Philip Mathew, Florin Manolea, Safwat Girgis, Vimal Patel, Gavin ...
    Type: case-report
    2019 Volume 8 Issue 4 Pages 266-270
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Hepatic adenomas (HAs) are rare benign tumors of the liver and comprise 2% of all liver tumors with an annual incidence of 3-4/100,000 per year in Europe and North America. These tumors may be clinically silent or present with abdominal pain. Although rare, the most important complications associated with this tumor is haemorrhage and malignant transformation to hepatocellular carcinoma. The reported risk of malignant transformation is believed to be 4.2%. We present an extremely rare case report of a young woman on the oral contraceptive pill (OCP) with malignant transformation of a hepatic adenoma complicated additionally by tumor rupture and intraperitoneal bleed. This article therefore highlights the need to carefully evaluate any liver lesion in a young female on the OCP to be a possible adenoma and if confirmed to be so, to consider the potential risks associated with it as well as the need for follow-up imaging in order to avoid life threatening complications.

    Download PDF (1852K)
  • Mesha Srivastava, Jyotsna Punj
    Type: case-report
    2019 Volume 8 Issue 4 Pages 271-274
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Mayer-Rokitansky-Küster-Hauser syndrome is an uncommon disorder of mullerian agenesis where patients face multiple challenges like difficulty or inability to conceive and have sexual intercourse and chronic abdominal pain. This is a case report of a patient with Mayer-Rokitansky-Küster-Hauser syndrome who presented to the pain clinic with severe cyclical pelvic pain unresponsive to conservative treatment. This case was successfully managed with three ultrasound-guided superior hypogastric plexus blocks. This case illustrates that acute pelvic pain in MKRS patients can be effectively treated with bedside ultrasound-guided superior hypogastric plexus blocks. However, a GnRh analogue or hysterectomy is recommended for definitive treatment.

    Download PDF (712K)
  • Matteo Pasca, Antonella Picchioni, Salvatore Mazzeo, Federica Terenzi, ...
    Type: case-report
    2019 Volume 8 Issue 4 Pages 275-278
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    We reported the case of a John Cunningham virus (JCV) and human herpesvirus 6 (HHV-6) mediated progressive multifocal leukoencephalopathy (PML) after human stem cell transplant, reactivated 6 months later in absence of immunosuppressive therapy, successfully treated with anti-5HT2A receptors agents and antiviral therapy. Few cases of JCV and HHV-6 coinfection associated PML are described in literature and the role of HHV-6 in the pathogenesis and prognosis of PML is not completely clear. Our case suggests that, in a possible PML, the research of HHV-6 and JCV should be always performed on cerebrospinal fluid (CSF) and on blood samples and in case of detection of HHV-6 DNA a “chromosomally integrated human herpesvirus 6” (ciHHV-6) should be excluded. Furthermore we recommend to start an appropriate therapy with antiviral and anti-5HT2A receptors agents in case of possible PML due to JCV and HHV-6 coinfection.

    Download PDF (599K)
  • Liqiong Liu, Prithvi Narayan, Jay Xiong, Zhenggang Xiong
    Type: case-report
    2019 Volume 8 Issue 4 Pages 279-282
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Glioneuronal tumors are usually low-grade and have favorable prognosis. The anaplastic glioneuronal tumor with KIAA1549/BRAF fusion has not yet been documented. This article reports a case of glioneuronal tumor with anaplasia and KIAA1549/BRAF fusion to illuminate the importance of KIAA1549/BRAF fusion in high-grade glioneuronal tumors. A ten-year-old boy presented with one year of headache and three months of blurry vision and proptosis. Ophthalmologic evaluation revealed bilateral papilledema. Magnetic resonance imaging showed a large mixed cystic and solid mass in the left frontal lobe of cerebrum. Histologic analysis demonstrated a neoplasm with pseudopapillary growth pattern, focal necrosis, microcalcification, and brisk mitotic activity with a high Ki67 labeling index of focally up to 20%. Immunohistochemical assessment identified a mixed glial and neuronal neoplastic cell population. Molecular studies revealed a KIAA1549/BRAF fusion. The histological and molecular changes are consistent with an anaplastic glioneuronal tumor with KIAA1549/BRAF fusion. In view of the fact that the effective, targeted therapies for the tumors with KIAA1549/BRAF fusion are available, detection of KIAA1549/BRAF fusion for high-grade glioneuronal tumors is clinically helpful.

    Download PDF (446K)
Letter
  • Azka Latif, Vikas Kapoor, Brett Weum, Mohsin Mirza, Manasa Velagapudi
    Type: letter
    2019 Volume 8 Issue 4 Pages 283-285
    Published: November 30, 2019
    Released: January 12, 2020
    JOURNALS FREE ACCESS

    Cysticercosis is an infection with the larval stage of Taenia Solium which is estimated to affect over 50 million people worldwide. We report a case of disseminated cysticercosis in an immunocompetent 68-year-old male who presented with back pain, presumed to be musculoskeletal in nature initially. Magnetic-resonance-imaging of the lumbar spine revealed intramuscular (paraspinous and psoas muscles) cysts, innumerable small cystic lesions bilaterally throughout the cerebellar and cerebral hemispheres, midbrain, and right ventricle suggestive of cysticercosis. Treatment with albendazole with dexamethasone for 3 months led to resolution of the cysts with complete resolution of symptoms. Despite its importance, current data on prevalence of this infection, disease burden and the incidence of hospitalization remains incomplete. Mandatory reporting of diagnosis would enable complete understanding of epidemiology of the disease. In this case we have emphasized the importance of early diagnosis of a systemic condition that could have caused serious implications if left untreated.

    Download PDF (622K)
  • Jyotsna Punj, Paridhi Kaler, Basavaraj Ankalagi, Arya Prasad, Renu Sin ...
    Type: letter
    2019 Volume 8 Issue 4 Pages 286-288
    Published: November 30, 2019
    Released: January 12, 2020
    [Advance publication] Released: November 25, 2019
    JOURNALS FREE ACCESS

    Airway management in a child with hunter syndrome is a challenge to the anesthetists. Various methods to achieve this are reported in literature. Here we describe another method in a three year old male child posted for adenotonsillectomy and myringotomy. After check videolaryngoscopy with C Mac blade size 2, vocal cords were not visible even with various monoevres. Thus a larger blade size 3 was used to place it under the epiglottis after which posterior part of vocal cords became visible and bougie guided endotracheal intubation was successful. Thus we recommend that in a child with hunter syndrome if vocal cords are not visible, a larger blade can be utilized to place under the epiglottis to visualize the vocal cords for successful endotracheal intubation.

    Download PDF (271K)
feedback
Top