Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
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Reviews
  • Jian Zhang, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
    2018 Volume 7 Issue 3 Pages 148-155
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    Intestinal microbial flora, known as the second gene pool of the human body, play an important role in immune function, nutrient uptake, and various activities of host cells, as well as in human disease. Intestinal microorganisms are involved in a variety of mechanisms that affect bone health. Gut microbes are closely related to genetic variation, and gene regulation plays an important part in the development of bone-related diseases such as osteoporosis. Intestinal microorganisms can disrupt the balance between bone formation and resorption by indirectly stimulating or inhibiting osteoblasts and osteoclasts. In addition, intestinal microorganisms affect bone metabolism by regulating growth factors or altering bone immune status and can also alter the metabolism of serotonin, cortisol, and sex hormones, thereby affecting bone mass in mice. Moreover, probiotics, antibiotics, and diet can change the composition of the intestinal microbial flora, thus affecting bone health and also potentially helping to treat bone disease. Studying the relationship between intestinal flora and osteoblasts, osteoclasts, and bone marrow mesenchymal stem cells may provide a basis for preventing and treating bone diseases. This paper reviews recent advances in the study of the relationship between intestinal microflora and bone disease.

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  • Simin Derayeh, Alireza Kazemi, Reza Rabiei, Azamossadat Hosseini, Hami ...
    2018 Volume 7 Issue 3 Pages 156-163
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    The study aims to systematically review literature on the rare diseases information system to identify architecture of this system from a data perspective. The search for relevant English language articles, based on keywords in title, abstract, Mesh and Emtree terms, was done in Pubmed and Embase (from 1980 to June 2017), Scopus, Science Direct and Cochran (from 1980 to July 2017). Articles were selected if they addressed data architecture of information systems with a focus on rare disease, and if at least one of their objectives dealt with design, implementation, and development of rare diseases information systems. Thirty-five studies met the inclusion criteria. The findings were categorized into six groups. This first group addressed organizations acting as data generators, data users, and data governors. The second group was related to data sources and databases. Datasets and data elements formed the third group of findings, including common datasets, specific datasets, and complementary datasets. The fourth group of findings was in relation to data standards. Data sharing and interactions among relevant bodies included the fifth group of the findings. The last group of findings was pertinent to procedures and criteria used for checking the quality of data, as cross review checking was a main procedure assessing the accuracy, consistency, and completeness of data. Design and development of an integrated information system for rare diseases considering data architecture principles in practice could help eliminating issues with management of rare diseases through facilitating sharing information and experiences.

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Original Article
  • Olivier Audet, Hung Tien Bui, Maxime Allisse, Alain-Steve Comtois, Mar ...
    2018 Volume 7 Issue 3 Pages 164-171
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 15, 2018
    JOURNALS FREE ACCESS

    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neuromuscular disorder caused by the mutation of the SACS gene. Clinical symptoms of this disease include progressive ataxia, spasticity, and peripheral neuropathy. Similar to other neuromuscular disorders, these patients are prone to physical deconditioning which may lead to a loss of functional capacity. This paper aims to evaluate the impact of a training program on the physical fitness and the functional capacity of ARSACS patients. Twelve patients (age: 28.1 ± 8.2 years) participated in this study. They followed an eight-week training program including physical activities, strength-power and aerobic training. Compared to the initial evaluation, measures of physical fitness and functional capacity were significantly improved (p ≤ 0.05) for 11 of the 12 tests. Positive gains were also observed for fall frequency and for upper-limb incoordination. This paper supports the importance of a training program for ARSACS patients in order to improve their quality of life. Through these types of interventions, it may be possible to slow down the progression of the disease and help maintain functional capacity.

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Brief Reports
  • Aishwarya Govindaswamy, Vijeta Bajpai, Vivek Trikha, Samarth Mittal, R ...
    2018 Volume 7 Issue 3 Pages 172-176
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    Elizabethkingia meningoseptica (E. meningoseptica) is a non-fermenting gram negative organism that is commonly detected in the soil and water but is rarely reported to cause human infection. However it is emerging as a nosocomial pathogen in patients admitted in intensive care units (ICUs). Infections caused by this organism have a high mortality rate due to lack of effective therapeutic regimens and its intrinsic resistance to multiple antibiotics. We report our experience in managing Elizabethkingia meningoseptica (E. meningoseptica) septicemia in our ICU patients with septic shock during prolonged intensive care management. Over a two year period four cases were admitted into the polytrauma ICU developed sepsis due to E. meningoseptica. All these patients were on mechanical ventilation, had central venous catheter (CVC) and were exposed to various broad spectrum antibiotics. Of the four patients, three died and one recovered. E. meningoseptica infection should be considered as a possible etiological agent of sepsis in patients who do not respond to empirical therapy, as this results in an inappropriate choice of antimicrobial therapy, leading to increased morbidity and mortality of patients. Its unusual resistance pattern along with inherent resistance to colistin makes this organism difficult to treat unless susceptibility patterns are available.

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  • Harshal S Mandavdhare, Vishal Sharma, Harjeet Singh, Usha Dutta
    2018 Volume 7 Issue 3 Pages 177-181
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 15, 2018
    JOURNALS FREE ACCESS

    Chylous ascites is an uncommon entity and infectious etiology is the most common cause in developing countries. However, recently, whether there is any change in trend of etiologies in developing countries is not known. In this study, a retrospective analysis of the data of cases of atraumatic chylous ascites was conducted. Twelve patients of atraumatic chylous ascites with a mean age of 35 years were studied and 6 of them were males. The mean duration of symptoms was 9.6 months and the clinical presentation was abdominal distension (12 cases), pain abdomen (10 cases), loss of appetite and weight (9 cases), peripheral lymphadenopathy (4 cases) and fever (3 cases). Etiologies were tuberculosis (3 cases), malignancy (2 cases), radiotherapy related (2 cases), pancreatitis related (2 cases), lymphatic malformation (2 cases) and multifactorial (1 case). Eight improved with conservative measures, 2 were lost to follow up and 2 died. Our outcomes found infectious etiology still as the most common cause of atraumatic chylous ascites. Benign treatable causes could be managed successfully with conservative measures while malignant etiology had a poor prognosis. Underlying etiology determines the outcome in atraumatic chylous ascites.

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Case Reports
  • Purva V. Sharma, Omar Ilyas, Yash Jobanputra, Teresita Casanova, Venka ...
    2018 Volume 7 Issue 3 Pages 182-184
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: July 27, 2018
    JOURNALS FREE ACCESS

    28-year-old African American female with chronic myeloid leukemia (CML) presented with blurry vision for 4-5 days prior to presentation associated with right-sided headaches. Patient was on treatment for the CML but never had hematological remission. Patient saw an ophthalmologist who told her that she has bilateral optic disc swelling and advised her to get an MRI of the brain. She came to the ER due to worsening headache and blurry vision. The funduscopic examination showed significant bilateral papilledema. Laboratory evaluation revealed a leukocytosis of 240 × 103/uL with platelet count of 1,202 × 103. The white cell differential count showed 17% blasts along with myelocytes and meta-myelocytes. MRI of brain revealed non-specific CSF flair signal. Lumbar puncture (LP) showed significantly elevated opening pressures. The CSF composition was however normal. The patient felt much relief of her symptoms following the LP. The papilledema was thought to be due to benign intracranial hypertension (ICH), which was attributed to poor CSF absorption due to resistance to flow of CSF caused by the high WBC count. She received 2 cycles of leukopheresis which dropped her WBC count. She was also started on acetazolamide for the benign ICH and her symptoms improved considerably. Patients with CML can thus present with symptoms mimicking CNS involvement of the disease such as headaches and blurry vision, but that could be attributed to the poor CSF resorption given the leukocytosis rather than spread of the disease itself.

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  • Nikolaos S. Salemis
    2018 Volume 7 Issue 3 Pages 185-190
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 15, 2018
    JOURNALS FREE ACCESS

    Traumatic neuroma of the breast after cancer surgery is a very rare clinical entity with only a few cases having been reported to date. We herein present a very rare case of traumatic breast neuroma in a postmenopausal patient with a history of breast-conserving surgery, who presented with a four-month history of intractable neuropathic breast pain. Diagnostic evaluation and management are discussed along with a review of the literature. Traumatic breast neuromas are very rare benign lesions that have been reported mainly after mastectomy. Our literature review yielded only 35 cases of traumatic breast neuromas in 28 patients, reported so far. Although imaging features may be indicative of a benign lesion, surgical excision is necessary to obtain a definitive diagnosis and to rule out a recurrent breast cancer. Conservative treatment is feasible in properly selected cases with asymptomatic neuromas after an accurate tissue sampling. The case presented herein underlines the necessity to consider traumatic neuroma in the differential diagnosis in patients with a history of breast surgery presenting with refractory neuropathic breast pain. A high index of suspicion is required because the lesion may be too small and can be missed on imaging investigations.

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  • Bakur Kotetishvili, Malkhaz Makashvili, Michael Okujava, Alexandre Kot ...
    2018 Volume 7 Issue 3 Pages 191-195
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 23, 2018
    JOURNALS FREE ACCESS

    We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score – 6) and ataxia (trouble maintaining balance). Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. Based on the scientific literature we suggest a finding of brachiturricephaly in addition to rhombencephalosynapsis and bilateral alopecia sufficient to put a diagnosis of GLHS. Patient did not speak, disregarded guardians and clinician addressing him, did not make eye contact, was restless and occasionally displayed aggression and self-injurious behavior. These symptoms confirm the earlier diagnosis of Autism Spectrum Disorder (ASD). Therefore, the current study describes a case of co-occurrence of GLHS and ASD.

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  • Pradeep Reddy Kathi, Maher Tama, Shankerdas Kundumadam, Dhiraj Gulati, ...
    2018 Volume 7 Issue 3 Pages 196-199
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 15, 2018
    JOURNALS FREE ACCESS

    Gastrointestinal (GI) arteriovenous malformations (AVMs) are a well-known source of bleeding with colon being the most common site, but they can also occur in rare locations like the esophagus which may present with life threatening bleeding. We report the case of a 51-year-old male with end stage renal disease (ESRD) presenting with hematemesis and acute on chronic anemia. Further investigation showed an esophageal AVM which is an unusual location and it was successfully treated with an endoscopic clip instead of argon plasma coagulation (APC) due to its challenging location and esophageal wall motion from breathing. The patient continued to be asymptomatic without any upper and lower GI bleeding during his 20 months follow up period after the endoscopic management. Review of literature showed only 10 cases of AVMs involving esophagus and the average age of presentation was 52 years with a male predominance. We also provide an overview of those cases in the discussion section below.

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  • Manasvini Bhatt, Netto George, Manish Soneja, Prabhat Kumar, Surabhi V ...
    2018 Volume 7 Issue 3 Pages 200-203
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    Spontaneous bilateral chylothorax and chylous ascites rarely develop in conjunction with systemic venous thrombosis, and the most common cause of non-traumatic chylous effusion is a malignancy. A 23-year-old immunocompetent female presented with a fever of 5 months' duration associated with progressive shortness of breath and abdominal distension. Evaluation revealed bilateral chylothorax, chylous ascites, and multiple venous thrombosis. Anti-tubercular drugs were initiated on the basis of a lymph node biopsy and computed tomography findings, but her symptoms worsened, and she developed massive bilateral pleural effusions with type 2 respiratory failure requiring invasive mechanical ventilation. She was managed with anti-tubercular drugs, chest tube drainage, octreotide, anticoagulants, and other supportive treatments. A multipronged approach to the management of chylous effusions and addition of octreotide led to resolution of symptoms. The challenges faced in diagnosing and managing this case are discussed in this report.

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  • Zhaohui Bai, Hongyu Li, Yanqin Liu, Jiao Deng, Chunhui Wang, Yingying ...
    2018 Volume 7 Issue 3 Pages 204-208
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    Both acute-on-chronic liver failure (ACLF) and autoimmune hemolytic anemia (AIHA) are common causes of jaundice. A co-occurrence of ACLF and AIHA is rare in clinical practice. This report describes a male elderly patient who developed persistently increased levels of total bilirubin and ascites after endoscopic retrograde cholangiopancreatography for the successful treatment of common bile duct stones. Eventually, he was diagnosed with ACLF and AIHA according to current diagnostic criteria. The patient was given conventional hepato-protective drugs, human albumin, and diuretics in combination with immune ozone without steroids, and he responded well. The therapeutic role of immune ozone in this case is also discussed. When immune ozone was given, total bilirubin gradually decreased; however, no change in total bilirubin was observed after immune ozone was stopped. Notably, when immune ozone was re-initiated, total bilirubin decreased again.

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  • Oguz Yıldırım, Murat Gul, Sinan Inci, Halil Aktaş, Pınar Dogan, Abdulk ...
    2018 Volume 7 Issue 3 Pages 209-212
    Published: August 31, 2018
    Released: September 19, 2018
    [Advance publication] Released: August 28, 2018
    JOURNALS FREE ACCESS

    Iatrogenic left main coronary artery dissection is a rare but potentially life-threatening complication of invasive coronary procedures. The newer generation drug eluting stents have shown a greater safety and efficacy compared to first generation drug eluting stents. We report a 60-year-old woman with iatrogenic left main coronary artery dissection who failed bailout stenting and underwent coronary artery bypass grafting. The strategy for managing left main coronary artery dissection is variable and depends upon the mechanism, the comorbidities of the patient and degree of hemodynamic stability. Longitudinal stent deformation is a rarely encountered complication but can be seen in complex lesions such as ostial, bifurcation and left main coronary artery lesions. The interventionists must be aware of this complication.

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