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Intractable & Rare Diseases Research

Oguz Yıldırım, Murat Gul, Sinan Inci, Halil Aktaş, Pınar Dogan, Abdulkadir Bozkır, İbrahim İzgü, Recep Karataş
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...
August 2018: Intractable & Rare Diseases Research
Zhaohui Bai, Hongyu Li, Xiaozhong Guo, Yanqin Liu, Jiao Deng, Chunhui Wang, Yingying Li, Xingshun Qi
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...
August 2018: Intractable & Rare Diseases Research
Manasvini Bhatt, Netto George, Manish Soneja, Prabhat Kumar, Surabhi Vyas, Ashutosh Biswas
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...
August 2018: Intractable & Rare Diseases Research
Pradeep Reddy Kathi, Maher Tama, Shankerdas Kundumadam, Dhiraj Gulati, Murray N Ehrinpreis
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...
August 2018: Intractable & Rare Diseases Research
Bakur Kotetishvili, Malkhaz Makashvili, Michael Okujava, Alexandre Kotetishvili, Tamar Kopadze
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)...
August 2018: Intractable & Rare Diseases Research
Nikolaos S Salemis
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...
August 2018: Intractable & Rare Diseases Research
Purva V Sharma, Omar Ilyas, Yash Jobanputra, Teresita Casanova, Venkat Kalidindi, Napolean Santos
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...
August 2018: Intractable & Rare Diseases Research
Harshal S Mandavdhare, Vishal Sharma, Harjeet Singh, Usha Dutta
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)...
August 2018: Intractable & Rare Diseases Research
Aishwarya Govindaswamy, Vijeta Bajpai, Vivek Trikha, Samarth Mittal, Rajesh Malhotra, Purva Mathur
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...
August 2018: Intractable & Rare Diseases Research
Olivier Audet, Hung Tien Bui, Maxime Allisse, Alain-Steve Comtois, Mario Leone
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...
August 2018: Intractable & Rare Diseases Research
Simin Derayeh, Alireza Kazemi, Reza Rabiei, Azamossadat Hosseini, Hamid Moghaddasi
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...
August 2018: Intractable & Rare Diseases Research
Jian Zhang, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
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...
August 2018: Intractable & Rare Diseases Research
Jiangjiang He, Qi Kang, Jiahao Hu, Peipei Song, Chunlin Jin
Over the past few years, the Chinese Government has paid greater attention to rare diseases and it has incorporated rare diseases in national health strategy and planning. On May 22, 2018, the Chinese Government officially released its first list of rare diseases, which included 121 rare diseases. The list was published to facilitate greater societal awareness of rare diseases, to improve the ability of front-line medical staff to treat rare diseases, to introduce incentives for research and development of orphan drugs, and to increase the availability of medicines for rare diseases...
May 2018: Intractable & Rare Diseases Research
Paolo Chieffi
A critical step for maintenance of genetic stability is chromosome segregation, which requires a high coordination of cellular processes. Loss of mitotic regulation is a possible cause of aneuploidy in human epithelial malignancy and it is thought to create an abnormal nuclear morphology in cancer cells. Serine/threonine protein kinase Aurora B gene plays a regulatory role from G2 to cytokinesis, encompassing key cell cycle events such as centrosome duplication, chromosome bi-orientation, and segregation. The overexpression of Aurora B has been observed in several tumour types, and has been linked with a poor prognosis for cancer patients...
May 2018: Intractable & Rare Diseases Research
Soichiro Sawamura, Takamitsu Makino, Takamitsu Johno, Junji Yamashita, Daisuke Niimori, Satoshi Fukushima, Hironobu Ihn
Although tumor necrosis factor (TNF)-α inhibitors are effective in patients with rheumatoid arthritis (RA), an increased risk of infections often becomes a serious problem. It is well known that TNF-α inhibitors increase the risk of tuberculosis, but extrapulmonary tuberculosis often induced by them is difficult to diagnose using routine imaging examinations. We described a case of delayed diagnosis of a tuberculous lymphadenitis in a patient with RA treated with TNF-α inhibitor because of the complications of severe bacterial sepsis...
May 2018: Intractable & Rare Diseases Research
Jonathan Gapp, Muhammad Fazeel Anwar, Jai Parekh, Timothy Griffin
A 61-year-old male was admitted from the outpatient setting for treatment of severe hyperglycemia. Five months earlier, his hemoglobin A1c had been 5 mmol/mol. At presentation, hemoglobin A1c was 11.3 mmol/mol and he required insulin therapy at discharge. Later magnetic resonance imaging (MRI) identified bilateral renal masses, previously seen on ultrasound during workup for chronic kidney disease, as being suspicious for renal cell carcinoma (RCC). He underwent partial nephrectomy and cryoablation with pathology showing papillary type RCC...
May 2018: Intractable & Rare Diseases Research
Sonu Agrawal, Vishwanath Singh Yadav, Anurag Srivastava, Arti Kapil, Benu Dhawan
Salmonella paratyphi A causes paratyphoid fever which is characterized by acute onset of fever, abdominal pain, diarrhoea, nausea and vomiting. Localized disease can occur following both overt and silent bacteremia followed by seeding of bacteria at distant sites. Salmonella species though associated with abscess formation in various organs,are rarely associated with breast abscess. We report 2 cases of breast abscess due to Salmonella enterica serotype paratyphi A. Appropriate sampling, surgery supplemented by a comprehensive microbiological work up aided in pathogen identification and appropriate antibiotic administration for a successful outcome of these patients...
May 2018: Intractable & Rare Diseases Research
Nitesh Kumar Bauddha, Ranveer Singh Jadon, Saikat Mondal, N K Vikram, Rita Sood
Histoplasmosis is a systemic fungal infection caused by Histoplasma capsulatum which occurs endemically in some parts of the world like North and Central America particularly in Mississippi and Ohio River valleys, but is uncommon in India. Progressive disseminated form of histoplasmosis (PDH) usually occurs in the immune-compromised hosts especially in HIV positive population. In PDH any organ can be involved like lung, liver, spleen, brain, adrenals etc . Involvement of oral cavity and buccal mucosa in PDH is common but pharyngeal involvement is rare...
May 2018: Intractable & Rare Diseases Research
Josef Finsterer, Claudia Stöllberger, Birgit Freudenthaler, Desiree De Simoni, Romana Höftberger, Klaus Wagner
Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper limbs with left-sided predominance since age 26y. Muscle enzymes were repeatedly elevated and muscle biopsy showed absence of dystrophin. MLPA analysis revealed a deletion of exons 12-29. After starting steroids at age 39y, she developed palpitations and exertional dyspnoea...
May 2018: Intractable & Rare Diseases Research
Di Zhou, Zhiwei Quan, Jiandong Wang
Primary and secondary intrahepatic malignant mesothelioma (PIHMM & SIHMM) caused by Peritoneal mesothelioma (PM) are extremely rare tumors and their clinicopathological characteristics remain unclear. The current study presented a case of a 63-year-old female with PIHMM and a literature review of Chinese case reports of SIHMM and PIHMM was performed. The patient received curative left hemihepatectomy because of a 5.5 × 5.0 × 4.0 cm mass occupying the II, III and the lateral portion of the IV segments and meanwhile tightly infiltrating the diaphragm (yellow arrow) was also observed...
May 2018: Intractable & Rare Diseases Research
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