[Myxedema coma in a patient with type 1 neurofibromatosis: rare association].

Science.gov (United States)

Sasazawa, Denise Tieko; Tsukumo, Daniela Miti; Lalli, Cristina Alba

2013-12-01

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis of neurofibromatosis. After admission, he progressed to respiratory insufficiency and coma. The prompt recognition of the condition, thyroid hormone replacement, and management of the complications (hypoventilation, cardiogenic shock associated with swinging heart, adrenal and renal insufficiency and sepsis), resulted in a favorable evolution.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

Directory of Open Access Journals (Sweden)

Barbara De La Salle

2013-03-01

Full Text Available Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias has established a list of core laboratory tests that are used in the diagnosis of rare and congenital anaemias, which has been used as the basis for questionnaires to laboratories, to establish the use and quality assurance of diagnostic testing in the congenital and rare anaemias, and to European EQA providers for services in this key area. In general, the provision of EQA for rare and congenital anaemias is widely variable with little provision for the very rare disorders. For the more common congenital anaemias, such as the haemoglobinopathies and thalassaemias, provision is better but there is variation in aspects of the scheme design, especially the frequency of distribution. Where laboratories did not take part in EQA for individual tests, or there was no EQA available, a desire to participate was expressed in 66% (102/154 of cases. The provision of external quality assessment (EQA services for rare disorders is a challenge. For many of these conditions, the number of patients in any one member state is very small with only a few laboratories providing diagnostic testing. In these cases, the development of pan-European or cross-border EQA may be the only means by which standardisation of methods and results can be achieved. An EQA survey of 243 laboratories for performance in Hb A2 quantification showed encouraging results in that there was a clear differentiation in the results from a beta Thalassaemia carrier and an individual with no evidence of Thalassaemia; however, a bias was observed between different methods of measurement.

The ethical framework for performing research with rare inherited neurometabolic disease patients.

Science.gov (United States)

Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D'Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cortès-Saladelafont, Elisenda; Cazorla, Ángels Garcia; Barić, Ivo; Cvitanović-Šojat, Ljerka; Fumić, Ksenija; Dali, Christine I; Bartoloni, Franco; Bonifazi, Fedele; Scarpa, Maurizio; Ceci, Adriana

2017-03-01

The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues. Three searches have been performed on the European regulatory/legal framework, the literature and European Union-funded projects. The European legal framework offers a number of ethical provisions ruling the clinical research on paediatric, rare, inherited diseases with neurological symptoms. In the literature, relevant publications deal with informed consent, newborn genetic screenings, gene therapy and rights/interests of research participants. Additional information raised from European projects on sharing patients' data from different countries, the need to fill the gap of the regulatory framework and to improve information to stakeholders and patients/families. Several recommendations and guidelines on ethical aspects are applicable to the inherited neurometabolic disease research in Europe, even though they suffer from the lack of a common ethical approach. What is Known: • When planning and conducting clinical trials, sponsors and researchers know that clinical trials are to be performed according to well-established ethical rules, and patients should be aware about their rights. • In the cases of paediatric patients, vulnerable patients unable to provide consent, genetic diseases' further rules apply. What is New: • This work discusses which ethical rules apply to ensure protection of patient's rights if all the above-mentioned features coexist. • This work shows available data and

Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation.

Science.gov (United States)

Paiva, Aline Lariessy Campos; Aguiar, Guilherme Brasileiro de; Lovato, Renan Maximilian; Zanetti, Arthus Vilar Deolindo; Panagopoulos, Alexandros Theodoros; Veiga, José Carlos Esteves

2017-11-06

Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

China’s Rare Earths Production Forecasting and Sustainable Development Policy Implications

Directory of Open Access Journals (Sweden)

Xibo Wang

2017-06-01

Full Text Available Because of their unique physical and chemical properties, Rare earth elements (REEs perform important functions in our everyday lives, with use in a range of products. Recently, the study of China’s rare earth elements production has become a hot topic of worldwide interest, because of its dominant position in global rare earth elements supply, and an increasing demand for rare earth elements due to the constant use of rare earth elements in high-tech manufacturing industries. At the same time, as an exhaustible resource, the sustainable development of rare earth elements has received extensive attention. However, most of the study results are based on a qualitative analysis of rare earth elements distribution and production capacity, with few studies using quantitative modeling. To achieve reliable results with more factors being taken into consideration, this paper applies the generic multivariant system dynamics model to forecast China’s rare earth elements production trend and Hubbert peak, using Vensim software based on the Hubbert model. The results show that the peak of China’s rare earth elements production will appear by 2040, and that production will slowly decline afterwards. Based on the results, the paper proposes some policy recommendations for the sustainable development of China’s—and the world’s—rare earth elements market and rare earth-related industries.

Rare successful pregnancy in a patient with Swyer Syndrome.

Science.gov (United States)

Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael

2016-10-01

To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Case report. Herts & Essex Fertility Centre, Cheshunt, UK. A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. Successful pregnancy and live birth. Successful treatment with donor eggs, pregnancy, and delivery. A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery.

Illness Perception and Information Behaviour of Patients with Rare Chronic Diseases

Science.gov (United States)

Katavic, Snježana Stanarevic; Tanackovic, Sanjica Faletar; Badurina, Boris

2016-01-01

Introduction: This study examined possible correlations between health information behaviour and illness perception among patients with rare chronic diseases. Illness perception is related to coping strategies used by patients, and some health information behaviour practices may be associated with better coping and more positive perception of…

Dental Management of a Pediatric Patient with Moyamoya Syndrome: A Rare Clinical Entity.

Science.gov (United States)

Ko, Brittany L; Unkel, John H

2018-01-01

Moyamoya disease (MMD) is a rare cerebrovascular disorder involving progressive constriction of the internal carotid artery and its branches. The disease has a particularly aggressive course in very young patients, and early surgical intervention is often necessary to prevent permanent neurological damage. MMD patients have an increased risk of stroke development, which may be provoked by pain or anxiety. Currently, no reports of pediatric patients with MMD exist in the dental literature. The purpose of this paper was to discuss the dental management of a two-year-old with moyamoya disease who presented with early childhood caries and dental fear, offering recommendations for dental providers with emphasis on stroke prevention, collaboration with the medical team, anesthesia considerations for patients with increased stroke risk, and the challenges to maintain the oral health of a patient undergoing complex medical treatment.

Abdominal Cocoon: A Rare and Difficult Togetherness in Trauma Patient

Directory of Open Access Journals (Sweden)

Erkan Oymaci

2016-07-01

Full Text Available Abdominal cocoon, as known sclerosing encapsulating peritonitis, is a rare condition of mechanical intestinal obstruction due to total or partial encapsulation of the small bowel by a fibrocollagenous membrane. It has been reported mainly in young adolescent women and the majority of the cases are of unknown etiology. Awareness of this rare cause of surgical emergency may prevent delay in treatment and avoid unnecessary procedures for the patient. We are presenting an operated abdominal cocoon case which can be cause difficulty in diagnose and treatment.

Twenty-First Century Diseases: Commonly Rare and Rarely Common?

Science.gov (United States)

Daunert, Sylvia; Sittampalam, Gurusingham Sitta; Goldschmidt-Clermont, Pascal J

2017-09-20

Alzheimer's drugs are failing at a rate of 99.6%, and success rate for drugs designed to help patients with this form of dementia is 47 times less than for drugs designed to help patients with cancers ( www.scientificamerican.com/article/why-alzheimer-s-drugs-keep-failing/2014 ). How can it be so difficult to produce a valuable drug for Alzheimer's disease? Each human has a unique genetic and epigenetic makeup, thus endowing individuals with a highly unique complement of genes, polymorphisms, mutations, RNAs, proteins, lipids, and complex sugars, resulting in distinct genome, proteome, metabolome, and also microbiome identity. This editorial is taking into account the uniqueness of each individual and surrounding environment, and stresses the point that a more accurate definition of a "common" disorder could be simply the amalgamation of a myriad of "rare" diseases. These rare diseases are being grouped together because they share a rather constant complement of common features and, indeed, generally respond to empirically developed treatments, leading to a positive outcome consistently. We make the case that it is highly unlikely that such treatments, despite their statistical success measured with large cohorts using standardized clinical research, will be effective on all patients until we increase the depth and fidelity of our understanding of the individual "rare" diseases that are grouped together in the "buckets" of common illnesses. Antioxid. Redox Signal. 27, 511-516.

A rare case of empyema developed after transarterial chemoembolization for hepatocellular carcinoma

Energy Technology Data Exchange (ETDEWEB)

Sur, Young Keun; Won, Je Hwan; Hwang, Hee Jung; Kim, Jinoo [Ajou University Hospital, Ajou University School of Medicine, Suwon (Korea, Republic of)

2015-01-15

A 60-year-old male patient who previously underwent transarterial chemoembolization for recurrent hepatocellular carcinoma three months ago presented to the emergency department with pleural effusion and hemoptysis. On serial review of plain radiographs and chest CT, transdiaphragmatic migration of Lipiodol from the treated area of the liver into the ipsilateral pleural cavity was demonstrated. The patient consequently developed empyema in the right thorax. Therefore, percutaneous drainage was performed. Empyema and pleural effusion regressed after 10 days of medical treatment and drainage. After that, the patient was transferred back to the local clinic upon full symptomatic recovery. Herein, we describe a rare complication of transarterial chemoembolization for hepatocellular carcinoma manifesting as an empyema secondary to the migration of the ethiodized oil content from the liver into the ipsilateral pleural cavity.

Rare successful pregnancy in a patient with Swyer Syndrome

Directory of Open Access Journals (Sweden)

Jyoti Taneja

2016-10-01

Full Text Available Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s: A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Intervention(s: Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. Main Outcome Measure(s: Successful pregnancy and live birth. Result(s: Successful treatment with donor eggs, pregnancy, and delivery. Conclusion(s: A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery. Keywords: Swyer syndrome, XY female, Gonadal dysgenesis, Primary amenorrhoea and HRT, Pregnancy in Swyer syndrome

A Rare Case of Pediatric Nosocomial Liver Abscess Developing During Dialysis Therapy

Directory of Open Access Journals (Sweden)

Mittal

2015-08-01

Full Text Available Introduction Liver abscess developing during hospital stay in pediatric patients on dialysis for acute kidney injury has been previously unreported. Impaired immunity, prolonged use of antibiotics, diabetes and malnutrition predispose to liver abscess in chronic hemodialysis patients. Case Presentation We reported a case of liver abscess developing in a 6-year-old boy admitted with sepsis and multiorgan dysfunction syndrome including acute kidney injury. He received peritoneal and subsequently hemodialysis, as he did not improve on peritoneal dialysis. He developed fever while on hemodialysis, which was due to a liver abscess developing during the course of hospital stay. The abscess was in the right lobe of the liver with a volume of 40 mL. Staphylococcus aureus is the leading cause of pyogenic liver abscesses in children and infection acquired from hospital. The patient received vancomycin and responded well with complete resolution and did not require any drainage procedure. He may have acquired bacteremia during dialysis with subsequent hepatic seeding. Conclusions Though rare, liver abscess may develop even in patients undergoing short-term dialysis therapy. Liver abscess is a medical emergency and if not treated promptly may lead to significant mortality. Invasive therapeutic procedures, like drainage is associated with further risk of complications. Therefore, a high index of suspicion should be kept when evaluating a patient who develops unexplained fever while being on hemodialysis. Early medical intervention through appropriate antibiotics can significantly reduce the morbidity and mortality. Strict infection control policies should be followed to prevent such nosocomial infections.

Determinants and Equity Evaluation for Health Expenditure Among Patients with Rare Diseases in China.

Science.gov (United States)

Xin, Xiao-Xiong; Zhao, Liang; Guan, Xiao-Dong; Shi, Lu-Wen

2016-06-20

China has not established social security system for rare diseases. Rare diseases could easily impoverish patients and their families. Little research has studied the equity and accessibility of health services for patients with rare diseases in China. This study aimed to explore the factors that influence health expenditure of rare diseases and evaluate its equity. Questionnaire survey about living conditions and cost burden of patients with rare diseases was conducted. Individual and family information, health expenditure and reimbursement in 2014 of 982 patients were collected. The impact of medical insurance, individual sociodemographic characteristics, family characteristics, and healthcare need on total and out-of-pocket (OOP) health expenditures was analyzed through the generalized linear model. Equity of health expenditure was evaluated by both concentration index and Lorenz curve. Of all the surveyed patients, 11.41% had no medical insurance and 92.10% spent money to seek medical treatment in 2014. It was suggested female (P = 0.048), over 50 years of age (P = 0.062), high-income group (P = 0.021), hospitalization (P = 0.000), and reimbursement ratio (RR) (P = 0.000) were positively correlated with total health expenditure. Diseases not needing long-term treatment (P = 0.000) was negatively correlated with total health expenditure. Over 50 years of age (P = 0.065), high-income group (P = 0.018), hospitalization (P = 0.000) and having Urban Employee Basic Medical Insurance (UEBMI) (P = 0.022) were positively correlated with OOP health expenditure. Patient or the head of the household having received higher education (P = 0.044 and P = 0.081) and reimbursement ratio (P = 0.078) were negatively correlated with OOP health expenditure. The equity evaluation found concentration indexes of health expenditure before and after reimbursement were 0.0550 and 0.0539, respectively. OOP health expenditure of patients with UEBMI was significantly more than that of

Drugs for rare disorders.

Science.gov (United States)

Cremers, Serge; Aronson, Jeffrey K

2017-08-01

Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients. However, collectively rare disorders are fairly common, affecting 6-8% of the US population, or about 30 million people, and a similar number in the European Union. Most of them affect children and most are genetically determined. Diagnosis can be difficult, partly because of variable presentations and partly because few clinicians have experience of individual rare disorders, although they may be assisted by searching databases. Relatively few rare disorders have specific pharmacological treatments (so-called orphan drugs), partly because of difficulties in designing trials large enough to determine benefits and harms alike. Incentives have been introduced to encourage the development of orphan drugs, including tax credits and research aids, simplification of marketing authorization procedures and exemption from fees, and extended market exclusivity. Consequently, the number of applications for orphan drugs has grown, as have the costs of using them, so much so that treatments may not be cost-effective. It has therefore been suggested that not-for-profit organizations that are socially motivated to reduce those costs should be tasked with producing them. A growing role for patient organizations, improved clinical and translational infrastructures, and developments in genetics have also contributed to successful drug development. The translational discipline of clinical pharmacology is an essential component in drug development, including orphan drugs. Clinical pharmacologists, skilled in basic pharmacology and its links to clinical medicine, can be involved at all stages. They can contribute to the delineation of genetic factors that determine clinical outcomes of pharmacological interventions, develop biomarkers, design and perform clinical trials, assist regulatory decision

A rare metastasis from a rare brain tumour

DEFF Research Database (Denmark)

Aabenhus, Kristine; Hahn, Christoffer Holst

2014-01-01

This case report presents the story of a patient with an oligodendroglioma metastasizing to the bone marrow and to lymph nodes of the neck. The patient had undergone primary brain surgery 13 years prior to the discovery of metastases and radiotherapy directed at the brain tumour two months prior........ Oligodendroglioma are rare primary brain tumours of which extraneural metastasis is even more rare. The incidence of cases like this may be increasing because of better treatment and thus longer survival of patients with oligodendroglioma....

Congenital tracheoesophageal fistula: A rare and late presentation in adult patient

Directory of Open Access Journals (Sweden)

Waseem M Hajjar

2012-01-01

Full Text Available Congenital H-type tracheoesophageal fistula (TEF in adults is a rare presentation and can test the diagnostic acumen of a surgeon, endoscopist, and the radiologist. These undetected fistulas may present as chronic lung disease of unknown origin because repeated aspirations can lead to recurrent lung infections and bronchiectasis. Congenital TEFs should be considered in the diagnosis of infants and young adults with recurrent respiratory distress and/or infections. Here, we present the successful management of this rare case in an adult patient.

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

Science.gov (United States)

Lattante, Serena; Le Ber, Isabelle; Camuzat, Agnès; Dayan, Sarah; Godard, Chloé; Van Bortel, Inge; De Septenville, Anne; Ciura, Sorana; Brice, Alexis; Kabashi, Edor

2013-10-01

Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed. Copyright © 2013 Elsevier Inc. All rights reserved.

Ethical and social aspects on rare diseases

Directory of Open Access Journals (Sweden)

Krajnović Dušanka

2012-01-01

Full Text Available Rare diseases are a heterogenic group of disorders with a little in common except of their rarity affecting by less than 5 : 10.000 people. In the world is registered about 6000-8000 rare diseases with 6-8% suffering population only in the European Union. In spite of rarity, they represent an important medical and social problem due to their incidence. For many rare diseases have no treatment, but if it exists and if started on time as being available to patients, there is a good prognosis for them to be able for normal life. The problems of patients affected by rare diseases are related to the lack of diagnosis and timely undergoing as well as their treatment or prevention. Orphan drugs are products intended for treatment, diagnosis or prevention of rare diseases, but for their development and marketing the industry has not been interested in yet because of their marketing reasons. Patients suffering from a rare disease although belonging to the vulnerable group for their specific health needs, is becoming invisible in the health care system due to their additional needs un properly recognized. Ethical problems faced by patients, but also health care professionals are related to the allocation of medical diagnostics, unequal approach to health care, inappropriately specialized social services as well as therapy and rare orphan drugs unavailability. Ethical questions related to clinical trails on orphan drugs, population screening and epidemiology testing on rare diseases will also be discussed in this paper. [Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects

RARE DISEASES AND GENETIC DISCRIMINATION

Directory of Open Access Journals (Sweden)

Mariela Yaneva – Deliverska

2011-04-01

physicians (not enough physicians involved in rare diseases clinical trials, and the absence of treatment consensus recommendations.It is fundamental to realise that rare diseases can affect any family at any time. It is not just “something terrible that happens to other people”. It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life.In fact, the terminology “rare diseases” only highlights the characteristic of rarity of the complex and heterogeneous mosaic of an estimated 7,000 life-threatening and heavily debilitating conditions.The rare diseases for which a simple and effective preventive treatment is available are being screened for, as part of public health policy. But this is not enough, and it is essential for public authorities to consider rare diseases as a Public Health priority and take action to concretely support patients and families affected by rare diseases.As underlined in the Background Paper on Orphan Diseases for the World Health Organisation Report on Priority Medicines for Europe and the World, “despite the growing public awareness of rare diseases in the last one or two decades, there are still many gaps in knowledge related to the development of treatment for rare diseases. Policymakers have to realise that rare diseases are a crucial health issue for about 30 million people in the EU”.A good medication for rare disease patients is a medication that is both available in the country where they live and affordable. If one of these two factors is missing, the drug is of little use.Personalized medicine however is an emerging term for a medical philosophy that uses a person’s individual clinical, genetic, genomic, and environmental information to tailor a treatment plan that will maximize efficacy and safety for that individual. While the technology offers much promise, it also is also challenged by some ethical and social questions in both its clinical application and in its

Optimization of patient protection using rare earth screen in conventional imaging procedure

International Nuclear Information System (INIS)

Inkoom, S.; Schandorf, C.; Fletcher, J.J.

2008-01-01

The purpose of this study was to optimize patient protection using rare earth screen of speed 400 in place of conventional screen-film of speed 200. The entrance surface dose (ESD) for the two screen-film systems was determined for patients undergoing simple radiographic examinations (chest, lumbar spine and pelvis series). The determination of the ESD included backscatter factors. The ESD was the optimizing parameter and its trade off with the image quality assessment, which was surveyed based on the information obtained through standardized questionnaire. The estimated ESDs were compared with reference levels set by the Community of European Commission (CEC) for a standard adult patient. For chest PA, ESD estimates were lower than the CEC reference levels whilst that of lumbar spine AP and LAT and pelvis AP were high. Upon the adoption of rare earth screen of speed 400, a dose reduction of 33% for chest, 17% for lumbar spine and 28% for pelvis examinations was achieved. From the observations made from this study, some corrective actions such as equipment quality control of parameters that affect patient dose and image quality like kVp accuracy and consistency, mAs accuracy and consistency, optimal film processing conditions, regular film reject analysis to detect and minimize the root causes and contributory factors to poor image quality and periodic training of staff on dose reduction techniques must be undertaken. Regular assessment of patient dose and image quality, equipment quality control, adoption of faster rare earth screens and optimum radiographic technique are therefore recommended in order to achieve optimization goals. (author)

Isolated pulmonary candidiasis in a patient with diabetes mellitus: A rare case report.

Science.gov (United States)

Hakamifard, Atousa; Khorvash, Farzin; Raisi, Arash

2016-01-01

Fungal infections are as a cause of morbidity and mortality in immunocompromise patients. Because the respiratory tract is colonized with Candida, the presence of this agent in respiratory specimens makes the diagnosis of Candida pneumonia problematic. Candida pneumonia is a rare infection, and the majority of cases are secondary to hematogenous dissemination. Furthermore isolated Candida pneumonia originating from endotracheal inoculation is an extremely rare entity. We describe a case of isolated pulmonary candidiasis in the form multiple nodular lesions in a patient with long-term history of diabetes mellitus without evidence of fungemia or systemic involvement who responded to antifungal therapy.

Diagnosis of Aortic Dissection in Emergency Department Patients is Rare

Directory of Open Access Journals (Sweden)

Scott M. Alter

2015-10-01

Full Text Available Introduction: Aortic dissection is a rare event. While the most frequent symptom is chest pain, that is a common emergency department (ED chief complaint and other diseases causing chest pain occur much more often. Furthermore, 20% of dissections are without chest pain and 6% are painless. For these reasons, diagnosing dissections may be challenging. Our goal was to determine the number of total ED and atraumatic chest pain patients for every aortic dissection diagnosed by emergency physicians. Methods: Design: Retrospective cohort. Setting: 33 suburban and urban New York and New Jersey EDs with annual visits between 8,000 and 80,000. Participants: Consecutive patients seen by emergency physicians from 1-1-1996 through 12-31-2010. Observations: We identified aortic dissection and atraumatic chest pain patients using the International Classification of Diseases 9th Revision and Clinical Modification codes. We then calculated the number of total ED and atraumatic chest pain patients for every aortic dissection, along with 95% confidence intervals (CIs. Results: From a database of 9.5 million ED visits, we identified 782 aortic dissections or one for every 12,200 (95% CI [11,400-13,100] visits. The mean age of dissection patients was 66±16 years and 38% were female. There were 763,000 (8% with atraumatic chest pain diagnoses. Thus, there is one dissection for every 980 (95% CI [910-1,050] atraumatic chest pain patients. Conclusion: The diagnosis of aortic dissections by emergency physicians is rare and challenging. An emergency physician seeing 3,000 to 4,000 patients a year would diagnose an aortic dissection approximately every three to four years.

Rare myositis-specific autoantibody associations among Hungarian patients with idiopathic inflammatory myopathy.

Science.gov (United States)

Bodoki, L; Nagy-Vincze, M; Griger, Z; Betteridge, Z; Szöllősi, L; Jobanputra, R; Dankó, K

2015-01-01

Idiopathic inflammatory myopathies are systemic, chronic autoimmune diseases characterized by symmetrical, proximal muscle weakness. Homogeneous groups present with similar symptoms. The response to therapy and prognosis could be facilitated by myositis-specific autoantibodies, and in this way, give rise to immunoserological classification. The myositis-specific autoantibodies are directed against specific proteins found in the cytoplasm or in the nucleus of the cells. To date, literature suggests the rarity of the co-existence of two myositis-specific autoantibodies. In this study the authors highlight rare associations of myositis-specific autoantibodies. Three hundred and thirty-seven Hungarian patients with polymyositis or dermatomyositis were studied. Their clinical findings were noted retrospectively. Specific blood tests identified six patients with the rare co-existence of myositis-specific autoantibodies, anti-Jo-1 and anti-SRP, anti-Jo-1 and anti-Mi-2, anti-Mi-2 and anti-PL-12, anti-Mi-2 and anti-SRP, and anti-SRP and anti-PL-7, respectively. This case review aims to identify the clinical importance of these rare associations and their place within the immunoserological classification.

Surveillance of rare cancers

NARCIS (Netherlands)

van der Zwan, Johannes Martinus

2016-01-01

The widespread incidence and effects of cancer have led to a growing development in cancer prevention in the form of screening and research programs and cancer registries. Because of the low number of patients with rare cancers this improvement is not applied to the same extent to all cancer

Isolated pulmonary candidiasis in a patient with diabetes mellitus: A rare case report

Directory of Open Access Journals (Sweden)

Atousa Hakamifard

2016-01-01

Full Text Available Fungal infections are as a cause of morbidity and mortality in immunocompromise patients. Because the respiratory tract is colonized with Candida, the presence of this agent in respiratory specimens makes the diagnosis of Candida pneumonia problematic. Candida pneumonia is a rare infection, and the majority of cases are secondary to hematogenous dissemination. Furthermore isolated Candida pneumonia originating from endotracheal inoculation is an extremely rare entity. We describe a case of isolated pulmonary candidiasis in the form multiple nodular lesions in a patient with long-term history of diabetes mellitus without evidence of fungemia or systemic involvement who responded to antifungal therapy.

Isolated pulmonary candidiasis in a patient with diabetes mellitus: A rare case report

OpenAIRE

Hakamifard, Atousa; Khorvash, Farzin; Raisi, Arash

2016-01-01

Fungal infections are as a cause of morbidity and mortality in immunocompromise patients. Because the respiratory tract is colonized with Candida, the presence of this agent in respiratory specimens makes the diagnosis of Candida pneumonia problematic. Candida pneumonia is a rare infection, and the majority of cases are secondary to hematogenous dissemination. Furthermore isolated Candida pneumonia originating from endotracheal inoculation is an extremely rare entity. We describe a case of is...

Creating a multi-national development platform: Thorium energy and rare earth value chain

International Nuclear Information System (INIS)

Kennedy, J.; Kutsch, J.

2014-01-01

Rare earths and thorium are linked at the mineralogical level. Changes in thorium regulations and liabilities resulted in the development of excessive market concentrations in the rare earth value chain. High value monazite rare earth resources, a by-product of heavy mineral sands mining, constituted a significant portion of global rare earth supply (and nearly 100% of heavy rare earths) until legislative changes, interpretation and enforcement regarding “source materials” in the early 1980s eliminated these materials from the supply chain.

Report from Mongolia – How much do we know about the incidence of rare cases in less developed countries: a case series

Directory of Open Access Journals (Sweden)

Dünser Martin W

2008-11-01

Full Text Available Abstract Introduction Case reports are important instruments to describe rare disease conditions and give a rough estimation of their global incidence. Even though collected in international databases, most case reports are published by clinicians from industrialized nations and little is known about the incidence of rare cases in less developed countries, which are home to 75% of the world's population. Case presentation We present seven patients who suffered from diseases which are either considered to be rare or have not yet been described before according to international databases, but occurred during a 5-month period in one intensive care unit of a less developed country. During the observation period, patients with a spontaneous infratentorial subdural hematoma (Asian, female, 41 years, general exanthema and acute renal failure after diesel ingestion (Asian, male, 30 years, transient cortical blindness complicating hepatic encephalopathy (Asian, female, 49 years, Fournier gangrene complicating acute necrotizing pancreatitis (Asian, male, 37 years, acute renal failure due to acetic acid intoxication (Asian, male, 42 years, haemolytic uremic syndrome following septic abortion (Asian, female, 45 years, and a metal needle as an unusual cause of chest pain (Asian, male, 41 years were treated. According to the current literature, all seven disease conditions are considered either rare or have so far not yet been reported. Conclusion The global incidence of rare cases may be underestimated by contemporary international databases. Diseases which are currently considered to be rare in industrialized nations may occur at a higher frequency in less developed countries. Reasons may not only be a geographically different burden of certain diseases, limited diagnostic and therapeutic facilities, but also a relevant publication bias.

Computer-assisted initial diagnosis of rare diseases

Directory of Open Access Journals (Sweden)

Rui Alves

2016-07-01

Full Text Available Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80% and sensitivity (≥99%, and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers.

Delayed access to treatments for rare diseases: who's to blame?

Science.gov (United States)

Feltmate, Karen; Janiszewski, Peter M; Gingerich, Sheena; Cloutier, Michael

2015-04-01

The development and commercialization of drugs for rare diseases, termed 'orphan drugs', has historically been economically unattractive. However, because of the introduction of legislation that provides financial and regulatory incentives for the development of orphan drugs, new developments are making their way through the regulatory approval processes. Unfortunately, delays in availability of new drugs for treating rare disease continue to persist. This paper reviews the approach of several regulatory jurisdictions to orphan drugs in an effort to determine their relative effectiveness in providing patient access. Generally speaking, regulatory authorities across jurisdictions have recognized the need to enhance timely access to safe, effective treatment for patients with rare diseases and have been able to shift the approval timelines for access to new care. The greater impediment to orphan drug access appears to be funding, particularly in publicly sponsored health-care systems. Redundancies in federal and provincial reviews of orphan drugs can result in significant delays in access to new drugs. Clearly, more must be done to accelerate access to the treatments so desperately needed by patients. Public payers must be held accountable for their process and decisions--especially for rare disease therapies. © 2015 Asian Pacific Society of Respirology.

Effect of rare earth filtration on patient exposure, dose reduction, and image quality in oral panoramic radiology

International Nuclear Information System (INIS)

Tyndall, D.A.; Washburn, D.B.

1987-01-01

Rare earth intensifying screen material (Gd2O2S:Tb) was added to the standard Al filtration of an oral panoramic x-ray unit, resulting in a beam capable of achieving reductions in patient dose without a loss of image quality. The added rare earth filtration technique resulted in patient dose reductions of 21-56%, depending on anatomic sites, when compared to the conventional Al filtration technique. Films generated from both techniques were measured densitometrically and evaluated by a panel of practicing clinicians. Diagnostically significant differences were minimal. The results indicate that use of rare earth filters in oral panoramic radiography is an effective means of reducing exposures of dental patients to ionizing radiation

PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL.

Science.gov (United States)

Miller, Patricia A; Mulla, Sohail M; Adams-Webber, Thomasin; Sivji, Yasmin; Guyatt, Gordon H; Johnston, Bradley C

2016-01-01

To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II). Researchers and HTA experts who responded to an email invitation participated in a telephone interview. We used qualitative content analysis to analyze the anonymized transcripts. We conducted a comprehensive literature search for studies that used PROs to investigate burden of disease or to assess the impact of interventions across the five LSDs of interest. Interviews with seven researchers and six HTA experts representing eight countries revealed five themes. These were: (i) the importance of using psychometrically sound PROs in studies with rare diseases, (ii) the paucity of disease-specific PROs, (iii) the importance of having PRO data for economic analyses, (iv) practical and psychometric limitations of existing PROs, and (v) suggestions for new PROs. The systematic review has been completed. The interviews highlight current challenges and opportunities experienced by researchers and HTA experts involved in work with rare LSDs. The ongoing systematic review will highlight the experience, opportunities, and limitations of PROs in LSDs and provide suggestions for future research.

A rare case of acute lymphoblastic leukaemia with hemophilia A

Directory of Open Access Journals (Sweden)

John Biju

2009-12-01

Full Text Available Abstract A rare case of Acute lymphoblastic leukemia with hemophillia in a 12 year old boy is presented in the article. Patient was known case of hemophillia (factor VIII deficiency. He was diagnosed as a case of ALL based on bone marrow examination and immunophenotypic study. Patient was treated as per Children Cancer group guidelines. The main aim of reporting this rare association lies in developing treatment strategies in preventing life threatening bleeding due to this rare association which though may be accidental but need further research.

Meningitis in a Chinese adult patient caused by Mycoplasma hominis: a rare infection and literature review.

Science.gov (United States)

Zhou, Menglan; Wang, Peng; Chen, Sharon; Du, Bin; Du, Jinlong; Wang, Fengdan; Xiao, Meng; Kong, Fanrong; Xu, Yingchun

2016-10-12

Mycoplasma hominis, a well known cause of neonatal infection, has been reported as a pathogen in urogenital infections in adults; however, central nervous system (CNS) infections are rare. We report here the first case of M. hominis meningitis in China, post neurosurgical treatment for an intracerebral haemorrhage in a 71-year-old male. We describe a 71-year-old man who developed M. hominis meningitis after neurosurgical treatment and was successfully treated with combined azithromycin and minocycline therapy of 2 weeks duration, despite delayed treatment because the Gram stain of cerebrospinal fluid (CSF) yielded no visible organisms. The diagnosis required 16S rDNA sequencing analysis of the cultured isolate from CSF. Literature review of M. hominis CNS infections yielded 19 cases (13 instances of brain abscess, 3 of meningitis, 1 spinal cord abscess and 1 subdural empyema each). Delay in diagnosis and initial treatment failure was evident in all cases. With appropriate microbiological testing, antibiotic therapy (ranging from 5 days to 12 weeks) and often, multiple surgical interventions, almost all the patients improved immediately. Both our patient findings and the literature review, highlighted the pathogenic potential of M. hominis together with the challenges prompted by rare infectious diseases in particular for developing countries laboratories with limited diagnostic resources.

Postpneumonectomy Compression of the Mitral Annulus: Rare Vascular Complication in Sportive Patient.

Science.gov (United States)

Debeaumont, David; Bota, Susana; Baste, Jean-Marc; Bellefleur, Marie; Stepowski, Dimitri; Vincent, Florence; Bonnevie, Tristan; Gravier, Francis-Edouard; Netchitailo, Marie; Tardif, Catherine; Boutry, Alain; Muir, Jean-François; Coquart, Jérémy

2016-01-01

Numerous postpneumonectomy complications exist. We present a rare clinical case of postpneumonectomy exertional dyspnea revealing compression of the mitral annulus by the descending aorta. The patient was 42-year-old former smoker with pulmonary emphysema. He has been operated on, in 2012 (i.e., right pneumonectomy). Before the surgery, the patient was a recreational runner. However, after some months, it was difficult for the patient to resume running. Cardiopulmonary exercise testing indicated moderate exercise intolerance with important oxygen desaturation. More interestingly, a decrease of low oxygen pulse was noticed from the first ventilatory threshold with no electrical modification on the electrocardiogram. This decrease was indicative of a decline in stroke volume. The thoracic scan revealed a right pneumonectomy pocket with a liquid abnormal content. Moreover, the mediastinum had shifted toward the pneumonectomy space and the left lung was distended and emphysematous. Echocardiography revealed a major change in the mediastinal anatomy. The mitral annulus was observed to be compressed by the rear wall of the descending aorta. The diagnosis of postpneumonectomy syndrome or platypnea-orthodeoxia syndrome was ruled out in this patient. Mitral annular compression by the descending aorta is rare complication, which must be researched in patients with postpneumonectomy exertional dyspnea.

Postpneumonectomy Compression of the Mitral Annulus: Rare Vascular Complication in Sportive Patient

Directory of Open Access Journals (Sweden)

David Debeaumont

2016-01-01

Full Text Available Numerous postpneumonectomy complications exist. We present a rare clinical case of postpneumonectomy exertional dyspnea revealing compression of the mitral annulus by the descending aorta. The patient was 42-year-old former smoker with pulmonary emphysema. He has been operated on, in 2012 (i.e., right pneumonectomy. Before the surgery, the patient was a recreational runner. However, after some months, it was difficult for the patient to resume running. Cardiopulmonary exercise testing indicated moderate exercise intolerance with important oxygen desaturation. More interestingly, a decrease of low oxygen pulse was noticed from the first ventilatory threshold with no electrical modification on the electrocardiogram. This decrease was indicative of a decline in stroke volume. The thoracic scan revealed a right pneumonectomy pocket with a liquid abnormal content. Moreover, the mediastinum had shifted toward the pneumonectomy space and the left lung was distended and emphysematous. Echocardiography revealed a major change in the mediastinal anatomy. The mitral annulus was observed to be compressed by the rear wall of the descending aorta. The diagnosis of postpneumonectomy syndrome or platypnea-orthodeoxia syndrome was ruled out in this patient. Mitral annular compression by the descending aorta is rare complication, which must be researched in patients with postpneumonectomy exertional dyspnea.

Ethical aspects on rare diseases.

Science.gov (United States)

Barrera, Luis A; Galindo, Gilberto Cely

2010-01-01

In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and their families that finally lead to marginalization and exclusion of patients affected by these diseases from the health programs, even in wealthy countries. Then we address problems related to diagnosis and some ethical aspects of newborn screening, prenatal, pre-implantation diagnosis and reference centers, as well as some conditions that should be met by the persons and institutions performing such tasks. Alternatives of solutions for the most critical situations are proposed. Subsequently the orphan drugs subject is discussed not only from the availability point of view, prizes, industrial practices, and purchasing power in developed and developing societies. The research related to rare disease in children and other especially vulnerable conditions, the need for informed consent, review boards or ethics comities, confidentiality of the information, biobanks and pharmacogenetics are discussed.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Science.gov (United States)

Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie-Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie-Claire; Reboul, Marie-Pierre; Fergelot, Patricia; Lemonnier, Lydie; Mekki, Chadia; Fanen, Pascale; Bergougnoux, Anne; Sasorith, Souphatta; Raynal, Caroline; Bareil, Corinne

2017-10-01

Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes. For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator. Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis. CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles. © 2017 Wiley Periodicals, Inc.

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Science.gov (United States)

Pang, Shirley Yin-Yu; Hsu, Jacob Shujui; Teo, Kay-Cheong; Li, Yan; Kung, Michelle H W; Cheah, Kathryn S E; Chan, Danny; Cheung, Kenneth M C; Li, Miaoxin; Sham, Pak-Chung; Ho, Shu-Leong

2017-10-01

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

Health activism and the logic of connective action. A case study of rare disease patient organisations.

Science.gov (United States)

Vicari, Stefania; Cappai, Franco

2016-11-01

This exploratory work investigates the role of digital media in expanding health discourse practices in a way to transform traditional structures of agency in public health. By focusing on a sample of rare disease patient organisations as representative of contemporary health activism, this study investigates the role of digital communication in the development of (1) bottom-up sharing and co-production of health knowledge, (2) health public engagement dynamics and (3) health information pathways. Findings show that digital media affordances for patient organisations go beyond the provision of social support for patient communities; they ease one-way, two-way and crowdsourced processes of health knowledge sharing, exchange and co-production, provide personalised routes to health public engagement and bolster the emergence of varied pathways to health information where experiential knowledge and medical authority are equally valued. These forms of organisationally enabled connective action can help the surfacing of personal narratives that strengthen patient communities, the bottom-up production of health knowledge relevant to a wider public and the development of an informational and eventually cultural context that eases patients' political action.

Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.

Science.gov (United States)

Stirnadel-Farrant, Heide; Kudari, Mahesh; Garman, Nadia; Imrie, Jessica; Chopra, Bikramjit; Giannelli, Stefania; Gabaldo, Michela; Corti, Ambra; Zancan, Stefano; Aiuti, Alessandro; Cicalese, Maria Pia; Batta, Rohit; Appleby, Jonathan; Davinelli, Mario; Ng, Pauline

2018-04-06

Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment for patients with ADA-severe combined immunodeficiency (ADA-SCID) who lack a suitable matched related bone marrow donor. Existing primary immunodeficiency registries are tailored to transplantation outcomes and do not capture the breadth of safety and efficacy endpoints required by the EMA for the long-term monitoring of gene therapies. Furthermore, for extended monitoring of Strimvelis, the young age of children treated, small patient numbers, and broad geographic distribution of patients all increase the risk of loss to follow-up before sufficient data have been collected. Establishing individual investigator sites would be impractical and uneconomical owing to the small number of patients from each location receiving Strimvelis. An observational registry has been established to monitor the safety and effectiveness of Strimvelis in up to 50 patients over a minimum of 15 years. To address the potential challenges highlighted above, data will be collected by a single investigator site at Ospedale San Raffaele (OSR), Milan, Italy, and entered into the registry via a central electronic platform. Patients/families and the patient's local physician will also be able to submit healthcare information directly to the registry using a uniquely designed electronic platform. Data entry will be monitored by a Gene Therapy Registry Centre (funded by GlaxoSmithKline) who will ensure that necessary information is collected and flows between OSR, the patient/family and the patient's local healthcare provider. The Strimvelis registry sets a precedent for the safety monitoring of future gene therapies. A unique, patient-focused design has been implemented to address the challenges of long-term follow-up of patients treated with gene therapy for a rare disease. Strategies to

Shared communication processes within healthcare teams for rare diseases and their influence on healthcare professionals' innovative behavior and patient satisfaction

Directory of Open Access Journals (Sweden)

Budych Karolina

2011-04-01

Full Text Available Abstract Background A rare disease is a pattern of symptoms that afflicts less than five in 10,000 patients. However, as about 6,000 different rare disease patterns exist, they still have significant epidemiological relevance. We focus on rare diseases that affect multiple organs and thus demand that multidisciplinary healthcare professionals (HCPs work together. In this context, standardized healthcare processes and concepts are mainly lacking, and a deficit of knowledge induces uncertainty and ambiguity. As such, individualized solutions for each patient are needed. This necessitates an intensive level of innovative individual behavior and thus, adequate idea generation. The final implementation of new healthcare concepts requires the integration of the expertise of all healthcare team members, including that of the patients. Therefore, knowledge sharing between HCPs and shared decision making between HCPs and patients are important. The objective of this study is to assess the contribution of shared communication and decision-making processes in patient-centered healthcare teams to the generation of innovative concepts and consequently to improvements in patient satisfaction. Methods A theoretical framework covering interaction processes and explorative outcomes, and using patient satisfaction as a measure for operational performance, was developed based on healthcare management, innovation, and social science literature. This theoretical framework forms the basis for a three-phase, mixed-method study. Exploratory phase I will first involve collecting qualitative data to detect central interaction barriers within healthcare teams. The results are related back to theory, and testable hypotheses will be derived. Phase II then comprises the testing of hypotheses through a quantitative survey of patients and their HCPs in six different rare disease patterns. For each of the six diseases, the sample should comprise an average of 30 patients with

Analyzing rare diseases terms in biomedical terminologies

Directory of Open Access Journals (Sweden)

Erika Pasceri

2012-03-01

Full Text Available Rare disease patients too often face common problems, including the lack of access to correct diagnosis, lack of quality information on the disease, lack of scientific knowledge of the disease, inequities and difficulties in access to treatment and care. These things could be changed by implementing a comprehensive approach to rare diseases, increasing international cooperation in scientific research, by gaining and sharing scientific knowledge about and by developing tools for extracting and sharing knowledge. A significant aspect to analyze is the organization of knowledge in the biomedical field for the proper management and recovery of health information. For these purposes, the sources needed have been acquired from the Office of Rare Diseases Research, the National Organization of Rare Disorders and Orphanet, organizations that provide information to patients and physicians and facilitate the exchange of information among different actors involved in this field. The present paper shows the representation of rare diseases terms in biomedical terminologies such as MeSH, ICD-10, SNOMED CT and OMIM, leveraging the fact that these terminologies are integrated in the UMLS. At the first level, it was analyzed the overlap among sources and at a second level, the presence of rare diseases terms in target sources included in UMLS, working at the term and concept level. We found that MeSH has the best representation of rare diseases terms.

Raoultella ornithinolytica Diagnosed in a Neurointensive Patient. A Rare Case with Recovery without Antibiotics

DEFF Research Database (Denmark)

Jellinge, Marlene Ersgaard

2017-01-01

Infection with Raoultella ornithinolytica is rare and normally the infection is present in patients with underlying malignancies or chronic diseases. It is normally treated with antibiotics. In this case report, a neuro-intensive patient without malignancies or other severe chronic diseases...... was colonized with Pseudomonas aeruginosa but infected with Raoultella ornithinolyca. The patient recovered without treatment with antibiotics....

Characteristics of patients contacting a center for undiagnosed and rare diseases.

Science.gov (United States)

Mueller, Tobias; Jerrentrup, Andreas; Bauer, Max Jakob; Fritsch, Hans Walter; Schaefer, Juergen Rolf

2016-06-21

Little is known about the characteristics of patients seeking help from dedicated centers for undiagnosed and rare diseases. However, information about their demographics, symptoms, prior diagnoses and medical specialty is crucial to optimize these centers' processes and infrastructure. Using a questionnaire, structured information from 522 adult patients contacting a center for undiagnosed and rare diseases was obtained. The information included basic sociodemographic data (age, gender, insurance status), previous hospital admissions, primary symptoms of complaint and previously determined diagnosis. The majority of patients completing the questionnaire were female, 300 (57 %) vs. 222 men (43 %). The median age was 52 years (range 18-92). More than half, 309 (59 %), of our patients had never been admitted to a university hospital. Common diagnoses included other soft tissue disorders, not classified elsewhere (ICD M79, n = 63, 15.3 %), somatoform disorders (ICD F45, n = 51, 12.3 %) and other polyneuropathies (ICD G62, n=36, 8.7 %). The most frequent symptoms were general weakness (n = 180, 36.6 %) followed by arthralgia (n = 124, 25.2 %) and abdominal discomfort (n = 113, 23.0 %). The majority of patients had either internal medicine (81.3 %) and/or neurologic (37.6 %) health problems. Pain-associated diagnoses and the typical "unexplained" medical conditions (chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome) are frequent among people contacting a center dedicated to undiagnosed diseases. The chief symptoms are mostly unspecific. An interdisciplinary organizational approach involving mainly internal medicine, neurology and psychiatry/psychosomatic care is needed.

e-ENERCA: telemedicine platform for rare anaemias

Directory of Open Access Journals (Sweden)

Béatrice Gulbis

2014-12-01

Full Text Available The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org. This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better patients’ follow-up. The platform developed by e- ENERCA will be user friendly and intuitive so it will be used by the majority of professionals without requiring a specific formation. The idea of inter professional consultation is to bring medical experts together for collaborative involvement in activities that maximize the benefits and improvement in patient care.

Impact of Pathologist Involvement in Sarcoma and Rare Tumor Patient Support Groups on Facebook: A Survey of 542 Patients and Family Members.

Science.gov (United States)

Haller, Jasmine; David, Marjorie Parker; Lee, Nathan E; Shalin, Sara C; Gardner, Jerad M

2018-01-29

- Patients with rare tumors have difficulty finding reliable information about their disease. Facebook patient support groups allow patients to educate one another. - To investigate how these patients perceive the value of pathologists, both in Facebook groups and real-world patient care. - Survey links were posted in 12 Facebook patient groups: 6 with an active pathologist member (angiosarcoma, epithelioid hemangioendothelioma, epithelioid sarcoma, dermatofibrosarcoma protuberans [×2], and desmoid fibromatosis), and 6 without "active" pathologist involvement (aggressive angiomyxoma, chondrosarcoma, Ewing sarcoma, leiomyosarcoma, liposarcoma, and osteosarcoma). - A total of 542 people responded (403 were patients): 264 from groups with a pathologist, and 278 from groups without active pathologist involvement. Of groups with an active pathologist, respondents agreed the pathologist's posts helped them better understand their disease (107 of 119; 90%) and relieved some of their disease-related anxiety (92 of 119; 77%). And for these groups 98% (117 of 119) of respondents agreed that having a pathologist in their group was a good thing; 83% (192 of 232) wanted more pathologists involved. More respondents from groups with an active pathologist (219 of 236; 93%) than without one (215 of 252; 85%) agreed: "pathologists are an important part of the patient care team for patients with cancer and other rare tumors" ( P = .008). - This study is the first to evaluate the impact of pathologist interaction with Facebook patient support groups and to assess perceptions about the specialty of pathology from a large group of patients with rare tumors. Pathologist involvement in Facebook patient groups appears to positively influence patient perception of the importance of pathologists. We hope these data will encourage more pathologists to participate in Facebook patient support groups.

Detection of rare blood group, Bombay (Oh) phenotype patients and management by acute normovolemic hemodilution.

Science.gov (United States)

Shrivastava, Manisha; Navaid, Seema; Peethambarakshan, A; Agrawal, Kalpana; Khan, Athar

2015-01-01

Due to lack of correct blood grouping practices, the rare Bombay Oh phenotype may be missed, subjecting patients to the risk of severe hemolytic transfusion reaction. In the absence of blood donor registry, transfusion management of patients needing immediate surgery is a challenge. This study presents detection of rare Bombay Oh phenotype patients and their management by acute peri-operative acute normovolemic hemodilution (ANH) in a hospital from central India. Blood grouping of patients and blood donors with a standard tube method was carried out and samples identified as rare Bombay phenotype were confirmed by saliva inhibition test. Surgical management of cases needing transfusion was done by ANH, as per the British Committee for Standards in Hematology guidelines. The incidence of Bombay phenotype was 0.002% or 1 in 51,924 in the study. Amongst three cases (patients) identified as Bombay phenotype, one was Bombay Oh, Rh negative. Two cases were missed in the first instance and one case actually did not require transfusion. In the absence of a blood donor registry for Bombay phenotype, the cases needing transfusion were successfully managed with ANH in the operation theatre. A simple test like blood grouping should be done with serious intention with incorporation of both forward and reverse grouping, so that no patient receives wrong blood leading to fatal hemolysis due to transfusion. ANH is a cost-effective transfusion option for suitable patients. Appropriate clinical decision making, use of strategies to decrease peri-operative blood losses and cost-effective country based planning could be more widely applied to improve clinical transfusion practice.

[Rare diagnostics of infective endocarditis after kidney transplantation].

Science.gov (United States)

Dedinská, Ivana; Skalová, Petra; Mokáň, Michal; Martiaková, Katarína; Osinová, Denisa; Pindura, Miroslav; Palkoci, Blažej; Vojtko, Marián; Hubová, Janka; Kadlecová, Denisa; Lendová, Ivona; Zacharovský, Radovan; Pekar, Filip; Kaliská, Lucia

2016-01-01

Infective endocarditis in a patient after kidney transplantation is a serious infective complication which increases the risk of loss of the graft and also the mortality of patients. The most important predisposing factor is the immunosuppressive therapy - mainly induction immunosuppression.Material and case description: 250 patients underwent kidney transplantation throughout the period of 12 years in the Transplant Center Martin. This set of patients included 5 patients (2 %) after heart valve replacement. We present the case of a patient after kidney transplantation with development of endocarditis of the bioprosthesis of the aortic valve one month after successful kidney transplantation. Diagnostics of endocarditis by standard procedures (examination by transthoracic echocardiogram, transesophageal echocardiography, hemocultures) was unsuccessful. We rarely diagnosed endocarditis only by PET-CT examination with a consequent change of the antibiotic treatment and successful managing of this post-transplant complication. Endocarditis after kidney transplantation is a serious complication which significantly worsens the mortality of patients. The risk of development of infective endocarditis after transplantation is also increased by induction, mainly by antithymocyte globulin. Diagnostics only by PET-CT examination is rare; however, in this case it fundamentally changed the approach to the patient and led to a successful treatment.

Comparative analysis of circulating endothelial progenitor cells in age-related macular degeneration patients using automated rare cell analysis (ARCA and fluorescence activated cell sorting (FACS.

Directory of Open Access Journals (Sweden)

Emil Anthony T Say

Full Text Available BACKGROUND: Patients with age-related macular degeneration (ARMD begin with non-neovascular (NNV phenotypes usually associated with good vision. Approximately 20% of NNV-ARMD patients will convert to vision debilitating neovascular (NV ARMD, but precise timing of this event is unknown. Developing a clinical test predicting impending conversion to NV-ARMD is necessary to prevent vision loss. Endothelial progenitor cells (EPCs, defined as CD34(+VEGR2(+ using traditional fluorescence activated cell sorting (FACS, are rare cell populations known to be elevated in patients with NV-ARMD compared to NNV-ARMD. FACS has high inter-observer variability and subjectivity when measuring rare cell populations precluding development into a diagnostic test. We hypothesized that automated rare cell analysis (ARCA, a validated and FDA-approved technology for reproducible rare cell identification, can enumerate EPCs in ARMD patients more reliably. This pilot study serves as the first step in developing methods for reproducibly predicting ARMD phenotype conversion. METHODS: We obtained peripheral venous blood samples in 23 subjects with NNV-ARMD or treatment naïve NV-ARMD. Strict criteria were used to exclude subjects with known angiogenic diseases to minimize confounding results. Blood samples were analyzed in masked fashion in two separate laboratories. EPCs were independently enumerated using ARCA and FACS within 24 hours of blood sample collection, and p<0.2 was considered indicative of a trend for this proof of concept study, while statistical significance was established at 0.05. RESULTS: We measured levels of CD34(+VEGFR2(+ EPCs suggestive of a trend with higher values in patients with NV compared to NNV-ARMD (p = 0.17 using ARCA. Interestingly, CD34(+VEGR2(+ EPC analysis using FACS did not produce similar results (p = 0.94. CONCLUSIONS: CD34(+VEGR2(+ may have predictive value for EPC enumeration in future ARCA studies. EPC measurements in a small sample

Comparative analysis of circulating endothelial progenitor cells in age-related macular degeneration patients using automated rare cell analysis (ARCA) and fluorescence activated cell sorting (FACS).

Science.gov (United States)

Say, Emil Anthony T; Melamud, Alex; Esserman, Denise Ann; Povsic, Thomas J; Chavala, Sai H

2013-01-01

Patients with age-related macular degeneration (ARMD) begin with non-neovascular (NNV) phenotypes usually associated with good vision. Approximately 20% of NNV-ARMD patients will convert to vision debilitating neovascular (NV) ARMD, but precise timing of this event is unknown. Developing a clinical test predicting impending conversion to NV-ARMD is necessary to prevent vision loss. Endothelial progenitor cells (EPCs), defined as CD34(+)VEGR2(+) using traditional fluorescence activated cell sorting (FACS), are rare cell populations known to be elevated in patients with NV-ARMD compared to NNV-ARMD. FACS has high inter-observer variability and subjectivity when measuring rare cell populations precluding development into a diagnostic test. We hypothesized that automated rare cell analysis (ARCA), a validated and FDA-approved technology for reproducible rare cell identification, can enumerate EPCs in ARMD patients more reliably. This pilot study serves as the first step in developing methods for reproducibly predicting ARMD phenotype conversion. We obtained peripheral venous blood samples in 23 subjects with NNV-ARMD or treatment naïve NV-ARMD. Strict criteria were used to exclude subjects with known angiogenic diseases to minimize confounding results. Blood samples were analyzed in masked fashion in two separate laboratories. EPCs were independently enumerated using ARCA and FACS within 24 hours of blood sample collection, and ptrend for this proof of concept study, while statistical significance was established at 0.05. We measured levels of CD34(+)VEGFR2(+) EPCs suggestive of a trend with higher values in patients with NV compared to NNV-ARMD (p = 0.17) using ARCA. Interestingly, CD34(+)VEGR2(+) EPC analysis using FACS did not produce similar results (p = 0.94). CD34(+)VEGR2(+) may have predictive value for EPC enumeration in future ARCA studies. EPC measurements in a small sample size were suggestive of a trend in ARMD using ARCA but not FACS. ARCA could be a

Kaposi sarcoma in an HIV-negative Tunisian patient: A rare cause of metatarsalgia

Directory of Open Access Journals (Sweden)

A. Ben Tekaya

2017-01-01

Conclusion: In a patient presenting with metatarsalgia without a commonly detected cause, it is mandatory to search for other lesions that may point to a rare diagnosis as KS which is famous for involvement of the metatarsal bone.

Development and pilot testing of a patient-participatory pressure ulcer prevention care bundle.

Science.gov (United States)

Gillespie, Brigid M; Chaboyer, Wendy; Sykes, Mark; O'Brien, Jennifer; Brandis, Susan

2014-01-01

This study developed and piloted a patient-centered pressure ulcer prevention care bundle for adult hospitalized patients to promote patient participation in prevention. The care bundle had 3 core messages: (1) keep moving, (2) care for your skin, and (3) ensure a good diet. A brief video, combined brochure/checklist, and poster were developed as training resources. Patient evaluation identified benefits of the care bundle; however, the combined checklist/brochure was rarely used.

The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis.

Science.gov (United States)

Yucel, Cem; Budak, Salih; Kisa, Erdem; Celik, Orcun; Kozacioglu, Zafer

2018-01-01

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry

Directory of Open Access Journals (Sweden)

Len Woodward

2016-11-01

Full Text Available Abstract Background Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that collect data from patients can increase knowledge of the disease’s natural history, evaluate clinical therapies, monitor drug safety, and measure quality of care. The active participation of patients is expected to optimise rare-disease management and improve patient outcomes. However, few reports address the type and frequency of interactions involving patients, and what research input patient groups have. Here, we describe a collaboration between an international group of patient organisations advocating for patients with atypical haemolytic uraemic syndrome (aHUS, the aHUS Alliance, and an international aHUS patient registry (ClinicalTrials.gov NCT01522183. Results The aHUS Registry Scientific Advisory Board (SAB invited the aHUS Alliance to submit research ideas important to patients with aHUS. This resulted in 24 research suggestions from patients and patient organisations being presented to the SAB. The proposals were classified under seven categories, the most popular of which were understanding factors that cause disease manifestations and learning more about the clinical and psychological/social impact of living with the disease. Subsequently, aHUS Alliance members voted for up to five research priorities. The top priority was: “What are the outcomes of a transplant without eculizumab and what non-kidney damage is likely in patients with aHUS?”. This led directly to the initiation of an ongoing analysis of the data collected in the Registry on patients with kidney transplants. Conclusion This collaboration resulted in several topics proposed by the aHUS Alliance being selected as priority activities for the aHUS Registry, with one new analysis already underway. A clear pathway was established for engagement

Human hypervariable sequences in risk assessment: rare Ha-ras alleles in cancer patients

International Nuclear Information System (INIS)

Krontiris, T.G.; DiMartino, N.A.; Mitcheson, H.D.; Lonergan, J.A.; Begg, C.; Parkinson, D.R.

1987-01-01

A variable tandem repeat (VTR) is responsible for the hyperallelism one kilobase 3' to the human c-Ha-ras-1 (Ha-ras) gene. Thirty-two distinct restriction fragments, comprising 3 allelic classes by frequency of occurrence, have thus far been detected in a sample size of approximately 800 caucasians. Rare Ha-ras alleles, 21 in all, are almost exclusively confined to the genomes of cancer patients. From their data the authors have computed the relative cancer risk associated with possession of a rare Ha-ras allele to be 27. To understand the molecular basis for this phenomenon, they have begun to clone Ha-ras fragments from nontumor DNA of cancer patients. They report here the weak activation, as detected by transfection and transformation of NIH 3T3 mouse cells, of two Ha-ras genes which were obtained from lymphocyte DNA of a melanoma patient. They have mapped the regions that confer this transforming activity to the fragment containing the VTR in one Ha-ras clone and the fragment containing gene coding sequences in the other

Laryngeal Chondrosarcoma as a Rare Cause of Subglottic Stenosis

Directory of Open Access Journals (Sweden)

Kerem Kökoğlu

2014-01-01

Full Text Available Laryngeal chondrosarcoma (CS is a very rare entity. It is usually seen in 50–80-year olds. It is developed from cricoid cartilage largely. Patients have laryngeal CS complaint of respiratuvar distress, dysphonia, and dysphagia generally. A submucous mass is usually seen in physical examination with an intact mucosa. Distant metastasis is rare in CSs. Main treatment is surgical excision. An 82-year-old patient who has respiratuvar distress is presented in this paper and laryngeal CS is reviewed in the light of the literature.

Detection of rare blood group, Bombay (Oh phenotype patients and management by acute normovolemic hemodilution

Directory of Open Access Journals (Sweden)

Manisha Shrivastava

2015-01-01

Full Text Available Background: Due to lack of correct blood grouping practices, the rare Bombay Oh phenotype may be missed, subjecting patients to the risk of severe hemolytic transfusion reaction. In the absence of blood donor registry, transfusion management of patients needing immediate surgery is a challenge. This study presents detection of rare Bombay Oh phenotype patients and their management by acute peri-operative acute normovolemic hemodilution (ANH in a hospital from central India. Materials and Methods: Blood grouping of patients and blood donors with a standard tube method was carried out and samples identified as rare Bombay phenotype were confirmed by saliva inhibition test. Surgical management of cases needing transfusion was done by ANH, as per the British Committee for Standards in Hematology guidelines. Results: The incidence of Bombay phenotype was 0.002% or 1 in 51,924 in the study. Amongst three cases (patients identified as Bombay phenotype, one was Bombay Oh, Rh negative. Two cases were missed in the first instance and one case actually did not require transfusion. In the absence of a blood donor registry for Bombay phenotype, the cases needing transfusion were successfully managed with ANH in the operation theatre. Conclusion: A simple test like blood grouping should be done with serious intention with incorporation of both forward and reverse grouping, so that no patient receives wrong blood leading to fatal hemolysis due to transfusion. ANH is a cost-effective transfusion option for suitable patients. Appropriate clinical decision making, use of strategies to decrease peri-operative blood losses and cost-effective country based planning could be more widely applied to improve clinical transfusion practice.

Rare case of solitary plasmacytoma of the skull in a young male patient

Directory of Open Access Journals (Sweden)

Swati Singh

2017-04-01

Full Text Available Solitary plasmacytoma of bone without signs of multiple myeloma is a rare entity. It usually presents as an osteolytic lesion in the axial skeleton of an elderly patient. Here, we report a case of solitary plasmacytoma in the skull of a young male patient which emphasises the need to consider it in the differential diagnosis of a destructive calvarial mass lesion even in this age group.

Resources, challenges and way forward in rare mitochondrial diseases research.

Science.gov (United States)

Rajput, Neeraj Kumar; Singh, Vipin; Bhardwaj, Anshu

2015-01-01

Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

OpenAIRE

Barbara De La Salle; Andrea Mosca; Renata Paleari; Vasileios Rapanakis; Keith Hyde

2013-01-01

Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias) has established a list of core laboratory tests that are used in the diagnosis of rare and co...

A technology development for the purification and utilization of rare metals

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-12-01

The electronics and semi-conductor industries require the use of high-purity rare metals and their alloys more than ever. High purity metals such as titanium, molybdenum, nickel and cobalt are used in the manufacture of gate electrodes, interconnectors, and metal barriers due to their excellent properties. However, domestic production of these rare metals has not been achieved due mainly to the low metal content in their ore in the nation. For these reasons, a strategy for the value addition of rare metal sponges by processes like vacuum melting and by the remelting of expensive scraps should be seek to meet the growing domestic demand and to reduce the import from foreign countries. The major sponge-melting methods are VAR (Vacuum Arc Remelting), VIM (Vacuum Induction Melting), Plasma melting, PAM (Plasma Arc Melting), and EBM (Electron Beam Melting) in the order of development sequence. Among these, VAR obtained most wide application due to their lower cost and ease of producing large ingots. However, the method suffers from the difficulties in the control of melting rate, segregation of certain elements including interstitial impurities during the preparation of electrode. The recent trend for more strict control of impurities in electronics industries forces titanium metal producers to use more sophisticated equipment like EBM. The objectives for this research are two fold : One is to develop a titanium purification process utilizing the EBM method. The other is to develop a multi-stage cascade process of supported liquid membrane (SLM) for separation and purification of rare metals such as cobalt and nickel. (author). 50 refs., 18 tabs., 39 figs.

Rare earths

Energy Technology Data Exchange (ETDEWEB)

Cranstone, D A

1979-01-01

Rare earth elements are commonly extracted from the minerals monazite, bastnaesite, and xenotine. New uses for these elements are constantly developing; they have found applications in glass polishing, television tube phosphors, high-strength low-alloy steels, magnets, catalysts, refractory ceramics, and hydrogen sponge alloys. In Canada, rare earths have been produced as byproducts of the uranium mining industry, but there was no production of rare earths in 1978 or 1979. The world sources of and markets for the rare earth elements are discussed.

Neuroleptic Malignant Syndrome in a Patient with Tongue Cancer: A Report of a Rare Case

Directory of Open Access Journals (Sweden)

Osamu Baba

2013-01-01

Full Text Available Background. Neuroleptic malignant syndrome (NMS is a rare but life-threatening complication of neuroleptic drugs, which are used widely in head and neck cancer (HANC patients who develop delirium. Methods and Results. Postoperative delirium in a 39-year-old man with tongue cancer was treated with haloperidol and chlorpromazine. Three days after the first administration of antipsychotics, the patient exhibited elevated body temperature, autonomic and extrapyramidal symptoms, and impaired consciousness. A definitive diagnosis was made using the research diagnostic criteria for NMS in the DSM-IV, and the antipsychotics were immediately discontinued. The patient was given dantrolene and bromocriptine to treat the NMS. The patient’s hyperthermia, elevated creatinin kinase (CK, and muscle rigidity improved gradually, with all symptoms of NMS resolving completely by 13 days after the diagnosis. Conclusions. HANC surgeons must be alert for early signs of NMS and use antipsychotics conservatively to avoid NMS and its potentially fatal outcome.

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.

Science.gov (United States)

Hamdi-Rozé, Houda; Beaumont-Epinette, Marie-Pascale; Ben Ali, Zeineb; Le Lan, Caroline; Loustaud-Ratti, Véronique; Causse, Xavier; Loreal, Olivier; Deugnier, Yves; Brissot, Pierre; Jouanolle, Anne-Marie; Bardou-Jacquet, Edouard

2016-12-01

p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202-1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A rare case of Shewanella putrefaciens bacteremia in a patient of road traffic accident

Directory of Open Access Journals (Sweden)

Ritesh Ranjan

2017-01-01

Full Text Available Shewanella putrefaciens rarely causes human infection. These are mostly found in environment and food stuffs. Shewanella are often found in mixed culture. It has been implicated in cellulitis, otitis media, and septicemia. It may be found in respiratory tract, urine, feces, and pleural fluid. There is no definite guideline for therapeutic option. In general, these are susceptible to various antimicrobial agents but are often resistant to penicillin and cephalothin. We report a rare case of bacteremia by S. putrefaciens in a patient of head injury with polytrauma after a road traffic accident.

Rare vertebral metastasis in a case of Hereditary Paraganglioma

Directory of Open Access Journals (Sweden)

da Silva Manuel Eduardo

2012-09-01

Full Text Available Abstract Paragangliomas are rare tumours with a prevalence of 1/10000 to 1/30000. Tumors arising from the paraganglia are characteristically of low malignant potential. Vertebral metastases are exceedingly rare, and only isolated case reports have described them. The authors present the clinical course of a 47 years-old female patient with a familial paraganglioma [PGL] with vertebral metastastization, who underwent an intralesional tumor excision and corpectomy. Genetic screening demonstrated a new germinal frameshift mutation of the SDHB exon 6 [c.587-591DelC]. After surgery there was normalization of the analytical parameters and imagiologic screening. One year later she presented a new image in the the pedicle of T11 on the contralateral side of the surgical incision. She performed 2 treatments with MIBG and 1 cicle of radiotherapy that made the new lesion regress. Currently the patient does not present any clinical or analytical evidence of new metastasis. This case outlines the clinical course of a patient with a PGL syndrome for whom a rare vertebral metastasis was diagnosed. It highlights the importance of identifying patients with germline SDHB mutations, as these patients are at a high risk of developing malignant disease.

Expert services for rare anaemias across Europe

Directory of Open Access Journals (Sweden)

Beatrice Gulbis

2013-03-01

Full Text Available New challenges and priorities are given in the EU Health programme 2007-2013. The objectives of the programme are to improve citizens’ health security, to promote health to improve prosperity and solidarity, and to generate and disseminate health knowledge. If challenges and priorities have been defined globally for rare diseases by the European Commission, persons involved in rare anaemias have taken the opportunity to contribute to the empowerment of patients with rare anaemias. One of the ENERCA partners objectives was the mapping of existing centres that take care of patients with rare anaemias in Europe. Another goal was to obtain a directory of facilities available per centre for patients with rare anaemias. We thought that with those results it could realistically help to define a consensus regarding the criteria to be recognised as a centre of expertise for haemoglobinopathies and very rare anaemias.

Research and development of tungsten electrodes added with rare earth oxides

International Nuclear Information System (INIS)

Zuoren Nie; Ying Chen; Meiling Zhou; Tieyong Zuo

2001-01-01

The recent research and development of tungsten electrodes used in TIG and Plasma technologies are introduced, and the tungsten materials as well as the effects of rare earth oxides are specially discussed. in W-La 2 O 3 , W-CeO 2 , W-Y 2 O 3 and W-ThO 2 electrode materials, the W-2.2mass%La 2 O 3 electrode exhibited the best properties when the current is of little or middle volume, and when the electrodes are used in large current, the W-Y 2 O 3 electrode is the best. By a comparative study between the tungsten electrodes activated with single metal oxides, as above-mentioned, and those containing two or three rare earth oxides, namely La 2 O 3 , CeO 2 and Y 2 O 3 , it was indicated that the welding arc properties of the tungsten electrodes activated with combined rare earth oxides additions is superior than that of the electrodes containing single oxides as above mentioned. It was also shown that the operating properties of tungsten electrodes depend intensively on the rare earth oxides contained in the electrodes, and the actions of rare earth oxides during arcing are the most important factors to the electrodes' operating properties, temperature, work function as well as the arc stability. (author)

[Patients with variations of sex development : an example of interdisciplinary care].

Science.gov (United States)

Phan-Hug, Franziska; Kraus, Cynthia; Paoloni-Giacobino, Ariane; Fellmann, Florence; Typaldou, Sophia-Anna; Ansermet, François; Alamo, Leonor; Eggert, Nadja; Pelet, Odile; Vial, Yvan; Muehlethaler, Vincent; Birraux, Jacques; Ramseyer, Pascal; Renteria, Saira-Christine; Dwyer, Andrew; Pitteloud, Nelly; Meyrat, Blaise J

2016-11-09

The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases. According to the recommendations of the Swiss National Ethical Commission, we shall use the term « Variation of Sex Development » rather than « Disorder of Sex Development » in this publication. This article addresses the care of DSD patients throughout development from the point of view of specialists in complementary fields.

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Directory of Open Access Journals (Sweden)

Ana Töpf

Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

A technology development for the purification and utilization of rare metals

Energy Technology Data Exchange (ETDEWEB)

Rhee, Kang In; Yu, Hyo Shin; Youn, In Ju; Choi, Good Sun; Lee, Churl Kyoung; Seo, Chang Youl; Yang, Dong Hyo [Korea Inst. of Geology Mining and Materials, Taejon (Korea, Republic of)

1995-12-01

The demand for rare metal and their alloys has dramatically increased due to the rapid growth of electronics industries. The clean metals such as molybdenum, nickel and cobalt are used in manufacturing of gate electrodes, interconnects, and barrier metal because of their superior properties. Despite the strong demand, the production of these metals in our nation has not made. And all products related with these have to be imported from other developed countries with high cost. Furthermore, some deposits and by-product exist, and the development of production of metal becomes to be important for the viewpoint of the supply national electronics industries with these materials as well as the increase in the added value of raw materials. Electron beam melting technique is the advantages for the ingot-making of molybdenum. In this melting process, the energy of highly accelerated electrons can be transferred to thermal energy and easily controlled to make various sizes and types of molybdenum ingot. In addition, membrane technology plays an important role to separation and purification of rare metals. Therefore, the objective for this research is to make the molybdenum ingot using this electron beam melting process and develop the technology of the manufacture of the sputtering target which can be used for semiconductor industries and a multi-stage cascade process of the supported liquid membrane(SLM) for separation and purification of rare metals such as cobalt and nickel. (author). 30 refs., 48 figs., 9 tabs.

Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis.

Science.gov (United States)

Shen, Feichen; Liu, Sijia; Wang, Yanshan; Wang, Liwei; Afzal, Naveed; Liu, Hongfang

2017-01-01

In the USA, rare diseases are defined as those affecting fewer than 200,000 patients at any given time. Patients with rare diseases are frequently misdiagnosed or undiagnosed which may due to the lack of knowledge and experience of care providers. We hypothesize that patients' phenotypic information available in electronic medical records (EMR) can be leveraged to accelerate disease diagnosis based on the intuition that providers need to document associated phenotypic information to support the diagnosis decision, especially for rare diseases. In this study, we proposed a collaborative filtering system enriched with natural language processing and semantic techniques to assist rare disease diagnosis based on phenotypic characterization. Specifically, we leveraged four similarity measurements with two neighborhood algorithms on 2010-2015 Mayo Clinic unstructured large patient cohort and evaluated different approaches. Preliminary results demonstrated that the use of collaborative filtering with phenotypic information is able to stratify patients with relatively similar rare diseases.

Rare diseases and orphan drugs

Directory of Open Access Journals (Sweden)

Domenica Taruscio

2011-01-01

Full Text Available According to the Regulation (EC N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare if taken individually but they affect a significant proportion of the European population when considered as a single group. Several initiatives have been undertaken at international, European and national level to tackle public health as well as research issues related to the prevention, diagnosis, treatment and surveillance of these diseases. The development of innovative and effective medical products for their diagnosis and treatment is frequently hampered by several factors, including the limited knowledge of their natural history, the difficulties in setting up clinical studies due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors due to the restricted market opportunities. Therefore, incentives and other facilitations have been adopted in many parts of the world, including in the EU, in order to facilitate the development and commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates mainly the European initiatives and will discuss the problematic and controversial aspects surrounding orphan drugs. Finally, activities and measures adopted in Italy are presented.

Late onset ‘en coup de sabre’ following trauma: Rare presentation of a rare disease

OpenAIRE

Tasleem Arif; Imran Majid; Mir Laieq Ishtiyaq Haji

2015-01-01

En coup de sabre (linear scleroderma of face) is a rare type of morphea (localized scleroderma) involving frontoparietal area of the forehead and scalp. Many triggering factors have been implicated in the development of morphea like trauma, immobilization, bacille Calmette–Guérin (BCG) vaccination, injections of vitamin K, mechanical compression from clothing, etc. Linear scleroderma primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age....

Squamous cell carcinoma developing in a cutaneous lichen planus lesion: a rare case.

Science.gov (United States)

Ghosh, Saptarshi; Kotne, Sivasankar; Ananda Rao, P B; Turlapati, S P V; Kumar Soren, Dillip

2014-01-01

Lichen planus is a benign disorder characterized by an itchy, noninfectious skin rash. Though lichen planus is a common papulosquamous disorder affecting about 1-2% of the population, neoplastic transformation of cutaneous lichen planus lesions occurs very rarely and should be borne in mind while treating nonhealing longstanding lesions of lichen planus. Studies suggest an estimated 0.3-3% risk of malignancy in patients with oral lichen planus, however, cutaneous lichen planus does not carry an increased risk of malignant degeneration. We present a case of a 36-year-old male with a 10-year-long history of hypertrophic lichen planus who presented with a nonhealing ulcer in the left popliteal fossa. The patient underwent wide local excision with superficial skin grafting. Postoperative histopathological examination revealed verrucous squamous cell carcinoma complicating lichen planus. In view of underlying structure involvement, adjuvant radiation therapy was given. This case is being reported to emphasize the infrequent possibility of development of malignancy in cutaneous lichen planus, especially if it presents as a longstanding, nonhealing, itchy lesion with patchy areas of depigmentation in the lower limbs.

Development of rare earth regenerator materials in fine wire form

International Nuclear Information System (INIS)

Wong, T.; Seuntjens, J.M.

1997-01-01

The use of rare earth metals, both in the pure and alloyed state, have been examined for use as regenerators in cryocooler applications and as the working material in active magnetic refrigerators. In both applications there is a requirement for the rare earth material to have a constant and uniform cross section, an average size on the order of 50-200 microns in diameter, and low levels of impurities. Existing powder production methods have drawbacks such as oxygen contamination, non-uniform size, inconsistent cross sections, and low production yields. A novel approach for the production of rare earth metals and alloys in fine wire form has been developed. This is accomplished by assembling a copperjacket and niobium barrier around a RE ingot, extruding the assembly, and reducing it with standard wire drawing practices. Strand anneals are utilized between drawing passes when necessary in order to recrystallize the RE core and restore ductility. The copperjacket is removed by chemical means at final size, leaving the Nb barrier in place as a protective coating. This process has been applied to gadolinium, dysprosium and a GdDy alloy

The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases

Directory of Open Access Journals (Sweden)

M. K. Javaid

2016-11-01

Full Text Available Abstract Background Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. This report describes the structure of the Rare UK Diseases Study (RUDY platform that aims to improve research processes and address many of the challenges of carrying out rare musculoskeletal disease research. RUDY is an internet-based platform with online registration, initial verbal consent, online capture of patient reported outcome measures and events within a dynamic consent framework. The database structure, security and governance framework are described. Results There have been 380 participants recruited into RUDY with completed questionnaire rates in excess of 50 %. There has been one withdrawal and two participants have amended their consent options. Conclusions The strengths of RUDY include low burden for the clinical team, low research administration costs with high participant recruitment and ease of data collection and access. This platform has the potential to be used as the model for other rare diseases globally.

Tea Cup in the brain, a rare case of penetrating brain injury in pediatric patient

Directory of Open Access Journals (Sweden)

Sharma Arvind

2016-03-01

Full Text Available Head injuries are very common in children. All over the world, the most common mechanism is fall. These injuries are more prevalent in developing countries due to lack of education, poverty, lack of standard and scientific ways to child upbringing. Penetrating injuries in pediatric patients is extremely uncommon and usually occur due to sharp objects like knife, screw driver, drills, nails. We are reporting a rare case of a child with penetrating head injury due to tea cup, very commonly used crockery in every house hold. To the best of our knowledge, no similar case has ever been reported in world literature. Our case also emphasized the need for educating people about child care.

The Patient Educator Presentation in Dental Education: Reinforcing the Importance of Learning About Rare Conditions.

Science.gov (United States)

Edwards, Paul C; Graham, Jasmine; Oling, Rebecca; Frantz, Kate E

2016-05-01

The aim of this study was to determine whether a patient educator presentation (PEP) on pemphigus vulgaris would increase second-year dental students' awareness of the importance of learning about rare conditions and improve their retention of rare disease knowledge. The study involved students' subjective assessments of a PEP experience at two U.S. dental schools. In this mixed methods study, cross-sectional data were obtained by surveys and in-depth interviews. Questions focused on students' assessment of the messages acquired from the PEP and its likely impact on their future clinical care. At University 1, students completed paper surveys with open-ended questions and participated in a focus group. At University 2, students completed an online survey consisting of rating scale and open-ended questions. Responses to open-ended questions were categorized into themes. At University 1, 79 students (out of a possible 102; response rate 77.5%) completed the survey, and an additional ten students participated in a focus group. At University 2, 30 students (out of a possible 104; response rate 28.8%) completed the survey. At Universities 1 and 2, 88% and 100%, respectively, of respondents stated the PEP would influence their future clinical decision making. The vast majority of respondents (94% and 100% at University 1 and University 2, respectively) were of the opinion that the personal testimonial from a patient would help them recall information about pemphigus vulgaris in five years' time. Respondents from both universities commented that the PEP emphasized the importance of not dismissing a patient's concerns. These results suggest that a presentation by a patient with a rare condition can be an effective educational tool for preclinical dental students.

Rare diseases in clinical endocrinology: a taxonomic classification system.

Science.gov (United States)

Marcucci, G; Cianferotti, L; Beck-Peccoz, P; Capezzone, M; Cetani, F; Colao, A; Davì, M V; degli Uberti, E; Del Prato, S; Elisei, R; Faggiano, A; Ferone, D; Foresta, C; Fugazzola, L; Ghigo, E; Giacchetti, G; Giorgino, F; Lenzi, A; Malandrino, P; Mannelli, M; Marcocci, C; Masi, L; Pacini, F; Opocher, G; Radicioni, A; Tonacchera, M; Vigneri, R; Zatelli, M C; Brandi, M L

2015-02-01

Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.

Late onset ‘en coup de sabre’ following trauma: Rare presentation of a rare disease

Directory of Open Access Journals (Sweden)

Tasleem Arif

2015-01-01

Full Text Available En coup de sabre (linear scleroderma of face is a rare type of morphea (localized scleroderma involving frontoparietal area of the forehead and scalp. Many triggering factors have been implicated in the development of morphea like trauma, immobilization, bacille Calmette–Guérin (BCG vaccination, injections of vitamin K, mechanical compression from clothing, etc. Linear scleroderma primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age. In this article, we describe a case of 26 year old female who presented with a three months history of brownish indurated plaque of skin on the frontal and forehead regions of the head. The patient gave a history of trauma at the same site six years back. The diagnosis of morphea was made clinically supported by histopathological features of the skin biopsy. Her neurological examination was normal. ANA was negative. Brain MRI didn’t reveal any abnormality. She was treated with topical tacrolimus 0.1% ointment. The late onset en coup de sabre is a rare presentation and hence reported.

Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

Science.gov (United States)

Song, Peipei; He, Jiangjiang; Li, Fen; Jin, Chunlin

2017-02-01

China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases - a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.

Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

Directory of Open Access Journals (Sweden)

Abhijeet Alok

2015-01-01

Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

State of rare disease management in Southeast Asia.

Science.gov (United States)

Shafie, Asrul Akmal; Chaiyakunapruk, Nathorn; Supian, Azuwana; Lim, Jeremy; Zafra, Matt; Hassali, Mohamed Azmi Ahmad

2016-08-02

Rare diseases, also referred to as orphan diseases, are characterised by their low prevalence with majority of them are chronically debilitating and life threatening. Given the low prevalence and the widely dispersed but very small patient base for each disease, there may often be a disproportion in the availability of treatments and resources to manage patients, spur research and train experts. This is especially true in Southeast Asian countries that are currently in the process of implementing or revising their universal health coverage schemes. This paper aims to examine the status of rare disease management in Southeast Asian countries. It will serve as the basis for a more active discussion on how countries in the region can address an under-recognised rare disease burden and enhance national and regional capacities. The study consists of literature reviews and key stakeholders interviews in six focus countries, including the Philippines, Singapore, Malaysia, Indonesia, Vietnam, and Thailand and five countries as best practice, comprising of France, Canada, Australia, Taiwan, and South Korea. Rare disease management initiatives across each country were examined based on the World Health Organization's framework for action in strengthening health systems. The results suggest rare disease management remains challenging across Southeast Asia, as many of the focus countries face fundamental issues from basic healthcare systems to funding. Nonetheless, there are substantial improvement opportunities, including leveraging best practices from around the world and organising a multi-stakeholder and regional approach and strategy. Southeast Asian countries have made significant progress in the management of rare disease, but there remain key areas for substantial development opportunities.

Innovative research methods for studying treatments for rare diseases: methodological review.

Science.gov (United States)

Gagne, Joshua J; Thompson, Lauren; O'Keefe, Kelly; Kesselheim, Aaron S

2014-11-24

To examine methods for generating evidence on health outcomes in patients with rare diseases. Methodological review of existing literature. PubMed, Embase, and Academic Search Premier searched for articles describing innovative approaches to randomized trial design and analysis methods and methods for conducting observational research in patients with rare diseases. We assessed information related to the proposed methods, the specific rare disease being studied, and outcomes from the application of the methods. We summarize methods with respect to their advantages in studying health outcomes in rare diseases and provide examples of their application. We identified 46 articles that proposed or described methods for studying patient health outcomes in rare diseases. Articles covered a wide range of rare diseases and most (72%) were published in 2008 or later. We identified 16 research strategies for studying rare disease. Innovative clinical trial methods minimize sample size requirements (n=4) and maximize the proportion of patients who receive active treatment (n=2), strategies crucial to studying small populations of patients with limited treatment choices. No studies describing unique methods for conducting observational studies in patients with rare diseases were identified. Though numerous studies apply unique clinical trial designs and considerations to assess patient health outcomes in rare diseases, less attention has been paid to innovative methods for studying rare diseases using observational data. © Gagne et al 2014.

Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

Science.gov (United States)

Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

2017-08-01

Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

Primary Iliac Venous Leiomyosarcoma: A Rare Cause of Deep Vein Thrombosis in a Young Patient

Directory of Open Access Journals (Sweden)

Nelson Oliveira

2011-01-01

Full Text Available Introduction. Primary venous tumours are a rare cause of deep vein thrombosis. The authors present a case where the definitive diagnosis was delayed by inconclusive complementary imaging. Clinical Case. A thirty-seven-year-old female presented with an iliofemoral venous thrombosis of the right lower limb. The patient had presented with an episode of femoral-popliteal vein thrombosis five months before and was currently under anticoagulation. Phlegmasia alba dolens installed progressively, as thrombus rapidly extended to the inferior vena cava despite systemic thrombolysis and anticoagulation. Diagnostic imaging failed to identify the underlying aetiology of the deep vein thrombosis. The definitive diagnosis of primary venous leiomyosarcoma was reached by a subcutaneous abdominal wall nodule biopsy. Conclusion. Primary venous leiomyosarcoma of the iliac vein is a rare cause of deep vein thrombosis, which must be considered in young patients with recurrent or refractory to treatment deep vein thrombosis.

A rare complication of secondary hyperparathyroidism: Brown tumor of the maxilla and mandible

International Nuclear Information System (INIS)

Sumer, Pinar A.; Sumer, Mahmut; Arik, Nurol; Karogoz, Filiz

2004-01-01

Brown tumors are focal bone lesions caused by increased osteoclastic activity and fibroblastic proliferation encountered in primary or more rarely secondary hyperparathyroidism. Ninety-two percent of the patients undergoing dialysis develop secondary hyperparathyroidism. Of these, approximately 1.5% develops brown tumors. Brown tumors of hyperparathyroidism may appear in any bone but are frequently found in the facial bones and jaws, particularly in long-standing cases of the disease. As it becomes common for hyperparathyroidism to be detected earlier during the disease, the bony manifestations of the disease are rarely seen. The following report describes a case of brown tumor of the maxilla and mandible in a patient with renal insufficiency. This patient presented multiple skeletal lesions, which are uncommonly seen now a days. (author)

Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

Science.gov (United States)

Özdemir, Özmert Ma; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer

2016-09-01

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS. © 2016 Japan Pediatric Society.

Christ siemens touraine syndrome: A rare case report

Directory of Open Access Journals (Sweden)

N Retnakumari

2016-01-01

Full Text Available Christ-Siemens-Touraine (CST is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

Christ Siemens Touraine syndrome: A rare case report.

Science.gov (United States)

Retnakumari, N; Varghese, Manuja; Kannan, V P

2016-01-01

Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

New perspectives on rare connective tissue calcifying diseases.

Science.gov (United States)

Rashdan, Nabil A; Rutsch, Frank; Kempf, Hervé; Váradi, András; Lefthériotis, Georges; MacRae, Vicky E

2016-06-01

Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. warfarin, glucocorticoids) and inherited rare genetic diseases such as pseudoxanthoma elasticum (PXE), generalized arterial calcification in infancy (GACI) and Keutel syndrome (KTLS). This review explores our current knowledge of these rare inherited CTCs, and highlights the most promising avenues for pharmaceutical intervention. Advancing our understanding of rare inherited forms of CTC is not only essential for the development of therapeutic strategies for patients suffering from these diseases, but also fundamental to delineating the mechanisms underpinning acquired chronic forms of CTC. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Effects of rare earth elements La and Yb on the morphological and functional development of zebrafish embryos

Institute of Scientific and Technical Information of China (English)

Jun'an Cui; Zhiyong Zhang; Wei Bai; Ligang Zhang; Xiao He; Yuhui Ma; Yan Liu; Zhifang Chai

2012-01-01

In recent years,with the wide applications and mineral exploitation of rare earth elements,their potential environmental and health effects have caused increasing public concern.Effect of rare earth elements La and Yb on the morphological and functional development of zebrafish embryos were studied.The embryos were exposed to La3+ or Yb3+ at 0,0.01,0.1,0.3,0.5 and 1.0 mmol/L,respectively.Early life stage parameters such as egg and embryo mortality,gastrula development,tail detachment,eyes,somite formation,circulatory system,pigmentation,malformations,hatching rate,length of larvae and mortality were investigated.The results showed La3+ and Yb3+ delayed zebrafish embryo and larval development,decreased survival and hatching rates,and caused tail malformation in a concentration-dependent way.Moreover,heavy rare-earth ytterbium led to more severe acute toxicity of zebrafish embryo than light rare-earth lanthanum.

Kindler′s syndrome: A rare case report

Directory of Open Access Journals (Sweden)

Neelam Suman

2014-01-01

Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

Directory of Open Access Journals (Sweden)

Taha Faruqi

2014-01-01

Full Text Available A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

Rare Presentation of Metastatic Cystic Trophoblastic Tumor in a Patient Without Prior Chemotherapy

Directory of Open Access Journals (Sweden)

Michael L. Wang

2017-07-01

Full Text Available Cystic trophoblastic tumor (CTT is a rare testicular germ cell tumor (GCT predominantly seen in post-chemotherapy patients. It is prognostically similar to teratoma and requires no additional chemotherapy in the absence of a nonteratomatous GCT component. We report a case of metastatic CTT in a patient with primary testicular teratoma without prior chemotherapy. Retroperitoneal lymph node metastases contained teratoma, embryonal carcinoma, and CTT. The CTT was β-hCG positive and SALL4 negative by immunohistochemistry (IHC. CTT can arise in metastatic testicular GCT in treatment naïve patients. An important differential diagnosis is choriocarcinoma due to treatment implications, and SALL4 IHC may help.

Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review.

Science.gov (United States)

Delisle, Vanessa C; Gumuchian, Stephanie T; Rice, Danielle B; Levis, Alexander W; Kloda, Lorie A; Körner, Annett; Thombs, Brett D

2017-06-01

Support groups are an important resource for many people living with rare diseases. The perceived benefits of participating in support groups for people with rare diseases and factors that may influence the ability to successfully establish and maintain these groups are not well understood. Thus, the objective of this scoping review was to provide a mapping of the available evidence on the (1) benefits or perceived benefits of participating in rare disease support groups and (2) barriers and facilitators of establishing and maintaining these groups. CINAHL and PubMed were searched from January 2000 to August 2015, with no language restrictions. Publications that described the benefits or perceived benefits of participating in rare disease support groups or the barriers and facilitators of establishing and maintaining them were eligible for inclusion. Two investigators independently evaluated titles/abstracts and full-text publications for eligibility, and extracted data from each included publication. Ten publications were included in the scoping review. There was no trial evidence on support group benefits. All ten publications reported on the perceived benefits of participating in rare disease support groups. Three reported on barriers and facilitators of establishing and maintaining them. Overall, seven different perceived benefits of participating in rare disease support groups were identified: (1) meeting and befriending other people with the same rare disease and similar experiences; (2) learning about the disease and related treatments; (3) giving and receiving emotional support; (4) having a place to speak openly about the disease and one's feelings; (5) learning coping skills; (6) feeling empowered and hopeful; and (7) advocating to improve healthcare for other rare disease patients. Several facilitators (e.g., meeting via teleconference) and barriers (e.g., getting patients and/or family members to lead the group) of establishing and maintaining these

Benign Multicystic Peritoneal Mesothelioma: A Rare Condition in an Uncommon Gender

Directory of Open Access Journals (Sweden)

Muhammad S. Khurram

2017-01-01

Full Text Available Benign Multicystic Peritoneal Mesothelioma (BMPM is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC.

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis.

Science.gov (United States)

Döring, Jan Henje; Lampert, Anette; Hoffmann, Georg F; Ries, Markus

2016-01-01

Epilepsy is a serious chronic health condition with a high morbidity impairing the life of patients and afflicted families. Many epileptic conditions, especially those affecting children, are rare disorders generating an urgent medical need for more efficacious therapy options. Therefore, we assessed the output of the US and European orphan drug legislations. Quantitative analysis of the FDA and EMA databases for orphan drug designations according to STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) criteria. Within the US Orphan Drug Act 40 designations were granted delivering nine approvals, i.e. clobazam, diazepam viscous solution for rectal administration, felbamate, fosphenytoin, lamotrigine, repository corticotropin, rufinamide, topiramate, and vigabatrin. Since 2000 the EMA granted six orphan drug designations whereof two compounds were approved, i.e. rufinamide and stiripentol. In the US, two orphan drug designations were withdrawn. Orphan drugs were approved for conditions including Lennox-Gastaut syndrome, infantile spasms, Dravet syndrome, and status epilepticus. Comparing time to approval for rufinamide, which was approved in the US and the EU to treat rare seizure conditions, the process seems faster in the EU (2.2 years) than in the US (4.3 years). Orphan drug development in the US and in the EU delivered only few molecular entities to treat rare seizure disorders. The development programs focused on already approved antiepileptic drugs or alternative pharmaceutical formulations. Most orphan drugs approved in the US are not approved in the EU to treat rare seizures although some were introduced after 2000 when the EU adopted the Orphan Drug Regulation.

Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease.

Science.gov (United States)

Pelentsov, Lemuel J; Fielder, Andrea L; Laws, Thomas A; Esterman, Adrian J

2016-01-01

Children and families affected by rare diseases have received scant consideration from the medical, scientific, and political communities, with parents' needs especially having received little attention. Affected parents often have limited access to information and support and appropriate health care services. While scales to measure the needs of parents of children with chronic illnesses have been developed, there have been no previous attempts to develop a scale to assess the needs of parents of children with rare diseases. To develop a scale for measuring the supportive care needs of parents of children with rare diseases. A total of 301 responses to our Parental Needs Survey were randomly divided into two halves, one for exploratory factor analysis and the other for confirmatory factor analysis (CFA). After removing unsuitable items, exploratory factor analysis was undertaken to determine the factor structure of the data. CFA using structural equation modeling was then undertaken to confirm the factor structure. Seventy-two items were entered into the CFA, with a scree plot showing a likely four-factor solution. The results provided four independent subscales of parental needs: Understanding the disease (four items); Working with health professionals (four items); Emotional issues (three items); and Financial needs (three items). The structural equation modeling confirmed the suitability of the four-factor solution and demonstrated that the four subscales could be added to provide an overall scale of parental need. This is the first scale developed to measure the supportive care needs of parents of children with rare diseases. The scale is suitable for use in surveys to develop policy, in individual clinical assessments, and, potentially, for evaluating new programs. Measuring the supportive care needs of parents caring for a child with a rare disease will hopefully lead to better physical and psychological health outcomes for parents and their affected

Acute Pulmonary Edema in an Eclamptic Pregnant Patient: A Rare Case of Takotsubo Syndrome.

Science.gov (United States)

Karamchandani, Kunal; Bortz, Brandon; Vaida, Sonia

2016-09-23

BACKGROUND Acute pulmonary edema in a pregnant patient is associated with significant morbidity and mortality. Takotsubo syndrome, or stress-induced cardiomyopathy, is a rare cause of acute pulmonary edema in a pregnant patient, especially prior to delivery of the fetus. CASE REPORT We describe a case of a pregnant patient who presented with acute pulmonary edema and eclampsia and was found to have Takotsubo syndrome. To the best of our knowledge, eclampsia as a precipitating factor for Takotsubo syndrome has not been described in literature. CONCLUSIONS Clinicians taking care of pregnant patients should be aware of the potential link between eclampsia and Takotsubo cardiomyopathy. Prompt correction of the precipitating cause along with supportive management as described is the key to a successful outcome.

Comparatively rare case of a child-patient's cerebral echinococcus

International Nuclear Information System (INIS)

Todorov, A.; Simova, E.; Traykova, N.; Stoev, D.; Danev, V.

2012-01-01

Full text: Echinococcosis is a parasitic condition with a wide spread in Bulgaria. The possibility of an extensive as well as various localization of the cysts is vastly accounted for. However, according to book references and data available, and medical practice, the brain is somewhat one of the loci with a rare occurrence. The authors panel has taken into consideration the case of an eight-year-old male, who was diagnosed through CT scan with a large cystic lesion in the left cerebral hemisphere with a temporal and parietal localization, as well as a partial destruction of the adjacent pyramid. The presence of an echinococcal cyst has been established through methods of surgical intervention, as well as histologic sample examination. The authors demonstrate the complete anatomical recovery of the encephalic structures of the patient through an ensuing routine CT scan

Cardiac Aspergilloma: A Rare Case of a Cardiac Mass Involving the Native Tricuspid Valve, Right Atrium, and Right Ventricle in an Immunocompromised Patient

Directory of Open Access Journals (Sweden)

Christina S. Chen-Milhone

2018-01-01

Full Text Available Aspergillus can cause devastating opportunistic infections in immunocompromised patients. Rarely does this fungus invade the heart, and when it does, survival is especially poor despite optimal medical and surgical treatment. We report a case of cardiac aspergilloma with involvement of the tricuspid valve and both the right atrium and ventricle found on a transthoracic echocardiogram in an immunocompromised patient after developing atrial fibrillation with rapid ventricular rate. The findings from this case suggest that early clinical suspicion is critical in early diagnosis and thus early treatment.

Development of fast-release solid catchers for rare isotopes

Science.gov (United States)

Nolen, Jerry; Greene, John; Elam, Jeffrey; Mane, Anil; Sampathkumaran, Uma; Winter, Raymond; Hess, David; Mushfiq, Mohammad; Stracener, Daniel; Wiendenhoever, Ingo

2015-04-01

Porous solid catchers of rare isotopes are being developed for use at high power heavy ion accelerator facilities such as RIKEN, FRIB, and RISP. Compact solid catchers are complementary to helium gas catchers for parasitic harvesting of rare isotopes in the in-flight separators. They are useful for short lived isotopes for basic nuclear physics research and longer-lived isotopes for off-line applications. Solid catchers can operate effectively with high intensity secondary beams, e.g. >> 1E10 atoms/s with release times as short as 10-100 milliseconds. A new method using a very sensitive and efficient RGA has been commissioned off-line at Argonne and is currently being shipped to Florida State University for in-beam measurements of the release curves using stable beams. The same porous solid catcher technology is also being evaluated for use in targets for the production of medical isotopes such as 211-At. Research supported by the U.S. DOE Office of Nuclear Physics under the SBIR Program and Contract # DE-AC02-06CH11357 and a University of Chicago Comprehensive Cancer Center/ANL Pilot Project.

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients.

Directory of Open Access Journals (Sweden)

Jumana Yousuf Al-Aama

Full Text Available Celiac disease (CD, a multi-factorial auto-inflammatory disease of the small intestine, is known to occur in both sporadic and familial forms. Together HLA and Non-HLA genes can explain up to 50% of CD's heritability. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR pattern. We have identified a rare homozygous insertion c.1683_1684insATT, in the conserved coding region of AK5 gene that showed classical AR model segregation in this family. Sequence validation of 200 chromosomes each of sporadic CD cases and controls, revealed that this extremely rare (EXac MAF 0.000008 mutation is highly penetrant among general Saudi populations (MAF is 0.62. Genotype and allelic distribution analysis have indicated that this AK5 (c.1683_1684insATT mutation is negatively selected among patient groups and positively selected in the control group, in whom it may modify the risk against CD development [p<0.002]. Our observation gains additional support from computational analysis which predicted that Iso561 insertion shifts the existing H-bonds between 400th and 556th amino acid residues lying near the functional domain of adenylate kinase. This shuffling of amino acids and their H-bond interactions is likely to disturb the secondary structure orientation of the polypeptide and induces the gain-of-function in nucleoside phosphate kinase activity of AK5, which may eventually down-regulates the reactivity potential of CD4+ T-cells against gluten antigens. Our study underlines the need to have population-specific genome databases to avoid false leads and to identify true candidate causal genes for the familial form of celiac disease.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

Science.gov (United States)

Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Kracker, Sven; Suarez, Felipe; Bahi-Buisson, Nadia; Hadj-Rabia, Smail; Fischer, Alain; Munnich, Arnold; Burgun, Anita

2017-09-01

In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Our model was based on a vector space model (VSM) to compute the similarity distance between an index patient and all the patients of the data warehouse. The dimensions of the VSM were built upon Unified Medical Language System concepts extracted from clinical narratives stored in the clinical data warehouse. The VSM was enhanced using three parameters: a pertinence score (TF-IDF of the concepts), the polarity of the concept (negated/not negated) and the minimum number of concepts in common. We evaluated this model by displaying the most similar patients for five different rare diseases: Lowe Syndrome (LOWE), Dystrophic Epidermolysis Bullosa (DEB), Activated PI3K delta Syndrome (APDS), Rett Syndrome (RETT) and Dowling Meara (EBS-DM), from the clinical data warehouse representing 18, 103, 21, 84 and 7 patients respectively. The percentages of index patients returning at least one true positive similar patient in the Top30 similar patients were 94% for LOWE, 97% for DEB, 86% for APDS, 71% for EBS-DM and 99% for RETT. The mean number of patients with the exact same genetic diseases among the 30 returned patients was 51%. This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Copyright © 2017. Published by Elsevier Inc.

Rare thoracic cancers, including peritoneum mesothelioma

NARCIS (Netherlands)

Siesling, Sabine; van der Zwan, Jan Maarten; Izarzugaza, Isabel; Jaal, Jana; Treasure, Tom; Foschi, Roberto; Ricardi, Umberto; Groen, Harry; Tavilla, Andrea; Ardanaz, Eva

Rare thoracic cancers include those of the trachea, thymus and mesothelioma (including peritoneum mesothelioma). The aim of this study was to describe the incidence, prevalence and survival of rare thoracic tumours using a large database, which includes cancer patients diagnosed from 1978 to 2002,

Rare thoracic cancers, including peritoneum mesothelioma

NARCIS (Netherlands)

Siesling, Sabine; Zwan, J.M.V.D.; Izarzugaza, I.; Jaal, J.; Treasure, T.; Foschi, R.; Ricardi, U.; Groen, H.; Tavilla, A.; Ardanaz, E.

2012-01-01

Rare thoracic cancers include those of the trachea, thymus and mesothelioma (including peritoneum mesothelioma). The aim of this study was to describe the incidence, prevalence and survival of rare thoracic tumours using a large database, which includes cancer patients diagnosed from 1978 to 2002,

Quantifying a rare disease in administrative data: the example of calciphylaxis.

Science.gov (United States)

Nigwekar, Sagar U; Solid, Craig A; Ankers, Elizabeth; Malhotra, Rajeev; Eggert, William; Turchin, Alexander; Thadhani, Ravi I; Herzog, Charles A

2014-08-01

Calciphylaxis, a rare disease seen in chronic dialysis patients, is associated with significant morbidity and mortality. As is the case with other rare diseases, the precise epidemiology of calciphylaxis remains unknown. Absence of a unique International Classification of Diseases (ICD) code impedes its identification in large administrative databases such as the United States Renal Data System (USRDS) and hinders patient-oriented research. This study was designed to develop an algorithm to accurately identify cases of calciphylaxis and to examine its incidence and mortality. Along with many other diagnoses, calciphylaxis is included in ICD-9 code 275.49, Other Disorders of Calcium Metabolism. Since calciphylaxis is the only disorder listed under this code that requires a skin biopsy for diagnosis, we theorized that simultaneous application of code 275.49 and skin biopsy procedure codes would accurately identify calciphylaxis cases. This novel algorithm was developed using the Partners Research Patient Data Registry (RPDR) (n = 11,451 chronic hemodialysis patients over study period January 2002 to December 2011) using natural language processing and review of medical and pathology records (the gold-standard strategy). We then applied this algorithm to the USRDS to investigate calciphylaxis incidence and mortality. Comparison of our novel research strategy against the gold standard yielded: sensitivity 89.2%, specificity 99.9%, positive likelihood ratio 3,382.3, negative likelihood ratio 0.11, and area under the curve 0.96. Application of the algorithm to the USRDS identified 649 incident calciphylaxis cases over the study period. Although calciphylaxis is rare, its incidence has been increasing, with a major inflection point during 2006-2007, which corresponded with specific addition of calciphylaxis under code 275.49 in October 2006. Calciphylaxis incidence continued to rise even after limiting the study period to 2007 onwards (from 3.7 to 5.7 per 10

Development of protocols to inventory or monitor wildlife, fish, or rare plants

Science.gov (United States)

David Vesely; Brenda C. McComb; Christina D. Vojta; Lowell H. Suring; Jurai Halaj; Richard S. Holthausen; Benjamin Zuckerberg; Patricia M. Manley

2006-01-01

The purpose of this technical guide (hereafter referred to as the Species Protocol Technical Guide) is to provide guidelines for developing inventory and monitoring (I&M) protocols for wildlife, fish, and rare plants (WFRP) using the U.S. Department of Agriculture (USDA) Forest Service technical guide format.

Comparison of different approaches applied in Analytic Hierarchy Process - an example of information needs of patients with rare diseases.

Science.gov (United States)

Pauer, Frédéric; Schmidt, Katharina; Babac, Ana; Damm, Kathrin; Frank, Martin; von der Schulenburg, J-Matthias Graf

2016-09-09

The Analytic Hierarchy Process (AHP) is increasingly used to measure patient priorities. Studies have shown that there are several different approaches to data acquisition and data aggregation. The aim of this study was to measure the information needs of patients having a rare disease and to analyze the effects of these different AHP approaches. The ranking of information needs is then used to display information categories on a web-based information portal about rare diseases according to the patient's priorities. The information needs of patients suffering from rare diseases were identified by an Internet research study and a preliminary qualitative study. Hence, we designed a three-level hierarchy containing 13 criteria. For data acquisition, the differences in outcomes were investigated using individual versus group judgements separately. Furthermore, we analyzed the different effects when using the median and arithmetic and geometric means for data aggregation. A consistency ratio ≤0.2 was determined to represent an acceptable consistency level. Forty individual and three group judgements were collected from patients suffering from a rare disease and their close relatives. The consistency ratio of 31 individual and three group judgements was acceptable and thus these judgements were included in the study. To a large extent, the local ranks for individual and group judgements were similar. Interestingly, group judgements were in a significantly smaller range than individual judgements. According to our data, the ranks of the criteria differed slightly according to the data aggregation method used. It is important to explain and justify the choice of an appropriate method for data acquisition because response behaviors differ according to the method. We conclude that researchers should select a suitable method based on the thematic perspective or investigated topics in the study. Because the arithmetic mean is very vulnerable to outliers, the geometric mean

Investigation of the role of TCF4 rare sequence variants in schizophrenia.

Science.gov (United States)

Basmanav, F Buket; Forstner, Andreas J; Fier, Heide; Herms, Stefan; Meier, Sandra; Degenhardt, Franziska; Hoffmann, Per; Barth, Sandra; Fricker, Nadine; Strohmaier, Jana; Witt, Stephanie H; Ludwig, Michael; Schmael, Christine; Moebus, Susanne; Maier, Wolfgang; Mössner, Rainald; Rujescu, Dan; Rietschel, Marcella; Lange, Christoph; Nöthen, Markus M; Cichon, Sven

2015-07-01

Transcription factor 4 (TCF4) is one of the most robust of all reported schizophrenia risk loci and is supported by several genetic and functional lines of evidence. While numerous studies have implicated common genetic variation at TCF4 in schizophrenia risk, the role of rare, small-sized variants at this locus-such as single nucleotide variants and short indels which are below the resolution of chip-based arrays requires further exploration. The aim of the present study was to investigate the association between rare TCF4 sequence variants and schizophrenia. Exon-targeted resequencing was performed in 190 German schizophrenia patients. Six rare variants at the coding exons and flanking sequences of the TCF4 gene were identified, including two missense variants and one splice site variant. These six variants were then pooled with nine additional rare variants identified in 379 European participants of the 1000 Genomes Project, and all 15 variants were genotyped in an independent German sample (n = 1,808 patients; n = 2,261 controls). These data were then analyzed using six statistical methods developed for the association analysis of rare variants. No significant association (P power analyses suggest that further research into the possible involvement of rare TCF4 sequence variants in schizophrenia risk is warranted by the assessment of larger cohorts with higher statistical power to identify rare variant associations. © 2015 Wiley Periodicals, Inc.

International collaboration including patients is essential to develop new therapies for patients with myositis.

Science.gov (United States)

Lundberg, Ingrid E; Vencovsky, Jiri

2017-05-01

To discuss the needs for international collaborations between investigators in different disciplines working with myositis and with patients with myositis. Recent advances in detection of several myositis-specific autoantibodies that are associated with distinct clinical phenotypes, will enable studies in new well defined clinically homogenous subgroups of myositis This is likely to lead to development of new information on molecular pathogenesis that might be different in different myositis subgroups. Subgrouping patients according to autoantibody profile may also be important to assess outcome, to identify prognostic biomarkers and in clinical trials. As these are rare disorders international collaboration is essential to enrol large enough cohorts of the subgroups. To facilitate such collaboration we have developed a web-based international myositis register, www.euromyositis.eu, which includes validated outcome measures and patient reported outcome measures. This register is to support research but also to support decision-making in the clinic. We welcome investigators to join the Euromyositis register. Myositis is a heterogeneous disorder with varying treatment response and outcome. There is a high unmet need for new therapies which can only be achieved by increased knowledge on molecular disease mechanisms. Subgrouping patients according to autoantibody profile may be a new way forward to get a better understanding on disease mechanisms and to develop novel therapies.

A patient with a rare leukodystrophy related to lamin B1 duplication.

LENUS (Irish Health Repository)

Molloy, A

2012-06-01

The hereditary leukodystrophies are rare disorders caused by molecular abnormalities leading to destruction of or failure of development of central white matter. For almost 30 years there has been increasing recognition of later onset Autosomal Dominant Leukodystrophy (ADLD). We report the first genetically confirmed case of lamin B1 duplication causing ADLD from Ireland.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Science.gov (United States)

Kraoua, Lilia; Journel, Hubert; Bonnet, Philippe; Amiel, Jeanne; Pouvreau, Nathalie; Baumann, Clarisse; Verloes, Alain; Cavé, Hélène

2012-10-01

Recently, germline mutations of NRAS have been shown to be associated with Noonan syndrome (NS), a relatively common developmental disorder characterized by short stature, congenital heart disease, and distinctive facial features. We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11, KRAS, SOS1, MEK1, MEK2, RAF1, BRAF, and SHOC2. The c.179G>A (p.G60E) mutation was identified in two patients with typical NS, confirming that NRAS germline mutations are a rare cause of this syndrome. We also screened our cohort of 95 patients with juvenile myelomonocytic leukemia (JMML). Among 17 patients with NRAS-mutated JMML, none had clinical features suggestive of NS. None of the 11 JMML patients for which germline DNA was available had a constitutional NRAS mutation. Copyright © 2012 Wiley Periodicals, Inc.

8th European Conference on Rare Diseases & Orphan Products (ECRD 2016

Directory of Open Access Journals (Sweden)

Michael Schlander

2016-11-01

Full Text Available Table of contents O1 The European Social Preferences Measurement (ESPM study project: social cost value analysis, budget impact, commercial life cycle revenue management, and the economics of biopharmaceutical Research & Development (R&D Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry Telser O2 Newborn Screening: the potential and the challenges James R Bonham O3 Untreatable disease outcomes - how would we measure them? Helmut Hintner, Anja Diem, Martin Laimer O4 Taking Integrated Care Forward: Experiences from Canada to inspire service provision for people living with rare disease in Europe Réjean Hébert O5 Listening to the patient’s voice: social media listening for safety and benefits in rare diseases Nabarun Dasgupta, Carrie E. Pierce, Melissa Jordan O6 Via Opta: Mobile apps making visually impaired patients’ lives easier Barbara Bori, Mohanad Fors, Emilie Prazakova O7 A report of the IRDiRC “Small Population Clinical Trial” Task Force Simon Day O8 HAE patient identification and diagnosis: An innovative, ‘game changing’ collaboration Thomas J. Croce Jr. O9 Co-creating with the community: primary packaging & administration for people with haemophilia Jonas Fransson, Philip Wood O10 Go with Gaucher, taking forward the next generation. How to involve young people to create a new generation of patient advocates Anne-Grethe Lauridsen, Joanne Higgs, Vesna Stojmirova Aleksovska P1 ODAK – Orphan Drug for Acanthamoeba Keratitis Christina Olsen, Ritchie Head, Antonio Asero, Vincenzo Papa, Christa van Kan, Loic Favennec, Silvana Venturella, Michela Salvador, Alan Krol P5 Rare Navigators help people living with rare diseases to manage the social – and healthcare systems Stephanie J. Nielsen, Birthe B. Holm P6 The eAcademy for Tay-Sachs & Sandhoff disease app

[Research funding for rare diseases in Germany].

Science.gov (United States)

Wissing, Frank; Bruckner-Tuderman, Leena

2017-05-01

There is high need for more research in the field of rare diseases. Not only must the causes and mechanisms of the numerous and often heterogeneous diseases be delineated, but criteria must also be defined for optimal stratification of patients for individualized therapies. In this context, research and innovative diagnostics are linked together more closely than in other fields of medicine. The early stages of disease-oriented research can be performed in individual institutions but, due to low numbers of patients, late translation and transfer into clinics requires multicentric and international collaboration. In Germany research on rare diseases takes place mostly in faculties of medicine at universities. Since the institutional financial support is very low, research grants have substantial significance. The German Research Foundation (DFG) and the Federal Ministry of Education and Research (BMBF) are the main grant agencies for national projects, but foundations and patient advocacy groups also finance research to a certain extent. The ERA-Net "E-Rare" and the programs of the EU target primarily international cross-border projects and patient trials. All of these programs need to be adapted more efficiently to the particular needs of rare disease research. For national and international research projects on rare diseases, sufficient funds are needed but also sustainable interdisciplinary platforms and centers must be established in order to share expert knowledge and to implement complex programs such as proof-of-concept studies in humans.

Peripheral Developing Odontoma or Peripheral Ameloblastic Fibroodontoma: A Rare Challenging Case

Directory of Open Access Journals (Sweden)

Saede Atarbashi Moghadam

2016-01-01

Full Text Available Peripheral odontogenic lesions are considered to be rare within the classification of odontogenic tumors. They share the same microscopic characteristics of their central counterparts. Here, we report an ulcerated mass of the maxillary gingiva that on histopathological examination was diagnosed as peripheral developing odontoma or peripheral ameloblastic fibroodontoma. The diagnosis of this tumor is challenging and may lead to unnecessary treatment.

Clozapine-induced interstitial nephritis - a rare but important complication: a case report

Directory of Open Access Journals (Sweden)

Hunter Robert

2009-08-01

Full Text Available Abstract Introduction Given the limited range of effective drug treatments for patients with schizophrenia, increasing numbers of patients, often termed 'treatment-resistant' are prescribed clozapine. While the induction of neutropenia or agranulocytosis by clozapine is well appreciated, other rare potentially fatal adverse reactions may also occur including acute interstitial nephritis as reported in this case. Case presentation A 57-year-old Caucasian woman with treatment-resistant chronic schizophrenia developed acute renal failure following initiation of treatment with clozapine. The adverse reaction occurred after only four doses of the drug had been administered (titrated from 12.5 to 25 mg per day. After clozapine had been withdrawn, the patient's renal function returned to normal with no other changes to medication. The patient had been exposed to clozapine about 4 years previously when she had developed a similar reaction. Conclusion Renal reactions to clozapine are extremely rare but, if not recognized promptly, may prove fatal. Psychiatrists need to be aware of this possible complication when clozapine is initiated.

Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease

Directory of Open Access Journals (Sweden)

Pelentsov LJ

2016-09-01

Full Text Available Lemuel J Pelentsov,1 Andrea L Fielder,2,3 Thomas A Laws,4 Adrian J Esterman1,2,5 1School of Nursing and Midwifery, 2Sansom Institute for Health Research, 3School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia; 4School of Nursing and Midwifery, Faculty of Health, Keele University, Staffordshire, UK; 5Australian Institute for Health and Tropical Medicine, James Cook University, Cairns, QLD, Australia Background: Children and families affected by rare diseases have received scant consideration from the medical, scientific, and political communities, with parents’ needs especially having received little attention. Affected parents often have limited access to information and support and appropriate health care services. While scales to measure the needs of parents of children with chronic illnesses have been developed, there have been no previous attempts to develop a scale to assess the needs of parents of children with rare diseases. Objective: To develop a scale for measuring the supportive care needs of parents of children with rare diseases. Method: A total of 301 responses to our Parental Needs Survey were randomly divided into two halves, one for exploratory factor analysis and the other for confirmatory factor analysis (CFA. After removing unsuitable items, exploratory factor analysis was undertaken to determine the factor structure of the data. CFA using structural equation modeling was then undertaken to confirm the factor structure. Results: Seventy-two items were entered into the CFA, with a scree plot showing a likely four-factor solution. The results provided four independent subscales of parental needs: Understanding the disease (four items; Working with health professionals (four items; Emotional issues (three items; and Financial needs (three items. The structural equation modeling confirmed the suitability of the four-factor solution and demonstrated that the four subscales could be added

Rapid Hip Osteoarthritis Development in a Patient with Anterior Acetabular Cyst with Sagittal Alignment Change

Directory of Open Access Journals (Sweden)

Yasuhiro Homma

2014-01-01

Full Text Available Rapidly destructive coxarthrosis (RDC is rare and develops unusual clinical course. Recent studies suggest multiple possible mechanisms of the development of RDC. However the exact mechanism of RDC is still not clear. The difficulty of the study on RDC is attributed to its rareness and the fact that the data before the onset of RDC is normally unavailable. In this report, we presented the patient having the radiographic data before the onset who had rapid osteoarthritis (OA development after contralateral THA, which meets the current criteria of RDC. We thought that the increased posterior tilt of the pelvis after THA reinforced the stress concentration at pre-existed anterior acetabular cyst, thereby the destruction of the cyst was occurred. As a result the rapid OA was developed. We think that there is the case of rapid osteoarthritis developing due to alternating load concentration by posterior pelvic tilt on preexisting anterior acetabular cyst such as our patient among the cases diagnosed as RDC without any identifiable etiology. The recognition of sagittal alignment changes and anterior acetabular cyst may play important role in prediction and prevention of the rapid hip osteoarthritis development similar to RDC.

A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

Science.gov (United States)

Choquet, Rémy; Maaroufi, Meriem; de Carrara, Albane; Messiaen, Claude; Luigi, Emmanuel; Landais, Paul

2015-01-01

Background Although rare disease patients make up approximately 6–8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented. Methods To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records. Results The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries. Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients’ eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here. PMID:25038198

A rare phenomenon of atypical lipodystrophy in a patient on HAART in the absence of a protease inhibitor regimen

Directory of Open Access Journals (Sweden)

Mohammed Mitha

2010-11-01

Full Text Available Lipodystrophy is a complication of patients on antiretroviral (ARV medication; however, it is commonest in patients on long-term treatment and those on protease inhibitor (PI regimens.1,2 We present a rare case of atypical lipodystrophy, presenting as multiple subcutaneous lipomas, in a patient who had been on a non-PI ART regimen for 6 weeks.

Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants

DEFF Research Database (Denmark)

Gregers, Emilie; Ahlberg, Gustav; Christensen, Thea

2017-01-01

the HaloPlex Target Enrichment System. MuTect software was used for identification of somatic point variants. We functionally characterized selected variants using electrophysiologic techniques. RESULTS: No somatic variants were identified in the cardiac tissue. Thirty-three patients (75%) had a rare...... patient population undergoing surgery for mitral valve regurgitation (MVR) to determine whether these patients are genetically predisposed to AF. METHODS: DNA was extracted from blood and left atrial tissue from 44 AF patients with MVR. Using next-generation sequencing, we investigated 110 genes using...... germline variation in ≥1 candidate genes. Fourteen variants were novel. Fifteen variants were predicted damaging or likely damaging in ≥6 in silico predictions. We identified rare variants in genes never directly associated with AF: KCNE4, SCN4B, NEURL1, and CAND2. Interestingly, 7 patients (16%) had...

A rare case of traumatic chylothorax after blunt thoracic trauma

Directory of Open Access Journals (Sweden)

Spasić Marko

2017-01-01

Full Text Available Introduction. Chylothorax is an accumulation of chyle in the pleural cavity due to a disruption of the thoracic duct. Traumatic chylothoraces are usually a result of a penetrating trauma and disruption of the thoracic duct, but blunt traumatic chylothorax is a rare condition. The aim of this paper is to present a rare case of traumatic chylothorax after blunt thoracic trauma. Case Outline. We present a case of traumatic chylothorax after blunt thoracic trauma in a patient injured in a motor vehicle accident. The patient had a right-sided fracture of rib XI, hydropneumothorax, lung contusion, and signs of pneumomediastinum. We performed thoracic drainage, but a few days later, according to the increase of amount of the fluid daily drained, and the confirmation of laboratory findings of the analyzed fluid, we made a diagnosis of chylothorax and the patient underwent a thoracotomy, where we sutured the thoracic duct. Conclusion. Chylothorax should be considered in patients after chest trauma if they develop a milky pleural effusion. Analysis of pleural fluid and level of triglycerides is important for the diagnosis and treatment of chylothorax. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. III41007

Idiopathic Pulmonary Hemosiderosis in a Young Adult Patient: A Rare Case

Directory of Open Access Journals (Sweden)

Abhishek Agarwal

2018-01-01

Full Text Available Idiopathic pulmonary hemosiderosis (IPH is often an ignored and rare cause of diffuse alveolar hemorrhage (DAH. It is characterized by triad of hemoptysis, anemia, and alveolar opacity on radiology. It is a diagnosis of exclusion, established after ruling out other causes of DAH such as Goodpasture’s syndrome, large vessel vasculitis, small vessel vasculitis associated with anti-neutrophil cytoplasmic antibody (ANCA (Wegener’s granulomatosis, Churg–Strauss syndrome, microscopic polyangiitis, immune complex-related vasculitis (collagen vascular diseases, Henoch–Schönlein purpura, mixed cryoglobulinemia drug reactions, anticoagulation and thrombocytopenia. Though it is a disease primarily affecting children, we hereby report a case of IPH in an adult patient who responded dramatically to oral corticosteroid.

Sustainable rare diseases business and drug access: no time for misconceptions.

Science.gov (United States)

Rollet, Pierrick; Lemoine, Adrien; Dunoyer, Marc

2013-07-23

Legislative incentives enacted in Europe through the Regulation (EC) No. 141/2000 to incentivize orphan drug development have over the last 12 years constituted a powerful impetus toward R&D directed at the rare diseases population. However, despite therapeutic promises contained in these projects and significant economic impact linked to burgeoning R&D expenditures, the affordability and value of OMPs has become a topic of health policy debate in Europe fueled by the perception that OMPs have high acquisition costs, and by misconceptions around pricing dynamics and rare-diseases business models. In order to maintain sustainable patient access to new and innovative therapies, it is essential to address these misconceptions, and to ensure the successful continuation of a dynamic OMPs R&D within rare-diseases public health policy. Misconceptions abound regarding the pricing of rare diseases drugs and reflect a poor appreciation of the R&D model and the affordability and value of OMPs. Simulation of potential financial returns of small medium sized rare diseases companies focusing on high priced drugs show that their economic returns are likely to be close to their cost of capital. Research in rare diseases is a challenging endeavour characterised by high fixed costs in which companies accrue substantial costs for several years before potentially generating returns from the fruits of their investments. Although heavily dependent upon R&D capabilities of each individual company or R&D organization, continuous flow of R&D financial investment should allow industry to increasingly include efficiencies in research and development in cost considerations to its customers. Industry should also pro-actively work on facilitating development of a specific value based pricing approach to help understanding what constitute value in rare diseases. Policy makers must reward innovation based upon unmet need and patient outcome. Broader understanding by clinicians, the public, and

A rare case of anomalous origin of the left main coronary artery in an adult patient

Directory of Open Access Journals (Sweden)

Dionne Pierre O

2013-01-01

Full Text Available Abstract Anomalous origin of left coronary artery from the pulmonary artery (ALCAPA is a rare congenital anomaly that causes a left-to-right shunt via the coronary system, resulting in coronary steal. We report an unusual case of a healthy 48 years-old patient presenting with dyspnea on exertion and mild chest pain who underwent surgical correction of this rare anomaly. Multiple procedures have been proposed in adults with ALCAPA. Although re-implantation of the left main coronary artery (LMCA to the aorta remains the most physiological correction for this anomaly, the combination of LMCA ligation and coronary artery bypass grafting provides a dual coronary flow system and is preferable when re-implantation is impossible.

Renal replacement therapy for rare diseases affecting the kidney

DEFF Research Database (Denmark)

Wühl, Elke; van Stralen, Karlijn J; Wanner, Christoph

2014-01-01

BACKGROUND: In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage...

A Rare Cause of Massive Upper Gastrointestinal Hemorrhage in Immunocompromised Host.

Science.gov (United States)

Abdullah, Obai; Pele, Nicole A; Fu, Yumei; Ashraf, Imran; Arif, Murtaza; Bechtold, Matthew L; Grewal, Ajitinder; Hammad, Hazem T

2012-02-01

Mucormycosis is an invasive and aggressive opportunistic fungal infection that usually presents with rhinocerebral or pulmonary involvement and rarely involves the gastrointestinal tract. The disease is acute with mortality rate up to 100%. A 68-year-old male was undergoing treatment at a local hospital for COPD exacerbation with IV steroids and antibiotics. Two weeks into his treatment he suddenly developed massive upper GI bleeding and hemodynamic instability that necessitated transfer to our tertiary care hospital for further treatment and management. An urgent upper endoscopy revealed multiple large and deep gastric and duodenal bulb ulcers with stigmata of recent bleeding. The ulcers were treated endoscopically. Biopsies showed fibrinopurulent debris with fungal organisms. Stains highlighted slightly irregular hyphae with rare septa and yeast suspicious for Candida. The patient was subsequently placed on fluconazole. Unfortunately, the patient's general condition continued to worsen and he developed multiorgan failure and died. Autopsy revealed disseminated systemic mucormycosis. Most of the cases of gastrointestinal mucormycosis were reported from the tropics and few were reported in the United States. The disease occurs most frequently in immunocompromised individuals. The rare incidence of GI involvement, acute nature, severity and the problematic identification of the organisms on biopsies make antemortem diagnosis challenging. Treatment includes parenteral antifungals and debridement of the infected tissues. Gastroenterologists should be aware of this rare cause of gastrointestinal bleeding and understand the importance of communication with the reviewing pathologist so that appropriate, and often lifesaving, therapies can be administered in a timely manner.

Seckel syndrome: A rare case report

Directory of Open Access Journals (Sweden)

Rinky Sisodia

2014-01-01

Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

Chondroectodermal dysplasia: a rare syndrome.

Directory of Open Access Journals (Sweden)

Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Dual malignancy in adolescence: A rare case report of metachronous papillary carcinoma of thyroid following dysgerminoma of ovary

Science.gov (United States)

Chakrabarti, Suvadip; Desai, Sanjay M.; Mehta, Dharmendra Y.; Somanath, Shreyas

2016-01-01

Dual malignancy is rare in adolescents. Dual malignancy with the second malignancy of thyroid is rare. No association has been reported between dysgerminoma of ovary and carcinoma thyroid in medical literature. Despite a thorough PubMed search (key words — Papillary carcinoma of thyroid, metachronous, dysgerminoma ovary), we were unable to find a previous reported case of metachronous papillary carcinoma of thyroid (PTC) following dysgerminoma of the ovary. After surgery, the patient is being regularly followed up for recurrence/development of new primary. We report this unusual and rare case in a 17-year-old female patient. PMID:27904567

Dual malignancy in adolescence: A rare case report of metachronous papillary carcinoma of thyroid following dysgerminoma of ovary

Directory of Open Access Journals (Sweden)

Suvadip Chakrabarti

2016-01-01

Full Text Available Dual malignancy is rare in adolescents. Dual malignancy with the second malignancy of thyroid is rare. No association has been reported between dysgerminoma of ovary and carcinoma thyroid in medical literature. Despite a thorough PubMed search (key words - Papillary carcinoma of thyroid, metachronous, dysgerminoma ovary, we were unable to find a previous reported case of metachronous papillary carcinoma of thyroid (PTC following dysgerminoma of the ovary. After surgery, the patient is being regularly followed up for recurrence/development of new primary. We report this unusual and rare case in a 17-year-old female patient.

Expert services for rare anaemias across Europe

OpenAIRE

Beatrice Gulbis

2013-01-01

New challenges and priorities are given in the EU Health programme 2007-2013. The objectives of the programme are to improve citizens’ health security, to promote health to improve prosperity and solidarity, and to generate and disseminate health knowledge. If challenges and priorities have been defined globally for rare diseases by the European Commission, persons involved in rare anaemias have taken the opportunity to contribute to the empowerment of patients with rare anaemias. One o...

Economic aspects of rare diseases.

Science.gov (United States)

Borski, Krzysztof

2015-01-01

Economic problems related to the prevention, diagnosis and treatment of rare diseases are presented paying particular attention to the costs of financing treatment, including the issue of its refund, which is a fundamental and difficult to solve economic problem of the health care system. Rare diseases, despite the low frequency of occurrence, together cover a large group of diseases being a serious medical, social and economic problem. The adoption of Polish National Plan for Rare Diseases resulting from the recommendations of the Council of the European Union, the extension of institutional activities related to the area of public health and social initiatives seeking innovative solutions to create a model of social support for patients and their families, with very high complexity of the issues regarding rare diseases, results in the need for a coherent, comprehensive, system operations and adoption of comprehensive solutions.

[Gastroenteritis due to Plesiomonas shigelloides--rare cases in the Western world].

Science.gov (United States)

Knebel, U; Sloot, N; Eikenberg, M; Borsdorf, H; Höffler, U; Riemann, J F

2001-02-15

Plesiomonas shigelloides is a common pathogen in tropical regions, whereas it is rarely isolated in temperate climates. It is most often found in surface water and fish. During the last 10 years it was found to cause gastroenteritis 6 times in Ludwigshafen. Not all of these patients reported a trip to foreign countries. A 54-year-old male patient was hospitalized after a trip to Malaysia with strong greenish watery diarrhea and chills. On physical examination we saw a dehydrated patient in severely reduced general condition. The stool frequency was 30/d. The laboratory examinations only showed elevated parameters of inflammation. Plesiomonas shigelloides was cultivated in the stool cultures. With appropriate substitution of fluid and electrolytes, and antidiarrheal therapy the patient resumed a normal diet without any complications. Three days later his bowel movements were normal and his general condition was greatly improved. We withheld antibiotic therapy because of the noncomplicated course of illness. In Germany infections with Plesiomonas shigelloides are rare, an increase is observed because of increasing tourism to tropical regions. The course of infection is sometimes asymptomatic, but usually patients develop an acute gastroenteritis. Especially immunocompromised patients can show serious courses of infection. Plesiomonas shigelloides should be included in the differential diagnosis of acute gastroenteritis after journeys to tropical regions. Some of our patients, however, denied traveling to tropical regions. They also denied consuming seafood, which indicates a risk of infection in Germany. Still an infection with Plesiomonas shigelloides seems to be rare in northern European countries.

The burden of rare cancers in Italy: the surveillance of rare cancers in Italy (RITA) project.

Science.gov (United States)

Trama, Annalisa; Mallone, Sandra; Ferretti, Stefano; Meduri, Francesca; Capocaccia, Riccardo; Gatta, Gemma

2012-01-01

The project Surveillance of rare cancers in Italy (RITA) provides, for the first time, estimates of the burden of rare cancers in Italy based on the list of rare cancers proposed in collaboration with the European project Surveillance of Rare Cancers in Europe (RARECARE). RITA analyzed data from Italian population-based cancer registries (CR). The period of diagnosis was 1988 to 2002, and vital status information was available up to December 31, 2003. Incidence rates were estimated for the period 1995-2002, survival for the years 2000-2002 (with the period method of Brenner), and complete prevalence at January 1, 2003. Rare cancers are those with an incidence <6/100,000/year. In Italy, every year there are 60,000 new diagnoses of rare cancers corresponding to 15% of all new cancer diagnoses. Five-year relative survival was on the average worse for rare cancers (53%) than for common cancers (73%). A total of 770,000 patients were living in Italy in 2008 with a diagnosis of a rare cancer, 22% of the total cancer prevalence. Our estimates constitute a useful base for further research and support the idea that rare cancers are a public health problem that deserves attention. Centers of expertise for rare cancers that pool cases, expertise and resources could ensure an adequate clinical management for these diseases. Our data also showed that cancer registries are suitable sources of data to estimate incidence, prevalence and survival for rare cancers and should continue to monitoring rare cancers in Italy.

A rare presentation of hydatid cyst

International Nuclear Information System (INIS)

Sabir, N.; Yildirim, B.; Alatas, E.; Cetin, B.

2005-01-01

Hydatid disease, although known to occur in most body areas, is extremely rare in the female reproductive system. There are different modes of presentation for the disease; however, we report and discuss a case presented with cystic vesicles passing through the vagina, which is considered as a rare presentation for secondary involvement of the uterus and both ovaries. We confirmed diagnosis with radiological examinations and serological tests. We operated on the patient, and studied the excised cysts microscopically. The gynecologist should be aware of hydatid cyst when vaginally passing a grape like vesicle is presented by the patient. (author)

A Rare Case Presentation of a Perforated Giant Sigmoid Diverticulum

Directory of Open Access Journals (Sweden)

Jennifer C. Kam

2013-01-01

Full Text Available Giant sigmoid diverticulum (GSD is a rare complication of diverticulosis. These lesions arise from herniations of the mucosa through the muscle wall which progressively enlarge with colonic gas to become large air-filled cysts evident on plain X-ray and CT scans. We present a rare case of a 72-year-old female presenting with abdominal distention, abdominal tenderness, and fever who developed a type 1 giant sigmoid diverticulum (pseudodiverticulum that subsequently formed an intra-abdominal abscess and an accompanying type 2 diverticulum as well. The patient was treated with surgical resection of the diverticulum with a primary anastomosis and abscess drainage. The patient’s postoperative course was uneventful. This case helps to support the need for the consideration of GSD in patients aged 60 and older with a history of diverticulosis and presenting with abdominal discomfort and distension.

Comparison between Three Rare Cases of Co‑Infection with ...

African Journals Online (AJOL)

Co‑infection in immunocompetent patients is rare. Though co‑infection with dengue and leptospira cases is increasingly reported, a co‑infection of this combination along with hepatitis E is rarely thought of. Until date only two case of triple co‑infection have been reported world‑wide. Here, we are reporting a patient with ...

Two patients with rare mixed adenoneuroendocrine carcinomas of the rectum.

Science.gov (United States)

Gül-Klein, Safak; Sinn, Marianne; Jurmeister, Philipp Sebastian; Biebl, Matthias; Weiß, Sascha; Rau, Beate; Bläker, Hendrik; Pratschke, Johann; Aigner, Felix

2018-01-01

Mixed adenoneuroendocrine carcinomas of the gastrointestinal tract are until today poorly understood and thus very challenging for interdisciplinary therapy. We herewith report the first case series of patients with a primary mixed adenoneuroendocrine carcinoma of the rectum. Both cases were initially diagnosed as adenocarcinoma and only secondarily with mixed adenoneuroendocrine carcinoma and had a poor outcome due to a rapid tumor progression and resistance to chemotherapy. A 65-year-old female presented with local tumor recurrence and hepatopulmonary metastasis 1 year after primary surgery for adenocarcinoma of the rectum and consecutive radiochemotherapy regimen. Fluorouracil (5-FU) was followed by bevacizumab- and capecitabine-based chemotherapy but had to be discontinued due to side effects and progressive disease. Progressive local pain syndrome accompanied by recurrent bleeding episodes led to a local tumor-debulking operation. Afterward, mixed adenoneuroendocrine carcinoma as the underlying diagnosis in the final histopathological examination was detected. The patient died 3 months after the operation in the context of a fulminant tumor progress. A 63-year-old male patient underwent neoadjuvant radiochemotherapy and laparoscopic rectum resection. After 5 months, postoperative oxaliplatin/capecitabine-based adjuvant chemotherapy was switched to carboplatin/etopsid due to a progressive polyneuropathy and biopsy-proven pulmonary metastasis. The patient then had to be switched to local radiation of cerebral metastases and Topotecan due to cerebral bleeding episodes but died 18 months after the initial diagnosis. In conclusion of our case series, mixed adenoneuroendocrine carcinomas of the rectum should be considered as a rare but aggressive tumor entity. An early and detailed histopathological diagnosis is required in order to establish an individual interdisciplinary treatment concept.

e-ENERCA: telemedicine platform for rare anaemias

OpenAIRE

Béatrice Gulbis; María del Mar Mañú Pereira; Emilio J. Armaza Armaza; Pilar Nicolás; for the ENERCA working group

2014-01-01

The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better pa...

Cecal volvulus: a rare cause of bowel obstruction in a pediatric patient diagnosed pre-operatively by conventional imaging studies

International Nuclear Information System (INIS)

Vo, Nghia J.; O'Hara, Sara M.; Alonso, Maria H.

2005-01-01

Cecal volvulus is an acute surgical condition that is extremely rare in children, with a mortality rate of up to 40%. The clinical symptoms are often non-specific, and pediatric patients frequently have neurological deficits with associated communication difficulties, making the clinical diagnosis extremely challenging. Conventional radiographic imaging studies play a key role in the prospective diagnosis in children. We report a rare case of cecal volvulus in a 12-year-old boy who was diagnosed pre-operatively by abdominal radiographs and a contrast enema. (orig.)

Cecal volvulus: a rare cause of bowel obstruction in a pediatric patient diagnosed pre-operatively by conventional imaging studies

Energy Technology Data Exchange (ETDEWEB)

Vo, Nghia J.; O' Hara, Sara M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Alonso, Maria H. [Cincinnati Children' s Hospital Medical Center, Division of Pediatric and Thoracic Surgery, Cincinnati, Ohio (United States)

2005-11-01

Cecal volvulus is an acute surgical condition that is extremely rare in children, with a mortality rate of up to 40%. The clinical symptoms are often non-specific, and pediatric patients frequently have neurological deficits with associated communication difficulties, making the clinical diagnosis extremely challenging. Conventional radiographic imaging studies play a key role in the prospective diagnosis in children. We report a rare case of cecal volvulus in a 12-year-old boy who was diagnosed pre-operatively by abdominal radiographs and a contrast enema. (orig.)

Kimura's Disease: A Rare Cause of Postauricular Swelling

Directory of Open Access Journals (Sweden)

Suman Kumar Das

2017-04-01

Full Text Available Introduction Kimura’s Disease is a chronic inflammatory disorder of lymph node which is very rare in Indian population. Case Report A 15 year old boy with multiple postauricular swelling for 18 months presenting in OPD and diagnosed having eosinophilia. Then excision biopsy was taken, which indicates Kimura’s Disease. Patient was treated with high dose of corticosteroid. Conclusion Kimura’s disease, though rare should be kept in mind for treating a patient with lymphadenopathy with eosinophilia or high IgE level, because it can spare the patient unnecessary invasive procedure.

Unbiased identification of patients with disorders of sex development.

Directory of Open Access Journals (Sweden)

David A Hanauer

Full Text Available Disorders of sex development (DSD represent a collection of rare diseases that generate substantial controversy regarding best practices for diagnosis and treatment. A significant barrier preventing a better understanding of how patients with these conditions should be evaluated and treated, especially from a psychological standpoint, is the lack of systematic and standardized approaches to identify cases for study inclusion. Common approaches include "hand-picked" subjects already known to the practice, which could introduce bias. We implemented an informatics-based approach to identify patients with DSD from electronic health records (EHRs at three large, academic children's hospitals. The informatics approach involved comprehensively searching EHRs at each hospital using a combination of structured billing codes as an initial filtering strategy followed by keywords applied to the free text clinical documentation. The informatics approach was implemented to replicate the functionality of an EHR search engine (EMERSE available at one of the hospitals. At the two hospitals that did not have EMERSE, we compared case ascertainment using the informatics method to traditional approaches employed for identifying subjects. Potential cases identified using all approaches were manually reviewed by experts in DSD to verify eligibility criteria. At the two institutions where both the informatics and traditional approaches were applied, the informatics approach identified substantially higher numbers of potential study subjects. The traditional approaches yielded 14 and 28 patients with DSD, respectively; the informatics approach yielded 226 and 77 patients, respectively. The informatics approach missed only a few cases that the traditional approaches identified, largely because those cases were known to the study team, but patient data were not in the particular children's hospital EHR. The use of informatics approaches to search electronic documentation

Toxoplasmosis of spinal cord in acquired immunodeficiency syndrome patient presenting as paraparesis: A rare entity

Directory of Open Access Journals (Sweden)

Sachin R Agrawal

2014-01-01

Full Text Available Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count <100/mm 3 based on a positive serum Toxoplasma gondii IgG antibodies, no recent prophylaxis against toxoplasmosis, intramedullary ring enhancing lesion in spinal cord supported by similar lesions in brain parenchyma. Institutions of antitoxoplasma treatment in such patients result in prompt clinical response and therefore avoiding the need of unnecessary invasive diagnostic tests. Here, we report a case of toxoplasmic myelitis in immunocompromised patient presenting as myelopathy who showed significant clinical improvement after starting antitoxoplasma treatment. Hence toxoplasmic myelitis should be considered in toxoplasma seropositive immunocompromised patients presenting as myelopathy and imaging studies showing ring enhancing intramedullary lesion.

Collaboration for rare disease drug discovery research [v1; ref status: indexed, http://f1000r.es/4l6

Directory of Open Access Journals (Sweden)

Nadia K. Litterman

2014-10-01

Full Text Available Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.

Non-Hodgkin's lymphoma of the mandible in HIV patient - A Rare Case Report

Directory of Open Access Journals (Sweden)

Mahesh Neerupakam

2018-01-01

Full Text Available Non-Hodgkin's lymphoma (NHL is a lymphatic system tumor originating from either B or T lymphocytes and shows a high malignant potential. In HIV-seropositive patients, NHL of head and neck is mainly found in Waldeyer's ring, oral mucosa, salivary glands, paranasal sinuses, and laryngeal tissue. Primary NHL rarely affects the bone. When the lesion affects the bones of the jaws, it is rare in the mandible when compared to the maxilla. In the reported cases, only 0.6% are found in the mandible. NHL of the mandible can be difficult to diagnose, and so the prime aim of the present case report is to establish appropriate diagnosis of one of such kinds. Clinically, they may imitate a dental infection with symptoms of pain and discomfort. A delay in diagnosis may lead to a poor prognosis. Herewith, we present a case of NHL on the lower-right mandible in a 40-year-old male. A correlation of clinical findings, radiological examination, and histopathological examination enabled us in early diagnosis and differentiating it from other similar conditions, thus aiding in initiation of prompt treatment.

Obturator internus pyomyositis manifested as sciatica in a patient with subacute bacterial endocarditis: A rare case report.

Science.gov (United States)

Hsu, Wei-Ching; Hsu, Jin-Yi; Chen, Michael Yu-Chih; Liang, Chung-Chao

2016-07-01

Pyomyositis is a pyogenic infection of the skeletal muscles causing myalgia and fever in patients. Hematogenous seeding engendered by persistent bacteremia and septic embolism is usually the underlying cause of the disease. Trauma, intravenous drug use, and immunodeficiency are the main predisposing factors.Obturator internus pyomyositis with sciatica has not previously been reported. We report a rare case of a patient with subacute bacterial endocarditis presenting with left buttock pain and sciatica.Computed tomography confirmed the diagnosis of obturator internus pyomyositis. The patient was discharged uneventfully after successful antibiotic treatment.The mortality rate of patients who have pyomyositis comorbid with another condition or disease is extremely high. Early diagnosis and aggressive management are imperative.

Enzymatic approaches to rare sugar production.

Science.gov (United States)

Zhang, Wenli; Zhang, Tao; Jiang, Bo; Mu, Wanmeng

Rare sugars have recently attracted much attention because of their potential applications in the food, nutraceutical, and pharmaceutical industries. A systematic strategy for enzymatic production of rare sugars, named Izumoring, was developed >10years ago. The strategy consists of aldose-ketose isomerization, ketose C-3 epimerization, and monosaccharide oxidation-reduction. Recent development of the Izumoring strategy is reviewed herein, especially the genetic approaches to the improvement of rare sugar-producing enzymes and the applications of target-oriented bioconversion. In addition, novel non-Izumoring enzymatic approaches are also summarized, including enzymatic condensation, phosphorylation-dephosphorylation cascade reaction, aldose epimerization, ulosonic acid decarboxylation, and biosynthesis of rare disaccharides. Copyright © 2017 Elsevier Inc. All rights reserved.

Development of an EBIS charge breeder for the Rare Isotope Science Project

Science.gov (United States)

Son, Hyock-Jun; Park, Young-Ho; Kondrashev, Sergey; Kim, Jongwon; Lee, Bong Ju; Chung, Moses

2017-10-01

In Korea, a heavy ion accelerator facility called RAON is being designed to produce various rare isotopes for the Rare Isotope Science Project (RISP) (Jeong, 2016) [1], (Moon, 2014) [2]. This facility is designed to use both In-flight Fragment (IF) and Isotope Separation On-Line (ISOL) techniques in order to produce a wide variety of RI beams for nuclear physics experiments. An Electron Beam Ion Source (EBIS) will be used for charge breeding of Rare Isotope (RI) beams in the ISOL system. The charge-to-mass ratio (q/A) of the RI beams after charge breeding is ≥1/4. The highly charged RI beams will be accelerated by a linac post-accelerator and delivered to a low energy (∼18 MeV/u) experimental hall or the IF system. The RAON EBIS will use a 3 A electron gun and a 6 T superconducting solenoid for high capacity, high efficiency, and short breeding time. In front of the charge breeder, an RFQ cooler-buncher will be used to deliver a bunched beam with small emittance to the EBIS charge breeder. The main design of the RAON EBIS has been carried out on the basis of several beam analyses and technical reviews. In this paper, current progress of the development of the RAON EBIS charge breeder will be presented.

[Accessibility and quality to health social services in Italy for the patients with rare diseases: the opinion of associations].

Science.gov (United States)

Agazio, E; Salerno, P; Mirabella, F; Gnessi, F; Mastroiacovo, P; Morosini, P; Tarsitani, G; Taruscio, D

2005-01-01

This paper concerns the first phase of a study about the perception of social and health needs of people with rare diseases. The study was performed by the National Center for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità - ISS). The project wants to be an example of collaboration between the research and the association worlds. Responsible of Associations of Patients and their relatives were asked their opinion about the accessibility and quality of important features of health and social services (accessibility and quality of diagnostic, pharmacological, psychological and rehabilitative interventions, social support, school and vocational training, information that was given to relatives). An ad hoc questionnaire was developed through focus groups. The questionnaire was completed by 108 associations (26,5% of the associations thar are recorded in the ISS database). Average scores showed satisfaction only for some variables and a negative gradient north-south was observed. The most frequent complaints were about information, quality of school and job training services and availability of psychological support. The study showed an high level of dissatisfaction with availability, quality and integration health and social services.

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

Directory of Open Access Journals (Sweden)

Edoardo Giacopuzzi

Full Text Available Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171 between genes inside ROHs affected by low frequency functional homozygous variants (107 genes and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8 and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2. These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

Science.gov (United States)

Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara

2017-01-01

Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Science.gov (United States)

Lambertus, Stanley; Bax, Nathalie M; Fakin, Ana; Groenewoud, Joannes M M; Klevering, B Jeroen; Moore, Anthony T; Michaelides, Michel; Webster, Andrew R; van der Wilt, Gert Jan; Hoyng, Carel B

2017-01-01

Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date) and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including variable rates of functional and structural progression, thereby potentially limiting the ability of phase I/II clinical trials to assess efficacy of novel therapies with few patients. To accommodate this problem, we developed and validated a sensitive and reliable composite clinical trial endpoint for disease progression based on structural measurements of retinal degeneration. We used longitudinal data from early-onset Stargardt patients from the Netherlands (development cohort, n = 14) and the United Kingdom (external validation cohort, n = 18). The composite endpoint was derived from best-corrected visual acuity, fundus autofluorescence, and spectral-domain optical coherence tomography. Weighting optimization techniques excluded visual acuity from the composite endpoint. After optimization, the endpoint outperformed each univariable outcome, and showed an average progression of 0.41° retinal eccentricity per year (95% confidence interval, 0.30-0.52). Comparing with actual longitudinal values, the model accurately predicted progression (R2, 0.904). These properties were largely preserved in the validation cohort (0.43°/year [0.33-0.53]; prediction: R2, 0.872). We subsequently ran a two-year trial simulation with the composite endpoint, which detected a 25% decrease in disease progression with 80% statistical power using only 14 patients. These results suggest that a multimodal endpoint, reflecting structural macular changes, provides a sensitive measurement of disease progression in

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Directory of Open Access Journals (Sweden)

Stanley Lambertus

Full Text Available Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including variable rates of functional and structural progression, thereby potentially limiting the ability of phase I/II clinical trials to assess efficacy of novel therapies with few patients. To accommodate this problem, we developed and validated a sensitive and reliable composite clinical trial endpoint for disease progression based on structural measurements of retinal degeneration.We used longitudinal data from early-onset Stargardt patients from the Netherlands (development cohort, n = 14 and the United Kingdom (external validation cohort, n = 18. The composite endpoint was derived from best-corrected visual acuity, fundus autofluorescence, and spectral-domain optical coherence tomography. Weighting optimization techniques excluded visual acuity from the composite endpoint. After optimization, the endpoint outperformed each univariable outcome, and showed an average progression of 0.41° retinal eccentricity per year (95% confidence interval, 0.30-0.52. Comparing with actual longitudinal values, the model accurately predicted progression (R2, 0.904. These properties were largely preserved in the validation cohort (0.43°/year [0.33-0.53]; prediction: R2, 0.872. We subsequently ran a two-year trial simulation with the composite endpoint, which detected a 25% decrease in disease progression with 80% statistical power using only 14 patients.These results suggest that a multimodal endpoint, reflecting structural macular changes, provides a sensitive measurement of disease

A Rare Disease in Adult: Langerhans Cell Histiocytosis

Science.gov (United States)

Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Koroglu, Mustafa; Kaya, Emin; Unlu, Serkan

2013-01-01

Langerhans cell histiocytosis is a rare histiocytic disorder and has been diagnosed in all age groups, but is most common in children. This disease is very rare in adults. We presented a patient who was 62 years old man diagnosed langerhans cell histiocytosis. PMID:29147350

The Development of HfO2-Rare Earth Based Oxide Materials and Barrier Coatings for Thermal Protection Systems

Science.gov (United States)

Zhu, Dongming; Harder, Bryan James

2014-01-01

Advanced hafnia-rare earth oxides, rare earth aluminates and silicates have been developed for thermal environmental barrier systems for aerospace propulsion engine and thermal protection applications. The high temperature stability, low thermal conductivity, excellent oxidation resistance and mechanical properties of these oxide material systems make them attractive and potentially viable for thermal protection systems. This paper will focus on the development of the high performance and high temperature capable ZrO2HfO2-rare earth based alloy and compound oxide materials, processed as protective coating systems using state-or-the-art processing techniques. The emphasis has been in particular placed on assessing their temperature capability, stability and suitability for advanced space vehicle entry thermal protection systems. Fundamental thermophysical and thermomechanical properties of the material systems have been investigated at high temperatures. Laser high-heat-flux testing has also been developed to validate the material systems, and demonstrating durability under space entry high heat flux conditions.

Economic Modeling Considerations for Rare Diseases.

Science.gov (United States)

Pearson, Isobel; Rothwell, Ben; Olaye, Andrew; Knight, Christopher

2018-05-01

To identify challenges that affect the feasibility and rigor of economic models in rare diseases and strategies that manufacturers have employed in health technology assessment submissions to demonstrate the value of new orphan products that have limited study data. Targeted reviews of PubMed, the National Institute for Health and Care Excellence's (NICE's) Highly Specialised Technologies (HST), and the Scottish Medicines Consortium's (SMC's) ultra-orphan submissions were performed. A total of 19 PubMed studies, 3 published NICE HSTs, and 11 ultra-orphan SMC submissions were eligible for inclusion. In rare diseases, a number of different factors may affect the model's ability to comply with good practice recommendations. Many products for the treatment of rare diseases have an incomplete efficacy and safety profile at product launch. In addition, there is often limited available natural history and epidemiology data. Information on the direct and indirect cost burden of an orphan disease also may be limited, making it difficult to estimate the potential economic benefit of treatment. These challenges can prevent accurate estimation of a new product's benefits in relation to costs. Approaches that can address such challenges include using patient and/or clinician feedback to inform model assumptions; data from disease analogues; epidemiological techniques, such as matching-adjusted indirect comparison; and long-term data collection. Modeling in rare diseases is often challenging; however, a number of approaches are available to support the development of model structures and the collation of input parameters and to manage uncertainty. Copyright © 2018 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Neuroblastoma trial to overcome a rare malignant disease

International Nuclear Information System (INIS)

Fukushima, Takashi; Shichino, Hiroyuki; Kumagai, Masaaki

2007-01-01

Neuroblastoma is one of the main causes of children's deaths in Japan and many developed countries, although it is a rather rare pediatric cancer. Many clinical studies have been carried out and reported. The clinical study system of Japan is much different from the systems of the other countries. In Japan, the main hospitals, where clinical study including clinical trials have been conducted, are not only national centers but also many regional or prefectural centers. Progression-free survival has been achieved in over 80% of low-risk patients, and in about 40% of high-risk patients. These are the same as the outcomes of neuroblastoma patients in European countries and North America. Further clinical studies and translational research should be planned especially regarding high-risk neuroblastomas. (author)

A rare presentation of patent ductus arteriosus in an adult patient with normal pulmonary hypertension and limb edema

Directory of Open Access Journals (Sweden)

Bahram Pishgoo

2014-09-01

Full Text Available BACKGROUND: Patent ductus arteriosus (PDA at childhood is one of the five major and frequent congenital abnormalities, but it can be rarely seen in adults. Pulmonary hypertension (PHTN and other presentations such as heart failure and edema are the identified complications of longstanding PDA, but adult case with no permanent heart symptoms and PHTN was rare. We reported a rare case of with an obvious PDA and normal pulmonary pressure. CASE REPORT: A 61-year-old woman presented with dyspnea (New York Heart Association class 2, chest pain, and lower limb edema. Echocardiogram showed; normal left ventricular chamber size and function, normal size of both atria. Furthermore, an obvious PDA (diameter = 6-7 mm connecting the aortic arch to the pulmonary artery was reported in echocardiography. No lung congestion and evidence for PHTN was reported by computed tomographic angiography [Pulmonary capillary wedge pressure (PCWP = 30 mmHg]. The patient was treated with antihypertensive drugs and after 1 and 3 months follow-up, edema and other symptoms were resolved. CONCLUSION: Finally, we conclude that PDA in adulthood can present with nonspecific cardiovascular symptoms, and it seems that PHTN is not a fixed echocardiographic finding in these patients.   Keywords: Adults, Edema, Patent Ductus Arteriosus eri, Pulmonary Hypertension  Normal 0 false false false EN-US X-NONE AR-SA

Rare earth element and rare metal inventory of central Asia

Science.gov (United States)

Mihalasky, Mark J.; Tucker, Robert D.; Renaud, Karine; Verstraeten, Ingrid M.

2018-03-06

Rare earth elements (REE), with their unique physical and chemical properties, are an essential part of modern living. REE have enabled development and manufacture of high-performance materials, processes, and electronic technologies commonly used today in computing and communications, clean energy and transportation, medical treatment and health care, glass and ceramics, aerospace and defense, and metallurgy and chemical refining. Central Asia is an emerging REE and rare metals (RM) producing region. A newly compiled inventory of REE-RM-bearing mineral occurrences and delineation of areas-of-interest indicate this region may have considerable undiscovered resources.

A rare ultrasound presentation of splenic lesion in a patient with disseminated Penicillium marneffei infection

International Nuclear Information System (INIS)

Tan, Rong; Xiao, Ying; Tang, Qi; Zhang, Ying

2013-01-01

Focal hypoechoic lesions in the spleen often represent malignant disease in patients with acquired immune deficiency syndrome (AIDS). However, some infection can produce similar images. The abdominal ultrasound imaging about disseminated Penicillium marneffei (P. marneffei) infection has been rarely described in the medical literature. This case report presents a 47-year-old Chinese man with newly diagnosed AIDS who was infected by P. marneffei. An isolated splenic lesion was detected by ultrasound scan before, and assessed following, diagnostic treatment.

Diffuse corpus callosum infarction - Rare vascular entity with differing etiology.

Science.gov (United States)

Mahale, Rohan; Mehta, Anish; Buddaraju, Kiran; John, Aju Abraham; Javali, Mahendra; Srinivasa, Rangasetty

2016-01-15

Infarctions of the corpus callosum are rare vascular events. It is relatively immune to vascular insult because of its rich vascular supply from anterior and posterior circulations of brain. Report of 3 patients with largely diffuse acute corpus callosum infarction. 3 patients with largely diffuse acute corpus callosum infarction were studied and each of these 3 patients had 3 different aetiologies. The 3 different aetiologies of largely diffuse acute corpus callosum infarction were cardioembolism, tuberculous arteritis and takayasu arteritis. Diffuse corpus callosum infarcts are rare events. This case series narrates the three different aetiologies of diffuse acute corpus callosum infarction which is a rare vascular event. Copyright © 2015 Elsevier B.V. All rights reserved.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Science.gov (United States)

Boycott, Kym M; Rath, Ana; Chong, Jessica X; Hartley, Taila; Alkuraya, Fowzan S; Baynam, Gareth; Brookes, Anthony J; Brudno, Michael; Carracedo, Angel; den Dunnen, Johan T; Dyke, Stephanie O M; Estivill, Xavier; Goldblatt, Jack; Gonthier, Catherine; Groft, Stephen C; Gut, Ivo; Hamosh, Ada; Hieter, Philip; Höhn, Sophie; Hurles, Matthew E; Kaufmann, Petra; Knoppers, Bartha M; Krischer, Jeffrey P; Macek, Milan; Matthijs, Gert; Olry, Annie; Parker, Samantha; Paschall, Justin; Philippakis, Anthony A; Rehm, Heidi L; Robinson, Peter N; Sham, Pak-Chung; Stefanov, Rumen; Taruscio, Domenica; Unni, Divya; Vanstone, Megan R; Zhang, Feng; Brunner, Han; Bamshad, Michael J; Lochmüller, Hanns

2017-05-04

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

Celiac crisis: a rare or rarely recognized disease

International Nuclear Information System (INIS)

Waheed, N.; Cheema, H.A.; Suleman, H.; Fayyaz, Z.; Mushtaq, I.

2017-01-01

Celiac crisis is a serious life threatening complication of celiac disease characterized by profuse diarrhoea, severe dehydration and metabolic disturbances leading to neuromuscular weakness, cardiac arrhythmias and sudden death. It has been described as rare condition and not well documented in the literature. To improve awareness and facilitate diagnosis of this condition, we studied risk factors, pattern of presentation and management plans of celiac crisis. Methods: It was a descriptive cross sectional study. Patients presenting in emergency room(ER) with profuse diarrhoea leading to severe dehydration, neuromuscular weakness, and metabolic acidosis and electrolyte abnormalities enrolled in the studies after positive serology and small bowel biopsy suggestive of celiac disease. Results: Total 126 patients out of 350 fulfilled the criteria including 54 (42.8 percent) male and 71 (56.3 percent) female. The mean age at presentation was 5.25+-1.18 years. Risk factors were poor social status (97.60 percent), consanguinity (96.77 percent), early weaning with gluten contained diet (93.54 percent), and Presenting complaints were loose motion (100 percent), loss of neck holding (96.77 percent), dehydration (96.77 percent), polyuria (95.96 percent), inability to walk (67.74 percent), abdominal distension (85.86 percent). Electrolytes imbalances were hypokalaemia (2.4+-0.55), hypocalcaemia (7.29+-0.66), hypomagnesaemia (1.89+-0.50), hypophosphatemia (2.8+-0.68), hypoalbuminemia (3.05+-0.48) and metabolic acidosis (96 percent). One hundred and twenty patients were stabilized with GFD and correction of dehydration, acidosis and electrolyte imbalance. Six patients needed parenteral steroids ant total parenteral nutrition (TPN). Recovery time from crisis was mean 5.4+-2.73 days (range 3-20 days). Conclusion: Celiac crisis is a common but under recognized problem in developing countries. Commonest presenting feature is neuromuscular paralysis and biochemical abnormality is

A Rare Reason of Ileus in Renal Transplant Patients With Peritoneal Dialysis History: Encapsulated Peritoneal Sclerosis.

Science.gov (United States)

Gökçe, Ali Murat; Özel, Leyla; İbişoğlu, Sevinç; Ata, Pınar; Şahin, Gülizar; Gücün, Murat; Kara, V Melih; Özdemir, Ebru; Titiz, M İzzet

2015-12-01

Encapsulating peritoneal sclerosis is a rare complication of long-term peritoneal dialysis ranging from moderate inflammation of peritoneal structures to severe sclerosing peritonitis and encapsulating peritoneal sclerosis. Complicated it, ileus may occur during or after peritoneal dialysis treatment or after kidney transplant. We sought to evaluate 3 posttransplant encapsulating peritoneal sclerosis through clinical presentation, radiologic findings, and outcomes. We analyzed 3 renal transplant patients with symptoms of encapsulating peritoneal sclerosis admitted posttransplant to our hospital with ileus between 2012 and 2013. Conservative treatment was applied to the patients whenever necessary to avoid surgery. One patient improved with medical therapy. Surgical treatment was delayed and we decided it as a last resort, in 2 cases with no response to conservative treatment for a long time. Finally, patients with peritoneal dialysis history should be searched carefully before renal transplant for intermittent bowel obstruction story.

Rare malignancies of the bladder: Case series and review of the literature

Directory of Open Access Journals (Sweden)

Taha Numan Yıkılmaz

2014-12-01

Full Text Available Patients who operated the diagnosis with bladder cancer were evaluated retrospectively. Patients with a rare pathology was determined. Rare tumors of the bladder was investigated by examining the literature. Our clinic diagnosis and treatment algorithms were compared with the literature. A rare tumor of the bladder cannot be recognized by most urologists and pathologists. Therefore, it can cause difficulties during diagnosis and treatment.

Crusted piloleiomyoma with mental retardation: A rare association

Directory of Open Access Journals (Sweden)

Kamboj Sangeeta

2009-01-01

Full Text Available Piloleiomyoma is an uncommon benign smooth muscle neoplasm arising from arrector pili muscle. It is clinically defined by the presence of solitary or multiple reddish brown, dome-shaped, smooth papules or nodules, ranging in size from a few millimeters to a centimeter. The patients are otherwise healthy; but mental retardation developing in some patients with multiple Piloleiomyomas has been emerging as an intriguing matter for analysis by the scientists. In this case report, a mentally retarded patient with Piloleiomyoma is described, who, besides the characteristic smooth and dome-shaped lesions on the anterolateral aspect of the dorsum of the right foot, had developed crusting on one of the largest lesions. The histopathological features were consistent with Piloleiomyoma. The occurrence of Piloleiomyoma in a mentally retarded child and its unusual crusted nature has been rarely reported. The association between Piloleiomyoma and mental retardation is further stressed in this case report.

Financing translation: analysis of the NCATS rare-diseases portfolio.

Science.gov (United States)

Fagnan, David E; Yang, N Nora; McKew, John C; Lo, Andrew W

2015-02-25

The portfolio of the National Center for Advancing Translational Sciences (NCATS) rare-diseases therapeutic development program comprises 28 research projects initiated at the preclinical stage. Historical data reveal substantially lower costs and higher success rates but longer preclinical timelines for the NCATS projects relative to the industry averages for early-stage translational medical research and development (R&D) typically cited in literature. Here, we evaluate the potential risks and rewards of investing in a portfolio of rare-disease therapeutics. Using a "megafund" financing structure, NCATS data, and valuation estimates from a panel of industry experts, we simulate a hypothetical megafund in which senior and junior debt yielded 5 and 8%, respectively. The simulated expected return to equity was 14.7%, corresponding to a modified internal rate of return of 21.6%. These returns and the likelihood of private-sector funding can be enhanced through third-party funding guarantees from philanthropies, patient advocacy groups, and government agencies. Copyright © 2015, American Association for the Advancement of Science.

Genomic analysis and selected molecular pathways in rare cancers

International Nuclear Information System (INIS)

Liu, Stephen V; Lenkiewicz, Elizabeth; Evers, Lisa; Holley, Tara; Kiefer, Jeffrey; Demeure, Michael J; Ramanathan, Ramesh K; Von Hoff, Daniel D; Barrett, Michael T; Ruiz, Christian; Glatz, Katharina; Bubendorf, Lukas; Eng, Cathy

2012-01-01

It is widely accepted that many cancers arise as a result of an acquired genomic instability and the subsequent evolution of tumor cells with variable patterns of selected and background aberrations. The presence and behaviors of distinct neoplastic cell populations within a patient's tumor may underlie multiple clinical phenotypes in cancers. A goal of many current cancer genome studies is the identification of recurring selected driver events that can be advanced for the development of personalized therapies. Unfortunately, in the majority of rare tumors, this type of analysis can be particularly challenging. Large series of specimens for analysis are simply not available, allowing recurring patterns to remain hidden. In this paper, we highlight the use of DNA content-based flow sorting to identify and isolate DNA-diploid and DNA-aneuploid populations from tumor biopsies as a strategy to comprehensively study the genomic composition and behaviors of individual cancers in a series of rare solid tumors: intrahepatic cholangiocarcinoma, anal carcinoma, adrenal leiomyosarcoma, and pancreatic neuroendocrine tumors. We propose that the identification of highly selected genomic events in distinct tumor populations within each tumor can identify candidate driver events that can facilitate the development of novel, personalized treatment strategies for patients with cancer. (paper)

Acquired von Willebrand syndrome: A rare disorder of heterogeneous etiology

Directory of Open Access Journals (Sweden)

P Kasatkar

2013-01-01

Full Text Available Context: Acquired von Willebrand syndrome (AVWS is a rare bleeding disorder that mimics the inherited form of von Willebrand disease (VWD in terms of laboratory findings and clinical presentation. Aims: To study the etiology of acquired VWD. Settings and Design: The patients referred from various hospitals in and out of Mumbai were included in the study. Materials and Methods: Six patients with AVWS diagnosed at this center over the last 10 years were analyzed against 171 patients with inherited VWD. The differential diagnosis of AVWS was made based on reduced levels of von Willebrand antigen and von Willebrand ristocetin cofactor, decrease in ristocetin induced platelet aggregation, absence of correction in mixing studies with no prior history of bleeding problems and a negative family history for bleeding disorders. Results: In three patients, the disease was associated with systematic lupus erythematosus, out of which one was also associated with Kikuchi lymphadenitis and second with autoimmune hemolytic anemia. Fourth case was associated with hypothyroidism and fifth was a case of dermatitis and vitiligo. The last patient was a case of hemophilia A with Burkitts lymphoma, who developed autoantibodies to von Willebrand factor. Except two patients, all other patients responded to immune suppressive therapy with corticosteroids, while the patient with hypothyroidism responded to oral thyroxine. Conclusion: AVWS is a rare condition and may often be missed or diagnosed as inherited disease associated with heterogeneous disease conditions.

Development of Rare Bacterial Monosaccharide Analogs for Metabolic Glycan Labeling in Pathogenic Bacteria.

Science.gov (United States)

Clark, Emily L; Emmadi, Madhu; Krupp, Katharine L; Podilapu, Ananda R; Helble, Jennifer D; Kulkarni, Suvarn S; Dube, Danielle H

2016-12-16

Bacterial glycans contain rare, exclusively bacterial monosaccharides that are frequently linked to pathogenesis and essentially absent from human cells. Therefore, bacterial glycans are intriguing molecular targets. However, systematic discovery of bacterial glycoproteins is hampered by the presence of rare deoxy amino sugars, which are refractory to traditional glycan-binding reagents. Thus, the development of chemical tools that label bacterial glycans is a crucial step toward discovering and targeting these biomolecules. Here, we explore the extent to which metabolic glycan labeling facilitates the studying and targeting of glycoproteins in a range of pathogenic and symbiotic bacterial strains. We began with an azide-containing analog of the naturally abundant monosaccharide N-acetylglucosamine and discovered that it is not broadly incorporated into bacterial glycans, thus revealing a need for additional azidosugar substrates to broaden the utility of metabolic glycan labeling in bacteria. Therefore, we designed and synthesized analogs of the rare deoxy amino d-sugars N-acetylfucosamine, bacillosamine, and 2,4-diacetamido-2,4,6-trideoxygalactose and established that these analogs are differentially incorporated into glycan-containing structures in a range of pathogenic and symbiotic bacterial species. Further application of these analogs will refine our knowledge of the glycan repertoire in diverse bacteria and may find utility in treating a variety of infectious diseases with selectivity.

Social media methods for studying rare diseases.

Science.gov (United States)

Schumacher, Kurt R; Stringer, Kathleen A; Donohue, Janet E; Yu, Sunkyung; Shaver, Ashley; Caruthers, Regine L; Zikmund-Fisher, Brian J; Fifer, Carlen; Goldberg, Caren; Russell, Mark W

2014-05-01

For pediatric rare diseases, the number of patients available to support traditional research methods is often inadequate. However, patients who have similar diseases cluster "virtually" online via social media. This study aimed to (1) determine whether patients who have the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB) would participate in online research, and (2) explore response patterns to examine social media's role in participation compared with other referral modalities. A novel, internet-based survey querying details of potential pathogenesis, course, and treatment of PLE and PB was created. The study was available online via web and Facebook portals for 1 year. Apart from 2 study-initiated posts on patient-run Facebook pages at the study initiation, all recruitment was driven by study respondents only. Response patterns and referral sources were tracked. A total of 671 respondents with a Fontan palliation completed a valid survey, including 76 who had PLE and 46 who had PB. Responses over time demonstrated periodic, marked increases as new online populations of Fontan patients were reached. Of the responses, 574 (86%) were from the United States and 97 (14%) were international. The leading referral sources were Facebook, internet forums, and traditional websites. Overall, social media outlets referred 84% of all responses, making it the dominant modality for recruiting the largest reported contemporary cohort of Fontan patients and patients who have PLE and PB. The methodology and response patterns from this study can be used to design research applications for other rare diseases. Copyright © 2014 by the American Academy of Pediatrics.

Study of the oxides nature effect of rare and rare earth elements on the aluminium-chromium catalyst properties

International Nuclear Information System (INIS)

Dadashev, B.A.; Abbasov, S.G.; Sarydzhanov, A.A.; AN Azerbajdzhanskoj SSR, Baku. Inst. Neftekhimicheskikh Protsessov)

1975-01-01

Adsorption studies have shown that oxides of rare and rare earth elements REE appreciably influence the structure of aluminium-chrome catalyst. Alkaline promotors, unlike REE, contribute to the formation of developed contact surface. Electrophysical investigations show that oxides of rare elements introduced into the catalyst increase its conductivity and activation energy. As for REE oxides, they decrease the conductivity and increase the activation energy. Catalysts with developed surface and high conductivity are also more active in the reaction of isopentane dehydration

Rare cancers are not so rare: The rare cancer burden in Europe

NARCIS (Netherlands)

Gatta, Gemma; van der Zwan, Jan Maarten; Casali, Paolo G.; Siesling, Sabine; Dei Tos, Angelo Paolo; Kunkler, Ian; Otter, Renee; Licitra, Lisa

2011-01-01

Purpose: Epidemiologic information on rare cancers is scarce. The project Surveillance of Rare Cancers in Europe (RARECARE) provides estimates of the incidence, prevalence and survival of rare cancers in Europe based on a new and comprehensive list of these diseases. Materials and methods: RARECARE

A Rare Thyroid Metastasis from Uveal Melanoma and Response to Immunotherapy Agents

Directory of Open Access Journals (Sweden)

Dearbhaile Catherine Collins

2016-01-01

Full Text Available Thyroid metastasis is a rare occurrence with cutaneous melanoma and even more uncommon with uveal melanoma. The management of such metastasis is uncertain due to its infrequency and, in the era of immunotherapy, the effect of these novel drugs on uncommon metastasis, such as to the thyroid, is unknown. We report the rare case of a thyroid metastasis in a patient diagnosed with ocular melanoma initially managed with enucleation. Metastatic disease developed in the lung and thyroid gland. The case patient received the immunotherapy ipilimumab with stable disease in the thyroid and progressive disease elsewhere. The patient was then further treated with a second immunotherapy agent, pembrolizumab, and remains with stable disease one year later. We discuss the current literature on thyroid metastases from all causes and the optimal known management strategies. Furthermore, we provide an original report on the response of this disease to the novel immunomodulators, ipilimumab, and pembrolizumab with stable disease four years after initial diagnosis of ocular melanoma.

A case report on esophageal tuberculosis – A rare entity

Directory of Open Access Journals (Sweden)

Vatsal Khanna

2017-01-01

Full Text Available This is a case report of a rare form of tuberculosis in a patient presenting with dysphagia. Patient was subjected to upper gastrointestinal endoscopy, which revealed an ulcerative growth in the distal esophagus. Histopathology revealed esophageal tuberculosis. Patient was managed conservatively with Anti-Tuberculosis Treatment (ATT. Follow up endoscopy after two months revealed resolution of the growth and patient was symptomatically better. In spite of the rare nature of the disease, it can be managed effectively with ATT to avoid complications (fistula, stricture, and esophageal perforation, which might warrant surgery.

A Rare Complication of Hyperplastic Gastric Polyp

Directory of Open Access Journals (Sweden)

Suresh Kumar Nayudu

2013-01-01

Full Text Available Hyperplastic gastric polyps are incidentally diagnosed during upper gastrointestinal endoscopy. They are known to cause gastric outlet obstruction and chronic blood loss leading to iron deficiency anemia. However, hyperplastic gastric polyp presenting as acute severe upper gastrointestinal bleeding is very rare. To the best of our knowledge, there have been two cases of hyperplastic gastric polyps presenting as acute gastrointestinal bleeding in the medical literature. We present a case of a 56-year-old African American woman who was admitted to our hospital with symptomatic anemia and sepsis. The patient developed acute upper gastrointestinal bleeding during her hospital stay. She underwent emergent endoscopy, but bleeding could not be controlled. She underwent emergent laparotomy and wedge resection to control the bleeding. Biopsy of surgical specimen was reported as hyperplastic gastric polyp. We recommend that physicians should be aware of this rare serious complication of hyperplastic gastric polyps as endoscopic polypectomy has diagnostic and therapeutic benefits in preventing future complications including bleeding.

Recommendations for centres of expertise in rare anaemias. The ENERCA White Book

Directory of Open Access Journals (Sweden)

Joan-Lluis Vives Corrons

2014-12-01

Full Text Available The Community added value of Centres of Expertise (CoE and European Reference Networks (ERN is particularly high for rare diseases (RD due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare diseases. This applies particularly to rare anaemias due to the high number of different rare diseases that constitute this group. In this context, the European Network for Rare and Congenital Anaemias (ENERCA, co-financed by the European Commission, was created in 2002 with the aim of prevention and management of rare anaemias (RA and the development and promotion of policies to improve the well-being of European Union citizens. The ENERCA White Book is a position paper, developed as a deliverable of the ENERCA (phase 3 project that intends to contribute to the creation of a ERN in RA (ERN-RA by preparation of the recommendations and, in particular, the definition of the criteria that CoE, local centres (LC and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process. One particular characteristic of the White Book is the integration of the three main aspects of a CoE: a ethical and legal frameworks to ensure the non-discrimination and non-stigmatisation of rare

Myxedema Coma with Reversible Cardiopulmonary Failure: a Rare Entity in 21St Century.

Science.gov (United States)

Dhakal, Prajwal; Pant, Manisha; Acharya, Pranab Sharma; Dahal, Sumit; Bhatt, Vijaya Raj

2015-09-01

Myxedema coma, a rare entity in 21st century in developed nations, is a decompensated phase of hypothyroidism with high mortality rates. We describe a young woman with myxedema, who developed respiratory failure, congestive heart failure and significant pericardial effusion, some of the uncommon manifestations. Decreased cardiac contractility can result in cardiomyopathy and heart failure. As illustrated by this case, myxedema can also result in significant pericardial effusion due to increased vascular permeability. Myxedema can further be complicated by alveolar hypoventilation and respiratory failure secondary to the lack of central drive as well as respiratory muscle weakness. Prompt therapy with thyroid hormone replacement, glucocorticoid therapy, aggressive supportive care and management of the precipitating event can save lives and reverse the cardiopulmonary symptoms, as in our patient. Hence, physicians should have a high index of suspicion for myxedema coma in patients with unexplained cardiopulmonary failure. Our report is, therefore, aimed at bringing awareness about the rare but fatal manifestations of myxedema coma.

[Registries for rare diseases : OSSE - An open-source framework for technical implementation].

Science.gov (United States)

Storf, Holger; Schaaf, Jannik; Kadioglu, Dennis; Göbel, Jens; Wagner, Thomas O F; Ückert, Frank

2017-05-01

Meager amounts of data stored locally, a small number of experts, and a broad spectrum of technological solutions incompatible with each other characterize the landscape of registries for rare diseases in Germany. Hence, the free software Open Source Registry for Rare Diseases (OSSE) was created to unify and streamline the process of establishing specific rare disease patient registries. The data to be collected is specified based on metadata descriptions within the registry framework's so-called metadata repository (MDR), which was developed according to the ISO/IEC 11179 standard. The use of a central MDR allows for sharing the same data elements across any number of registries, thus providing a technical prerequisite for making data comparable and mergeable between registries and promoting interoperability.With OSSE, the foundation is laid to operate linked patient registries while respecting strong data protection regulations. Using the federated search feature, data for clinical studies can be identified across registries. Data integrity, however, remains intact since no actual data leaves the premises without the owner's consent. Additionally, registry solutions other than OSSE can participate via the OSSE bridgehead, which acts as a translator between OSSE registry networks and non-OSSE registries. The pseudonymization service Mainzelliste adds further data protection.Currently, more than 10 installations are under construction in clinical environments (including university hospitals in Frankfurt, Hamburg, Freiburg and Münster). The feedback given by the users will influence further development of OSSE. As an example, the installation process of the registry for undiagnosed patients at University Hospital Frankfurt is described in more detail.

Therapeutics for Rare and Neglected Diseases

Data.gov (United States)

Federal Laboratory Consortium — There are more than 6,500 identified rare and neglected diseases, yet only about 250 treatments are available for these conditions. The limited numbers of patients...

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Science.gov (United States)

Le Ber, Isabelle; Van Bortel, Inge; Nicolas, Gael; Bouya-Ahmed, Kawtar; Camuzat, Agnès; Wallon, David; De Septenville, Anne; Latouche, Morwena; Lattante, Serena; Kabashi, Edor; Jornea, Ludmila; Hannequin, Didier; Brice, Alexis

2014-04-01

hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD patients so far. We sequenced both genes in 17 patients with MSP phenotypes, and in 60 patients with FTLD and FTLD-ALS to test whether mutations could be implicated in the pathogenesis of these disorders. No disease-causing mutation was identified. We conclude that hnRNPA2B1 and hnRNPA1 mutations are rare in MSP and FTLD spectrum of diseases, although further investigations in larger populations are needed. Copyright © 2014 Elsevier Inc. All rights reserved.

A rare condition of anorectal dysfunction in a patient with multiple sclerosis: Coexistence of faecal incontinence and mechanical constipation: Report of case.

Science.gov (United States)

Dandin, Özgür; Akpak, Yaşam Kemal; Karakaş, Dursun Özgür; Hazer, Batuhan; Ergin, Tuncer; Dandinoğlu, Taner; Teomete, Uygar

2014-01-01

Multiple sclerosis is a chronic demyelinating neurological disease and causing a variety of neurological symptoms, including discomfort of anorectal function. Constipation and faecal incontinence present as anorectal dysfunction in MS and anal manometry, colonic transit time, electromyography, and defecography can be used for assessment. We presented a thirty-three years old woman with rare condition of anorectal dysfunction in multiple sclerosis. Anal manometry, defecography were done, and synchronously anal incontinence and mechanical constipation due to rectocele and anismus were detected in this patient. Although anal incontinence and constipation are seen often in patients with multiple sclerosis, in the literature, coexistence of animus, rectocele and anal incontinence are quite rare. Defecography and anal manometry are useful diagnostic methods for demonstration of anorectal dysfuntions in patients with MS. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Networking for ovarian rare tumors: a significant breakthrough improving disease management.

Science.gov (United States)

Chiannilkulchai, N; Pautier, P; Genestie, C; Bats, A S; Vacher-Lavenu, M C; Devouassoux-Shisheboran, M; Treilleux, I; Floquet, A; Croce, S; Ferron, G; Mery, E; Pomel, C; Penault-Llorca, F; Lefeuvre-Plesse, C; Henno, S; Leblanc, E; Lemaire, A S; Averous, G; Kurtz, J E; Ray-Coquard, I

2017-06-01

Rare ovarian tumors represent >20% of all ovarian cancers. Given the rarity of these tumors, natural history, prognostic factors are not clearly identified. The extreme variability of patients (age, histological subtypes, stage) induces multiple and complex therapeutic strategies. Since 2011, a national network with a dedicated system for referral, up to 22 regional and three national reference centers (RC) has been supported by the French National Cancer Institute (INCa). The network aims to prospectively monitor the management of rare ovarian tumors and provide an equal access to medical expertise and innovative treatments to all French patients through a dedicated website, www.ovaire-rare.org. Over a 5-year activity, 4612 patients have been included. Patients' inclusions increased from 553 in 2011 to 1202 in 2015. Expert pathology review and patients' files discussion in dedicated multidisciplinary tumor boards increased from 166 cases in 2011 (25%) to 538 (45%) in 2015. Pathology review consistently modified the medical strategy in 5-9% every year. The rate of patients' files discussed in RC similarly increased from 294 (53%) to 789 (66%). An increasing number (357 in 5 years) of gynecologic (non-ovarian) rare tumors were also registered by physicians seeking for pathological or medical advice from expert tumor boards. Such a nation-wide organization for rare gynecological tumors has invaluable benefits, not only for patients, but also for epidemiological, clinical and biological research. © The Author 2017. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research.

Science.gov (United States)

McCormack, Pauline; Kole, Anna; Gainotti, Sabina; Mascalzoni, Deborah; Molster, Caron; Lochmüller, Hanns; Woods, Simon

2016-10-01

Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.

Dioctophymiasis: A Rare Case Report.

Science.gov (United States)

Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

2016-02-01

Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

Rare earths: occurrence, production and applications

International Nuclear Information System (INIS)

Murthy, T.K.S.; Mukherjee, T.K.

2002-01-01

The mining and processing of rare earth minerals, particularly of monazite, began in a modest way in 1880s for commercialized production of mantle for gas lighting. For all major applications up to mid-twentieth century- production of lighter flints, misch metal as a metallurgical alloying agent, colouring, decolourizing and polishing agents for glass, petroleum cracking catalysts and arc-carbons, unseparated or partially separated rare earths were adequate. These applications continue till today. With the development and industrial application of powerful techniques like ion exchange and solvent extraction for the separation of rare earths, the decades after 1960 saw increasing utilization of the specific properties of the individual rare earths. Some of these advanced technological applications include: special glass for optical systems including camera lenses, phosphors for colour television, cathode ray tubes and fluorescent lighting, X-ray intensification screens, high intensity permanent magnets, electro optical devices, lasers, hydrogen storage materials, hydride rechargeable batteries, photomagnetic data storage systems, autoexhaust catalysts, special ceramics of unusual toughness, artificial diamonds and nonpoisonous plastic colorants. The topics covered in the book include rare earths: their story identity, rare earth resources, processing of ores and recovery of mixed rare earths products, separation and purification of rare earths, nonmetallic applications of rare earths, rare earth metals: production and applications, rare earth alloys and their applications, analysis of rare earth, processing of rare earth resources in India by Indian Rare Earth Ltd. and availability and market conditions

Basaloid squamous carcinoma of skin associated with xeroderma pigmentosum in an 8-year-old child: A rare entity

Directory of Open Access Journals (Sweden)

Tashnin Rahman

2014-01-01

Full Text Available Xeroderma pigmentosum (XP is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet (UV light, due to defects in deoxyribonucleic acid (DNA repair. Basaloid squamous cell carcinoma is a rare aggressive variant of squamous cell carcinoma. Patients with XP are at increased risk of developing cutaneous malignancy and are commonly associated with squamous carcinoma. We report an extremely rare case of 8-year-old child with XP along with basaloidsquamous carcinoma of skin; and review of literature related to it.

A Novel Strategy for Detection and Enumeration of Circulating Rare Cell Populations in Metastatic Cancer Patients Using Automated Microfluidic Filtration and Multiplex Immunoassay.

Directory of Open Access Journals (Sweden)

Mark Jesus M Magbanua

Full Text Available Size selection via filtration offers an antigen-independent approach for the enrichment of rare cell populations in blood of cancer patients. We evaluated the performance of a novel approach for multiplex rare cell detection in blood samples from metastatic breast (n = 19 and lung cancer patients (n = 21, and healthy controls (n = 30 using an automated microfluidic filtration and multiplex immunoassay strategy. Captured cells were enumerated after sequential staining for specific markers to identify circulating tumor cells (CTCs, circulating mesenchymal cells (CMCs, putative circulating stem cells (CSCs, and circulating endothelial cells (CECs. Preclinical validation experiments using cancer cells spiked into healthy blood demonstrated high recovery rate (mean = 85% and reproducibility of the assay. In clinical studies, CTCs and CMCs were detected in 35% and 58% of cancer patients, respectively, and were largely absent from healthy controls (3%, p = 0.001. Mean levels of CTCs were significantly higher in breast than in lung cancer patients (p = 0.03. Fifty-three percent (53% of cancer patients harbored putative CSCs, while none were detectable in healthy controls (p<0.0001. In contrast, CECs were observed in both cancer and control groups. Direct comparison of CellSearch® vs. our microfluidic filter method revealed moderate correlation (R2 = 0.46, kappa = 0.47. Serial blood analysis in breast cancer patients demonstrated the feasibility of monitoring circulating rare cell populations over time. Simultaneous assessment of CTCs, CMCs, CSCs and CECs may provide new tools to study mechanisms of disease progression and treatment response/resistance.

A Novel Strategy for Detection and Enumeration of Circulating Rare Cell Populations in Metastatic Cancer Patients Using Automated Microfluidic Filtration and Multiplex Immunoassay.

Science.gov (United States)

Magbanua, Mark Jesus M; Pugia, Michael; Lee, Jin Sun; Jabon, Marc; Wang, Victoria; Gubens, Matthew; Marfurt, Karen; Pence, Julia; Sidhu, Harwinder; Uzgiris, Arejas; Rugo, Hope S; Park, John W

2015-01-01

Size selection via filtration offers an antigen-independent approach for the enrichment of rare cell populations in blood of cancer patients. We evaluated the performance of a novel approach for multiplex rare cell detection in blood samples from metastatic breast (n = 19) and lung cancer patients (n = 21), and healthy controls (n = 30) using an automated microfluidic filtration and multiplex immunoassay strategy. Captured cells were enumerated after sequential staining for specific markers to identify circulating tumor cells (CTCs), circulating mesenchymal cells (CMCs), putative circulating stem cells (CSCs), and circulating endothelial cells (CECs). Preclinical validation experiments using cancer cells spiked into healthy blood demonstrated high recovery rate (mean = 85%) and reproducibility of the assay. In clinical studies, CTCs and CMCs were detected in 35% and 58% of cancer patients, respectively, and were largely absent from healthy controls (3%, p = 0.001). Mean levels of CTCs were significantly higher in breast than in lung cancer patients (p = 0.03). Fifty-three percent (53%) of cancer patients harbored putative CSCs, while none were detectable in healthy controls (p<0.0001). In contrast, CECs were observed in both cancer and control groups. Direct comparison of CellSearch® vs. our microfluidic filter method revealed moderate correlation (R2 = 0.46, kappa = 0.47). Serial blood analysis in breast cancer patients demonstrated the feasibility of monitoring circulating rare cell populations over time. Simultaneous assessment of CTCs, CMCs, CSCs and CECs may provide new tools to study mechanisms of disease progression and treatment response/resistance.

Late-onset and rare far-advanced pulmonary involvement in patients with sarcoidosis in Taiwan.

Science.gov (United States)

Hsieh, Chia-Wei; Chen, Der-Yuan; Lan, Joung-Liang

2006-04-01

Sarcoidosis is still considered a rare multisystem disorder in Taiwan, and data on the disease course and outcome are limited. We analyzed the clinical manifestations, disease course and complications in Taiwanese patients with sarcoidosis. A retrospective cohort design was used. Fifty-six patients with sarcoidosis diagnosed between 1985 and 2004 were included. Their clinical features, laboratory findings at initial presentation, disease course, and complications were analyzed. Forty-three patients (76.8%) were female. The mean age at symptom onset was 47 years. The most common clinical symptoms were pulmonary (82.1%), cutaneous (23.2%), ophthalmic (19.6%), and articular (17.8%). Only two patients presented with Löfgren's syndrome. There was a seasonal variation in disease onset, with higher incidence in winter and early spring. No advanced pulmonary involvement was noted. Elevated levels of serum angiotensin converting enzyme (sACE) were found in 72.5% (29/40) of patients with active sarcoidosis, and significantly higher levels of sACE were found in patients with lung involvement (27.98+/-1.71 IU/L vs. 18.2+/-2.76 IU/L; psACE levels declined significantly in parallel with clinical remission (24.75+/-1.53 IU/L vs. 16.33+/-1.21 IU/L; psACE might be a marker of pulmonary involvement that is also useful in monitoring disease activity.

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Science.gov (United States)

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

The Rare Disease Bank of Japan: establishment, current status and future challenges.

Science.gov (United States)

Tada, Mayako; Hirata, Makoto; Sasaki, Mitsuho; Sakate, Ryuichi; Kohara, Arihiro; Takahashi, Ichiro; Kameoka, Yosuke; Masui, Toru; Matsuyama, Akifumi

2018-04-02

Research on rare diseases cannot be performed without appropriate samples from patients with such diseases. Due to the limited number of such patients, securing biosamples of sufficient quality for extensive research is a challenge and represents an important barrier to the advancement of research on rare diseases. To tackle this problem, the Rare Disease Bank (RDB) was established in 2009 at the National Institute of Biomedical Innovation (NIBIO; currently, the National Institutes of Biomedical Innovation, Health and Nutrition in Japan). Since then, the RDB has focused on three objectives: (1) emphasizing the importance of collecting biosamples from patients with rare diseases, together with appropriate clinical information, from various medical facilities nationwide; (2) maintaining strict high-quality sample management standards; and (3) sharing biosamples with research scientists across Japan for the advancement of research on rare diseases. As of August 2017, the bank has collected 4147 biosamples from patients with rare diseases, including DNA, serum, plasma, and cell samples from various university hospitals and other medical institutions across the country, and provided various research institutions with 13,686 biosample aliquots from 2850 cases. In addition, the management committee has successfully established a bank system that provides high-quality biosamples together with the results of human leukocyte antigen analysis. It is anticipated that the RDB, through the collection and sharing of biosamples with the medical research community, will enhance the understanding, prevention, and treatment of rare diseases in Japan and the world at large.

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.

Science.gov (United States)

Guffroy, Aurélien; Mourot-Cottet, Rachel; Gérard, Laurence; Gies, Vincent; Lagresle, Chantal; Pouliet, Aurore; Nitschké, Patrick; Hanein, Sylvain; Bienvenu, Boris; Chanet, Valérie; Donadieu, Jean; Gardembas, Martine; Karmochkine, Marina; Nove-Josserand, Raphaele; Martin, Thierry; Poindron, Vincent; Soulas-Sprauel, Pauline; Rieux-Laucat, Fréderic; Fieschi, Claire; Oksenhendler, Eric; André-Schmutz, Isabelle; Korganow, Anne-Sophie

2017-10-01

Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID. The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed. Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*10 6 /L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31.3 vs 3.4%, P < 0.05). Neutropenia was diagnosed for 10 patients before 22 years old. The most frequent symptoms, except infections, were autoimmune cytopenia, i.e., thrombopenia or anemia (11/16). Ten patients were affected with lymphoproliferative diseases. Two patients were in the infection only group and the others belonged to one or several other CVID groups. The median level of IgG was 2.6 g/L [0.35-4.4]. Most patients presented increased numbers of CD21 low CD38 low B cell, as already described in CVID autoimmune cytopenia group. Neutropenia was considered autoimmune in 11 cases. NGS for 52 genes of interest was performed on 8 patients. No deleterious mutations were found in LRBA, CTLA4, and PIK3. More than one potentially damaging variant in other genes associated with CVID were present in most patients arguing for a multigene process. Neutropenia is generally associated with another cytopenia and presumably of autoimmune origin during CVID. In the DEFI study, neutropenia is coupled with more severe clinical outcomes. It appears as an "alarm bell" considering patients' presentation and the high rate of deaths. Whole exome sequencing diagnosis should improve management.

Harmonising phenomics information for a better interoperability in the rare disease field.

Science.gov (United States)

Maiella, Sylvie; Olry, Annie; Hanauer, Marc; Lanneau, Valérie; Lourghi, Halima; Donadille, Bruno; Rodwell, Charlotte; Köhler, Sebastian; Seelow, Dominik; Jupp, Simon; Parkinson, Helen; Groza, Tudor; Brudno, Michael; Robinson, Peter N; Rath, Ana

2018-02-07

HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project builds on three resources largely adopted by the rare disease (RD) community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) as well as PhenoTips software for the capture and sharing of structured phenotypic data for RD patients. Our project is further supported by resources developed by the European Bioinformatics Institute and the Garvan Institute. HIPBI-RD aims to provide the community with an integrated, RD-specific bioinformatics ecosystem that will harmonise the way phenomics information is stored in databases and patient files worldwide, and thereby contribute to interoperability. This ecosystem will consist of a suite of tools and ontologies, optimized to work together, and made available through commonly used software repositories. The project workplan follows three main objectives: The HIPBI-RD ecosystem will contribute to the interpretation of variants identified through exome and full genome sequencing by harmonising the way phenotypic information is collected, thus improving diagnostics and delineation of RD. The ultimate goal of HIPBI-RD is to provide a resource that will contribute to bridging genome-scale biology and a disease-centered view on human pathobiology. Achievements in Year 1. Copyright © 2018. Published by Elsevier Masson SAS.

Lingual fibrolipoma – a rare clinicopathological entity | Mungul ...

African Journals Online (AJOL)

Lipoma is a relatively common benign tumour occurring at sites of the body which are rich in adipose tissue. Due to sparsity of adipose tissue within the oral cavity, lipoma rarely presents in this region. Fibrolipoma of the tongue is a rare lesion. There are only 14 cases reported in the literature. An 85-year-old patient ...

[Rare cause for severe hypertriglyceridemia - case 9/2013].

Science.gov (United States)

Kahl, Sabine; Roden, Michael; Mörike, Klaus; Müssig, Karsten

2013-11-01

We report on a 48-year-old female patient with recently developed severe hypertriglyceridemia. Medical history was remarkable for breast cancer with breast-preserving surgery and chemoradiotherapy. The patient has been treated with 20 mg tamoxifen per day for three months. Laboratory results showed hypertriglyeridemia, hypercholesterolemia and lowered HDL-cholesterol. Findings were consistent with a drug-induced hypertriglyceridemia caused by anti-estrogenic therapy with tamoxifen. After consulting the patient's gynaecologist, we discontinued tamoxifen treatment. Thereupon, triglyceride levels fell consistently. There were no signs of pancreatitis, serum amylase and lipase were in the normal range. Patients with pre-diagnosed metabolic disorders, especially dyslipidemia and type 2 diabetes, should undergo regular controls of serum triglycerides during tamoxifen treatment. Also, one should keep in mind that a subacute, severe rise in serum triglyceride levels may be caused, in rare cases, by tamoxifen treatment. © Georg Thieme Verlag KG Stuttgart · New York.

Contribution of Electronic Medical Records to the Management of Rare Diseases.

Science.gov (United States)

Bremond-Gignac, Dominique; Lewandowski, Elisabeth; Copin, Henri

2015-01-01

Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR. Ophthalmology-specific EMR software (Softalmo software Corilus) was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center. A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research. Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease.

Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany.

Science.gov (United States)

Babac, Ana; Frank, Martin; Pauer, Frédéric; Litzkendorf, Svenja; Rosenfeldt, Daniel; Lührs, Verena; Biehl, Lisa; Hartz, Tobias; Storf, Holger; Schauer, Franziska; Wagner, Thomas O F; Graf von der Schulenburg, J-Matthias

2018-02-09

Rare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of life. Approximately 350 million people worldwide live with rare diseases. The resulting high disease burden triggers health information search, but helpful, high-quality, and up-to-date information is often hard to find. Therefore, the improvement of health information provision has been integrated in many national plans for rare diseases, discussing the telephone as one access option. In this context, this study examines the need for a telephone service offering information for people affected by rare diseases, their relatives, and physicians. In total, 107 individuals participated in a qualitative interview study conducted in Germany. Sixty-eight individuals suffering from a rare disease or related to somebody with rare diseases and 39 health care professionals took part. Individual interviews were conducted using a standardized semi-structured questionnaire. Interviews were analysed using the qualitative content analysis, triangulating patients, relatives, and health care professionals. The fulfilment of qualitative data processing standards has been controlled for. Out of 68 patients and relatives and 39 physicians, 52 and 18, respectively, advocated for the establishment of a rare diseases telephone service. Interviewees expected a helpline to include expert staffing, personal contact, good availability, low technical barriers, medical and psychosocial topics of counselling, guidance in reducing information chaos, and referrals. Health care professionals highlighted the importance of medical topics of counselling-in particular, differential diagnostics-and referrals. Therefore, the need for a national rare diseases helpline was confirmed in this study. Due to limited financial resources, existing offers should be adapted in a stepwise procedure in accordance with the identified attributes.

Rare Complications of Cervical Spine Surgery: Pseudomeningocoele.

Science.gov (United States)

Ailon, Tamir; Smith, Justin S; Nassr, Ahmad; Smith, Zachary A; Hsu, Wellington K; Fehlings, Michael G; Fish, David E; Wang, Jeffrey C; Hilibrand, Alan S; Mummaneni, Praveen V; Chou, Dean; Sasso, Rick C; Traynelis, Vincent C; Arnold, Paul M; Mroz, Thomas E; Buser, Zorica; Lord, Elizabeth L; Massicotte, Eric M; Sebastian, Arjun S; Than, Khoi D; Steinmetz, Michael P; Smith, Gabriel A; Pace, Jonathan; Corriveau, Mark; Lee, Sungho; Riew, K Daniel; Shaffrey, Christopher

2017-04-01

This study was a retrospective, multicenter cohort study. Rare complications of cervical spine surgery are inherently difficult to investigate. Pseudomeningocoele (PMC), an abnormal collection of cerebrospinal fluid that communicates with the subarachnoid space, is one such complication. In order to evaluate and better understand the incidence, presentation, treatment, and outcome of PMC following cervical spine surgery, we conducted a multicenter study to pool our collective experience. This study was a retrospective, multicenter cohort study of patients who underwent cervical spine surgery at any level(s) from C2 to C7, inclusive; were over 18 years of age; and experienced a postoperative PMC. Thirteen patients (0.08%) developed a postoperative PMC, 6 (46.2%) of whom were female. They had an average age of 48.2 years and stayed in hospital a mean of 11.2 days. Three patients were current smokers, 3 previous smokers, 5 had never smoked, and 2 had unknown smoking status. The majority, 10 (76.9%), were associated with posterior surgery, whereas 3 (23.1%) occurred after an anterior procedure. Myelopathy was the most common indication for operations that were complicated by PMC (46%). Seven patients (53%) required a surgical procedure to address the PMC, whereas the remaining 6 were treated conservatively. All PMCs ultimately resolved or were successfully treated with no residual effects. PMC is a rare complication of cervical surgery with an incidence of less than 0.1%. They prolong hospital stay. PMCs occurred more frequently in association with posterior approaches. Approximately half of PMCs required surgery and all ultimately resolved without residual neurologic or other long-term effects.

Cystic fibroadenoma: report of a rare case with review of literature.

Science.gov (United States)

Bhat, Amoolya; Vijaya, C; Gowda, V S Shankare

2015-01-01

Fibroadenomas with a predominant cystic change are called cystic fibroadenomas. These are extremely rare forms of fibroadenomas and only one case has been reported so far. They are classified under the category of complex fibroadenomas. Complex fibroadenomas are a rare variant of fibroadenomas occurring in elderly females. They are characterized by presence of one of the complex features along with the usual patterns of fibroadenoma such as cysts more than 3 mm, papillary apocrine metaplasia, or sclerosing adenosis. Patients with these lesions have higher chances of developing carcinoma of breast. We present a case of 35 years old lady with a freely mobile mass in the left breast diagnosed as cystic fibroadenoma after thorough histopathological examination of the lesion.

Crowdfunding drug development: the state of play in oncology and rare diseases.

Science.gov (United States)

Dragojlovic, Nick; Lynd, Larry D

2014-11-01

In this article, we present descriptive data on 125 crowdfunding campaigns aimed at financing research in oncology (including basic research, drug discovery, and clinical trials). We also describe five campaigns that have succeeded in raising substantial funds to support the development of treatments for ultrarare diseases. The data suggest that crowdfunding is a viable approach to supporting early proof-of-concept research that could allow researchers in oncology and rare diseases to succeed in traditional grant competitions or to attract private investment. The data also suggest that such an approach could become a valuable additional source of funding for early-stage innovators in the drug development arena. Copyright © 2014 Elsevier Ltd. All rights reserved.

A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome.

Science.gov (United States)

Sousa, David Cordeiro; Leal, Inês; Faria, Mun Yueh; Pinto, Luís Abegão

2016-01-01

To report a case of a patient who developed uveitis-glaucoma-hyphema (UGH) syndrome after an uneventful cataract surgery and to discuss risk factors, diagnostic challenges, management options, and clinical implications. Uveitis-glaucoma-hyphema syndrome is a rare but potentially serious cataract surgery complication. Clinical manifestations include increased intraocular pressure (IOP), anterior chamber inflammation, and recurrent hyphema or microhyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber intraocular lenses (lOLs), cases of malpositioning and subluxated posterior chamber lOLs have also been described as possible triggers. We report a case of a 70-year-old Caucasian man who developed UGH Plus syndrome after an uneventful cataract surgery with an lOL implanted in the capsular bag. During postoperative follow-up, persistent intraocular inflammation, increased IOP, hyphema, and vitreous hemorrhage were consistent with this diagnosis. Slit-lamp examination demonstrated progressive localized iris atrophy, compatible with chafing of the posterior iris by the IOL haptic as the trigger for UGH syndrome. A pars plana vitrectomy was performed and a retropupillary intraocular lens was implanted. No further complications occurred during follow-up. Given the increasing prevalence of single-piece lOLs implanted in the capsular bag, it is important to recognize UGH syndrome as a rare but potentially serious complication. How to cite this article: Sousa DC, Leal I, Faria MY, Pinto LA. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome. J Curr Glaucoma Pract 2016;10(2):76-78.

Unraveling Recrystallization Mechanisms Governing Texture Development from Rare Earth Element Additions to Magnesium

Science.gov (United States)

Imandoust, Aidin

The origin of texture components associated with rare-earth (RE) element additions in wrought magnesium (Mg) alloys is a long-standing problem in magnesium technology. The objective of this research is to identify the mechanisms accountable for rare-earth texture during dynamic recrystallization (DRX). Towards this end, we designed binary Mg-Cerium and Mg-Gadolinium alloys along with complex alloy compositions containing zinc, yttrium and Mischmetal. Binary alloys along with pure Mg were designed to individually investigate their effects on texture evolutions, while complex compositions are designed to develop randomized texture, and be used in automotive and aerospace applications. We selected indirect extrusion to thermo-mechanically process our materials. Different extrusion ratios and speeds were designed to produce partially and fully recrystallized microstructures, allowing us to analyze DRX from its early stages to completion. X-ray diffraction, electron backscattered diffraction (EBSD) and transmission electron microscopy (TEM) were used to conduct microstructure and texture analyses. Our analyses revealed that rare-earth elements in zinc-containing magnesium alloys promote discontinuous dynamic recrystallization at the grain boundaries. During nucleation, the effect of rare earth elements on orientation selection was explained by the concomitant actions of multiple Taylor axes in the same grain. Isotropic grain growth was observed due to rare earth elements segregating to grain boundaries, which lead to texture randomization. The nucleation in binary Mg-RE alloys took place by continuous formation of necklace structures. Stochastic relaxation of basal and non-basal dislocations into low-angle grain boundaries produced chains of embryos with nearly random orientations. Schmid factor analysis showed a lower net activation of dislocations in RE textured grains compared to ones on the other side of the stereographic triangle. Lower dislocation densities within

[SZCZECIN CITIZENS' KNOWLEDGE ABOUT RARE DISEASES].

Science.gov (United States)

Walat, Anna; Skoczylas, Michal Marian; Welnicka, Agnieszka; Kulig, Malgorzata; Rodak, Przemyslaw; Walczak, Zuzanna; Jablońska, Agata

2014-01-01

The aim of the study was to assess knowledge about rare diseases among citizens of Szczecin (Poland). The study was performed by questioning 242 adult customers of Turzyn Shopping Centre in Szczecin (149 females and 93 males). The survey was conducted in the shopping mall on 23 February 2013 (control group) and during the celebration of Rare Disease Day and the 12th Polish Nationwide Cystic Fibrosis Week ("Dolina Mukolinków") on 2 March 2013 (research group). The research tool was a questionnaire devised by the authors and filled out by the writing authors interviewer's answers. In the study group more people knew about the existence of Rare Disease Day than in the control group (86.02% vs 57.72%, chi-square test χ2 > χ2(1); 0.001, p χ2(1); 0.001, p < 0.001). The respondents from the research group knew more about Rare Disease Day and defined the idea of it as closed in a significantly higher degree than the control group. There was no significant difference in the detailed knowledge about rare diseases in either group. This might indicate the need to educate society and patients, along with their families.

Technical developments for an upgrade of the LEBIT Penning trap mass spectrometry facility for rare isotopes

Science.gov (United States)

Redshaw, M.; Barquest, B. R.; Bollen, G.; Bustabad, S. E.; Campbell, C. M.; Ferrer, R.; Gehring, A.; Kwiatkowski, A. A.; Lincoln, D. L.; Morrissey, D. J.; Pang, G. K.; Ringle, R.; Schwarz, S.

2011-07-01

The LEBIT (Low Energy Beam and Ion Trap) facility is the only Penning trap mass spectrometry (PTMS) facility to utilize rare isotopes produced via fast-beam fragmentation. This technique allows access to practically all elements lighter than uranium, and in particular enables the production of isotopes that are not available or that are difficult to obtain at isotope separation on-line facilities. The preparation of the high-energy rare-isotope beam produced by projectile fragmentation for low-energy PTMS experiments is achieved by gas stopping to slow down and thermalize the fast-beam ions, along with an rf quadrupole cooler and buncher and rf quadrupole ion guides to deliver the beam to the Penning trap. During its first phase of operation LEBIT has been very successful, and new developments are now underway to access rare isotopes even farther from stability, which requires dealing with extremely short lifetimes and low production rates. These developments aim at increasing delivery efficiency, minimizing delivery and measurement time, and maximizing use of available beam time. They include an upgrade to the gas-stopping station, active magnetic field monitoring and stabilization by employing a miniature Penning trap as a magnetometer, the use of stored waveform inverse Fourier transform (SWIFT) to most effectively remove unwanted ions, and charge breeding.

Technical developments for an upgrade of the LEBIT Penning trap mass spectrometry facility for rare isotopes

International Nuclear Information System (INIS)

Redshaw, M.; Barquest, B. R.; Bollen, G.; Bustabad, S. E.; Campbell, C. M.; Ferrer, R.; Gehring, A.; Kwiatkowski, A. A.; Lincoln, D. L.; Morrissey, D. J.; Pang, G. K.; Ringle, R.; Schwarz, S.

2011-01-01

The LEBIT (Low Energy Beam and Ion Trap) facility is the only Penning trap mass spectrometry (PTMS) facility to utilize rare isotopes produced via fast-beam fragmentation. This technique allows access to practically all elements lighter than uranium, and in particular enables the production of isotopes that are not available or that are difficult to obtain at isotope separation on-line facilities. The preparation of the high-energy rare-isotope beam produced by projectile fragmentation for low-energy PTMS experiments is achieved by gas stopping to slow down and thermalize the fast-beam ions, along with an rf quadrupole cooler and buncher and rf quadrupole ion guides to deliver the beam to the Penning trap. During its first phase of operation LEBIT has been very successful, and new developments are now underway to access rare isotopes even farther from stability, which requires dealing with extremely short lifetimes and low production rates. These developments aim at increasing delivery efficiency, minimizing delivery and measurement time, and maximizing use of available beam time. They include an upgrade to the gas-stopping station, active magnetic field monitoring and stabilization by employing a miniature Penning trap as a magnetometer, the use of stored waveform inverse Fourier transform (SWIFT) to most effectively remove unwanted ions, and charge breeding.

Echocardiographic diagnosis of rare pathological patterns of sinus of Valsalva aneurysm.

Directory of Open Access Journals (Sweden)

Yali Yang

Full Text Available To evaluate the value and improve the diagnostic accuracy of echocardiography in the diagnosis of a sinus of Valsalva aneurysm (SVA with rare pathological patterns.Echocardiographic features and surgical findings from 270 Chinese patients with SVA treated in the last 18 years (1995-2013 at the Union Hospital were compared retrospectively; 22 of 270 cases had rare patterns.The patients with SVA, a rare origin, a rare extending position, or a rare course accounted for 3.4%, 7.4%, and 0.4% of the 270 cases, respectively. The three most common aneurysmal complications of the patients with rare patterns were severe aortic regurgitation (16, obstruction of the ventricular outflow tract or valvular orifice (3, and conduction disturbance (3. The origin, course, extending position and rupture status of the SVAs determined by echocardiography were entirely consistent with surgical findings in 81.8% of the 22 cases. With the exception of one failed diagnosis of an aneurysmal wall dissection and one misdiagnosis of a descending aortic dissection, the echocardiographic results of SVA complications and associated cardiovascular lesions were also confirmed.We could accurately diagnose SVAs with rare pathological patterns by echocardiographic identification of distinguishing features. However, for several conditions, we could not accurately identify the origin or course of the aneurysm or define its relationship to adjacent structures using conventional echocardiography alone. Therefore, we recommend combining conventional echocardiography with different imaging techniques, such as transesophageal echocardiography, three-dimensional echocardiography, computed tomography angiography, and aortic angiography.

Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.

Science.gov (United States)

Alreheili, Khalid; AlMehaidib, Ali; Alsaleem, Khalid; Banemi, Mohammad; Aldekhail, Wajeeh; Al-Mayouf, Sulaiman M

2012-01-01

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

Rare earth metals, rare earth hydrides, and rare earth oxides as thin films

International Nuclear Information System (INIS)

Gasgnier, M.

1980-01-01

The review deals with pure rare earth materials such as rare earth metals, rare earth hydrides, and rare earth oxides as thin films. Several preparation techniques, control methods, and nature of possible contaminations of thin films are described. These films can now be produced in an extremely well-known state concerning chemical composition, structure and texture. Structural, electric, magnetic, and optical properties of thin films are studied and discussed in comparison with the bulk state. The greatest contamination of metallic rare earth thin films is caused by reaction with hydrogen or with water vapour. The compound with an f.c.c. structure is the dihydride LnH 2 (Ln = lanthanides). The oxygen contamination takes place after annealing at higher temperatures. Then there appears a compound with a b.c.c. structure which is the C-type sesquioxide C-Ln 2 O 3 . At room atmosphere dihydride light rare earth thin films are converted to hydroxide Ln(OH) 3 . For heavy rare earth thin films the oxinitride LnNsub(x)Osub(y) is observed. The LnO-type compound was never seen. The present review tries to set the stage anew for the investigations to be undertaken in the future especially through the new generations of electron microscopes

Mucormycosis: a rare fungal infection in tornado victims.

Science.gov (United States)

Austin, Cindy L; Finley, Phillip J; Mikkelson, Debbie R; Tibbs, Brian

2014-01-01

This article reviews four immunocompetent patients who developed a rare fungal infection, mucormycosis, secondary to multiple traumatic injuries sustained during an EF-5 tornado in Joplin, MO. Commonly found in soil and decaying organic matter, mucorales are fungi associated with soft tissue and cutaneous infections. Onset of this fungal infection can occur without clinical signs, presenting several days to several weeks after injury, delaying diagnosis. A multidisciplinary treatment approach including aggressive antifungal therapy and aggressive surgical debridement is critical. This diagnosis should be considered in all patients presenting with injuries sustained from high-velocity embedment of debris such as natural disasters or explosions. We present four cases of mucormycosis, species Apophysomyces trapeziformis. Data reported includes predisposing factors, number of days between injury and diagnosis of mucormycosis, surgical treatment, antifungal therapy, outcomes, and potential risk factors that may have contributed to the development of mucormycosis.

Rare Complications of Cervical Spine Surgery: Horner's Syndrome.

Science.gov (United States)

Traynelis, Vincent C; Malone, Hani R; Smith, Zachary A; Hsu, Wellington K; Kanter, Adam S; Qureshi, Sheeraz A; Cho, Samuel K; Baird, Evan O; Isaacs, Robert E; Rahman, Ra'Kerry K; Polevaya, Galina; Smith, Justin S; Shaffrey, Christopher; Tortolani, P Justin; Stroh, D Alex; Arnold, Paul M; Fehlings, Michael G; Mroz, Thomas E; Riew, K Daniel

2017-04-01

A multicenter retrospective case series. Horner's syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner's syndrome, a multicenter study was performed to review a large collective experience with this rare complication. We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network. Medical records for 17 625 patients who received subaxial cervical spine surgery from 2005 to 2011 were reviewed to identify occurrence of 21 predefined treatment complications. Descriptive statistics were provided for baseline patient characteristics. Paired t test was used to analyze changes in clinical outcomes at follow-up compared to preoperative status. In total, 8887 patients who underwent anterior cervical spine surgery at the participating institutions were screened. Postoperative Horner's syndrome was identified in 5 (0.06%) patients. All patients experienced the complication following anterior cervical discectomy and fusion. The sympathetic trunk appeared to be more vulnerable when operating on midcervical levels (C5, C6), and most patients experienced at least a partial recovery without further treatment. This collective experience suggests that Horner's syndrome is an exceedingly rare complication following anterior cervical spine surgery. Injury to the sympathetic trunk may be limited by maintaining a midline surgical trajectory when possible, and performing careful dissection and retraction of the longus colli muscle when lateral exposure is necessary, especially at caudal cervical levels.

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

Science.gov (United States)

Bax, Nathalie M.; Fakin, Ana; Groenewoud, Joannes M. M.; Klevering, B. Jeroen; Moore, Anthony T.; Michaelides, Michel; Webster, Andrew R.; van der Wilt, Gert Jan; Hoyng, Carel B.

2017-01-01

Background Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options—including gene therapy—are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date) and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including variable rates of functional and structural progression, thereby potentially limiting the ability of phase I/II clinical trials to assess efficacy of novel therapies with few patients. To accommodate this problem, we developed and validated a sensitive and reliable composite clinical trial endpoint for disease progression based on structural measurements of retinal degeneration. Methods and findings We used longitudinal data from early-onset Stargardt patients from the Netherlands (development cohort, n = 14) and the United Kingdom (external validation cohort, n = 18). The composite endpoint was derived from best-corrected visual acuity, fundus autofluorescence, and spectral-domain optical coherence tomography. Weighting optimization techniques excluded visual acuity from the composite endpoint. After optimization, the endpoint outperformed each univariable outcome, and showed an average progression of 0.41° retinal eccentricity per year (95% confidence interval, 0.30–0.52). Comparing with actual longitudinal values, the model accurately predicted progression (R2, 0.904). These properties were largely preserved in the validation cohort (0.43°/year [0.33–0.53]; prediction: R2, 0.872). We subsequently ran a two-year trial simulation with the composite endpoint, which detected a 25% decrease in disease progression with 80% statistical power using only 14 patients. Conclusions These results suggest that a multimodal endpoint, reflecting structural macular changes, provides a

Eventration of diaphragm with a rare association

Directory of Open Access Journals (Sweden)

Syed Shafiq

2014-01-01

Full Text Available Eventration of the diaphragm is a rare anomaly of unknown origin characterized by a permanent high position of one or rarely both the leaflets of the diaphragm, providing a potential space for the displacement of abdominal viscera on the affected side(s. The etiology, diagnosis, and management of this condition remains a controversial subject. We report a rare case of infiltrating squamous cell carcinoma of the esophagus in a patient with eventration of the diaphragm and gastric volvulus who presented to us with retrosternal discomfort. To the best of our knowledge, this rare association has not been reported in the literature, although one case of esophageal adenocarcinoma arising from Barrett′s esophagus in association with eventration of the diaphragm has been reported previously. This case again emphasis the varied associations of an eventration of the diaphragm.

Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report.

Science.gov (United States)

Benjamin, Katy; Vernon, Margaret K; Patrick, Donald L; Perfetto, Eleanor; Nestler-Parr, Sandra; Burke, Laurie

Rare diseases (RDs) affect a small number of people within a population. About 5000 to 8000 distinct RDs have been identified, with an estimated 6% to 8% of people worldwide suffering from an RD. Approximately 75% of RDs affect children. Frequently, these conditions are heterogeneous; many are progressive. Regulatory incentives have increased orphan drug designations and approvals. To develop emerging good practices for RD outcomes research addressing the challenges inherent in identifying, selecting, developing, adapting, and implementing patient-reported outcome (PRO) and observer-reported outcome (ObsRO) assessments for use in RD clinical trials. This report outlines the challenges and potential solutions in determining clinical outcomes for RD trials. It follows the US Food and Drug Administration Roadmap to Patient-Focused Outcome Measurement in Clinical Trials. The Roadmap consists of three columns: 1) Understanding the Disease or Condition, 2) Conceptualizing Treatment Benefit, and 3) Selecting/Developing the Outcome Measure. Challenges in column 1 include factors such as incomplete natural history data and heterogeneity of disease presentation and patient experience. Solutions include using several information sources, for example, clinical experts and patient advocacy groups, to construct the condition's natural history and understand treatment patterns. Challenges in column 2 include understanding and measuring treatment benefit from the patient's perspective, especially given challenges in defining the context of use such as variations in age or disease severity/progression. Solutions include focusing on common symptoms across patient subgroups, identifying short-term outcomes, and using multiple types of COA instruments to measure the same constructs. Challenges in column 3 center around the small patient population and heterogeneity of the condition or study sample. Few disease-specific instruments for RDs exist. Strategies include adapting existing

Development of separation process of Dy, Y, Tm and Yb from heavier rare earth residue by solvent impregnated resin

International Nuclear Information System (INIS)

Shibata, J.; Matsumoto, S.

1998-01-01

Full text: Heavier rare earth which is contained in a small amount in ores such as bastnesite and monazite has been accumulated as heavier rare earth residue without doing separation and purification due to lack of suitable methods. The heavier rare earth residue includes seven rare earth elements such as Tb, Dy, Ho, Y, Er, Tm and Yb. Separation and recovery process of Dy, Y, Tm and Yb from leached solution of the heavier rare earth residue was investigated by using a column method with a solvent impregnated resin. The solvent impregnated resin was prepared by impregnation of organophosphorous extractant whose trade name is PC-88A into a macro porous resin, Amberlite XAD-7. It was almost impossible to separate them in simple adsorption and elution steps. However, we attained to individually separate Dy, Y, Tm and Yb from the leached solution first by changing eluent concentration gradually from pH 2 to 2mol/ l HCl in the elution step, and secondly by using a development column and changing eluent concentration in the elution step. The separation process flow was proposed for heavier rare earth residue by using the solvent impregnated resin method

Linezolid induced black hairy tongue: a rare side effect.

Science.gov (United States)

Aijazi, Ishma; Abdulla, Fadhil M

2014-01-01

Linezolid induced black hairy tongue is a rare benign reversible side effect of linezolid therapy. We report a case of a 61 year old diabetic lady who developed thrombocytopenia and black hairy discoloration of the tongue after being prescribed linezolid for foot osteomyelitis by the orthopaedic surgeon. Patient was encouraged to practice good oral dental hygiene, advised to use a soft tooth brush, regular mouth wash and baking soda containing tooth paste. The condition resolved four weeks after cessation of the antibiotic therapy.

A Rare Case: Appendectomy After Connected Stump Appendicitis Perforation of the Cecum

Directory of Open Access Journals (Sweden)

Berke Manoglu

2016-01-01

Full Text Available Stump appendicitis is a rare complication after appendectomy . Stump appendicitis made of incomplete appendectomy after a rest appendix tissue develops as a result of the inflammation. Admitted to the emergency department with acute abdomen and a history of appendectomy in patients with a history of current pain in the right lower quadrant , especially that of the patient must be evaluated in terms of stump appendicitis. The fact that the earlier story appendectomy patients , causing a delay in diagnosis and increasing the morbidity Cecal perforation was offered an advanced case of delayed depending on the stump appendicitis in this article.

PatientVOICE: Development of a Preparatory, Pre-Chemotherapy Online Communication Tool for Older Patients With Cancer.

Science.gov (United States)

van Dulmen, Sandra; Driesenaar, Jeanine A; van Weert, Julia Cm; van Osch, Mara; Noordman, Janneke

2017-05-10

Good communication around cancer treatment is essential in helping patients cope with their disease and related care, especially when this information is tailored to one's needs. Despite its importance, communication is often complex, in particular in older patients (aged 65 years or older). In addition to the age-related deterioration in information and memory processing older patients experience, communication is also complicated by their required yet often unmet role of being an active, participatory patient. Older patients rarely express their informational needs and their contributions to consultations are often limited. Therefore, older patients with cancer need to be prepared to participate more actively in their care and treatment. The objective of this paper was to report the development of PatientVOICE, an online, preparatory tool with audio facility aimed to enhance the participation of older patients during educational nursing encounters preceding chemotherapy and to improve their information recall. PatientVOICE was developed by applying the following 6 steps of the intervention mapping framework that involved both patients and nurses: (1) needs assessment, (2) specifying determinants and change objectives, (3) reviewing and selecting theoretical methods and practical strategies, (4) developing intervention components, (5) designing adoption and implementation, and (6) making an evaluation plan. A careful execution of these consecutive steps resulted in the ready-to-use preparatory website. PatientVOICE provides pre-visit information about chemotherapy (ie, medical information, side effects, and recommendations of dealing with side effects), information about the educational nursing visit preceding chemotherapy (ie, aim, structure, and recommendations for preparation), techniques to improve patients' communication skills using a question prompt sheet (QPS) and video-modeling examples showing "best practices", and the opportunity to upload and listen

Diagnosis and Management of a Patient with Congenitally Missing Maxillary First Permanent Molars: A Rare Case Report

Directory of Open Access Journals (Sweden)

Megha Gupta

2016-01-01

Full Text Available Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We hereby report a case of nonsyndromic bilateral congenitally missing maxillary first permanent molar in an eight-year-old Saudi female patient. Comprehensive oral rehabilitation was done for the patient. The implications of the tooth agenesis are also discussed. The prognosis of this case is presented.

Cardiofaciocutaneous syndrome: A rare entity

Directory of Open Access Journals (Sweden)

S Pavithra

2012-01-01

Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

Towards a framework for personalized healthcare: lessons learned from the field of rare diseases.

Science.gov (United States)

Tambuyzer, Erik

2010-09-01

A large percentage of medicines do not work for the patient populations they are intended to treat. Increased knowledge regarding genomics and the underlying biological mechanism of diseases should help us be able to stratify patients into groups of likely responders and nonresponders, and to identify those patients for whom a treatment might do more harm than good. This article sets out different policy perspectives for the healthcare systems, and draws in on 25 years of particular experience from the rare disease and orphan drug field, to illuminate the pathway forward in relation to key implementation aspects of personalized healthcare. In principle, we submit that targeting medicines to preidentified groups for whom we can predict a beneficial outcome is a good thing for everyone - first of all for the patients, but also for all the other stakeholders, including payers, treating physicians and industry - because it has the potential to create sustainable and functioning healthcare systems directed to better health and prevention of disease. Personalized healthcare over time could also lead to shorter drug-development times because of lower rates of failure in late-stage drug development. Using orphan medicines to treat well-diagnosed patients suffering from a life-threatening or seriously debilitating rare disease, is an attempt to work according to these principles. As there is much that needs to be done to turn the promise into reality, we need to identify the barriers and challenges to transform the potential opportunities into real-life benefits, and what needs to be done in order to overcome them. Learning from the field of rare diseases and orphan drugs may provide, perhaps unexpectedly, some of the answers to public policy questions related to future (personalized) healthcare, but of course not all aspects, are common between the two fields.

A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma

Directory of Open Access Journals (Sweden)

Elvan Caglar Citak

Full Text Available Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

[Anorectal pain in children: rare or rarely recognised?].

Science.gov (United States)

Sonneveld, Laura J H; Engelberts, Adèle C; van den Elzen, Annette P M

2016-01-01

Anorectal pain is a common symptom, often as part of functional gastrointestinal disorders. Children seldom present with this complaint. Proctalgia fugax and chronic proctalgia are both anorectal pain syndromes but differ in duration and frequency of episodes and in pain characteristics. No research has been conducted on anorectal pain syndromes in children. We present two patients. Firstly, an 8-year-old girl who suffered from anorectal cramps. We found no underlying cause apart from constipation. The symptoms disappeared spontaneously. The second concerned an 8-year-old boy who presented with recurrent anorectal cramps. He was diagnosed with celiac disease. Anorectal dysfunction and visceral hypersensitivity have been described in adult celiac patients. Symptoms of anorectal pain in children are rare probably because it often remains unrecognised. Noninvasive diagnostic methods and interventions are preferred in paediatric medicine. Screening for celiac disease in children with anorectal pain episodes should be considered.

ESBL Escherichia coli Ventriculitis after Aneurysm Clipping: A Rare and Difficult Therapeutic Challenge

Directory of Open Access Journals (Sweden)

F. A. Zeiler

2015-01-01

Full Text Available Background. Extended spectrum beta-lactamase (ESBL produced Escherichia coli (E. coli ventriculitis is a rare infection of the central nervous system, with increasing rarity in the adult population. The therapeutic strategy to achieve cure may need to involve a combination of intraventricular and intravenous (IV therapy. Objective. To describe a case of ESBL E. coli meningitis/ventriculitis in an adult and outline the antimicrobial therapy that leads to cure. Methods. We retrospectively reviewed the records of a patient admitted to the neurosurgical department for aneurysmal subarachnoid hemorrhage, who developed ESBL E. coli ventriculitis. Results. A 55-year-old female, admitted for a Fisher grade 3, World Federation of Neurological Surgeons grade 1, subarachnoid hemorrhage, developed ESBL E. coli ventriculitis requiring a combination of intraventricular gentamicin and high dose intravenous meropenem for clearance. Cerebrospinal fluid clearance occurred at 7 days after initiation of combined therapy. The patient remained shunt dependent. Conclusions. Meningitis and ventriculitis caused by ESBL E. coli species are rare and pose significant challenges to the treating physician. Early consideration for combined intraventricular and IV therapy should be made.

Scapulothoracic Dissociation: A Rare Variant: A Case Report

Directory of Open Access Journals (Sweden)

Rajat Jangir

2014-07-01

Full Text Available Scapulothoracic dissociation is a rare injury involving separation of scapula from the thorax along with the upper extremity. Majority of the patients have concomitant neurovascular injury and the prognosis is uniformly poor in such cases. We present a case of scapulothoracic dissociation with comminuted fracture of scapula and acromioclavicular joint disruption without neurovascular deficit. There were associated avulsion fractures of the spinous processes of vertebrae (T3-T5. Such presentation is rare in an already rare scapulothoracic dissociation injury. A discussion regarding the probable mechanism of injury, management and prognosis is presented.

Determinants of performance in rare strategic events

DEFF Research Database (Denmark)

Andersen, Kristina Vaarst; Beukel, Karin

The paper develops and tests a theoretical framework explaining how emotions and learning affect outcomes of rare strategic events, namely Intellectual Property litigations. We investigate how organizations? negative emotions influence performance outcome in IP litigations negatively. Though...... cumulative learning in rare strategic events is scarce, and cannot be understood through the standard framework of routines and capability development, we argue that firms may learn from rare events, and propose that learning moderates the negative effect of emotions. We test this utilizing data on all...... publically available IP litigation cases in China from 2001 to 2009 (n=13,030). We find that when organizations undergo emotional negative stress they lose IP litigations more often, but development of roadmaps though past successes moderate the negative effects from emotional distress....

Rare upper gastrointestinal hemorrhage of cetuximab: A case report.

Science.gov (United States)

Duan, Shi-Jie; Gao, Zi-Ming; Wang, Peng-Liang; Gong, Bao-Cheng; Huang, Han-Wei; Luo, Lei; Wang, Xin; Xing, Ya-Nan; Xu, Hui-Mian; Liu, Fu-Nan

2017-12-01

cetuximab, an epidermal growth factor receptor inhibitor, is a targeted therapeutic regimen of colorectal cancers. Several common adverse effects have been found, such as cutaneous or gastrointestinal toxicity. However, according to the articles had been published, upper gastrointestinal bleeding (UGIB) is considered to be rare and its mechanism remains unclear. In this report, we presented a 42-year-old male patient with advanced recto-sigmoid cancer. After palliative operation, the patient suffered from complete upper gastrointestinal (GI) obstruction, which was induced by extensive abdominal metastasis of the tumor. Considering his poor condition, we chose the targeted drug, cetuximab, as his further treatment. But after the application of cetuximab, the UGIB immediately happened twice in this patient. UGIB, as a rare complication of cetuximab, occured to the patient. We stopped the bleeding with thrombin, hemocoagulase and somatostatin and suspended the subsequent treatment plan of cetuximab. At the same time, anti-shock treatment was given immediately. He was died of respiratory and circulatory failure caused by UGIB and advanced tumor eventually. UGIB should be considered as a rare but severe complication of cetuximab. When cetuximab is applied for patients with advanced colon tumors, more cautions should be required if the patients are accompanied by upper gastrointestinal obstruction. In addition, for those patients who suffered from UGIB recently, cetuximab should be prohibited if the Rockall score ranged > 5 points. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

RARE BRANCHIAL ARCH ANOMALIES

Directory of Open Access Journals (Sweden)

Jayanta Kumar

2016-03-01

Full Text Available AIM Amongst the branchial arch anomalies third arch anomaly occurs rarely and more so the fourth arch anomalies. We present our experience with cases of rare branchial arch anomalies. PATIENTS AND METHODS From June 2006 to January 2016, cases having their external opening in the lower third of sternocleidomastoid muscle with the tract going through thyroid gland and directing to pyriform sinus (PFS or cysts with internal opening in the PFS were studied. RESULTS No fourth arch anomaly was encountered. One cyst with internal opening which later on formed a fistula, three fistulae from beginning and two sinuses were encountered. The main stay of diagnosis was the fistula in the PFS and the tract lying posterior to the internal carotid artery. Simple excision technique with a small incision around the external opening was done. There was no recurrence. CONCLUSION Third arch fistula is not very rare as it was thought. Internal fistula is found in most of the cases. Though radiological investigations are helpful, fistulae can be diagnosed clinically and during operation. Extensive operation of the neck, mediastinum and pharynx is not required.

Chondromyxoid fibroma of distal 1/3 rd of fibula a rare tumour at rare ...

African Journals Online (AJOL)

Chondromyxoid fibromas are rare, benign tumours account for <1% of primary bone neoplasms. Most commonly affected in 2nd and 3rdof life. We report one such case of chondromyxoid fibroma in distal fibula of a 15-year-old girl. The patient was managed with lower 3rd fibulectomy and fibular turnoplasty from middle 3rd ...

The industry of metallic rare earths (R.E.)

International Nuclear Information System (INIS)

Poirier, P.

1979-01-01

The following subjects are discussed: rare earths resources (rare earths abondance and world reserves, main ores). Rare earths separation and purification (ionic exchange, solvent extraction). Metallic rare earths and their mixtures, metallothermic reduction of oxides or fluorides (Ca, Mg, Al, Si or rare earth metals), Co-reduction process for intermetallic compounds (SmCo 5 ). Industrial applications of metallic rare earths (traditional applications such as flints, nodular cast iron, steel refining, magnesium industrie, applications under development such as rare earths/cobalt magnets, LaNi 5 for hydrogen storage, special alloys (automotive post combustion), magnetostrictive alloys). Economical problems: rare earth are elements relatively abundant and often at easily accessible prices. However, this group of 15 elements are liable to certain economical restraints. It is difficult to crack ore for only one rare earth. Availability of one given rare earth must be associated with the other corresponding rare earths to absorb all the other rare earths in other applications. Rare-earth industry has a strong expanding rate. 20% per year average for 6 years with Rhone-Poulenc. Thanks to their exceptional, specific characteristics rare earths have a bright future particularly for their metals

Focal neuronal gigantism: a rare complication of therapeutic radiation.

Science.gov (United States)

Gaughen, J R; Bourne, T D; Aregawi, D; Shah, L M; Schiff, D

2009-11-01

Radiation therapy, a mainstay in the treatment of many brain tumors, results in a variety of well-documented acute and chronic complications. Isolated cortical damage following irradiation represents an extremely rare delayed therapeutic complication, described only twice in the medical literature. We report this rare delayed complication in a patient following treatment of a right frontal anaplastic oligodendroglioma.

Report 1: International Cooperation to Development of Strategy and R&D Collaboration for Substitution of Rare Earth Resources and Report 2: Development of Magnetocaloric Alloys without Critical Elements

Energy Technology Data Exchange (ETDEWEB)

Lee, Min Ha [Ames Laboratory (AMES), Ames, IA (United States); Ott, Ryan [Ames Laboratory (AMES), Ames, IA (United States)

2016-05-26

A Memorandum of Understanding was signed between the Ames Laboratory and Korea Institute of Industrial Technology (KITECH) in April of 2011 to establish a close cooperative relationship of research on Rare Metals. The Ames Laboratory through its operating contractor, Iowa State University, and the KITECH, as one of the goals of a joint Memorandum of Understanding, made agreement on a Cooperative Research and Development Agreement (CRADA) for a personnel exchange in April of 2012. Ames Laboratory and KITECH would be jointly performing collaboration work in this cooperation as the Parties. The individual backgrounds and capabilities of the Parties are ideally suited to the successful execution of this work. The Ames Laboratory has a history spanning more than 60 years of pioneering work in rare-earth (RE) research. With its team of internationally recognized rare-earth experts, the Ames Laboratory is uniquely positioned to provide the knowledge, expertise and training necessary to help ensure a global leadership position for the United States in rare-earth research, development and applications. The KITECH was founded to promote technological capability of small and medium-sized enterprises in Korea and has a mission of supporting research on materials science and engineering in Korea. In 2009, Korea Institute for Rare Metals (KIRAM) at KITECH was established. KIRAM makes selection and funding decisions for technology projects for strategic rare metals, and provides oversight of R&D programs. The KIRAM is focusing on the commercialization and recycling of particular rare metals. In addition KIRAM will be coordinating government, local universities, and small to medium enterprises to facilitate R&D support for core technologies. KIRAM will be carrying them through to commercialization, and establishing new industry.

A rare case of de novo gigantic ovarian abscess within an endometrioma.

Science.gov (United States)

Hameed, Aisha; Mehta, Vaishali; Sinha, Prabha

2010-06-01

We are reporting a rare case of de novo ovarian abscess in an endometrioma. Ovarian abscess within an endometrioma is a rare gynecological problem, but de novo abscess in the endometrioma is even rarer. Most of the ovarian abscesses develop in the endometriomas following interventions, e.g., aspiration, pelvic surgery, and oocyte retrieval. We are presenting a case of a spontaneous giant abscess in a large ovarian cyst in a nulliparous woman who presented with acute abdomen. Patient was treated in a district general hospital with multidisciplinary approach. Thirteen liters of the pus were drained. She has had a sub total (supra cervical) hysterectomy and bilateral salpingo-oophorectomy (BSO) performed. Histology of the abscess wall confirmed endometriotic nature of the cyst. Patient made an uneventful recovery and was discharged home on the 14th postoperative day. This case highlights that endometrioma and its complication can present as a surgical emergency and should be dealt as one.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Science.gov (United States)

Lochmüller, Hanns; Torrent I Farnell, Josep; Le Cam, Yann; Jonker, Anneliene H; Lau, Lilian Pl; Baynam, Gareth; Kaufmann, Petra; Dawkins, Hugh Js; Lasko, Paul; Austin, Christopher P; Boycott, Kym M

2017-12-01

The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members-currently nearly 50 strong-have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Science.gov (United States)

Baynam, Gareth; Bowman, Faye; Lister, Karla; Walker, Caroline E; Pachter, Nicholas; Goldblatt, Jack; Boycott, Kym M; Gahl, William A; Kosaki, Kenjiro; Adachi, Takeya; Ishii, Ken; Mahede, Trinity; McKenzie, Fiona; Townshend, Sharron; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Broley, Stephanie; Schofield, Lyn; Verhoef, Hedwig; Groza, Tudor; Zankl, Andreas; Robinson, Peter N; Haendel, Melissa; Brudno, Michael; Mattick, John S; Dinger, Marcel E; Roscioli, Tony; Cowley, Mark J; Olry, Annie; Hanauer, Marc; Alkuraya, Fowzan S; Taruscio, Domenica; Posada de la Paz, Manuel; Lochmüller, Hanns; Bushby, Kate; Thompson, Rachel; Hedley, Victoria; Lasko, Paul; Mina, Kym; Beilby, John; Tifft, Cynthia; Davis, Mark; Laing, Nigel G; Julkowska, Daria; Le Cam, Yann; Terry, Sharon F; Kaufmann, Petra; Eerola, Iiro; Norstedt, Irene; Rath, Ana; Suematsu, Makoto; Groft, Stephen C; Austin, Christopher P; Draghia-Akli, Ruxandra; Weeramanthri, Tarun S; Molster, Caron; Dawkins, Hugh J S

2017-01-01

Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care. In the rare diseases field, the vast majority of diseases are caused by destructive but previously difficult to identify protein-coding gene mutations. The reduction in cost of genetic testing and advances in the clinical use of genome sequencing, data science and imaging are converging to provide more precise understandings of the 'person-time-place' triad. That is: who is affected (people); when the disease is occurring (time); and where the disease is occurring (place). Consequently we are witnessing a paradigm shift in public health policy and practice towards 'precision public health'.Patient and stakeholder engagement has informed the need for a national public health policy framework for rare diseases. The engagement approach in different countries has produced highly comparable outcomes and objectives. Knowledge and experience sharing across the international rare diseases networks and partnerships has informed the development of the Western Australian Rare Diseases Strategic Framework 2015-2018 (RD Framework) and Australian government health briefings on the need for a National plan.The RD Framework is guiding the translation of genomic and other technologies into the Western Australian health system, leading to greater precision in diagnostic pathways and care, and is an example of how a precision public health framework can improve health outcomes for the rare diseases population.Five vignettes are used to illustrate how policy

Rare causes of scoliosis and spine deformity: experience and particular features

Directory of Open Access Journals (Sweden)

Pliarchopoulou Fani M

2007-10-01

Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

Rare Inferior Shoulder Dislocation (Luxatio Erecta)

Science.gov (United States)

Cift, Hakan; Soylemez, Salih; Demiroglu, Murat; Ozkan, Korhan; Ozden, Vahit Emre; Ozkut, Afsar T.

2015-01-01

Although shoulder dislocations have been seen very frequently, inferior dislocation of shoulder constitutes only 0.5% of all shoulder dislocations. We share our 4 patients with luxatio erecta and present their last clinical control. 2 male and 2 female Caucasian patients were diagnosed as luxatio erecta. Patients' ages were 78, 62, 65, and 76. All patients' reduction was done by traction-abduction and contour traction maneuver in the operating room. The patients had no symptoms and no limitation of range of motion of their shoulder at their last control. Luxatio erecta is seen rarely, and these patients may have neurovascular injury. These patients should be carefully examined and treated by the orthopaedic and traumatology surgeons. PMID:25883820

Bisalbuminemia: A Rare Variant of Albumin

Directory of Open Access Journals (Sweden)

Carla Garcez

2017-04-01

Discussion: We describe a rare case of hereditary bisalbuminemia in a portuguese family. In general, this condition shows no pathological significance, however it is of interest to the clinicians the knowledge of this analytic change for better orientation of their patients.

[Moyamoya disease as a rare cause of ischaemic stroke--case report].

Science.gov (United States)

Kułakowska, Alina; Kapica-Topczewska, Katarzyna; Borowik, Helena; Drozdowski, Wiesław

2009-10-01

Moyamoya disease is a rare, progressive disease of the vessels diagnosed according to characteristic abnormalities of brain arteries in the angiography. The incidence of moyamoya disease in Europe is lower than in Asia and its clinical course in European population is probably different from Asiatic (older age of onset and rare incidence of hemorrhagic strokes). Two young patients were diagnosed as moyamoya disease on the basis of clinical symptoms (ischaemic stroke) and results of brain vessels' angiography, which documented an occlusion of both internal carotid arteries above branching-off the ocular arteries in the first patient and stenosis of distal internal carotid arteries and proximal medial and anterior cerebral arteries in the second one. Both patients are under control of the Neurological Outpatient Department and their neurological state is stable. Despite that moyamoya disease is a rare cause of ischaemic stroke, it should be always considered as one of etiologic factors, especially in young patients.

Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.

Science.gov (United States)

Tan, Jin Ai Mary Anne; Chin, Pui See; Wong, Yean Ching; Tan, Kim Lian; Chan, Lee Lee; George, Elizabeth

2006-10-01

In Malaysia, about 4.5% of the Malay and Chinese populations are heterozygous carriers of beta-thalassaemia. The initial identification of rare beta-globin gene mutations by genomic sequencing will allow the development of simpler and cost-effective PCR-based techniques to complement the existing amplification refractory mutation system (ARMS) and gap-PCR used for the identification of beta-thalassaemia mutations. DNA from 173 beta-thalassaemia carriers and five beta-thalassaemia major patients from the Malay, Chinese and Indian ethnic groups were first analysed by ARMS and gap-PCR. Ninety-five per cent (174/183) of the 183 beta-globin genes studied were characterised using these two techiques. The remaining nine uncharacterised beta-globin genes (4.9%) were analysed using genomic sequencing of a 904 bp amplified PCR product consisting of the promoter region, exon 1, intervening sequence (IVS) 1, exon 2 and the 5' IVS2 regions of the beta-globin gene. The rare beta-globin mutations detected in the Chinese patients were CD27/28 (+C) and CD43 (GAG-TAG), and -88 (C-T) in an Indian patient. Beta-globin mutations at CD16 (-C), IVS1-1 (G-A), IVS2-1 (G-A), -86 (C-G) and Haemoglobin South Florida (CD1, GTG-ATG) were confirmed in the Malay patients. The seven rare beta-globin mutations and a rare haemoglobin variant confirmed in this study have been described in other populations but have not been previously described in Malaysian beta-thalassemia patients.

Rare upper gastrointestinal hemorrhage of cetuximab

OpenAIRE

Duan, Shi-Jie; Gao, Zi-Ming; Wang, Peng-Liang; Gong, Bao-Cheng; Huang, Han-Wei; Luo, Lei; Wang, Xin; Xing, Ya-Nan; Xu, Hui-Mian; Liu, Fu-Nan

2017-01-01

Abstract Rationale: cetuximab, an epidermal growth factor receptor inhibitor, is a targeted therapeutic regimen of colorectal cancers. Several common adverse effects have been found, such as cutaneous or gastrointestinal toxicity. However, according to the articles had been published, upper gastrointestinal bleeding (UGIB) is considered to be rare and its mechanism remains unclear. Patient concerns: In this report, we presented a 42-year-old male patient with advanced recto-sigmoid cancer. Af...

A Rare Cause of Acute Kidney Injury in a Female Patient with Breast Cancer Presenting as Renal Colic

Directory of Open Access Journals (Sweden)

Roxana Jurubita

2016-01-01

Full Text Available Renal infarction is a rare cause of acute kidney injury which could lead to permanent loss of renal function. A prompt diagnosis is necessary in order to achieve a successful revascularization of the occluded artery. Given the rarity of the disease and the paucity of the reported cases in the previous literature a high index of suspicion must be maintained not only in the classical cardiac sources of systemic emboli (atrial fibrillation, dilated cardiomyopathy, or endocarditis, but also in the situations when a hypercoagulable state is presumed. The unspecific presenting symptoms often mask the true etiology of the patient’s complaints. We present here a rare case of renal infarction that occurred in the setting of a hypercoagulable state, in a female patient with a history of breast cancer and documented hepatic metastases.

Rare malformation of glans penis: arteriovenous malformation.

Science.gov (United States)

Akin, Y; Sarac, M; Yucel, S

2013-01-01

Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

Resources, challenges and way forward in rare mitochondrial diseases research [v1; ref status: indexed, http://f1000r.es/54x

Directory of Open Access Journals (Sweden)

Anshu Bhardwaj

2015-03-01

Full Text Available Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.

Plant for removing radioactive rare gases

International Nuclear Information System (INIS)

An, Buzai; Kanazawa, Toshio

1977-01-01

The outline of the pilot plant to remove and recover radioactive rare gases generated from nuclear power plants, reprocessing installations for nuclear fuel, nuclear research installations, etc. is described below. Among the studies of various processes such as liquefaction and distillation, absorption into solvents, active carbon adsorption, diaphragm method, etc., the liquefaction and distillation process by rectification at low temperature has been positively developed. It is in the stage of practical application for removing rare gases in waste gases from reprocessing and nuclear power plants. This is the process with high safety and excellent rare gas removing capability. Further research and development have been also made for selective adsorption and desorption method at low temperature which is very efficient as there is no release of long life nuclides such as Krypton-85. Rare gases recovered by the above mentioned removal systems must be stored safely for a long time as their half lives are long and specific radioactivities are high. The study has been made continuously on the storage methods including adsorption in cylinders and remotely automatically sealing storing system. (Kobatake, H.)

Process technology - rare and refractory metals

International Nuclear Information System (INIS)

Gupta, C.K.; Bose, D.K.

1989-01-01

India has fairly rich resreves of rare and refractory metals. Abundant sources of ilmenite, rutile, zircon and rare earths are found in the placer deposits of the southern and eastern coasts of the country. Columbite-tantalite occur in mica and the mining belts of Bihar and cassiterite deposits are found in Bastar (Madhya Pradesh). Vanadium as a minor associate occurs in bauxites and in the vast deposits of titaniferrous magnetites. Over the years, research and development and pilot plant works in many research organisations in India have built up a sound technological base in the country for process metallurgy of many refractory and rare earth metals starting from their indigenous sources. The present paper provides a comprehensive view of the developments that have taken place till now on the processing of various refractory and rare earth metals with particular reference to the extensive work carried out at the Department of Atomic Energy. The coverage includes mineral benification separation of individual elements, preparation of pure intermediates, techniques of reduction to metal and final purification. The paper also reviews some of the recent developments that have been taken place in these fields and the potential application of these metals in the foreseeable future. (author). 22 refs., 18 fi g., 7 tabs

Development of reduction technology for oxide fuel. Behaviour of rare-earth in lithium reduction process

International Nuclear Information System (INIS)

Kato, Tetsuya; Usami, Tsuyoshi; Yuda, Ryoichi; Kurata, Masateru; Moriyama, Hirotake

2000-01-01

Solubility measurements of rare-earth oxides in molten LiCl-Li 2 O salt and reduction tests of UO 2 doped with rare-earth oxides were carried out to determine the behavior of rare-earths in lithium reduction process. The solubility of rare-earth oxides increases in the order of Gd 2 O concentration. In multi-element systems including 6 rare-earth oxides, the solubility of each element is smaller than that in the individual systems. In the reduction tests, more than 90% of UO 2 was reduced within 1 hour after starting reduction and about 7% of rare-earths eluded into the LiCl molten salt bath containing Li 2 O which is formed by the reduction of UO 2 . The rare-earth concentrations in the bath were evaluated using the solubility data, assuming that rare-earth oxides in multi-element systems form solid solution as the equilibrium solid phase and that the activity coefficients in the solid phase are independent of the compositions. The calculated concentrations are consistent with the experimental ones obtained in the reduction tests. (author)

A systematic literature review of evidence-based clinical practice for rare diseases

DEFF Research Database (Denmark)

Rath, Ana; Salamon, Valérie; Peixoto, Sandra

2017-01-01

diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes....... CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic...

Rapunzel Syndrome: a rare cause of acute small bowel obstruction ...

African Journals Online (AJOL)

The Rapunzel syndrome is a very rare condition where trichobezoar has extended up to the small bowel. Here we are reporting a rare case of Rapunzel syndrome in an adolescent girl with history of trichophagia who presented with small bowel obstruction. Patient underwent exploratory laparotomy and bezoar was ...

[Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].

Science.gov (United States)

Qin, Shengfang; Wang, Xueyan; Li, Yunxing; Wei, Ping; Chen, Chun; Zeng, Lan

2016-02-01

To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9. The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH). The karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man. The phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

Practice development: providing benefits for both managers and older patients with delerium and dementia.

Science.gov (United States)

Bezzant, Kim

2008-03-01

This article describes the ways in which practice development can aid Nurse Managers to enhance both efficiency and effectiveness, focussing particularly on the care of older people with delerium and dementia. Practitioners caring for this group of patients in acute general hospitals need specialist skills, particularly skills in working with the unusual ('challenging') behaviours that these patients often exhibit. These skills are rarely present at the point of registration but practice development techniques can facilitate the acquisition of appropriate skills with resultant benefits for both patients and organization. The study contains an outline of the ways in which a practice development approach can be delivered and appraised: the theories are outlined, strategies for delivery of the techniques are described and methods of evaluation are suggested. These theories and techniques are being applied in a project in Portsmouth called 'Rise to the Challenge', which has the specific aim of improving the care of people with delerium and dementia in an acute hospital setting. This project is currently running and will be evaluated in the summer of 2008.

Two rare cases of laryngeal intralymphatic histiocytosis

DEFF Research Database (Denmark)

Reznitsky, Martin; Daugaard, Søren; Charabi, Birgitte Wittenborg

2016-01-01

We report two rare cases of intralymphatic histiocytosis causing, respectively, recurrent and persistent episodes of upper airway swelling and breathing difficulties. Case 1 was a 39-year-old man who was referred with recurrent upper airway swelling causing difficulty in breathing. A direct....... Extensive investigations were performed but discovered no abnormal findings. He received CO2 laser treatment twice and the swelling decreased. Intralymphatic histiocytosis is extremely rare in upper airway pathology. It is an important differential diagnosis in patients with recurrent and chronic laryngeal...

Merkel Cell Carcinoma: Interdisciplinary Management of a Rare Disease

International Nuclear Information System (INIS)

Schneider, S.; Thurnher, D.; Erovic, B. M.

2013-01-01

The goal of this paper is to review contemporary multidisciplinary treatment with reference to Milkier cell carcinoma. Management of this rare but highly aggressive skin cancer is a complex undertaking that necessitates an understanding of its etiology, epidemiology, clinical presentation, and the coordinated work of several clinical specializations. Recent Findings. The contemporary literature employs a multidisciplinary approach to achieve the best patient's treatment. Conclusion. This paper presents an algorithm for contemporary management for the rare and aggressive Merkel cell carcinoma. Multidisciplinary approach in a tumor center provides high-quality care for patients with Merkel cell carcinoma.

Merkel Cell Carcinoma: Interdisciplinary Management of a Rare Disease

Directory of Open Access Journals (Sweden)

Sven Schneider

2013-01-01

Full Text Available Background. The goal of this paper is to review contemporary multidisciplinary treatment with reference to Merkel cell carcinoma. Management of this rare but highly aggressive skin cancer is a complex undertaking that necessitates an understanding of its etiology, epidemiology, clinical presentation, and the coordinated work of several clinical specializations. Recent Findings. The contemporary literature employs a multidisciplinary approach to achieve the best patient's treatment. Conclusion. This paper presents an algorithm for contemporary management for the rare and aggressive Merkel cell carcinoma. Multidisciplinary approach in a tumor center provides high-quality care for patients with Merkel cell carcinoma.

Why some plant species are rare.

Science.gov (United States)

Wieger Wamelink, G W; Wamelink, G W Weiger; Goedhart, Paul W; Frissel, Joep; Frissel, Josep Y

2014-01-01

Biodiversity, including plant species diversity, is threatened worldwide as a result of anthropogenic pressures such as an increase of pollutants and climate change. Rare species in particular are on the verge of becoming extinct. It is still unclear as to why some plant species are rare and others are not. Are they rare due to: intrinsic reasons, dispersal capacity, the effects of management or abiotic circumstances? Habitat preference of rare plant species may play an important role in determining why some species are rare. Based on an extensive data set of soil parameters we investigated if rarity is due to a narrow habitat preference for abiotic soil parameters. For 23 different abiotic soil parameters, of which the most influential were groundwater-table, soil-pH and nutrient-contents, we estimated species responses for common and rare species. Based on the responses per species we calculated the range of occurrence, the range between the 5 and 95 percentile of the response curve giving the habitat preference. Subsequently, we calculated the average response range for common and rare species. In addition, we designed a new graphic in order to provide a better means for presentation of the results. The habitat preferences of rare species for abiotic soil conditions are significantly narrower than for common species. Twenty of the twenty-three abiotic parameters showed on average significantly narrower habitat preferences for rare species than for common species; none of the abiotic parameters showed on average a narrower habitat preference for common species. The results have major implications for the conservation of rare plant species; accordingly management and nature development should be focussed on the maintenance and creation of a broad range of environmental conditions, so that the requirements of rare species are met. The conservation of (abiotic) gradients within ecosystems is particularly important for preserving rare species.

Synovial sarcoma: a rare presentation of parapharyngeal mass.

Science.gov (United States)

Shaariyah, Mohd Mokhtar; Mazita, Ami; Masaany, Mansor; Razif, Mohd Yunus; Isa, Mohamed Rose; Asma, Abdullah

2010-06-01

Synovial sarcoma is a rare soft tissue sarcoma of the head and neck region involving the parapharyngeal space. The diagnosis of synovial sarcoma can be very challenging to the pathologists. We present a rare case of parapharyngeal synovial sarcoma in a young female patient who had a two-month history of left cervical intumescent mass at level II. The fine needle aspiration cytology of the mass was proved inconclusive. Transcervical excision of the mass was performed and the first case of parapharyngeal sarcoma was identified in our center by fluorescence in situ hybridization (FISH) technique. Repeat imaging revealed residual tumor. The patient successfully underwent a second excision of the residual tumor and received adjuvant radiotherapy.

A Rare Neurological Involvement in Sjogrens Syndrome: Abducens Nerve Palsy

Directory of Open Access Journals (Sweden)

Yunus Ugan

2016-05-01

Full Text Available Sjogren%u2019s syndrome (SS is an autoimmune disorder characterized by lymphocytic infiltration of exocrine organs. Although neurological involvement occurs in approximately one quarter of patients, involvement of cranial nerves is a relatively rare occurrence. Here a rare case of cranial neuropathy related to SS is reported.

The Matchmaker Exchange: a platform for rare disease gene discovery

NARCIS (Netherlands)

Philippakis, A.A.; Azzariti, D.R.; Beltran, S.; Brookes, A.J.; Brownstein, C.A.; Brudno, M.; Brunner, H.G.; Buske, O.J.; Carey, K.; Doll, C.; Dumitriu, S.; Dyke, S.O.M.; Dunnen, J.T. den; Firth, H.V.; Gibbs, R.A.; Girdea, M.; Gonzalez, M.; Haendel, M.A.; Hamosh, A.; Holm, I.A.; Huang, L.; Hurles, M.E.; Hutton, B.; Krier, J.B.; Misyura, A.; Mungall, C.J.; Paschall, J.; Paten, B.; Robinson, P.N.; Schiettecatte, F.; Sobreira, N.L.; Swaminathan, G.J.; Taschner, P.E.M.; Terry, S.F.; Washington, N.L.; Zuchner, S.; Boycott, K.M.; Rehm, H.L.

2015-01-01

There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of

Community Assembly Processes of the Microbial Rare Biosphere.

Science.gov (United States)

Jia, Xiu; Dini-Andreote, Francisco; Falcão Salles, Joana

2018-03-14

Our planet teems with microorganisms that often present a skewed abundance distribution in a local community, with relatively few dominant species coexisting alongside a high number of rare species. Recent studies have demonstrated that these rare taxa serve as limitless reservoirs of genetic diversity, and perform disproportionate types of functions despite their low abundances. However, relatively little is known about the mechanisms controlling rarity and the processes promoting the development of the rare biosphere. Here, we propose the use of multivariate cut-offs to estimate rare species and phylogenetic null models applied to predefined rare taxa to disentangle the relative influences of ecoevolutionary processes mediating the assembly of the rare biosphere. Importantly, the identification of the factors controlling rare species assemblages is critical for understanding the types of rarity, how the rare biosphere is established, and how rare microorganisms fluctuate over spatiotemporal scales, thus enabling prospective predictions of ecosystem responses. Copyright © 2018 Elsevier Ltd. All rights reserved.

Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient

Directory of Open Access Journals (Sweden)

Cláudio Martins

Full Text Available Primary intestinal lymphangiectasia or Waldmann's disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and non-erosive gastrointestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure. Since there are no accurate serological or radiological available tests, enteroscopy with histopathological examination based on intestinal biopsy specimens is currently the gold standard diagnostic modality of intestinal lymphangiectasia. We report a rare case of a primary intestinal lymphangiectasia in a 60-year-old Caucasian female who presented with asymptomatic hypoalbuminemia and hypogammaglobulinemia. After the diagnosis of a protein losing enteropathy, the patient underwent an enteroscopy and biopsies were taken, whose histological examination confirmed dilated intestinal lymphatics with broadened villi of the small bowel. Secondary causes of intestinal lymphangiectasia were excluded and the diagnosis of Waldmann's disease was recorded. The patient was put on a high-protein and low-fat diet with medium-chain triglyceride supplementation with improvement.

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients

DEFF Research Database (Denmark)

Christensen, Lise Lotte; Kariola, Reetta; Korhonen, Mari K

2009-01-01

Recently, we have performed a population based study to analyse the frequency of colorectal cancer related MLH1 and MSH2 missense mutations in the Danish population. Half of the analyzed mutations were rare and most likely only present in the families where they were identified originally. Some...... of the missense mutations were located in conserved regions in the MLH1 and MSH2 proteins indicating a relation to disease development. In the present study, we functionally characterized 10 rare missense mutations in MLH1 and MSH2 identified in 13 Danish CRC families. To elucidate the pathogenicity...

Teratoid Wilms′ tumor - A rare renal tumor

Directory of Open Access Journals (Sweden)

Biswanath Mukhopadhyay

2011-01-01

Full Text Available Teratoid Wilms′ tumor is an extremely rare renal tumor. We report a case of unilateral teratoid Wilms′ tumor in a 4-year-old girl. The patient was admitted with a right-sided abdominal mass. The mass was arising from the right kidney. Radical nephrectomy was done and the patient had an uneventful recovery. Histopathology report showed teratoid Wilms′ tumor.

The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs to Identify Osteoclast Defects in Rare Genetic Bone Disorders

Directory of Open Access Journals (Sweden)

I-Ping Chen

2014-12-01

Full Text Available More than 500 rare genetic bone disorders have been described, but for many of them only limited treatment options are available. Challenges for studying these bone diseases come from a lack of suitable animal models and unavailability of skeletal tissues for studies. Effectors for skeletal abnormalities of bone disorders may be abnormal bone formation directed by osteoblasts or anomalous bone resorption by osteoclasts, or both. Patient-specific induced pluripotent stem cells (iPSCs can be generated from somatic cells of various tissue sources and in theory can be differentiated into any desired cell type. However, successful differentiation of hiPSCs into functional bone cells is still a challenge. Our group focuses on the use of human iPSCs (hiPSCs to identify osteoclast defects in craniometaphyseal dysplasia. In this review, we describe the impact of stem cell technology on research for better treatment of such disorders, the generation of hiPSCs from patients with rare genetic bone disorders and current protocols for differentiating hiPSCs into osteoclasts.

Using experiments and demographic models to assess rare plant vulnerability to utlity-scale solar energy development

Science.gov (United States)

Moore, K. A.

2015-12-01

Pressing challenges for the implementation of solar energy are the effects of construction and operation on protected animal and plant species. Siting and mitigation of solar energy often requires understanding of basic biology and distributions of rare species that are unknown. How can we rapidly collect the information necessary on species- and site-specific population dynamics to effectively design mitigation and conservation measures? We have developed an integrated approach to assessing the vulnerability of a suite of representative rare plant species in the region. We implemented a prioritized series of demographic and experimental studies over the past four years to identify the types of species, populations, and life stages most vulnerable to impact or prone to conservation efforts. We have found substantial variation in vegetative and sexual reproduction between study populations for several rare plants, including between populations that vary in putative impact by development and/or effects of experimental solar arrays. For a subset of species, we designed population viability analysis and applied them to identify sensitive vital rates and compare quasi-extinction probabilities under different climate and impact scenarios. By utilizing practical experiments to test for the effects of real or simulated impacts, we found differences in vital rates between natural and disturbed populations adjacent to and within solar installations. We draw conclusions from our work to guide the analysis of benefits, permitting, and design of utility-scale solar energy facilities.

Orphan drugs: trends and issues in drug development.

Science.gov (United States)

Rana, Proteesh; Chawla, Shalini

2018-04-12

Research in rare diseases has contributed substantially toward the current understanding in the pathophysiology of the common diseases. However, medical needs of patients with rare diseases have always been neglected by the society and pharmaceutical industries based on their small numbers and unprofitability. The Orphan Drug Act (1983) was the first serious attempt to address the unmet medical needs for patients with rare diseases and to provide impetus for the pharmaceutical industry to promote orphan drug development. The process of drug development for rare diseases is no different from common diseases but involves significant cost and infrastructure. Further, certain aspect of drug research may not be feasible for the rare diseases. The drug-approving authority must exercise their scientific judgment and ensure due flexibility while evaluating data at various stages of orphan drug development. The emergence of patent cliff combined with the government incentives led the pharmaceutical industry to realize the good commercial prospects in developing an orphan drug despite the small market size. Indeed, many drugs that were given orphan designation ended up being blockbusters. The orphan drug market is projected to reach $178 billion by 2020, and the prospects of research and development in rare diseases appears to be quite promising and rewarding.

Nodules on the Hair: A Rare Case of Mixed Piedra

OpenAIRE

Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

2013-01-01

Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

Nodules on the hair: a rare case of mixed piedra.

Science.gov (United States)

Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

2013-10-01

Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

Analysis of Uranium and Thorium in Waste Water from Rare Earth Research and Development by ICP Spectrometry

International Nuclear Information System (INIS)

Pichestapong, Pipat; Injareon, Uthaiwan

2007-08-01

Full text: Waste water from Rare Earth Research and Development Center (RRDC) was analyzed to determine uranium and thorium concentration using ICP spectrometry. RRDC processes monazite ore to separate uranium, thorium and rare earth elements from the ore. Water samples from the ditch surrounding the center and from the canal nearby were also analyzed. Matrix spike technique was applied in this analysis. It was found that the highest concentration of uranium and thorium in the waste water samples were 3028±11 and 439±7 ppb, respectively. The concentration of uranium and thorium in the waste water samples were higher than those in water samples from the ditch and canal

Resources, challenges and way forward in rare mitochondrial diseases research [v2; ref status: indexed, http://f1000r.es/5r6

Directory of Open Access Journals (Sweden)

Neeraj Kumar Rajput

2015-08-01

Full Text Available Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.

A Rare Case of Petrified Ear

Directory of Open Access Journals (Sweden)

Kathryn E. Buikema

2012-01-01

Full Text Available Calcification or ossification of the auricle, also referred to as petrified ear, is a rare diagnosis in dermatology. In medical literature, it has most often been attributed to trauma, hypothermia and frostbite, or hypercalcemia secondary to a metabolic or endocrine disorder, such as Addison's disease. Here, we report the clinical and radiologic findings of a 79-year-old African American male whose unilateral petrified auricle was an incidental finding. He had a preceding history of hyperparathyroidism and subsequent hypercalcemia treated with a subtotal parathyroidectomy three years prior to presentation. In addition to laboratory analysis, a history and physical examination was performed which revealed no other signs of hypercalcemia. Radiologic studies demonstrated partial ossification of the external auricular cartilage on the left side. The patient was diagnosed with the rare occurrence of a petrified ear. In light of this case, we provide a discussion concerning the possible etiologies of this diagnosis including appropriate patient evaluation and possible treatment recommendations.

Mounier-Kuhn syndrome: a rare cause of bronchial dilation.

Science.gov (United States)

Celik, Burcin; Bilgin, Salih; Yuksel, Canan

2011-01-01

Mounier-Kuhn syndrome, or tracheobronchomegaly, is a rare clinical and radiologic condition characterized by marked tracheobronchial dilation and recurrent lower respiratory tract infections. Diagnosis is typically accomplished with the use of computed tomography and bronchoscopy, as well as pulmonary function testing. Patients may be asymptomatic; however, symptoms can range from minimal with preserved lung function to severe respiratory failure. Therapy, if any, is supportive but minimal. Surgery rarely has a place in the treatment of Mounier-Kuhn syndrome.Herein, we report the case of a 58-year-old man with chronic obstructive pulmonary disease who had a chronic cough, increased sputum production, and chest pain. Thoracic computed tomography showed tracheal dilation (diameter, 34 mm) and multiple diverticula in the posterior region of the trachea. Fiberoptic bronchoscopy revealed enlarged main bronchi, the dilated trachea, and prominent tracheal diverticula. Pulmonary function testing disclosed impaired respiratory function. Histopathologic examination of biopsy specimens from the bronchi and the tracheal wall supported the diagnosis of Mounier-Kuhn syndrome. The patient was released from the hospital and his condition was monitored for 2 years, during which time he developed no lower respiratory tract infections.Regardless of radiologic findings that suggest recurrent lower respiratory tract infection, we recommend that Mounier-Kuhn syndrome be considered in the differential diagnosis.

Rare earth elements materials production from apatite ores

International Nuclear Information System (INIS)

Anufrieva, A V; Buynovskiy, A S; Makaseev, Y N; Mazov, I N; Nefedov, R A; Sachkov, V I; Valkov, A V; Andrienko, O S; Stepanova, O B

2016-01-01

The paper deals with the study of processing apatite ores with nitric acid and extraction of the rare earth elements. The rare earth elements can be successfully separated and recovered by extraction from the nitrate- phosphate solution, being an tributyl phosphate as extraction agent. The developed scheme of the processing apatite concentrate provides obtaining rare earth concentrates with high qualitative characteristics. (paper)

Thrombotic thrombocytopenic purpura or immune thrombocytopenia in a sickle cell/β+-thalassemia patient: a rare and challenging condition.

Science.gov (United States)

Vlachaki, Efthymia; Agapidou, Aleka; Neokleous, Nikolaos; Adamidou, Despoina; Vetsiou, Evaggelia; Boura, Panagiota

2014-10-01

The diagnosis of thrombotic thrombocytopenic purpura is one of the possible diagnosis when a patient is admitted with unexpected micro-angiopathic hemolytic anemia and thrombocytopenia. The combination of sickle cell/β(+)-thalassemia and thrombotic thrombocytopenic purpura is rare and triggering. This article describes the poor outcome of a patient with sickle cell/β(+)-thalassemia presenting with gingival bleeding, severe thrombocytopenia and anemia. The patient had normal renal function, no neurological deficit and he was initially treated as immune thrombocytopenic purpura. He eventually died due to multi-organ failure and brain hemorrhage even though he had started plasma exchange sessions. The co-existence of thrombotic thrombocytopenic purpura and sickle cell anemia is making the diagnosis of the former difficult. Early and rapid intervention is critical to the outcome. Copyright © 2014 Elsevier Ltd. All rights reserved.

Clinical comparison of conventional and rare earth screen-film systems for cephalometric radiographs

International Nuclear Information System (INIS)

Kaugars, G.E.; Fatouros, P.

1982-01-01

This study compared cephalometric and P-A skull films taken with conventional (CaWO4) screens and rare earth screens. Patient exposure was reduced by 17 to 55 percent on two different x-ray machines by the use of rare earth screens. Results from 130 clinical evaluations showed that the diagnostic quality of radiographs taken with either system was roughly comparable. This presents a persuasive argument for the use of rare earth screens since the diagnostic quality of the films can be maintained while significantly reducing the patient's exposure to radiation

Micromagnetics of rare-earth efficient permanent magnets

Science.gov (United States)

Fischbacher, Johann; Kovacs, Alexander; Gusenbauer, Markus; Oezelt, Harald; Exl, Lukas; Bance, Simon; Schrefl, Thomas

2018-05-01

The development of permanent magnets containing less or no rare-earth elements is linked to profound knowledge of the coercivity mechanism. Prerequisites for a promising permanent magnet material are a high spontaneous magnetization and a sufficiently high magnetic anisotropy. In addition to the intrinsic magnetic properties the microstructure of the magnet plays a significant role in establishing coercivity. The influence of the microstructure on coercivity, remanence, and energy density product can be understood by using micromagnetic simulations. With advances in computer hardware and numerical methods, hysteresis curves of magnets can be computed quickly so that the simulations can readily provide guidance for the development of permanent magnets. The potential of rare-earth reduced and rare-earth free permanent magnets is investigated using micromagnetic simulations. The results show excellent hard magnetic properties can be achieved in grain boundary engineered NdFeB, rare-earth magnets with a ThMn12 structure, Co-based nano-wires, and L10-FeNi provided that the magnet’s microstructure is optimized.

A Rare Cause of Death in a Woman: Iatrogenic Bladder Rupture in a Patient With an Indwelling Foley Catheter.

Science.gov (United States)

Paul, Anthea B Mahesan; Simms, Lary; Paul, Abraham E; Mahesan, Andrew A; Ramzanali, Ammani

2016-05-01

The CDC estimates that 12-25% of all hospitalized patients receive a urinary catheter during their hospital stay. Foley catheter failure is uncommon and Foley catheter failure associated with iatrogenic urinary bladder rupture (IUBR) is extremely rare. Symptoms are often nonspecific and thus misdiagnosis and delayed treatment is common. In this case report, we present a case of IUBR in a woman from Foley catheter failure, which ultimately led to her demise. This case adds to the literature the importance of suspicion for IUBR in patients with indwelling Foley catheters presenting with lower abdominal pain, hematuria, and decreased urine output.

Contribution of Electronic Medical Records to the Management of Rare Diseases

Directory of Open Access Journals (Sweden)

Dominique Bremond-Gignac

2015-01-01

Full Text Available Purpose. Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients’ data with ophthalmology-specific EMR. Methods. Ophthalmology-specific EMR software (Softalmo software Corilus was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center. Results. A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. Discussion. EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research. Conclusion. Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease.

Rare presentation of acute urinary retention secondary to herpes zoster.

Science.gov (United States)

Ginsberg, P C; Harkaway, R C; Elisco, A J; Rosenthal, B D

1998-09-01

There are many causes of acute urinary retention. Reported here is a case of one of the more rare causes: herpes zoster. Fewer than 70 cases have been reported in the literature since 1890. In the present clinical environment where many patients are immunocompromised, reports of herpes zoster and its sequelae are no longer thought of as anecdotal. The virus may interrupt the detrusor reflex due to involvement of the sacral dorsal root ganglia. Urinary retention with sensory loss of both bladder and rectum as well as flaccid paralysis of the detrusor can develop in patients with herpes zoster. Fortunately, the outcome of this process is benign and full recovery of the detrusor is likely.

Sarcoidosis, Celiac Disease and Deep Venous Thrombosis: a Rare Association

Directory of Open Access Journals (Sweden)

Gökhan Çelik

2011-11-01

Full Text Available Sarcoidosis is a multisystem granulomatous disorder of unknown etiology and it may rarely be associated with a second disorder. Celiac disease is an immune-mediated enteropathy characterized with malabsorption caused by gluten intolerance, and several reports indicate an association between celiac disease and sarcoidosis. In addition, although celiac disease is associated with several extraintestinal pathologies, venous thrombosis has been rarely reported. Herein we present a rare case report of a patient with a diagnosis of sarcoidosis, celiac disease and deep venous thrombosis because of the rare association of these disorders. The patient was admitted with abdominal pain, weight loss, chronic diarrhea and a 5-day history of swelling in her right leg. A diagnosis of deep venous thrombosis was achieved by doppler ultrasonographic examination. The diagnosis of celiac disease was made by biopsy of duodenal mucosa and supported with elevated serum level of anti-gliadin IgA and IgG, and a diagnosis of sarcoidosis was achieved by transbronchial needle aspiration from the subcarinal lymph node during flexible bronchoscopy.

Rare Inferior Shoulder Dislocation (Luxatio Erecta

Directory of Open Access Journals (Sweden)

Hakan Cift

2015-01-01

Full Text Available Although shoulder dislocations have been seen very frequently, inferior dislocation of shoulder constitutes only 0.5% of all shoulder dislocations. We share our 4 patients with luxatio erecta and present their last clinical control. 2 male and 2 female Caucasian patients were diagnosed as luxatio erecta. Patients’ ages were 78, 62, 65, and 76. All patients’ reduction was done by traction-abduction and contour traction maneuver in the operating room. The patients had no symptoms and no limitation of range of motion of their shoulder at their last control. Luxatio erecta is seen rarely, and these patients may have neurovascular injury. These patients should be carefully examined and treated by the orthopaedic and traumatology surgeons.

Pleuroparenchymal Fibroelastosis: A New Entity within the Spectrum of Rare Idiopathic Interstitial Pneumonias

Directory of Open Access Journals (Sweden)

Karina Portillo

2015-01-01

Full Text Available Pleuroparenchymal fibroelastosis (PPFE is a rare entity that has been recently included in the official American Thoracic Society/European Respiratory Society (ATS/ERS statement in 2013 as a group of rare idiopathic interstitial pneumonias (IIPs. PPFE is characterized by pleural and subpleural parenchymal thickening due to elastic fiber proliferation, mainly in the upper lobes. The etiology of the disease is unclear, although some cases have been associated as a complication after bone marrow transplantation, lung transplantation (LT, chemotherapy, and recurrent respiratory infections. The patients usually report progressive dyspnea and dry cough and are predisposed to develop spontaneous or iatrogenic pneumothoraces after surgical lung biopsy (SLB for its diagnosis. That is why better awareness with the clinical and radiologic features can help optimal management by the multidisciplinary team. Novel invasive techniques such as cryobiopsy may become useful tools in these patients as it could spare SLB. We present the first reported cases in Spain.

Gastric Volvulus and Wandering Spleen: A Rare Surgical Emergency

Directory of Open Access Journals (Sweden)

Georgios Lianos

2013-01-01

Full Text Available Gastric volvulus is a rare but potentially life-threatening clinical entity due to possible gastric necrosis. A wandering spleen may also be associated with gastric volvulus. Patients presenting with the triad epigastralgia, vomiting followed by retching, and difficulty or inability to pass a nasogastric tube into the stomach are likely to have gastric volvulus. The operating surgeon should include this rare entity in the differential diagnosis when dealing with a patient with such a clinical profile. Herein, we present a case of gastric volvulus associated with a wandering spleen in a 28-year-old Caucasian woman and we provide a brief review of the literature on this issue.

Rare earth germanates

International Nuclear Information System (INIS)

Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

1983-01-01

Rare earth germanates attract close attention both as an independent class of compounds and analogues of a widely spread class of natural and synthetic minerals. The methods of rare earth germanate synthesis (solid-phase, hydrothermal) are considered. Systems on the basis of germanium and rare earth oxides, phase diagrams, phase transformations are studied. Using different chemical analysese the processes of rare earth germanate formation are investigated. IR spectra of alkali and rare earth metal germanates are presented, their comparative analysis being carried out. Crystal structures of the compounds, lattice parameters are studied. Fields of possible application of rare earth germanates are shown

Enzymatic determination of rare earth elements using pyrophosphatases

International Nuclear Information System (INIS)

Shekhovtsova, T.N.; Pirogova, S.V.; Fedorova, O.M.; Dolmanova, I.F.; Bajkov, A.A.

1993-01-01

A highly sensitive(determination limit 8x10 -6 -4x10 -4 μ g/m) and selective enzymatic method for determination of rare earth elements has been developed. The method is based on inhibition action of rare earths on the catalytic activity of pyrophosphates isolated from bakery geast and E.Coli. The mechanism of the rare earth element action, corresponding to competitive inhibition, has been established

Challenges in orphan drug development and regulatory policy in China.

Science.gov (United States)

Cheng, Alice; Xie, Zhi

2017-01-18

While regulatory policy is well defined for orphan drug development in the United States and Europe, rare disease policy in China is still evolving. Many Chinese patients currently pay out of pocket for international treatments that are not yet approved in China. The lack of a clear definition and therefore regulatory approval process for rare diseases has, until now, de-incentivized pharmaceutical companies to pursue rare disease drug development in China. In turn, many grassroots movements have begun to support rare disease patients and facilitate drug discovery through research. Recently, the Chinese FDA set new regulatory guidelines for drugs being developed in China, including an expedited review process for life-saving treatments. In this review, we discuss the effects of these new policy changes on and suggest potential solutions to innovate orphan drug development in China.

Adapting Knowledge Translation Strategies for Rare Rheumatic Diseases.

Science.gov (United States)

Cellucci, Tania; Lee, Shirley; Webster, Fiona

2016-08-01

Rare rheumatic diseases present unique challenges to knowledge translation (KT) researchers. There is often an urgent need to transfer knowledge from research findings into clinical practice to facilitate earlier diagnosis and better outcomes. However, existing KT frameworks have not addressed the specific considerations surrounding rare diseases for which gold standard evidence is not available. Several widely adopted models provide guidance for processes and problems associated with KT. However, they do not address issues surrounding creation or synthesis of knowledge for rare diseases. Additional problems relate to lack of awareness or experience in intended knowledge users, low motivation, and potential barriers to changing practice or policy. Strategies to address the challenges of KT for rare rheumatic diseases include considering different levels of evidence available, linking knowledge creation and transfer directly, incorporating patient and physician advocacy efforts to generate awareness of conditions, and selecting strategies to address barriers to practice or policy change.

Rare Complications of Cervical Spine Surgery: Horner’s Syndrome

Science.gov (United States)

Malone, Hani R.; Smith, Zachary A.; Hsu, Wellington K.; Kanter, Adam S.; Qureshi, Sheeraz A.; Cho, Samuel K.; Baird, Evan O.; Isaacs, Robert E.; Rahman, Ra’Kerry K.; Polevaya, Galina; Smith, Justin S.; Shaffrey, Christopher; Tortolani, P. Justin; Stroh, D. Alex; Arnold, Paul M.; Fehlings, Michael G.; Mroz, Thomas E.; Riew, K. Daniel

2017-01-01

Study Design: A multicenter retrospective case series. Objective: Horner’s syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner’s syndrome, a multicenter study was performed to review a large collective experience with this rare complication. Methods: We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network. Medical records for 17 625 patients who received subaxial cervical spine surgery from 2005 to 2011 were reviewed to identify occurrence of 21 predefined treatment complications. Descriptive statistics were provided for baseline patient characteristics. Paired t test was used to analyze changes in clinical outcomes at follow-up compared to preoperative status. Results: In total, 8887 patients who underwent anterior cervical spine surgery at the participating institutions were screened. Postoperative Horner’s syndrome was identified in 5 (0.06%) patients. All patients experienced the complication following anterior cervical discectomy and fusion. The sympathetic trunk appeared to be more vulnerable when operating on midcervical levels (C5, C6), and most patients experienced at least a partial recovery without further treatment. Conclusions: This collective experience suggests that Horner’s syndrome is an exceedingly rare complication following anterior cervical spine surgery. Injury to the sympathetic trunk may be limited by maintaining a midline surgical trajectory when possible, and performing careful dissection and retraction of the longus colli muscle when lateral exposure is necessary, especially at caudal cervical levels. PMID:28451480

Cardiac arrest following ventilator fire: A rare cause

Directory of Open Access Journals (Sweden)

K Nazeer Ahmed

2012-01-01

Full Text Available Operating room fires are rare events, but when occur they result in serious and sometimes fatal consequences. Anaesthesia ventilator fire leading to cardiac arrest is a rare incident and has not been reported. We report a near catastrophic ventilator fire leading to cardiac arrest in a patient undergoing subtotal thyroidectomy. In the present case sparks due to friction or electrical short circuit within the ventilator might have acted as source of ignition leading to fire and explosion in the oxygen rich environment. The patient was successfully resuscitated and revived with uneventful recovery and no adverse sequelae. The cardiac arrest was possibly due to severe hypoxia resulting from inhalation of smoke containing high concentrations of carbon monoxide and other noxious gases.

Paraperesis: A rare complication after depressed skull fracture ...

African Journals Online (AJOL)

Paraperesis: A rare complication after depressed skull fracture. ... presentations, but midline depressed skull fracture presenting as motor weakness of both lower ... Patient was managed conservatively, made remarkable recovery and was ...

Preventing gatekeeping delays in the diagnosis of rare diseases

NARCIS (Netherlands)

de Vries, E.; Fransen, L.; van den Aker, M.; Meijboom, B.R.

2018-01-01

GPs acting as gatekeepers render a healthcare system easily accessible as well as affordable. However, gatekeeping can have an important drawback: it may hamper timely diagnosis and treatment of patients suffering from a rare disease (incidence <1:2000),1 especially if patients present with common

Two rare cases of Epstein-Barr virus-associated lymphoproliferative disorders in inflammatory bowel disease patients on thiopurines and other immunosuppressive medications.

Science.gov (United States)

Subramaniam, K; Cherian, M; Jain, S; Latimer, M; Corbett, M; D'Rozario, J; Pavli, P

2013-12-01

The setting of chronic immunosuppression in inflammatory bowel disease (IBD) may promote the proliferation of Epstein-Barr virus-positive neoplastic clones. We report two rare cases of Epstein-Barr virus-associated lymphoproliferative disorder in IBD patients: one resembled lymphomatoid granulomatosis, and the other was a lymphoma resembling Hodgkin lymphoma. There are currently no guidelines for the prevention of lymphoproliferative disorder in IBD patients on immunosuppressive therapy. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

Headache associated with airplane travel: a rare entity.

Science.gov (United States)

Cherian, Ajith; Mathew, Mini; Iype, Thomas; Sandeep, P; Jabeen, Afshan; Ayyappan, K

2013-01-01

Airplane travel headache is rare and has recently been described as a new form of headache associated with a specific situation. Of the 1,208 patients with primary headaches attending a tertiary care neurology hospital, two (0.16%) patients satisfied the criteria for headache related to airplane travel. Both the patients fulfilled the proposed diagnostic criteria for airplane travel headache. This unique headache had a mean duration of 24 minutes, localized to the medial supraorbital region described as having an intense jabbing or stabbing character that occurred exclusively and maximally during aircraft landing or take-off, following which pain intensity subsided . This rare headache felt on aircraft descent is probably due to the squeeze effect on the frontal sinus wall, when air trapped inside it contracts producing a negative pressure leading to mucosal edema, transudation and intense pain. Use of nasal decongestants either alone or in combination with naproxen sodium prior to ascent and descent abated the headache episodes. Awareness about this unique entity is essential to provide proper treatment and avoid patient suffering.

Carcinoma of the tongue in a renal transplant recipient: A rare post-transplant malignancy

Directory of Open Access Journals (Sweden)

Jai Prakash

2015-01-01

Full Text Available Current immunosuppression improved long-term outcome of transplant patients, but it also increased the incidence of de novo malignancy. Organ transplant recipients have a threeto four-fold increased risk of developing carcinoma in comparison with the general population. Common malignancies encountered after transplantation include cancer of the skin, lips, post-transplant lymphoproliferative disease, ano-genital carcinoma and Kaposi sarcoma. Squamous cell carcinoma of the tongue is very rare. We report here a case of squamous cell carcinoma of the tongue in an adult male patient who developed it 11 years post-transplant. He underwent right hemiglossectomy and his graft function remained stable.

Rhodotorula Keratitis: A Rarely Encountered Ocular Pathogen

Science.gov (United States)

Giovannini, Joseph; Lee, Rick; Zhang, Sean X.; Jun, Albert S.; Bower, Kraig S.

2014-01-01

Purpose To describe a case of fungal keratitis involving an atypical organism with confirmatory in vivo confocal microscopy and to review the literature on Rhodotorula keratitis. Methods Case report and review of the medical literature. Results A 22-year-old college student was struck in the left eye with a tree branch and subsequently developed pain, redness and photophobia. Upon presentation, visual acuity was 20/200 and there was a large epithelial defect with diffuse stromal inflammation involving the anterior one-third of the cornea. Cultures of the infiltrate were performed for bacterial, viral and fungal organisms that resulted in a positive culture for Rhodotorula mucilaginosa. Fungal elements were confirmed in vivo by confocal microscopy. The patient was treated with voriconazole initially and had amphotericin added once Rhodotorula infection was confirmed. The patient responded well clinically, and one month after therapy was initiated, the corneal infiltrate had resolved leaving mild anterior stromal haze. Upon completion of therapy at three months, the patient was asymptomatic, had a clear cornea and had a best corrected visual acuity of 20/20 in the involved eye. There was no measurable change in his manifest refraction. Conclusions Prior cases of Rhodotorula keratitis most often required surgical intervention and were associated with poor outcomes. This case shows that Rhodotorula keratitis can be successfully treated with topical antifungal agents if diagnosed early and appropriate treatment is initiated promptly. We report the first case of Rhodotorula keratitis confirmed by in vivo confocal microscopy. This is also the first description of pseudomycelium formation that has not been previously described in vivo, a morphological structure that this organism rarely demonstrates. Finally, this case shows that confocal microscopy may aid in the early diagnosis and management of fungal keratitis involving this rare but potentially damaging organism. PMID

[Tomato peel: rare cause of biliary tract obstruction].

Science.gov (United States)

Hagymási, Krisztina; Péter, Zoltán; Csöregh, Eva; Szabó, Emese; Tulassay, Zsolt

2011-11-20

Foreign bodies in the biliary tree are rare causes of obstructive jaundice. Food bezoars are infrequent as well. They can cause biliary obstruction after biliary tract interventions, or in the presence of biliary-bowel fistula or duodenum diverticulum. Food bezoars usually pass the gastrointestinal tract without any symptoms, but they can cause abdominal pain and obstructive jaundice in the case of biliary tract obstruction. Endoscopic retrograde cholangio-pancreatography has the major role in the diagnosis and the treatment of the disease. Authors summarize the medical history of a 91-year-old female patient, who developed vomiting and right subcostal pain due to the presence of tomato peel within the ductus choledochus.

Adult onset still's disease; a rare disease in Nigeria? | Ohagwu ...

African Journals Online (AJOL)

This is to highlight the fact that the disease while rare, requires a high index of suspicion for diagnosis. Both patients were males. The ages of the patients were 19 and 62 years. Both patients had high grade fever, symmetrical inflammatory polyarthritis and weight loss. The first patient had sore throat. On examination, both ...

Reducing selection bias in case-control studies from rare disease registries.

Science.gov (United States)

Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

2011-09-12

In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

Distinguishing a Rare Variant of Lipidized Dermatofibroma from Nonlipidized Dermatofibromas in a Patient with Hypothyroidism and Alopecia Areata

Directory of Open Access Journals (Sweden)

Abdulla Farah

2017-06-01

Full Text Available Introduction. Lipidized dermatofibromas represent rare and often underrecognized variants of dermatofibromas. Histologically, dermatofibromas are composed of fibroblast-like spindle cells, foam cells, giant cells, siderophages, lymphocytes, capillaries, collagen fibers, and hyaline dermal collagen fibers. Lipidized dermatofibromas are characterized by numerous foam cells, Touton giant cells, and hyalinized wiry collagen in the stroma. Case report. We present a case of a 31-year-old woman with a history of hypothyroidism and alopecia areata, presenting with an enlarging 8 mm, firm erythematous nodule on her upper-mid back. Biopsy examination showed a cellular proliferation of spindle cells with peripheral collagen trapping and cholesterol clefts with associated foam cells and sclerosis, staining weakly positive for Factor XIIIa and negative for CD34. The diagnosis of a benign lipidized dermatofibroma was rendered. Conclusion. Lipidized dermatofibromas are rare histologic variants of dermatofibromas, biologically indolent, and should be distinguished from other cutaneous foamy histiocytic lesions, particularly xanthomas, which may alter patient management.

A Rare Case of Cavitary Lesion of the Lung Caused by Mycoplasma pneumoniae in an Immunocompetent Patient

Directory of Open Access Journals (Sweden)

Muhammad Kashif

2017-01-01

Full Text Available Mycoplasma pneumoniae is an atypical bacterium that most commonly causes upper respiratory tract infections, but it can also cause pneumonia, referred to as “walking pneumonia.” Although cavitary lesions are present in a wide variety of infectious and noninfectious processes, those attributable to M. pneumoniae are extremely uncommon; thus, to date, epidemiological studies are lacking. Here, we present a rare case of a 20-year-old male, referred to us from a psychiatric facility for evaluation of a cough, who was found to have a cavitary lesion in the right upper lobe. An extensive workup for cavitary lesion was negative, but his mycoplasma IgM level was high. A computed tomography (CT of the chest confirmed the presence of a cavitary lesion. After treatment with levofloxacin antibiotics, a follow-up CT showed complete resolution of the lesion. Our case is a rare presentation of mycoplasma pneumonia as a cavitary lesion in a patient without any known risk factors predisposing to mycoplasma infection. Early recognition and treatment with an appropriate antibiotic may lead to complete resolution of the cavitary lesion.

Heavy rare earths, permanent magnets, and renewable energies: An imminent crisis

International Nuclear Information System (INIS)

Smith Stegen, Karen

2015-01-01

This article sounds the alarm that a significant build-out of efficient lighting and renewable energy technologies may be endangered by shortages of rare earths and rare earth permanent magnets. At the moment, China is the predominant supplier of both and its recent rare earth industrial policies combined with its own growing demand for rare earths have caused widespread concern. To diversify supplies, new mining—outside of China—is needed. But what many observers of the “rare earth problem” overlook is that China also dominates in (1) the processing of rare earths, particularly the less abundant heavy rare earths, and (2) the supply chains for permanent magnets. Heavy rare earths and permanent magnets are critical for many renewable energy technologies, and it will require decades to develop new non-Chinese deposits, processing capacity, and supply chains. This article clarifies several misconceptions, evaluates frequently proposed solutions, and urges policy makers outside of China to undertake measures to avert a crisis, such as greater support for research and development and for the cultivation of intellectual capital. - Highlights: • Rare earths are needed for many efficient lighting and renewable energy technologies. • The industries for rare earths and permanent magnets are dominated by China. • China's reliability is compromised, necessitating non-Chinese mining and processing. • Recycling, substitution and reducing rare earth content are long-term solutions only. • Policy makers should support development of supply chains and intellectual capital

Severe loin pain following renal biopsy in a high-risk patient: A case report of a rare combination of pseudoaneurysm and arterio-venous fistula

Directory of Open Access Journals (Sweden)

Desai Madhav

2011-01-01

Full Text Available We report a 50-year-old male patient with diabetes mellitus and hypertension who presented with low-grade fever, anuria and renal failure. He had no prior history of nephropathy and retinopathy. Since anuria persisted, a renal biopsy was performed using automated gun, under ultrasound guidance. Two hours after the renal biopsy was performed, the patient developed severe left loin pain that required analgesics and sedatives. Ultrasound of the abdomen performed immediately, two hours and four hours after the biopsy, did not reveal any hematoma. The hemoglobin was stable when the patient developed loin pain, but after eight hours decreased to 9.1 g/dL, and computed tomography scan of the abdomen revealed a big peri-nephric hematoma around the left kidney. He was managed with blood transfusions and a selective angiogram was done. It revealed a pseudoaneurysm and arterio-venous fistula from the segmental artery of lower pole of the left kidney; both were closed by using microcoils and liquid embolic agent N-butyl-cyanoacrylate (NBCA. The only risk factor the patient had at the time of renal biopsy was severe renal failure. Our case suggests that severe loin pain immediately after renal biopsy in a patient with renal failure warrants careful follow-up of hemoglobin and imaging, even if initial imaging is normal. Further fall of hemoglobin necessitates early evaluation with angiogram, which helps in diagnosing the treatable, although rare, complications like pseudoaneurysm and arterio-venous fistula.

Rare (Earth Elements [score

Directory of Open Access Journals (Sweden)

Camilo Méndez

2014-12-01

Full Text Available Rare (Earth Elements is a cycle of works for solo piano. The cycle was inspired by James Dillon’s Book of Elements (Vol. I-V. The complete cycle will consist of 14 pieces; one for each selected rare (earth element. The chosen elements are Neodymium, Erbium, Tellurium, Hafnium, Tantalum, Technetium, Indium, Dysprosium, Lanthanium, Cerium, Europium, Terbium, Yttrium and Darmstadtium. These elements were selected due to their special atomic properties that in many cases make them extremely valuable for the development of new technologies, and also because of their scarcity. To date, only 4 works have been completed Yttrium, Technetium, Indium and Tellurium.

A Rare Cause of Testicular Metastasis: Upper Tract Urothelial Carcinoma

Directory of Open Access Journals (Sweden)

Alper Nesip Manav

2014-01-01

Full Text Available Metastatic testicular cancers are rare. Primary tumor sources are prostate, lung, and gastrointestinal tract for metastatic testicular cancers. Metastasis of urothelial carcinoma (UC to the testis is extremely rare. Two-thirds of upper tract urothelial carcinoma (UTUC is of invasive stage at diagnosis and metastatic sites are the pelvic lymph nodes, liver, lung, and bone. We report a rare case of metastatic UTUC to the testis which has not been reported before, except one case in the literature. Testicular metastasis of UC should be considered in patients with hematuria and testicular swelling.

Isolated Asymptomatic Metastasis in the Myocardium: A Rare Scenario in Case of Carcinoma Penis

Directory of Open Access Journals (Sweden)

Santosh Kumar

2015-01-01

Full Text Available Penile cancer is a common malignancy in developing countries. It commonly metastasizes to the lymph nodes, lung, liver, and bones. Myocardial metastasis is rare. A 40-year-old male patient presented with ulcerative growth over glans penis. Histologic evaluation of the biopsy sample diagnosed the lesion as squamous cell cancer. Assessment of the stage of the disease revealed cardiac metastasis. Patient received six cycles of chemotherapy. He partially responded, but later succumbed to cardiac failure due to pericardial and pleural effusion.

Rare Case of Male Breast Cancer and Axillary Lymphoma in the Same Patient: An Unique Case Report

Directory of Open Access Journals (Sweden)

Emiliano Sordi

2011-01-01

Full Text Available Breast cancer in men is uncommon, and even more rare is the simultaneous presentation of two different malignancies. A 39-year-old man was diagnosed with both breast cancer and axillary lymphoma. Familiar history revealed that his mother died because of breast cancer. The patient underwent fine needle aspiration leading to the diagnosis of malignant lesion. Modified radical mastectomy was performed. Histology revealed an infiltrating ductal carcinoma 2.8 cm wide, grade 2, with vascular and lymphatic invasion. Surprisingly, one of the second level nodes was confirmed as a high-grade large B cell non-Hodgkin's lymphoma. No family inheritance or gene mutations (BRCA 1 and 2 were found. The patient underwent local radiotherapy, followed by 6 chemotherapy courses (RCHOP and treatment with tamoxifen 20 mg/daily. To our knowledge, this is the first case reported in literature of male breast cancer and axillary lymphoma simultaneously confirmed in the same patient.

Primary cervical leiomyoma: A rare cause of a posterior neck mass in a pediatric patient.

Science.gov (United States)

Oliver, Jeremie D; Anzalone, C Lane; Balakrishnan, Karthik

2018-01-01

A 13-year-old male presents for evaluation of a right-sided posterolateral neck mass, first noted four years prior to presentation; incisional biopsy two years ago suggested a benign lymph node. Recent growth and increased pain prompted referral to our tertiary care center. MR imaging revealed a densely calcified mass in the right posterior paraspinous muscles with intense enhancement with gadolinium contrast, approximately 5 cm × 2.8 cm x 4.6 cm. Incisional biopsy showed leiomyoma with extensive dystrophic calcifications. This case describes a rare finding of extraesophageal leiomyoma of the neck; this is only the second such case reported in a pediatric patient. Copyright © 2017 Elsevier B.V. All rights reserved.

Tuberculous osteomyelitis affecting periodontium: A rare case report

Directory of Open Access Journals (Sweden)

Gaurav Bakutra

2015-01-01

Full Text Available Tuberculous lesions affecting periodontium are rare and seen as secondary infections localized to the soft tissues. With the advent of effective drug therapy, tuberculous lesions of the oral cavity have become rare. Involvement of the periodontium has seldomly been reported in the recent literature. We report a case of tuberculous osteomyelitis of mandible affecting periodontium leading to gingival recession and bone exposure in the mandibular premolar region in a 42-year-old female patient. The diagnosis was based on patient's medical and dental history, bacterial culture, clinical and radiographic examination, blood investigation, immunologic tests, histopathologic examination of the tissue specimen. Patient was already taking antitubercular chemotherapy prescribed by physician. Sequestrectomy and decortications were carried out to remove the affected bone. Healing was uneventful and there was no recurrence after 1½ year of follow-up. Antitubercular chemotherapy along with sequestrectomy and decortication are the treatment of choice for tuberculous osteomyelitic lesions affecting periodontium.

ABCA7 rare variants and Alzheimer disease risk.

Science.gov (United States)

Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Amouyel, Philippe; Munter, Hans Markus; Bourque, Guillaume; Lathrop, Mark; Frebourg, Thierry; Redon, Richard; Letenneur, Luc; Dartigues, Jean-François; Pasquier, Florence; Rollin-Sillaire, Adeline; Génin, Emmanuelle; Lambert, Jean-Charles; Hannequin, Didier; Campion, Dominique

2016-06-07

To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants. © 2016 American Academy of Neurology.

Patient-Reported Outcomes in Cancer Drug Development and US Regulatory Review: Perspectives From Industry, the Food and Drug Administration, and the Patient.

Science.gov (United States)

Basch, Ethan; Geoghegan, Cindy; Coons, Stephen Joel; Gnanasakthy, Ari; Slagle, Ashley F; Papadopoulos, Elektra J; Kluetz, Paul G

2015-06-01

Data reported directly by patients about how they feel and function are rarely included in oncology drug labeling in the United States, in contrast to Europe and to nononcology labeling in the United States, where this practice is more common. Multiple barriers exist, including challenges unique to oncology trials, and industry's concerns regarding cost, logistical complexities, and the Food and Drug Administration's (FDA's) rigorous application of its 2009 guidance on the use of patient-reported outcome (PRO) measures. A panel consisting of representatives of industry, FDA, the PRO Consortium, clinicians, and patients was assembled at a 2014 workshop cosponsored by FDA to identify practical recommendations for overcoming these barriers. Key recommendations included increasing proactive encouragement by FDA to clinical trial sponsors for including PROs in drug development programs; provision of comprehensive PRO plans by sponsors to FDA early in drug development; promotion of an oncology-specific PRO research agenda; development of an approach to existing ("legacy") PRO measures, when appropriate (focused initially on symptoms and functional status); and increased FDA and industry training in PRO methodology. FDA has begun implementing several of these recommendations.

Primary Adult Renal Ewing's Sarcoma: A Rare Entity

Science.gov (United States)

Mukkunda, Ravindra; Venkitaraman, Ramachandran; Thway, Khin; Min, Toon; Fisher, Cyril; Horwich, Alan; Judson, Ian

2009-01-01

Background. Ewing's sarcoma of extraskeletal origin is uncommon and that is of primary renal origin in adults are rare. There is no consensus on the optimal management of Ewing's tumors of renal origin. Methods. A retrospective review of the clinical features, treatment, and outcome of adult patients with primary renal extra-skeletal Ewing's sarcoma who were treated at the Royal Marsden hospital from January 1993–December 2007 is reported. Results. Seven adult patients with primary renal Ewing's sarcoma were identified. All four patients with nonmetastatic disease had radical nephrectomy and received adjuvant chemotherapy +/− radiotherapy. Two developed metastatic disease while on adjuvant chemotherapy, and one patient relapsed after 55 months. The three patients with metastatic disease at presentation did not have nephrectomy and were treated with chemotherapy. All three patients had disease progression with a dismal outcome. Only one patient in the whole group is alive and disease free. The median overall survival was 62.8 months, and the median disease-free survival in patients with nonmetastatic disease after combined modality treatment was 30.3 months. Conclusion. Primary adult renal Ewing's sarcoma is an aggressive tumor with a propensity for early metastasis. Radical nephrectomy with adjuvant combination chemotherapy produced the best results but the outlook remained poor with only one patient experiencing long disease-free survival. PMID:19478963

Primary Adult Renal Ewing's Sarcoma: A Rare Entity

Directory of Open Access Journals (Sweden)

Ravindra Mukkunda

2009-01-01

Full Text Available Background. Ewing's sarcoma of extraskeletal origin is uncommon and that is of primary renal origin in adults are rare. There is no consensus on the optimal management of Ewing's tumors of renal origin. Methods. A retrospective review of the clinical features, treatment, and outcome of adult patients with primary renal extra-skeletal Ewing's sarcoma who were treated at the Royal Marsden hospital from January 1993–December 2007 is reported. Results. Seven adult patients with primary renal Ewing's sarcoma were identified. All four patients with nonmetastatic disease had radical nephrectomy and received adjuvant chemotherapy +/− radiotherapy. Two developed metastatic disease while on adjuvant chemotherapy, and one patient relapsed after 55 months. The three patients with metastatic disease at presentation did not have nephrectomy and were treated with chemotherapy. All three patients had disease progression with a dismal outcome. Only one patient in the whole group is alive and disease free. The median overall survival was 62.8 months, and the median disease-free survival in patients with nonmetastatic disease after combined modality treatment was 30.3 months. Conclusion. Primary adult renal Ewing's sarcoma is an aggressive tumor with a propensity for early metastasis. Radical nephrectomy with adjuvant combination chemotherapy produced the best results but the outlook remained poor with only one patient experiencing long disease-free survival.

Fournier gangrene: rare complication of rectal cancer.

Science.gov (United States)

Ossibi, Pierlesky Elion; Souiki, Tarik; Ibn Majdoub, Karim; Toughrai, Imane; Laalim, Said Ait; Mazaz, Khalid; Tenkorang, Somuah; Farih, My Hassan

2015-01-01

Fournier's Gangrene is a rare complication of rectal cancer. Its discovery is often delayed. It's incidence is about 0.3/100,000 populations in Western countries. We report a patient with peritoneal perforation of rectal cancer revealed by scrotal and perineal necrotizing fasciitis.

A Rare Cause of Hyperamylasemia: Macroamylasemia

Directory of Open Access Journals (Sweden)

Adil Coşkun

2017-04-01

Full Text Available Elevated serum amylase activity is commonly seen in acute pancreatitis and salivary gland inflammation, but also rarely seen in a benign phenomenon, macroamylasemia, that does not require treatment. Hyperamylasemia is a laboratory finding that may cause diagnostic failure occasionally in patients presenting with abdominal pain. Elevated serum amylase levels and abdominal pain may lead to misdiagnosis as acute pancreatitis in macroamylasemic patients. Macroamylasemia should be considered in patients with abdominal pain and hyperamylasemia but without imaging findings of pancreatitis. Here, we present a patient with macroamylasemia who had abdominal pain and persistent hyperamylasemia. The patient had no complaints but persisting hyperamylasemia (450 U/L and normal lipase activity at the follow-up outpatient visit three months later.

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example.

Science.gov (United States)

Black, Angela P; Baker, Marie

2011-04-01

The development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, not only in the way rare diseases are diagnosed, studied, and treated, but also in how they are addressed at the level of legislation and public policy. The International Dravet syndrome Epilepsy Action League (IDEA League) is the leading patient advocacy organization for Dravet syndrome and related genetic ion-channel epilepsy disorders (hereafter referred to as Dravet syndrome or severe myoclonic epilepsy of infancy, SMEI). The IDEA League's mission encompasses international support and outreach for patients and families, as well as collaboration with physicians, medical education, health care coordination, and research. The IDEA League is an excellent example of the impact of patient advocacy groups, the Internet, and social networking on the landscape of rare diseases. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Health Systems Sustainability and Rare Diseases.

Science.gov (United States)

Ferrelli, Rita Maria; De Santis, Marta; Egle Gentile, Amalia; Taruscio, Domenica

2017-01-01

The paper is addressing aspects of health system sustainability for rare diseases in relation to the current economic crisis and equity concerns. It takes into account the results of the narrative review carried out in the framework of the Joint Action for Rare Diseases (Joint RD-Action) "Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases", that identified networks as key factors for health systems sustainability for rare diseases. The legal framework of European Reference Networks and their added value is also presented. Networks play a relevant role for health systems sustainability, since they are based upon, pay special attention to and can intervene on health systems knowledge development, partnership, organizational structure, resources, leadership and governance. Moreover, sustainability of health systems can not be separated from the analysis of the context and the action on it, including fiscal equity. As a result of the financial crisis of 2008, cuts of public health-care budgets jeopardized health equity, since the least wealthy suffered from the greatest health effects. Moreover, austerity policies affected economic growth much more adversely than previously believed. Therefore, reducing public health expenditure not only is going to jeopardise citizens' health, but also to hamper fair and sustainable development.

Research on economy and social exclusion: China dolls and rare diseases.

Science.gov (United States)

Matsui, Akihiko

2013-02-01

The second workshop on "Research on Economy And Social Exclusion (REASE)" was held in the University of Tokyo on January 26, 2013. Focusing on rare diseases and disorders in China, three speakers from China introduced the current status of rare diseases and the challenge of support organizations for patients with rare disease and disorders in China, and especially pointed out some important issues associated with rare diseases and disorders in China. From the viewpoint of economics, this paper discusses some of the important issues of rare diseases and disorders in China raised in this workshop, especially from the aspects of economy of scale and orphan drugs, and the emergence of stigma from discrimination. It was shown that international coordination and cooperation are called for in order to give a proper incentive to the drug industries to create new drugs for rare diseases, and suggested that an important step toward inclusion is to reduce stigma by making rare diseases visible as much as possible.

A Rare Case of Aneurysmal Bone Cyst in the Paranasal Sinus

Directory of Open Access Journals (Sweden)

Seyyed Mostafa Hashemi

2015-09-01

Full Text Available Introduction: Aneurysmal Bone cysts (ABC are extremely rare in the head and neck region and even rarer in sinuses.  ABC is a benign multicystic mass that is locally-destructive and rapidly expandable. Hemorrhagic fluid content (like in this case and septated appearance are the characteristic feature of ABC. Established treatment options for ABCs include sclerotherapy, embolization, radiotherapy, simple curettage, surgical excision, or a combination of methods.   Case Report: In this article, a 5 year-old boy with a recurrent nasal mass is presented. The patient was finally diagnosed with this rare entity: ABC of the paranasal sinuses. The patient was treated through complete surgical removal.   Conclusion:  ABC can be considered as a rare differential diagnosis of recurrent nasal hemorrhagic mass in a pediatric population.

Separation of rare earths by liquid-liquid extraction

International Nuclear Information System (INIS)

Helgorsky, M.; Leveque, M.

1978-01-01

The elements of the rare earth family are characterised by very similar chemical properties connected with their special electronic structure. The purification of the rare earths sold by RHONE-POULENC is now done by the liquid-liquid extraction technique. The development of different extracting agents and also counter-current techniques have led to solvent extraction replacing the other fractionation techniques because of its efficiency and low cost. There are usually several possible solutions to the main problem of choosing the extracting agent and its mode of use. The difficulty is to find the most economical one taking account of the thermodynamic and hydrodynamic constraints of the solvent. It is shown how ideas about the separation have changed over the course of the development of the uses of the rare earths, ending finally in an integrated scheme that makes RHONE-POULENC a world leader of manufacturers of separated rare earths [fr

Nephrotic Syndrome in a Child Suffering from Tetralogy of Fallot: A Rare Association

Directory of Open Access Journals (Sweden)

Pépé Mfutu Ekulu

2015-01-01

Full Text Available Nephrotic syndrome is an uncommon complication of tetralogy of Fallot and has been rarely reported in pediatric population. We describe a 4-year-old female Congolese child who was referred for investigation for persistent dyspnea, edema, and cyanosis and nephrotic range proteinuria. Our patient presented with a tetralogy of Fallot and nephrotic syndrome. Conclusion. This case reminds us that children with tetralogy of Fallot may develop nephrotic proteinuria.

Spontaneous successful pregnancy in posthypophysectomy hypopituitarism: A rare case report

Directory of Open Access Journals (Sweden)

Indu Lata

2014-01-01

Full Text Available Pregnancy in patients with pan-hypopituitarism following surgery of pituitary adenoma is rare and considered high risk. Hormonal dysfunction in these patients involves more than one axis (gonadotrophic, thyroidal, and adrenal. However, advance in infertility treatment have led to the increased pregnancy rate in hypopituitarism women. We present a case of nonfunctioning pituitary macroadenoma, who after pituitary surgery (hypophysectomy developed hypopituitarism followed by multiple tuberculoma brain with hydrocephalus with arachnoiditis. She conceived spontaneously after 9 years of pituitary surgery and carried her pregnancy to the term. Elective caesarean section was done at 38 weeks and both infant and mother are well. The case highlights the rarity of the phenomenon and the safe outcome of the pregnancy with proper replacement.

A rare case of primary gastric plasmacytoma: An unforeseen surprise

Directory of Open Access Journals (Sweden)

Krishnamoorthy Navin

2010-01-01

Full Text Available Primary plasmacytoma of the gastrointestinal tract is a rare entity. We report a case of a primary gastric plasmacytoma in a 57-year-old man who presented with upper-gastrointestinal bleeding. Endoscopy showed a nodular gastric mass with central umblication. Histological examination of the gastrectomy specimen revealed a monoclonal lambda-chain extramedullary plasmacytoma. Further staging was found to be negative for multiple myeloma. As other more common pathologic processes at this site may also be endowed with numerous plasma cells, awareness of this entity and distinction using immunohistochemistry are extremely crucial. Because systemic disease ultimately develops in many patients with localized plasmacytoma, such patients should be followed closely for the appearance of clinical, biochemical, and roentgenologic evidence of multiple myeloma.

Recommendations for centres of expertise in rare anaemias. The ENERCA White Book

OpenAIRE

Joan-Lluis Vives Corrons; María del Mar Mañú Pereira; Carlos Romeo-Casabona; Pilar Nicolás; Béatrice Gulbis; Androulla Eleftheriou; Michael Angastiniotis; Patricia Aguilar Martínez; Paola Bianchi; Richard Van Wijk; Hermann Heimpel; Barbara De la Salle; Andrea Mosca

2014-01-01

The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare...

[A rare cause of optic neuropathy: Cassava].

Science.gov (United States)

Zeboulon, P; Vignal-Clermont, C; Baudouin, C; Labbé, A

2016-06-01

Cassava root is a staple food for almost 500 million people worldwide. Excessive consumption of it is a rare cause of optic neuropathy. Ten patients diagnosed with cassava root related optic neuropathy were included in this retrospective study. Diagnostic criteria were a bilateral optic neuropathy preceded by significant cassava root consumption. Differential diagnoses were excluded through a neuro-ophthalmic examination, blood tests and a brain MRI. All patients had visual field examination and OCT retinal nerve fiber layer (RNFL) analysis as well as an evaluation of their cassava consumption. All patients had a bilateral optic nerve head atrophy or pallor predominantly located into the temporal sector. Visual field defects consisted of a central or cecocentral scotoma for all patients. RNFL showed lower values only in the temporal sector. Mean duration of cassava consumption prior to the appearance of visual symptoms was 22.7±11.2 years with a mean of 2.57±0.53 cassava-based meals per week. Cassava related optic neuropathy is possibly due to its high cyanide content and enabled by a specific amino-acid deficiency. Cassava root chronic consumption is a rare, underappreciated cause of optic neuropathy and its exact mechanism is still uncertain. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease.

Directory of Open Access Journals (Sweden)

Xiaojing Zheng

Full Text Available Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer's disease (AD+P share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652 was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46% was similar to that reported previously in schizophrenia (0.46%. This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ, and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis.

Splenic abscess: a rare presentation

Directory of Open Access Journals (Sweden)

Mohit Bhatia

2015-01-01

Full Text Available Splenic abscess is a rare clinical entity with an incidence of 0.2-0.7% in autopsy-based studies. When untreated, splenic abscess is associated with nearly 100% mortality; in treated patients, the mortality rate is 16.6% during the first 90 days. It mostly occurs in patients with neoplasia, immunodeficiency, trauma, diabetes or splenic infarct. The incidence of splenic abscess is thought to be growing because of the increase in the number of immunocompromised patients who are particularly at risk for this disease and also because of the widespread use of diagnostic modalities. However, the optimal treatment for this remains unclear. We present a case of a 42-year-old man diagnosed with multiloculated splenic abscess and was subjected to splenectomy.

Rare Infratentorial and Supratentorial Localization of Juvenile Angiofibroma: A Case Report.

Science.gov (United States)

Pašalić, Ivan; Trninić, Ines; Nemir, Jakob; Jednačak, Hrvoje; Žarković, Kamelija; Mrak, Goran

2016-01-01

Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique. © 2016 S. Karger AG, Basel.

Rare earth elements behavior in Peruibe black mud

International Nuclear Information System (INIS)

Torrecilha, Jefferson K.; Carvalho, Leandro P.; Gouvea, Paulo F.M.; Silva, Paulo S.C. da

2015-01-01

Rare earth elements in sediments have been used as powerful tools for environmental studies because of their behavior during geochemical processes and are also widely accepted as reliable provenance tracers because they are largely water-immobile and thus behave conservatively during sedimentary processes. The Peruibe Black Mud (PBM) is a sedimentary deposit originated from the interactions of marine sediments and organic matter in an estuarine environment that originates a peloid currently used for medicinal purposes. The objective of this study was to examine rare earth elements pattern distribution in the Peruibe black mud sedimentary deposit as a proxy for its geochemical development. Elemental ratios such as LaN/YbN, Th/U and La/Th were determined and a normalization of the mean rare earth elements concentrations in the samples related to NASC indicates that the light (La to Eu) rare earth elements present values close to the unity while the heavy (Tb to Lu) rare earth elements are depleted related to NASC. It can be observed that the light rare earth elements present enrichment values slightly enriched over the unity while the heavy rare earth elements present values generally below the unity reflecting the enrichment of the light rare earth elements over the heavy rare earth. Rare earth elements concentrations determined in Peruibe black mud samples showed a distribution similar to that found in the NASC for the light rare earth elements and depleted for the heavy rare earth elements. (author)

Rare earth elements behavior in Peruibe black mud

Energy Technology Data Exchange (ETDEWEB)

Torrecilha, Jefferson K.; Carvalho, Leandro P.; Gouvea, Paulo F.M.; Silva, Paulo S.C. da, E-mail: jeffkoy@usp.br [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil)

2015-07-01

Rare earth elements in sediments have been used as powerful tools for environmental studies because of their behavior during geochemical processes and are also widely accepted as reliable provenance tracers because they are largely water-immobile and thus behave conservatively during sedimentary processes. The Peruibe Black Mud (PBM) is a sedimentary deposit originated from the interactions of marine sediments and organic matter in an estuarine environment that originates a peloid currently used for medicinal purposes. The objective of this study was to examine rare earth elements pattern distribution in the Peruibe black mud sedimentary deposit as a proxy for its geochemical development. Elemental ratios such as LaN/YbN, Th/U and La/Th were determined and a normalization of the mean rare earth elements concentrations in the samples related to NASC indicates that the light (La to Eu) rare earth elements present values close to the unity while the heavy (Tb to Lu) rare earth elements are depleted related to NASC. It can be observed that the light rare earth elements present enrichment values slightly enriched over the unity while the heavy rare earth elements present values generally below the unity reflecting the enrichment of the light rare earth elements over the heavy rare earth. Rare earth elements concentrations determined in Peruibe black mud samples showed a distribution similar to that found in the NASC for the light rare earth elements and depleted for the heavy rare earth elements. (author)

Imaging of rare radiation injuries after radiosurgery for brain metastases

International Nuclear Information System (INIS)

Yamanaka, Kazuhiro; Yoshimura, Masaki; Iwai, Yoshiyasu

2011-01-01

Gamma knife radiosurgery (GKS) is generally an effective and safe treatment for brain metastases. We report 3 rare complicated cases after GKS due to radiation injury including image findings. Case 1: A 58-year-old man received whole brain radiation therapy for right occipital brain metastasis from lung cancer. However, local recurrence was noted and GKS was carried out 5 months later (size 28 mm, marginal dose 23 Gy (50% isodose)). Four years later, a cyst appeared and the patient developed apraxia and visual disturbance. Surgery was performed and the histopathology showed necrosis. Case 2: A 51-year-old woman received GKS for 4 brain metastases from breast cancer. The right occipital lobe lesion was treated with marginal dose of 18 Gy (size 24 mm, 50% isodose). Thirty-one months later, she developed left homonymous hemianopsia and MR imaging and CT scan showed intracerebral hemorrhage with cyst formation. An operation was performed and the histology revealed necrosis. Case 3: A 37-year-old man received GKS for left temporal brain metastasis from lung cancer (size 14 mm, marginal dose 23 Gy (50% isodose)). Twelve months later, the lesion increased in size again, so we carried out a second GKS on the same lesion (size 15 mm, marginal dose 23 Gy (50% isodose)). Thirty-five months later, massive peritumoral edema appeared and the patient developed left oculomotor palsy. An emergency operation was performed and the histopathological diagnosis was cavernous malformation that was thought to be induced by radiosurgery. Although the incidence is low, rare complications associated with radiation therapy can also occur by radiosurgery. (author)

Rare earth sulfates

International Nuclear Information System (INIS)

Komissarova, L.N.; Shatskij, V.M.; Pokrovskij, A.N.; Chizhov, S.M.; Bal'kina, T.I.; Suponitskij, Yu.L.

1986-01-01

Results of experimental works on the study of synthesis conditions, structure and physico-chemical properties of rare earth, scandium and yttrium sulfates, have been generalized. Phase diagrams of solubility and fusibility, thermodynamic and crystallochemical characteristics, thermal stability of hydrates and anhydrous sulfates of rare earths, including normal, double (with cations of alkali and alkaline-earth metals), ternary and anion-mixed sulfates of rare earths, as well as their adducts, are considered. The state of ions of rare earths, scandium and yttrium in aqueous sulfuric acid solutions is discussed. Data on the use of rare earth sulfates are given

A Rare Case of Pneumonia Caused by Shewanella putrefaciens

Directory of Open Access Journals (Sweden)

Rajshree Patel

2012-01-01

Full Text Available Shewanella putrefaciens is a gram-negative, nonfermentative, oxidase positive, motile bacillus that produces hydrogen sulphide. It is found widely in the nature especially in marine environments. In some very rare cases Shewanella putrefaciens can be a human pathogen. It can produce a wide variety of clinical syndromes including bacteremia as well as skin and soft tissue infections. However, pneumonia due to S. putrefaciens is rare; there are a total of 4 reported cases in the literature. We present a case of 63-year-old male who was presented to emergency room status after cardiac arrest, fell into sea water face down. On the second day of hospitalization, he was diagnosed to have pneumonia based on the clinical, radiological, and laboratory findings. Empirical antibiotic treatment with vancomycin and piperacillin/tazobactam combination was initiated. Gram-stained smear of endotracheal aspirate yielded gram-negative bacteria, and the isolate grown from endotracheal aspirate culture was identified as S. putrefaciens by Biomerieux API 20 NE technique. On review of the literature and according to culture and sensitivity results, therapy in our patient was changed to cefepime. Patient’s pneumonia improved with treatment with cefepime. We believe that our patient developed pneumonia evidently caused by S. putrefaciens, after near drowning in sea water. The pneumonia resolved after treatment with cefepime.

A rare presentation of disseminated tuberculosis: Prostatic abscess.

Science.gov (United States)

Verma, Ajay; Singh, Anubhuti; Kishore, Kislay; Kant, Surya

2017-10-01

Involvement of the prostate by tuberculosis (TB) occurs rarely and tuberculosis prostate abscess is an even rarer occurrence. It has been reported in immunocompromised patients, mainly human immunodeficiency virus seropositive individuals. We are reporting a case of tuberculosis prostatic abscess in an immunocompetent patient with relapse of TB. Copyright © 2016 Tuberculosis Association of India. Published by Elsevier B.V. All rights reserved.

Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management.

Science.gov (United States)

Nejat, Farideh; Kamali, Shahab; El Khashab, Mostafa

2013-08-01

Myelomeningocele is a complex central nervous system malformation mostly associated with other neural and extraneural anomalies. A rare special feature of the forehead and skull was observed in myelomeningocele. Here, we present several patients with myelomeningocele, severe hydrocephalus, and interfrontal encephalocele accompanied by metopic suture widening and abnormally shaped frontal bones. Five children with this feature were enrolled in this series. The age, sex, location of myelomeningocele sac, neurological deficits, hydrocephalus and history of shunt surgery, and follow-up period were evaluated. Patients were aged from 1 to 12 months (mean, 6 months). All patients were male. Most sacs were located in lumbar and lumbosacral areas. Neurological deficits varying from only sphincter problem to paraplegia were found in all patients. Hydrocephalus was found in all children that needed a shunt procedure. Asymptomatic Chiari malformation, interfrontal encephalocele, and corpus callosum agenesis were evident in five, five, and three patients, respectively. Anterior fontanel anomalies known as interfrontal encephalocele associated with myelomeningocele have been reported before. The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes. The associated hydrocephalus exaggerates the anomaly. Treatment of accompanying hydrocephalus is advised to decrease the severity of frontal lobe herniation. Some patients may need frontal bone reconstruction surgery to provide cosmetic correction at the place of the midline frontal bone defect.

Incentives for Starting Small Companies Focused on Rare and Neglected Diseases.

Science.gov (United States)

Ekins, Sean; Wood, Jill

2016-04-01

Starting biotech or pharmaceutical companies is traditionally thought to be based around a scientist, their technology platform or a clinical candidate spun out from another company. Between us we have taken a different approach and formed two small early stage companies after initially leveraging the perspective of a parent with a child with a life-threatening rare disease. Phoenix Nest ( http://www.phoenixnestbiotech.com/ ) was co-founded to work on treatments for Sanfilippo syndrome a devastating neurodegenerative lysosomal storage disorder. In the space of just over 3 years we have built up collaborations with leading scientists in academia and industry and been awarded multiple NIH small business grants. The second company, Collaborations Pharmaceuticals Inc. ( http://www.collaborationspharma.com/ ) was founded to address some of the other 7000 or so rare diseases as well as neglected infectious diseases. The Rare Pediatric Disease Priority Review Voucher is likely the most important incentive for companies working on rare diseases with very small populations. This may also be partially responsible for the recent acquisitions of rare disease companies with late stage candidates. Lessons learned in the process of starting our companies are that rare disease parents or patients can readily partner with a scientist and fund research through NIH grants rather than venture capital or angel investors initially. This process may be slow so patience and perseverance is key. We would encourage other pharmaceutical scientists to meet rare disease parents, patients or advocates and work with them to further the science on their diseases and create a source of future drugs.

Reducing selection bias in case-control studies from rare disease registries

Directory of Open Access Journals (Sweden)

Mistry Pramod K

2011-09-01

Full Text Available Abstract Background In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG Gaucher Registry were used as an example. Methods A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals were calculated for each variable before and after matching. Results The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN and controls (i.e., patients without AVN who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age, treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. Conclusions We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

Gluteal Compartment Syndrome following bariatric surgery: A rare but important complication

Directory of Open Access Journals (Sweden)

Bernadette Pereira

2015-03-01

Full Text Available Gluteal Compartment Syndrome is a rare condition caused by excessive pressure within the gluteal compartments which leads to a number of potentially serious sequelae including rhabdomyolysis, nerve damage, renal failure and death. As bariatric patients are heavy and during prolonged bariatric procedures lie in one position for extended periods of time, they are especially susceptible to developing this complication. It is therefore essential that bariatric surgeons are aware of this complication and how to minimise the chances of it occurring and how to diagnose it. We describe a case of Gluteal Compartment Syndrome in a patient following a gastric bypass and review the aetiology, pathophysiology, treatment and prevention of this complication.

Immobilization of Radioactive Rare Earth oxide Waste by Solid Phase Sintering

International Nuclear Information System (INIS)

Ahn, Byung Gil; Park, Hwan Seo; Kim, Hwan Young; Lee, Han Soo; Kim, In Tae

2010-01-01

In the pyroprocessing of spent nuclear fuels, LiCl-KCl waste salt containing radioactive rare earth chlorides are generated. The radioactive rare earth oxides are recovered by co-oxidative precipitation of rare earth elements. The powder phase of rare earth oxide waste must be immobilized to produce a monolithic wasteform suitable for storage and ultimate disposal. The immobilization of these waste developed in this study involves a solid state sintering of the waste with host borosilicate glass and zinc titanate based ceramic matrix (ZIT). And the rare-earth monazite which synthesised by reaction of ammonium di-hydrogen phosphate with the rare earth oxides waste, were immobilized with the borosilicate glass. It is shown that the developed ZIT ceramic wasteform is highly resistant the leaching process, high density and thermal conductivity.

A Rare Case of Gestational Gigantomastia with Hypercalcemia: The Challenges of Management and Follow up

Science.gov (United States)

Moazzami, Bahram; Chaichian, Shahla; Farahvash, Mohammad Reza; Taheri, Saeedeh; Ahmadi, Seyed Ali; Mokhtari, Majid; Sheibani, Kourosh

2016-01-01

Background: Gigantomastia is a breast disorder marked by exaggerated rapid growth of the breasts, generally bilaterally. Since this disorder is very rare and has been reported only in sparse case reports its etiology has yet to be fully established. Treatment is aimed at improving the clinical and psychological symptoms and reducing the treatment side effects; however, the best therapeutic option varies from case to case. Case Presentation: The present report described a case of gestational gigantomastia in a 30-year-old woman, gravida 2, parity 1, 17 week pregnant admitted to Pars Hospital, Tehran, Iran, on May 2014. The patient was admitted to hospital at week 17 of pregnancy, although her breasts initially had begun to enlarge from the first trimester. The patient developed hypercalcemia in her 32nd week of pregnancy. The present report followed this patient from diagnosis until the completion of treatment. Conclusion: Although gestational gigantomastia is a rare condition, its timely prognosis and careful examination of some conditions like hyperprolactinemia and hypercalcemia is essential in successful management of this condition. PMID:27921004

Dracunculus medinensis (Guinea worm disease): a rare cause of calcification

Energy Technology Data Exchange (ETDEWEB)

Gospos, C.

1980-01-01

Tangled whorly calcifications were seen in the abdominal subcutaneous tissues of a negro patient from Africa. The differential diagnosis of such calcifications - rarely observed in Europe - includes a variety of parasites. In this patient, Dracunculus medinensis (guinea worm disease) was the cause.

Adrenal ganglioneuroma in a patient with polycystic ovarian disease (PCOD): a rare association

OpenAIRE

Kumar, Arvind; Singh, Vishwajeet; Sankhwar, Satyanarayan; Babu, Suresh

2013-01-01

Adrenal ganglioneuromas are rare, benign incidentalomas of a neural crest origin. A majority of these tumours are clinically silent and discovered on imaging for unrelated reasons. Polycystic ovarian disease (PCOD) is an endocrine disorder characterised by bilateral polycystic ovaries, anovulation leading to infertility, irregular menstrual cycles and features of androgen hormone excess. Herein we report a rare case of adrenal ganglioneuroma in a 14-year-old girl with PCOD. She was referred t...

A Rare Case: Isolated Testicular and Epidural Abscess Associated with Brucellosis

Directory of Open Access Journals (Sweden)

Tugce Kalayci

2014-08-01

Full Text Available Coincidence of isolated testicular abscess and epidural-paravertebral abscess is a rare complication of brucellosis. A 24-year-old male patient was admitted to our clinic with 2 months ongoing back pain, night sweats and left scrotal pain. Septal cystic lesion with dense content in the left testis was considered to isolated testicular abscess in scrotal Doppler examination. Multiple spinal epidural and right paraspinal abscess were detected in the spinal magnetic resonance imaging. The patient was treated with drainage of abscess and oral antibiotics. The rare combination of spinal epidural and testicular abscess should be kept in the mind if a patient presented with low back pain and scrotal pain in regions where brucellosis was endemic.

Rare Earths and Clean Energy: analyzing China's upper hand

International Nuclear Information System (INIS)

Seaman, J.

2010-01-01

An ominous but avoidable resource crunch in the so-called 'rare earth elements' is now threatening the development of a number of key industries from energy to defense to consumer electronics. As key components in the latest generation of technologies, including specialized magnets for windmills and hybrid cars, lasers for range finders and 'smart' munitions, and phosphors for LCD screens, demand for these rare metals is expected to grow rapidly in the years to come. But decades of under-investment in the mining and separation of these elements across the globe has left the industry ill-prepared to meet thi s growing demand. Over the years, only China has recognized the strategic significance of these resources and has succeeded in gaining a near monopoly on production, currently churning out 97% of the world' s rare earth oxides. Faced with problems of its own, and eager to use its resource advantage to master higher levels of value-added production of rare earth-dependent products, China has increasingly limited the rest of the world's access to these raw materials. This only complicates what was already projected to be a problematic resource shortage. This issue demands a higher quality of public debate. Rare earth consuming countries outside of China have only recently become aware of their dependence and started to take stock of the risks. Time is of the essence. Bringing new supplies online to meet growing demand is a long, complicated and risky process but is nevertheless necessary to ensure the development of high tech industries, notably clean energy. Accessible reserves of rare earths do exist outside of China and mitigating the effects of the looming shortage requires opening up these reserves to production. Yet, as the Chinese experience attests, there are substantial risks to the environment associated with mining and separating rare earths. Care must be taken to ensure responsible mining practices across the globe. Longer-term solutions, such as

Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.

Science.gov (United States)

2008-04-01

(1) N-acetylglutamate synthase deficiency is a rare congenital disorder that causes hyperammonaemic comas, resulting in severe neurological morbidity and usually leading to death during childhood. (2) Carglumic acid is the first drug to be used for replacement therapy. Data available in 2003 showed beneficial effects on growth and psychomotor development. (3) In 2007, about 20 patients treated with carglumic acid for N-acetyglutamate synthase deficiency, for at least 5 years in half of cases, were all still alive. Their development was normal when treatment was initiated before complications occurred. (4) No serious adverse effects have been observed. (5) In practice, although this treatment has to continue for life, carglumic acid represents a major advance for patients with N-acetylglutamate synthase deficiency.

Rare lung cancers

International Nuclear Information System (INIS)

Berzinec, P.

2013-01-01

The RARECARE Project (Rare Cancers in the Europe) supported by the European Union defined the rare cancers by the incidence rate of less than 6/100 000. There are several variants of lung cancer which are rare according to this definition. From the clinical point of view the most interesting are the rare adenocarcinomas and large cell neuroendocrine carcinoma. There are important differences in the diagnostic probability of EGFR and ALK mutations in the mutinous and non-mucin ous adenocarcinomas, in the signet ring cell adenocarcinomas, and large cell carcinomas. The optimal chemotherapy for neuroendocrine large cell carcinomas remains undefined. There is only very limited number of clinical trials aimed on the rare lung cancers and actually none phase III trial. Rare lung cancers continue to be a challenge both for the laboratory and the clinical research. (author)

Shaping an Effective Health Information Website on Rare Diseases Using a Group Decision-Making Tool: Inclusion of the Perspectives of Patients, Their Family Members, and Physicians

Science.gov (United States)

Litzkendorf, Svenja; Schmidt, Katharina; Pauer, Frédéric; Damm, Kathrin; Frank, Martin; Graf von der Schulenburg, Johann-Matthias

2017-01-01

Background Despite diverging definitions on rare conditions, people suffering from rare diseases share similar difficulties. A lack of experience by health professionals, a long wait from first symptoms to diagnosis, scarce medical and scientific knowledge, and unsatisfactory treatment options all trigger the search for health information by patients, family members, and physicians. Examining and systematically integrating stakeholder needs can help design information platforms that effectively support this search. Objective The aim of this study was to innovate on the group decision-making process involving patients, family members, and physicians for the establishment of a national rare disease Internet platform. We determined differences in the relevance of health information—especially examining quantifiable preference weights—between these subgroups and elucidated the structure and distribution of these differences in people suffering from rare diseases, their family members, and physicians, thus providing information crucial to their collaboration. Methods The included items were identified using a systematic Internet research and verified through a qualitative interview study. The identified major information needs included medical issues, research, social help offers, and current events. These categories further comprised sublevels of diagnosis, therapy, general disease pattern, current studies, study results, registers, psychosocial counseling, self-help, and sociolegal advice. The analytic hierarchy process was selected as the group decision-making tool. A sensitivity analysis was used to determine the stability and distribution of results. t tests were utilized to examine the results’ significance. Results A total of 176 questionnaires were collected; we excluded some questionnaires in line with our chosen consistency level of 0.2. Ultimately, 120 patients, 24 family members, and 32 physicians participated in the study (48 men and 128 women, mean

Mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland: A rare presentation

Directory of Open Access Journals (Sweden)

Lily Daniel

2014-01-01

Full Text Available Carcinoma ex pleomorphic adenoma in lacrimal gland is a rare entity unlike its salivary gland counterpart. This rare tumor poses a diagnostic challenge to clinicians as pre-operative diagnosis is difficult and diagnosis is only by careful pathological assessment. We report this uncommon lesion in a 62-year-old lady, wherein the malignant component was mucoepidermoid carcinoma. The elderly patient remained clinically and radiologically free of the tumor for two years after complete excision of the tumor but computed tomography at the end of two and a half years showed a recurrent lesion in the region of the lacrimal gland. This makes long term follow up of patients with these rare lacrimal tumors imperative with a minimum period of at least five years.

RARE METASTASES OF MALIGNANT MELANOMA

Directory of Open Access Journals (Sweden)

Marija Trenkić-Božinović

2014-09-01

Full Text Available Melanomas are malignant neoplasms that originate from melanocytes. The most common are on the skin and mucous membranes. Choroidal melanomas are quite different from cutaneous melanomas with regard to presentation, metastases, and treatment. We report two cases of metastatic gastric malignant melanoma of the eye and skin, with reference to the literature. The first patient was a woman aged 23 years, who underwent gastrectomy 22 months after enucleation of the eye due to malignant choroid melanoma. The second patient was a man, 72 years old, who underwent surgery 28 months before because of malignant melanoma of the skin of the forehead. Paraffin sections, 4 μm thick were stained using a classic method, as well as immunohistochemical DAKO APAAP method, using a specific S - 100 antibody and Melan A antibodies. The stomach is considered a rare place for the development of metastases. Metastases in the stomach are often limited to the submucosal as well as the serousmuscular layer, as noted in one of our patients. Metastatic melanoma of the gastrointestinal tract should be suspected in any patient with a history of malignant melanoma and new gastrointestinal symptoms. Because of the similarity between certain common histopathological types of malignant melanoma, primarily achromatic, and types of primary cancers of the stomach, the following immunohistochemical studies are needed: Melan A and S - 100 protein ( markers of malignant melanoma , as well as mucins: MUC5AC, MUC2 and CDX2 ( markers of different types of primary gastric carcinoma.

Pulmonary actinomycosis with thoracic soft tissue mass: a rare onset form

Energy Technology Data Exchange (ETDEWEB)

Zarca-diaz de la Espina, Miguel A.; Lopez-Menendez, Carlos; Ruiz-Martinez, Rafael; Molino-Trinidad, Ceferino

2001-03-01

Actinomycosis is unusual, and rare especially when the lung and the thoracic wall are involved. It is more frequent in immunocompromised patient. US, CT, or MRI are imaging methods of diagnosis with high sensibility to recognise the disease and are able to the management. We point out a rare case in a normal teenager with thoracic abscess.

Pulmonary actinomycosis with thoracic soft tissue mass: a rare onset form

International Nuclear Information System (INIS)

Zarca-diaz de la Espina, Miguel A.; Lopez-Menendez, Carlos; Ruiz-Martinez, Rafael; Molino-Trinidad, Ceferino

2001-01-01

Actinomycosis is unusual, and rare especially when the lung and the thoracic wall are involved. It is more frequent in immunocompromised patient. US, CT, or MRI are imaging methods of diagnosis with high sensibility to recognise the disease and are able to the management. We point out a rare case in a normal teenager with thoracic abscess

A rare case report of Strychnos nux-vomica poisoning with bradycardia

Directory of Open Access Journals (Sweden)

Lesley Ponraj

2017-01-01

Full Text Available Strychnine poisoning is a rare method of deliberate self-harm in adults. Poisoning with strychnine leaves is a rare form of strychnine poisoning, as the usual plant parts used are nuts, bark, and seeds. Although the common cardiac manifestations of strychnine positioning include tachycardia and hypertension, we report a patient with mild strychnine poisoning with bradycardia.

Fascinating world of rare earth research

International Nuclear Information System (INIS)

Gschneidner, K.A. Jr.

1977-01-01

The first part of this paper concerns some of the notable events which occurred early in the author's career as a rare earther and some of the major events which took place in the two decades 1950 to 1970. The notable changes and advances in the rare earth research world since the 1971 Durham Conference are described in the second and largest part of the paper. The final portion is concerned with actinide developments since 1971

A rare cause of drug-induced hepatitis in an immunocompromised patient and the role of glutathione.

Science.gov (United States)

Senadhi, Viplove; Arora, Deepika; Arora, Manish; Marsh, Franklin

2012-08-27

The Food and Drug Administration (FDA) has issued a warning on numerous herbal drugs, including many popular products at General Nutrition Centers (GNC), regarding unstudied hepatotoxicity. There have been recent reports of GNC products such as hydroxycut and herbalife, causing drug-induced hepatitis. Herbal medications are over-the-counter products and are not investigated thoroughly by the FDA. Given that the most common outpatient laboratory abnormality is elevated liver transaminases, a sign of hepatocellular toxicity; it is not surprising that some of these products end up causing hepatic dysfunction, especially when taken in large volume. There are numerous herbal supplements that are hepatotoxic, however, these medications have a much more significant effect in human immunodeficiency virus (HIV)/ acquired immune deficiency syndrome patients, which is secondary to depleted glutathione. We present a rare case of drug induced hepatitis secondary to herbal medications used to treat HIV and elucidate the role of glutathione depletion in immunocompromised patients.

Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

Directory of Open Access Journals (Sweden)

Neha Agarwal

2017-01-01

Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

Gorlin-goltz syndrome, an incidental finding: A rare case report

Directory of Open Access Journals (Sweden)

Sanyasi Gandhiraj

2012-01-01

Full Text Available Gorlin-Goltz syndrome is an uncommonly found rare disease which shows various possible diverse manifestations of multisystem anomalies, high degree penetration rate with variable expressiveness at least on three body systems. Cutaneous, skeletal, ophthalmological, neurological and reproductive systems are commonly affected in this syndrome. Multiple keratocysts of the jaws are the frequently developed early abnormality than any other. Hereditary autosomal dominant trait is explained as the causative factor for the development of the syndrome. In this case two major and seven minor anomalies were registered. The anomalies found in the patient were not categorized as serious life-threatening abnormalities excepting the multiple keratocysts which were treated by enucleation, curettage and Camoy′s solution application. An incidental detection of Gorlin-Goltz syndrome with multisystem anomalies of a 14-year-old female patient, who had reported for the swelling in the left body of the mandible, is described in this article.

Modeling AEC—New Approaches to Study Rare Genetic Disorders

Science.gov (United States)

Koch, Peter J.; Dinella, Jason; Fete, Mary; Siegfried, Elaine C.; Koster, Maranke I.

2015-01-01

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients’ skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient’s own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. PMID:24665072

Development and characterization of a rare earth emitter for a thermophotovoltaic power generator

Energy Technology Data Exchange (ETDEWEB)

Durisch, W; Panitz, J C [Paul Scherrer Inst. (PSI), Villigen (Switzerland)

1997-06-01

Energy conversion based on thermophotovoltaic (TPV) methods has recently attracted renewed interest. Efforts at PSI are directed towards the development of a modular TPV system based on existing technology to demonstrate the feasibility of this method. Here, we report first results obtained with a prototype TPV generator based upon a modified rare earth emitter, a heat reflecting filter and commercial silicon solar cells. The preparation of the modified emitter is described, and first results of spectroscopic and electrical characterization of the TPV system are presented. The introduction of the modified emitter leads to an efficiency gain of 30-40%. (author) 3 figs., 4 refs.

Rare Case of Aspergillus ochraceus Osteomyelitis of Calcaneus Bone in a Patient with Diabetic Foot Ulcers

Directory of Open Access Journals (Sweden)

Farhang Babamahmoodi

2015-01-01

Full Text Available Diabetes is the most common metabolic disease in humans. One of the major complications of the disease is foot ulcer that is prone to infection. The most common causes of infection which have been reported in these patients are bacteria and fungi such as Candida, Aspergillus, and Rhizopus species. We report one such rare case with calcaneal osteomyelitis caused by Aspergillus ochraceus in a patient with diabetic foot osteomyelitis. The case was a 68-year-old male with a history of type II diabetes for 2 years. The patient had two ulcers on the right heel bones for the past 6 months with no significant improvement. One of the most important predisposing factors to infectious diseases, especially opportunistic fungal infection, is diabetes mellitus. Aspergillus species can involve bony tissue through vascular system, direct infection, and trauma. Proper and early diagnosis and treatment of diabetic foot infection can reduce or prevent complications, such as osteomyelitis and amputation. The annual examination of feet for skin and nail lesion, sensation, anatomical changes, and vascular circulation can be useful for prevention and control of infection.

Symplastic leiomyoma of uterus: a rare histological variant

International Nuclear Information System (INIS)

Yasmeen, F.; Hafeez, M.; Hameed, S.; Ibnerasa, S.N.

2008-01-01

Symplastic leiomyoma is a rare histological variant of leiomyoma. This is a case report of a young nulliparous patient who presented with primary infertility for 2 years and swelling in lower abdomen for 6 months. Intramural fibroid was diagnosed during a pelvic ultrasound. Histopathology of that myomectomy showed symplastic leiomyoma with absent mitotic figures. The patient was managed as for a benign tumor. (author)

Immunmedieret perikarditis hos patient med meningokokmeningitis

DEFF Research Database (Denmark)

Fuglsang Hansen, Janne; Johansen, Isik Somuncu

2014-01-01

Extrameningial manifestations in patients with meningococcal meningitis are rare. One of these manifestations is immune-mediated or purulent pericarditis. We present a case where a patient with meningococcal meningitis developed pericarditis on the 11th day after admission. A pericardial puncture...

Pediatric Type Follicular Lymphoma: A Rare Entity with Excellent Prognosis

Science.gov (United States)

2018-01-19

YYYY) 12. REPORT TYPE 19/01/2018 Poster 4. TITLE AND SUBTITLE Pediatric -Type Follicular Lymphoma: A Rare Entity with Excellent Prognosis 6. AUTHOR(S...lymphoma is common in older adults but rare in pediatric and young adult patients. Pediatric follicular lymphoma comprises a only 6.5% of childhood... Pediatric follicular lymphoma is defined by a localized high grade appearing lymphoma that lacks these gene rearrangements. Other diagnoses to rule out

Laryngeal Chondrosarcoma: A rare cause of critical upper airway obstruction.

LENUS (Irish Health Repository)

Tuite, K

2018-01-01

Laryngeal cancers are rare, encompassing around one percent of all cancers. Suspicion should be raised if a patient presents with classical signs and symptoms; i.e. dysphonia, inspiratory stridor, dysphagia, odynophagia, neck mass, or persistent cough. Laryngeal chondrosarcoma is a rare form of laryngeal cancer, the diagnosis of which can be difficult. The case in question describes an unusual presentation of one such case, and its subsequent investigation, management and outcome.

Rare genetic diseases: update on diagnosis, treatment and online resources.

Science.gov (United States)

Pogue, Robert E; Cavalcanti, Denise P; Shanker, Shreya; Andrade, Rosangela V; Aguiar, Lana R; de Carvalho, Juliana L; Costa, Fabrício F

2018-01-01

Rare genetic diseases collectively impact a significant portion of the world's population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how the collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases. Copyright © 2017 Elsevier Ltd. All rights reserved.

Rare metal and rare earth pegmatites of Western India

International Nuclear Information System (INIS)

Maithani, P.B.; Nagar, R.K.

1999-01-01

Rajasthan Mica Belt in western India is one of the three major mica-producing Proterozoic pegmatite belts of India, the others being in Bihar and Andhra Pradesh. The pegmatites of these mica belts, in general, are associated with the rare metal (RM) and rare earth element (REE)-bearing minerals like columbite-tantalite, beryl, lepidolite and other multiple oxides. RM-REE pegmatites of Gujarat are devoid of commercially workable mica. These pegmatites are geologically characterised in this paper, based on their association with granite plutons geochemistry, and RM and REE potential. In addition to RM and RE-bearing pegmatites, granites of the Umedpur area, Gujarat also show anomalous concentration (0.97 wt%) of rare metals (6431 ppm Nb, 1266 ppm Ta, 454 ppm Sn, 173 ppm W), (1098 ppm Ce 1.36% Y 2 O 3 ) rare earths, and uranium (0.40% eU 3 O 8 ). Eluvial concentrations in the soil and panned concentrate (0.04-0.28 wt%) analysed up to 7.4%Nb 2 O 5 , 836 ppm Ta, and 1.31% Y. Discrete columbite-tantalite and betafite have been identified in these concentrates in addition to other minerals like zircon, rutile, sphene and xenotime. This area with discrete RM R EE mineral phases could be significant as a non-pegmatite source for rare metal and rare earths. (author)

Research on economy and social exclusion: China dolls and rare diseases

Science.gov (United States)

Matsui, Akihiko

2013-01-01

Summary The second workshop on “Research on Economy And Social Exclusion (REASE)” was held in the University of Tokyo on January 26, 2013. Focusing on rare diseases and disorders in China, three speakers from China introduced the current status of rare diseases and the challenge of support organizations for patients with rare disease and disorders in China, and especially pointed out some important issues associated with rare diseases and disorders in China. From the viewpoint of economics, this paper discusses some of the important issues of rare diseases and disorders in China raised in this workshop, especially from the aspects of economy of scale and orphan drugs, and the emergence of stigma from discrimination. It was shown that international coordination and cooperation are called for in order to give a proper incentive to the drug industries to create new drugs for rare diseases, and suggested that an important step toward inclusion is to reduce stigma by making rare diseases visible as much as possible. PMID:25343098

Kallmann syndrome and paranoid schizophrenia: A rare combination

NARCIS (Netherlands)

W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); J.E.J.M. Hovens (Hans); E.H. Hoefsloot (Lies)

2013-01-01

textabstractKallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been

Seckel syndrome: A rare case report

OpenAIRE

Rinky Sisodia; Ravi Kadur Sundar Raj; Vipin Goel

2014-01-01

Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor ps...

A Rare Clinical Presentation of Giant Bilateral Labial Fibroepithelial Stromal Polyps in Patient with Psoriasis Disease

Directory of Open Access Journals (Sweden)

Ayse Filiz Avsar

2016-01-01

Full Text Available Fibroepithelial polyps (FEPs are rarely seen lesions of the lower female genital tract with polypoid proliferations of stroma. These tumors usually present in the vulvovaginal region of the reproductive aged women. In this presentation, we report a case of a psoriatic woman who developed unusual multiple polypoid lesions approximately 15 cm in size arising from both left and right labia minora and unique connection of FEPs with psoriasis disease.

Coat-sleeve type giant congenital melanocytic nevus with intraoral blue nevus: A rare case report

Directory of Open Access Journals (Sweden)

Lata M Kale

2017-01-01

Full Text Available Congenital melanocytic nevi (CMN are visible hyperpigmented (melanocytic, benign, tumor like proliferations in the skin resulting from faulty development of pigment cell precursors in the embryo, and are composed of an abnormal mixture of skin elements. Giant congenital melanocytic nevus (GCMN is usually defined as a melanocytic lesion present at birth that will reach a larger size in adulthood. GCMN is a rare variety of CMN which is characterized by its size (diameter ≥20 cm and the potential for malignant transformation. It is infrequently associated with other findings, which makes the clinical picture complex. In this case, we report a rare association of GCMN with intraoral blue nevus in a 24-year-old male patient.

Rare earths

International Nuclear Information System (INIS)

1984-01-01

The conference was held from September 12 to 13, 1984 in Jetrichovice, Czechoslovakia. The participants heard 16 papers of which 4 were inputted in INIS. These papers dealt with industrial separation processes of rare earths, the use of chemical methods of separation from the concentrate of apatite and bastnesite, the effect of the relative permittivity of solvents in the elution of rare earth elements from a cation exchanger, and the determination of the content of different rare earth elements using X-ray fluorescence analysis and atomic absorption spectroscopy. (E.S.)

Retroperitoneal Malignant Peripheral Nerve Sheath Tumour: A Rare Case Report.

Science.gov (United States)

Deger, Ayse Nur; Bayar, Mehmet Akif; Caydere, Muzaffer; Deger, Hakki; Tayfur, Mahir

2015-09-01

Malignant nerve sheath tumours (MPNST) are rare neoplasias and retroperitoneal cases are fairly rare and clinically difficult to be detected, but they are very agressive neoplasias. MPNST are frequently seen in head, neck and upper extremities. In patients with NF1; MPNST, a poor-prognostic lesion, may result from a malignant degeneration of a former plexiform neurofibroma. It is necessary to be aware of a potential malignancy in patients diagnosed with plexiform neurofibroma. We present a 21-year-old female with a diagnosis of MPNST. The patient was admited to the hospital because of a tumour in the subcutaneous region on her left buttock. The surgeon's clinical diagnosis was lipoma. After the pathological examination of biopsy specimen, the lesion was identified as "plexiform neurofibroma" and then the patient was diagnosed with Neurofibromatosis Type 1 (NF1). Simultaneously, another mass on the retroperitoneal region was identified as malignant peripheral nerve sheath tumour (MPNST).

Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

Directory of Open Access Journals (Sweden)

Sadia Masood

2014-03-01

Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium

Science.gov (United States)

Seminara, Jennifer; Tuchman, Mendel; Krivitzky, Lauren; Krischer, Jeffrey; Lee, Hye-Seung; LeMons, Cynthia; Baumgartner, Matthias; Cederbaum, Stephen; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary O.; Kerr, Douglas S.; Lanpher, Brendan; Lee, Brendan; Lichter-Konecki, Uta; McCandless, Shawn E.; Merritt, J. Lawrence; Oster-Granite, Mary Lou; Seashore, Margretta R.; Stricker, Tamar; Summar, Marshall; Waisbren, Susan; Yudkoff, Marc; Batshaw, Mark L.

2010-01-01

The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC’s accomplishments over the first six years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies. PMID:20188616

A Rare Cause of Acute Abdomen: Idiopathic Isolated Cecal Necrosis

Directory of Open Access Journals (Sweden)

Ender Özer

2015-03-01

Full Text Available Idiopathic isolated cecal necrosis is a clinical problem characterized by right-sided inferior abdominal pain. It is rarely seen, develops due to decreased blood flow to the colon and, imitates acute appendicitis. Its clinical signs are similar to many illnesses causing sensitivity in the right inferior quadrant and, the diagnosis is generally determined during surgery. An 86-year-old male patient presented with the complaints of abdominal pain, trichiniasis, nausea and vomiting. Surgical intervention was decided when physical examination and laboratory results were taken into consideration. After diagnostic laparoscopy, right hemicolectomy was performed because of cecal necrosis. While the mortality and morbidity rates for ischemic bowel disease are high, prognosis for early diagnosed patients with isolated cecal necrosis is better, provided that timely surgical treatment is decided.

Rare platelet GPCR variants: what can we learn?

Science.gov (United States)

Nisar, S P; Jones, M L; Cunningham, M R; Mumford, A D; Mundell, S J

2015-07-01

Platelet-expressed GPCRs are critical regulators of platelet function. Pharmacological blockade of these receptors forms a powerful therapeutic tool in the treatment and prevention of arterial thrombosis associated with coronary atherosclerosis and ischaemic stroke. However, anti-thrombotic drug therapy is associated with high inter-patient variability in therapeutic response and adverse bleeding side effects. In order to optimize the use of existing anti-platelet drugs and to develop new therapies, more detailed knowledge is required relating to the molecular mechanisms that regulate GPCR and therefore platelet function. One approach has been to identify rare, function-disrupting mutations within key platelet proteins in patients with bleeding disorders. In this review, we describe how an integrated functional genomics strategy has contributed important structure-function information about platelet GPCRs with specific emphasis upon purinergic and thromboxane A2 receptors. We also discuss the potential implications these findings have for pharmacotherapy and for understanding the molecular basis of mild bleeding disorders. © 2014 The British Pharmacological Society.

Low-grade myofibroblastic sarcoma of the larynx: A rare entity with review of literature

Directory of Open Access Journals (Sweden)

Divya Khosla

2013-01-01

Full Text Available Mesenchymal neoplasms of the larynx are rare and make up approximately 0.3% to 1.0% of all malignancies at this location. Low grade myofibroblastic sarcoma (LGMS of larynx is a rare entity. We describe a rare case of LGMS of larynx who presented with complaint of hoarseness of voice. The patient was treated with total laryngectomy plus partial pharyngectomy followed by post-operative radiotherapy. Histopathologically, the lesion was composed of spindle cells that manifested variable cellular anaplasia and expressed smooth muscle actin (SMA and focally S-100.One of the resection limits was involved so patient was given post-operative radiotherapy. The patient is alive and disease free 14 months after surgery. The characteristic clinical, histopathological features and treatment of this case are described with a literature review.

Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

Directory of Open Access Journals (Sweden)

Harshithaa Thavarajah

2017-01-01

Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

Splenic Infarct: A Rare Presentation in a Pediatric Patient

Directory of Open Access Journals (Sweden)

Palla Bhattarai

2014-12-01

Full Text Available A previously healthy 16-year-old male presented with a two day history of persistent epigastric pain. His physical examination was significant for tenderness in the left hypochondriac region with a palpable spleen 2cm below the left sub-costal margin. A CT scan of the abdomen showed a splenic infarct. Heterophile and EBV VCA IgM antibody test were positive. This is a rare case of infectious mononucleosis presenting with splenic infarct in an adolescent male without comorbidities. Keywords: infectious mononucleosis; splenic infarct.

Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?

Directory of Open Access Journals (Sweden)

Miny Peter

2011-08-01

Full Text Available Abstract Ectopic liver is a very uncommon developmental anomaly that predisposes to the development of hepatocellular carcinoma. We describe the second documented case of a hepatocellular carcinoma developing in the primary liver of a patient with a rare and uncharacterized genetic symptom complex. Also present was the largest ectopic liver ever reported, measuring 12 cm in diameter which contained a solitary focus of metastatic hepatocellular carcinoma. The primary hepatocellular carcinoma is believed to have arisen in the native liver from a hepatic adenoma that was diagnosed 15 years earlier. The patient's uncharacterised condition featured prominent thick, yellow skin over the dorsum of the fingers, and was associated with follicular hyperkeratosis, abnormal plantar creases, digital clubbing, misshaped ears, a lingua plicata and an angioleiomyolipoma of the right kidney. This unique case of hepatocellular carcinoma arising from liver cell adenoma in a patient with an uncharacterised condition featuring a large ectopic liver invites discussion of the role of local factors in carcinogenesis in the parent liver but not the ectopic liver. It also underlines the imperative ongoing need for clinical autopsies.

Coexistence of Pernicious Anemia and Myasthenia Gravis—A Rare Combination of Autoimmune Diseases in Taiwan

Directory of Open Access Journals (Sweden)

Kuo-Hsuan Chang

2006-01-01

Full Text Available About 5-10% of patients with myasthenia gravis concomitantly have other autoimmune diseases. However, the coexistence of myasthenia gravis and pernicious anemia is rare. Here, we report a 73-year-old Taiwanese woman who developed myasthenia gravis 5 months after the onset of pernicious anemia. Her myasthenic and pernicious anemia symptoms markedly improved after pyridostigmine, prednisolone and hydroxo-cobalamine treatment. It is important to recognize concurrence of myasthenia gravis and pernicious anemia in the same patient because the therapeutic results for both diseases are rewarding.

Embracing the role of real life studies in the management of rare cancers

Directory of Open Access Journals (Sweden)

Omar Abdel-Rahman

2016-10-01

Full Text Available For commonly occurring cancers, as well as situations or conditions that are frequently encountered in oncological setting, plenty of prospective data are available to oncologists or medical practitioners to facilitate the decision making process. However, for rare cancers and atypical scenarios, there are limited references in the current literature. Understandably, this is attributed to the difficulty in recruiting enough patients to systematically study such rare manifestations. Under these circumstances, the importance of real life data that are collected via population-based studies, case series, and case reports is especially significant. In the current issue of AMOR, the journal features three case reports that describe distinctly uncommon oncological scenarios. In one report, Vafaii and Shao highlighted the stepwise development of classical Hodgkin lymphoma (cHL from diffuse large B cell lymphoma (DLBCL via precursor Reed-Sternberg/Hodgkin cells, as confirmed via multiple biopsies. They suggested that cHL and DLBCL can be clonally related, even when developing metachronously in the same patient, based on the presence of a hybrid intermediate stage. Meanwhile, Xian and colleagues reported the surgical management of brachial plexus pain that is caused by Pancoast tumor. According to them, the condition closely resembles the symptoms of brachial plexus injury and thus, the underlying cause is easily misdiagnosed. Finally, Coehlo and co-workers presented a report on the prolonged disease control of esthesioneuroblastoma using a multimodality approach, combining surgery, radiotherapy, and chemotherapy to derive an effective treatment strategy. It is noteworthy that despite an initial distant metastasis setback, the patient responded positively to palliative chemotherapy, thus proving the value of the much debated approach.In short, these case reports are an invaluable addition to existing medical literature concerning the diagnoses and

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

Science.gov (United States)

Rovelet-Lecrux, Anne; Legallic, Solenn; Wallon, David; Flaman, Jean-Michel; Martinaud, Olivier; Bombois, Stéphanie; Rollin-Sillaire, Adeline; Michon, Agnès; Le Ber, Isabelle; Pariente, Jérémie; Puel, Michèle; Paquet, Claire; Croisile, Bernard; Thomas-Antérion, Catherine; Vercelletto, Martine; Lévy, Richard; Frébourg, Thierry; Hannequin, Didier; Campion, Dominique

2012-06-01

Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.

Microscopic haematuria: A rare presentation of typhoid fever.

Science.gov (United States)

Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry

2015-04-01

Typhoid fever can cause a number of renal manifestations heretofore dubbed 'nephrotyphoid'. Haematuria in the absence of renal impairment is extremely rare among typhoid patients. We report a case of an adult who presented with a prolonged febrile illness and microscopic haematuria. Blood culture confirmed the diagnosis of typhoid and the patient was treated successfully with ceftriaxone. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Bilateral Breast Abscess Caused by E. coli in a Non-lactating Woman: A Rare Case.

Science.gov (United States)

Şimşek, Gürcan; Gündeş, Ebubekir; Tekin, Şakir; Tavlı, Şakir

2014-07-01

Breast abscess usually occurs during lactation and the responsible organism is often S. Aureus . Breast abscess in non-lactating women is extremely rare and limited data is available in the literature regarding this entity. In our study, a 36-year-old non-lactating female patient who developed bilateral breast abscess due to E. coli infection without any predisposing factors has been discussed in light of the literature.

Parathyroid adenoma with concurrent toxic thyroid adenoma: A rare ...

African Journals Online (AJOL)

recognized phenomenon. Primary hyperparathyroidism due to parathyroid adenoma in association with thyroid adenoma is extremely rare. These cases can present a diagnostic and therapeutic challenge to the treating physician as the patient may ...

Intracranial neurenteric cyst: A rare cause of chemical meningitis

Directory of Open Access Journals (Sweden)

Naseer A Choh

2013-01-01

Full Text Available Intracranial neurenteric cysts are exceedingly rare congenital intracranial lesions that result from disorder of gastrulation. Still, more rarely, the cyst contents may leak into the CSF and give rise to recurrent episodes of chemical meningitis. We present a case of chemical meningitis due to a leaking posterior fossa neurenteric cyst in a young female, with emphasis on its imaging features. The final diagnosis was achieved by sufficiently characteristic imaging features; histopathologic documentation could not be achieved as the patient denied surgery.

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis

OpenAIRE

D?ring, Jan Henje; Lampert, Anette; Hoffmann, Georg F.; Ries, Markus

2016-01-01

Background Epilepsy is a serious chronic health condition with a high morbidity impairing the life of patients and afflicted families. Many epileptic conditions, especially those affecting children, are rare disorders generating an urgent medical need for more efficacious therapy options. Therefore, we assessed the output of the US and European orphan drug legislations. Methods Quantitative analysis of the FDA and EMA databases for orphan drug designations according to STrengthening the Repor...

Orbital Chondroma: A rare mesenchymal tumor of orbit

Directory of Open Access Journals (Sweden)

Ruchi S Kabra

2015-01-01

Full Text Available While relatively common in the skeletal system, cartilaginous tumors are rarely seen originating from the orbit. Here, we report a rare case of an orbital chondroma. A 27-year-old male patient presented with a painless hard mass in the superonasal quadrant (SNQ of left orbit since 3 months. On examination, best-corrected visual acuity of both eyes was 20/20, with normal anterior and posterior segment with full movements of eyeballs and normal intraocular pressure. Computerized tomography scan revealed well defined soft tissue density lesion in SNQ of left orbit. Patient was operated for anteromedial orbitotomy under general anesthesia. Mass was excised intact and sent for histopathological examination (HPE. HPE report showed lobular aggregates of benign cartilaginous cells with mild atypia suggesting of benign cartilaginous tumor - chondroma. Very few cases of orbital chondroma have been reported in literature so far.

Glomus tumor of penis- A rare case

Directory of Open Access Journals (Sweden)

Madhuri S. Kate

2013-01-01

Full Text Available Glomus tumors are rare, painful, and benign soft tissue tumors of the skin arising from the glomus body, an arteriovenous thermoregulatory structure. This lesion is usually found on the extremities. Glomus tumor involving the external genital organs including penis is extremely rare. Until now, only few cases have been reported in the available literature. A 22 year old male patient presented with a painful nodule over the penis. The pathologic diagnosis was glomus tumor of the glans penis. We report herewith a case of glomus tumor of penis diagnosed on histopathologic examination. Glomus tumor, being a benign neoplasm, complete extirpation of the glomus tumor is the treatment of choice.

Zosteriform cutaneous leiomyoma: a rare cutaneous neoplasm

International Nuclear Information System (INIS)

Bari, A.U.

2013-01-01

Cutaneous leiomyomas are firm, round to oval, skin-coloured to brownish papules and nodules that may present as a solitary, few discrete or multiple clustered lesions. Different uncommon patterns of multiple leiomyoma distribution have been noted as bilateral, symmetrical, linear, zosteriform, or dermatomal-like arrangement. One such rare presentation was seen in a 23-year-old patient who presented with zosteriform skin coloured, occasionally painful cutaneous lesions over left shoulder region. Histopathology confirmed the diagnosis of cutaneous leiomyoma. He was symptomatically managed with non-steroidal anti-inflammatory agents and topical capcicum cream. Case is reported here due to rare occurrence of this benign cutaneous neoplasm in an atypical pattern and on uncommon site. (author)

Factitious disorder: a rare cause of haematemesis.

Science.gov (United States)

McFarlane, Michael; Eaden, Jayne; Burch, Nicola; Disney, Ben

2017-10-01

Acute upper gastrointestinal (GI) bleeding is a common condition in the UK with 50-70,000 admissions per year. In 20% of cases no cause can be found on endoscopy. Here, we present the case of a young female patient who was admitted on three occasions with large volume haematemesis and bleeding from other sites. She was extensively investigated and underwent multiple endoscopic procedures. She was eventually diagnosed with factitious disorder after concerns were raised about the inconsistent nature of her presentations. She was found to be venesecting herself from her intravenous cannula, and ingesting the blood to simulate upper GI bleeding. This is a rare cause of 'haematemesis' but perhaps not as rare as is thought.

Pseudohypertension-Like Presentation: An Exceptionally Rare Presentation in an Athletic Female Patient with Morphea

Directory of Open Access Journals (Sweden)

Ahmed Al-Imam

2016-01-01

Full Text Available Introduction. Pseudohypertension is a condition which mainly occurs due to thickening-calcification of tunica intima of the arterial wall, leading to a faulty measurement of the intra-arterial blood pressure. To the best of our knowledge, this is the first case report in literature, of a pseudohypertension-like presentation in association with Morphea en plaque. Case Presentation. This is a rare presentation of a young athletic female and a professional tennis player, with pseudohypertension-like presentation. The patient had a traumatic injury to the right elbow joint; the injury occurred during a professional tennis match. The injury was managed by immobilization, physiotherapy, and Low-Level Laser Therapy. Soon after that, the patient had a circumscribed sclerotic ivory plaque affecting the skin of the right cubital fossa. The histopathology analysis, together with the serological-hematological tests and the clinical picture, along with positive Osler’s signs, leads to the conclusive diagnosis of Morphea en plaque. The peculiar anatomic localization of the plaque anterior to the brachial artery leads to faulty blood pressure measurement as recorded by mercurial sphygmomanometer. Conclusion. This unique presentation of Morphea en plaque carries an important message in relation to the basic medical practice and in relation to the accurate measurement of the vital signs.

Treatment results of 165 pediatric patients with non-metastatic nasopharyngeal carcinoma: A Rare Cancer Network study

International Nuclear Information System (INIS)

Ozyar, Enis; Selek, Ugur; Laskar, Siddihartha; Uzel, Omer; Anacak, Yavuz; Ben-Arush, Miriam; Polychronopoulou, Sopiha; Akman, Fadime; Wolden, Suzanne L.; Sarihan, Suereyya; Miller, Robert C.; Ozsahin, Mahmut; Abacioglu, Ufuk; Martin, Margarita; Caloglu, Murat; Scandolaro, Luciano; Szutowicz, Eva; Atahan, Ibtisam Lale

2006-01-01

Purpose: This Rare Cancer Network (RCN) study was performed in pediatric nasopharyngeal carcinoma (PNPC) patients to evaluate the optimal dose of radiotherapy and to determine prognostic factors. Patients and Methods: The study included 165 patients with the diagnosis of PNPC treated between 1978 and 2003. The median age was 14 years. There were 3 (1.8%) patients with stage I, 1 (0.6%) with IIA, 10 (6.1%) with IIB, 60 (36.4%) with III, 44 (26.7%) with IVA, and 47 (29%) with IVB disease. While 21 (12.7%) patients were treated with radiotherapy (RT) alone, 144 (87.3%) received chemotherapy and RT. The median follow-up time was 48 months. Results: The actuarial 5-year overall survival (OS) was 77.4% (95% CI: 70.06-84.72), whereas the actuarial 5-year disease-free survival (DFS) rate was 68.8% (95% CI: 61.33-76.31). In multivariate analysis, unfavorable factors were age >14 years for LRC (p = 0.04); male gender for DMFS (p = 0.03); T3/T4 disease for LRFS (p = 0.01); and N3 disease for DFS (p = 0.002) and OS (p = 0.002); EBRT dose of less than 66 Gy for LRFS (p = 0.02) and LRRFS (p = 0.0028); and patients treated with RT alone for LRFS (p = 0.0001), LRRFS (p = 0.007) and DFS (p = 0.02). Conclusion: Our results support the current practice of using combined radiation and chemotherapy for optimal treatment of NPC. However, research should be encouraged in an attempt to reduce the potential for long-term sequelae in pediatric patients given their relatively favorable prognosis and potential for longevity

Extramedullary hematopoiesis: a rare occurrence in the sinonasal tract.

Science.gov (United States)

Bizzoni, Andrea; Lombardi, Davide; Maroldi, Roberto; Incardona, Paolo; Nicolai, Piero

2010-04-01

Extramedullary hematopoiesis (EMH) is a systemic reaction to inadequate hematopoiesis. We report two exceedingly rare cases of EMH involving the paranasal sinuses. The first patient, a 30-year-old man, presented with a maxillary sinus mass. The lesion was excised by endoscopic surgery: definitive histology identified foci of EMH within an inflammatory fibromyxoid pseudotumor. The second case occurred in a 29-year-old man affected by intermediate beta-thalassemia. He was hospitalized with a diagnosis of sphenoid sinus mucocele secondary to an ethmoid lesion. The patient underwent endoscopic excision of the mass and drainage of the sphenoid mucocele. At definitive histology, a diagnosis of EMH was established. Herein, the presenting modalities, imaging profile, and treatment options of this rare EMH localization are reviewed. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

A Rare Case of Metastatic Choriocarcinoma of Lung Origin

Directory of Open Access Journals (Sweden)

Parth Rali

2017-01-01

Full Text Available Choriocarcinoma is part of the spectrum of gestational trophoblastic disease that occurs in women of reproductive age. Although the most common metastatic site of choriocarcinoma is the lung, primary pulmonary choriocarcinoma is rare. To diagnose primary pulmonary choriocarcinoma, the patient should have no previous gynecologic malignancy, have elevated human chorionic gonadotropin, and have pathological confirmation of the disease excluding gonadal primary site of the tumor. Due to the paucity of data, there are no guidelines for treatment. Prognosis of this malignancy is extremely poor. We report a rare case of metastatic primary lung choriocarcinoma in a 69-year-old postmenopausal woman who was treated with combination of surgery, chemotherapy, and radiation. The patient had a good outcome and is doing well after 1-year follow-up.

Rare earths production and marketing opportunities

International Nuclear Information System (INIS)

Falconnet, P.G.

1988-01-01

The rare earths (RE) market is relatively small. The total production during 1968 was only 10000 tons (REO) which rose to 27000 tons (REO) during 1985. The three major areas of application, which are volume market for ceric rare earths are catalysts, glass ceramics and metallurgy. Among the other uses of rare earths, the permanent magnets, lamp phosphors and fine ceramics have registered significant growth in RE consumption. Monazite and bastnasite are the main natural source for rare earths and processing of these for one of the rare earths in high demand leads to over production of some others not in demand, thus creating a balance problem. The growth in RE market has always been influenced by the technology shifts and product substitution. For example, the RE consumption during 1974/76 for desulfurization of steel had substantially decreased due to the usage of calcium. Similarly, 1985 had witnessed a drastic cut in the use of REs in fluid cracking due to the introduction of stabilized zeolites which contain less REO. Thus, the overall compound growth rate of demand was only 3.9 % per year during the period 1970-1985. At present, 37 % of the rare earths production goes to the glass/ceramics industry, 33 % for catalyst and 25 % to metallurgy. The price of REs constantly shows a downward trend. This trend coupled with the rapid changes taking place in the various technological fields, demands greater flexibility and high marketing skills from the RE producers. The key factor for future expansion of RE market will be the development of 'high volume' application of ceric rare earths. (author) 2 figs., 8 tabs

Synovial Sarcoma of the Buccal Mucosa: A Rare Case Report

Directory of Open Access Journals (Sweden)

Kumar T. S. Mahesh

2013-01-01

Full Text Available Synovial sarcoma (SS is a rare malignant neoplasm that arises most commonly in joint capsules and articular tendons, but its relationship to the synovium is not always obvious. Synovial sarcoma is a malignant soft tissue tumor representing 5.6% to 10% of all soft tissue sarcomas. They are termed SS because of their histologic resemblance to the synovium, but they rarely involve a synovial structure and are thought to arise from pluripotential mesenchymal cells. The tumor usually occurs in close association with tendon sheaths, bursae, and joint capsules, primarily in the para-articular regions of the extremities, with approximately 9% occurring in the head and neck region. Synovial sarcoma has been reported rarely in the oral cavity. We report a very rare case of Synovial sarcoma of the buccal mucosa in a 24-year-old male patient.

Meningitis in a Chinese adult patient caused by Mycoplasma hominis: a rare infection and literature review

OpenAIRE

Zhou, Menglan; Wang, Peng; Chen, Sharon; Du, Bin; Du, Jinlong; Wang, Fengdan; Xiao, Meng; Kong, Fanrong; Xu, Yingchun

2016-01-01

Background Mycoplasma hominis, a well known cause of neonatal infection, has been reported as a pathogen in urogenital infections in adults; however, central nervous system (CNS) infections are rare. We report here the first case of M. hominis meningitis in China, post neurosurgical treatment for an intracerebral haemorrhage in a 71-year-old male. Case presentation We describe a 71-year-old man who developed M. hominis meningitis after neurosurgical treatment and was successfully treated with...

Shaping an Effective Health Information Website on Rare Diseases Using a Group Decision-Making Tool: Inclusion of the Perspectives of Patients, Their Family Members, and Physicians.

Science.gov (United States)

Babac, Ana; Litzkendorf, Svenja; Schmidt, Katharina; Pauer, Frédéric; Damm, Kathrin; Frank, Martin; Graf von der Schulenburg, Johann-Matthias

2017-11-20

Despite diverging definitions on rare conditions, people suffering from rare diseases share similar difficulties. A lack of experience by health professionals, a long wait from first symptoms to diagnosis, scarce medical and scientific knowledge, and unsatisfactory treatment options all trigger the search for health information by patients, family members, and physicians. Examining and systematically integrating stakeholder needs can help design information platforms that effectively support this search. The aim of this study was to innovate on the group decision-making process involving patients, family members, and physicians for the establishment of a national rare disease Internet platform. We determined differences in the relevance of health information-especially examining quantifiable preference weights-between these subgroups and elucidated the structure and distribution of these differences in people suffering from rare diseases, their family members, and physicians, thus providing information crucial to their collaboration. The included items were identified using a systematic Internet research and verified through a qualitative interview study. The identified major information needs included medical issues, research, social help offers, and current events. These categories further comprised sublevels of diagnosis, therapy, general disease pattern, current studies, study results, registers, psychosocial counseling, self-help, and sociolegal advice. The analytic hierarchy process was selected as the group decision-making tool. A sensitivity analysis was used to determine the stability and distribution of results. t tests were utilized to examine the results' significance. A total of 176 questionnaires were collected; we excluded some questionnaires in line with our chosen consistency level of 0.2. Ultimately, 120 patients, 24 family members, and 32 physicians participated in the study (48 men and 128 women, mean age=48 years, age range=17-87 years

Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

Science.gov (United States)

Yang, Tian; Jia, Zhonglin; Bryant-Pike, Whitney; Chandrasekhar, Anand; Murray, Jeffrey C; Fritzsch, Bernd; Bassuk, Alexander G

2014-01-01

Palate development is shaped by multiple molecular signaling pathways, including the Wnt pathway. In mice and humans, mutations in both the canonical and noncanonical arms of the Wnt pathway manifest as cleft palate, one of the most common human birth defects. Like the palate, numerous studies also link different Wnt signaling perturbations to varying degrees of limb malformation; for example, shortened limbs form in mutations of Ror2,Vangl2looptail and, in particular, Wnt5a. We recently showed the noncanonical Wnt/planar cell polarity (PCP) signaling molecule Prickle1 (Prickle like 1) also stunts limb growth in mice. We now expanded these studies to the palate and show that Prickle1 is also required for palate development, like Wnt5a and Ror2. Unlike in the limb, the Vangl2looptail mutation only aggravates palate defects caused by other mutations. We screened Filipino cleft palate patients and found PRICKLE1 variants, both common and rare, at an elevated frequency. Our results reveal that in mice and humans PRICKLE1 directs palate morphogenesis; our results also uncouple Prickle1 function from Vangl2 function. Together, these findings suggest mouse and human palate development is guided by PCP-Prickle1 signaling that is probably not downstream of Vangl2. PMID:24689077

Development of electrolytic process in molten salt media for light rare-earth metals production. The metallic cerium electrodeposition

International Nuclear Information System (INIS)

Restivo, T.A.G.

1994-01-01

The development of molten salt process and the respective equipment aiming rare-earth metals recovery was described. In the present case, the liquid cerium metal electrodeposition in a molten electrolytes of cerium chloride and an equimolar mixture of sodium and potassium chlorides in temperatures near 800 C was studied. Due the high chemical reactivity of the rare-earth metals in the liquid state and their molten halides, an electrolytic cell was constructed with controlled atmosphere, graphite crucibles and anodes and a tungsten cathode. The electrolytic process variables and characteristics were evaluated upon the current efficiency and metallic product purity. Based on this evaluations, were suggested some alterations on the electrolytic reactor design and upon the process parameters. (author). 90 refs, 37 figs, 20 tabs

Post-bronchoscopy pneumonia in patients suffering from lung cancer: Development and validation of a risk prediction score.