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Sample records for schamberg disease uncommon

  1. Melioidosis mycotic aneurysm: An uncommon complication of an uncommon disease

    PubMed Central

    Li, Philip H.; Chau, Chi Hung; Wong, Poon Chuen

    2014-01-01

    Melioidosis is often considered an exotic and uncommon disease in most parts of the world. However it is an endemic disease in Southeast Asia and Northern Australia with an expanding distribution. Melioidosis can involve almost any organ and can deteriorate rapidly. In this report, we describe a rapidly fatal case of a mycotic aneurysm associated with melioidosis despite aggressive antibiotic therapy. The morbidity and mortality of this uncommon complication remains high despite prompt diagnosis and treatment. Especially when treating persistent/recurrent melioidosis, the physician's caution to the development of mycotic aneurysms is imperative so that early treatment and surgical intervention may be considered. PMID:26029577

  2. Uncommon causes of occupational interstitial lung diseases.

    PubMed

    Gong, H

    1996-09-01

    Uncommon causes of occupational interstitial lung disease, or pneumoconiosis, are being increasingly recognized and diagnosed. The fibrogenic potential of numerous types of respirable inorganic particles remains poorly understood but is significantly determined by lung deposition and clearance, the agent's size and solubility, host susceptibility, and other factors. Microanalytic techniques have improved the identification of uncommon or unusual biopersistent particles or elements in fibrotic lung tissue. Recent findings in workers exposed to manmade vitreous fibers, silicon carbide, talc, titanium, cerium, and polyvinyl chloride provide new clinical insights into not only their specific fibrogenic capabilities but also in the broader appreciation that many cases of unexplained interstitial lung disease may be caused by occupational exposures to one or more uncommon airborne substances. PMID:9363175

  3. Whitmore's disease: an uncommon urological presentation

    PubMed Central

    Naganathan, Karthickeyan; Pillai, Sunil Bhaskara; Kumar, Praveen; Hegde, Padmaraj

    2014-01-01

    The incidence of prostatic abscesses has much decreased in the antibiotic era. We present an uncommon cause of prostatic abscess secondary to melioidosis, also known as Whitmore's disease or pseudoglanders. The disease is endemic in South East Asia and Australia. Although India is considered endemic for Burkholderia pseudomallei, the causative organism of melioidosis, not many cases have been reported. Most of the reported cases from India are from the South-West coastal regions of Kerala and Karnataka, Vellore, West Bengal and Bihar. Our index patient was successfully treated with parenteral antibiotics and endoscopic deroofing of the abscess. PMID:24518392

  4. Goodpasture's Disease: An Uncommon Disease With an Atypical Clinical Course.

    PubMed

    Shiferaw, Bethel; Miro, Viktor; Smith, Carroll; Akella, Jagadish; Chua, Walter; Kim, Zae

    2016-01-01

    Goodpasture's disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinician's need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists. PMID:26668684

  5. Macroscopic Hydatiduria: An Uncommon Pathognomonic Presentation of Renal Hydatid Disease

    PubMed Central

    HAMIDI MADANI, Ali; ENSHAEI, Ahmad; POURREZA, Farshid; ESMAEILI, Samaneh; HAMIDI MADANI, Mohammad

    2015-01-01

    Isolated renal hydatid disease is a rare endemic infestation caused by larval form of Echinococcus granulosus. Hydatiduria is an uncommon presentation of renal hydatid disease. In 2012 a 34-year-old female referred to Razi Hospital, Rasht, Iran with complaints of right flank pain and grape-like material in urine. Diagnosis was made by ultrasonography and CT scan. The patient was treated surgically with nephrectomy in combination with perioperative chemotherapy with albendazol. PMID:26587504

  6. Macroscopic Hydatiduria: An Uncommon Pathognomonic Presentation of Renal Hydatid Disease.

    PubMed

    Hamidi Madani, Ali; Enshaei, Ahmad; Pourreza, Farshid; Esmaeili, Samaneh; Hamidi Madani, Mohammad

    2015-09-01

    Isolated renal hydatid disease is a rare endemic infestation caused by larval form of Echinococcus granulosus. Hydatiduria is an uncommon presentation of renal hydatid disease. In 2012 a 34-year-old female referred to Razi Hospital, Rasht, Iran with complaints of right flank pain and grape-like material in urine. Diagnosis was made by ultrasonography and CT scan. The patient was treated surgically with nephrectomy in combination with perioperative chemotherapy with albendazol. PMID:26587504

  7. Just a sore throat? Uncommon causes of significant respiratory disease

    PubMed Central

    Wahab, Dalia; Bichard, Julia; Shah, Anand; Mann, Bhupinder

    2013-01-01

    We present two uncommon underlying causes of a sore throat which, if missed or delayed in diagnosis, can lead to disastrous consequences. Our first case is of Lemierre's syndrome diagnosed in a 21-year-old man presenting with a 5-day history of sore throat, fever, right-sided pleuritic chest pain and bilateral pulmonary nodules on CT imaging. Fusobacterium necrophorum cultured from peripheral blood and an occluded left internal jugular vein on ultrasound lead to an eventual diagnosis. Our second case presents a 29-year-old woman with a 5-day history of sore throat, fever and right-sided pleuritic chest pain. A left-sided quinsy was diagnosed and aspirated and the patient was discharged home. She represented shortly with worsening pleuritic pain and was found to have a right-sided pleural effusion with descending mediastinitis originating from the tonsillar abscess. Delayed diagnosis resulted in open thoracotomy, decortication and prolonged intravenous antibiotics. PMID:23632177

  8. Uncommon lymphadenopathies of immunopathogenesis can be misinterpreted as malignant diseases.

    PubMed

    Vrczy, Lszl; Ills, Arpd; Gergely, Lajos; Simon, Zsfia; Bassam, Ali; Krencs, Lszl

    2007-06-01

    Lymphadenomegaly is a common sign of benign and malignant disorders. In our practice, only every fifth patient is found to have primary or secondary nodal malignancy. Benign disorders, including banal infections and other non-neoplastic conditions, however, cause most of the cases. Among these, there are some rare entities, resulting in persistent lymphadenopathy that may cause differential diagnostic problems in the daily practice. We report here three patients, having Rosai-Dorfman disease, multicentric Castleman's disease and Kikuchi's lymphadenitis, who exemplify such cases. Our purpose with this presentation is to emphasise importance of vigorous co-operation between clinicians and pathologists. In general, it is imperative to prefer specialised haematopathological laboratories that may facilitate proper diagnosis. PMID:17160684

  9. Recovery of uncommon bacteria from blood: association with neoplastic disease.

    PubMed Central

    Beebe, J L; Koneman, E W

    1995-01-01

    Table 6 is a summary of the organisms discussed with a listing of the environmental source, the endogenous source, the predisposing factors including neoplasms, and the postulated mechanisms by which the organism can gain access to the circulation. The evidence considered indicates that the entrance of one of these microorganisms into the bloodstream of a human being depends on the presence of multiplicity of predisposing factors. In the majority of cases of bacteremia due to one of these unusual organisms, two or more predisposing factors are present. Certain predisposing factors, such as cancer chemotherapy or intravenous catheterization, often provide a barrier break, while others, such as liver disease, may render the host immune system less capable of clearing organisms from the circulation. For organisms such as Campy-lobacter, Listeria, and Salmonella spp., attributes that allow the invasion of a healthy host are present and seem to be enhanced by the simultaneous presence of a predisposing condition, such as liver disease, in the host. Although somewhat fragmentary, a number of individual case reports describe bacteremia due to one of these organisms occurring weeks to years after surgery and after other therapeutic measures had effected a supposed cure of a cancer. It may be speculated that cancer patients, even after a cure, are still susceptible to bloodstream invasion by one of the aforementioned organisms by virtue of the presence of one or more predisposing metabolic, physiologic, or immunologic factors, even though these factors may be cryptic. The predominance of hematologic malignancies among cases of bacteremia due to these unusual organisms is also apparent. Although, as pointed out by Keusch (169), the reduction in the performance of immune function in hematologic malignancies compared with solid tumors is likely to be responsible, other associations of certain organisms with specific neoplasms warrant further examination. The frequency of bloodstream infections of Salmonella typhimurium and Capno-cytophaga canimorsus in Hodgkin's disease patients seems likely due to a particular mechanism which infection by these species is favored. The specific nature of these mechanisms remains to be determined. The recovery of any unusual bacterium from blood should warrant a careful consideration of the possibility of underlying disease, especially cancer. Microbiologists should advise clinicians of the unusual nature of the identified organism and provide the counsel that certain neoplastic processes, often accompanied by neutropenia, render the human host susceptible to invasion by almost any bacterium. The recovery of such organisms as C. septicum or S. bovis should prompt the clinician to aggressively seek to identify an occult neoplasm if one has not yet been diagnosed. PMID:7553569

  10. Drug Induced Steatohepatitis: An Uncommon Culprit of a Common Disease.

    PubMed

    Rabinowich, Liane; Shibolet, Oren

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver disease in developed countries. Its frequency is increasing in the general population mostly due to the widespread occurrence of obesity and the metabolic syndrome. Although drugs and dietary supplements are viewed as a major cause of acute liver injury, drug induced steatosis and steatohepatitis are considered a rare form of drug induced liver injury (DILI). The complex mechanism leading to hepatic steatosis caused by commonly used drugs such as amiodarone, methotrexate, tamoxifen, valproic acid, glucocorticoids, and others is not fully understood. It relates not only to induction of the metabolic syndrome by some drugs but also to their impact on important molecular pathways including increased hepatocytes lipogenesis, decreased secretion of fatty acids, and interruption of mitochondrial ?-oxidation as well as altered expression of genes responsible for drug metabolism. Better familiarity with this type of liver injury is important for early recognition of drug hepatotoxicity and crucial for preventing severe forms of liver injury and cirrhosis. Moreover, understanding the mechanisms leading to drug induced hepatic steatosis may provide much needed clues to the mechanism and potential prevention of the more common form of metabolic steatohepatitis. PMID:26273591

  11. Drug Induced Steatohepatitis: An Uncommon Culprit of a Common Disease

    PubMed Central

    Rabinowich, Liane; Shibolet, Oren

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver disease in developed countries. Its frequency is increasing in the general population mostly due to the widespread occurrence of obesity and the metabolic syndrome. Although drugs and dietary supplements are viewed as a major cause of acute liver injury, drug induced steatosis and steatohepatitis are considered a rare form of drug induced liver injury (DILI). The complex mechanism leading to hepatic steatosis caused by commonly used drugs such as amiodarone, methotrexate, tamoxifen, valproic acid, glucocorticoids, and others is not fully understood. It relates not only to induction of the metabolic syndrome by some drugs but also to their impact on important molecular pathways including increased hepatocytes lipogenesis, decreased secretion of fatty acids, and interruption of mitochondrial β-oxidation as well as altered expression of genes responsible for drug metabolism. Better familiarity with this type of liver injury is important for early recognition of drug hepatotoxicity and crucial for preventing severe forms of liver injury and cirrhosis. Moreover, understanding the mechanisms leading to drug induced hepatic steatosis may provide much needed clues to the mechanism and potential prevention of the more common form of metabolic steatohepatitis. PMID:26273591

  12. Goodpastures Disease: An Uncommon Disease With an Atypical Clinical Course

    PubMed Central

    Shiferaw, Bethel; Miro, Viktor; Smith, Carroll; Akella, Jagadish; Chua, Walter; Kim, Zae

    2016-01-01

    Goodpastures disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinicians need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists. PMID:26668684

  13. Polycystic Thyroid Disease in Pediatric Patients: An Uncommon Cause of Hypothyroidism.

    PubMed

    Naranjo, Isaac Daimiel; Robinot, David Coca; Rojo, Jaime Cruz; Ponferrada, Miguel Rasero

    2016-01-01

    Polycystic thyroid disease has been described as a rare cause of hypothyroidism. This uncommon entity has been reported in adults within areas with high iodine intake. Sonographic findings of multiple small thin-walled simple thyroid cysts in the context of hypothyroidism without thyroid autoantibodies are highly suggestive of this diagnosis. To our knowledge, we report the first 2 cases of polycystic thyroid disease in pediatric patients in Europe. PMID:26635255

  14. Polytomous disease mapping to detect uncommon risk factors for related diseases.

    PubMed

    Dreassi, Emanuela

    2007-08-01

    A statistical model for jointly analysing the spatial variation of incidences of three (or more) diseases, with common and uncommon risk factors, is introduced. Deaths for different diseases are described by a logit model for multinomial responses (multinomial logit or polytomous logit model). For each area and confounding strata population (i.e. age-class, sex, race) the probabilities of death for each cause (the response probabilities) are estimated. A specic disease, the one having a common risk factor only, acts as the baseline category. The log odds are decomposed additively into shared (common to diseases different by the reference disease) and specic structured spatial variability terms, unstructured unshared spatial terms and confounders terms (such as age, race and sex) to adjust the crude observed data for their effects. Disease specic spatially structured effects are estimated; these are considered as latent variables denoting disease-specic risk factors. The model is presented with reference to a specic application. We considered the mortality data (from 1990 to 1994) relative to oral cavity, larynx and lung cancers in 13 age groups of males, in the 287 municipalities of Region of Tuscany (Italy). All these pathologies share smoking as a common risk factor; furthermore, two of them (oral cavity and larynx cancer) share alcohol consumption as a risk factor. All studies suggest that smoking and alcohol consumption are the major known risk factors for oral cavity and larynx cancers; nevertheless, in this paper, we investigate the possibility of other different risk factors for these diseases, or even the presence of an interaction effect (between smoking and alcohol risk factors) but with different spatial patterns for oral and larynx cancer. For each municipality and age-class the probabilities of death for each cause (the response probabilities) are estimated. Lung cancer acts as the baseline category. The log odds are decomposed additively into shared (common to oral cavity and larynx diseases) and specic structured spatial variability terms, unstructured unshared spatial terms and an age-group term. It turns out that oral cavity and larynx cancer have different spatial patterns for residual risk factors which are not the typical ones such as smoking habits and alcohol consumption. But, possibly, these patterns are due to different spatial interactions between smoking habits and alcohol consumption for the first and the second disease. PMID:17634979

  15. Multimodality imaging of common and uncommon peritoneal diseases: a review for radiologists.

    PubMed

    Vicens, Rafael A; Patnana, Madhavi; Le, Ott; Bhosale, Priya R; Sagebiel, Tara L; Menias, Christine O; Balachandran, Aparna

    2015-02-01

    Peritoneal disease can be caused by a wide spectrum of pathologies. While peritoneal disease is usually caused by primary or secondary malignancies, benign diseases can occur and mimic malignancies. This article begins with an overview of peritoneal embryology and anatomy followed by a detailed description of the multimodality imaging appearance of peritoneal diseases. Common diseases include peritoneal carcinomatosis, pseudomyxoma peritonei, lymphomatosis, sarcomatosis, and tuberculous peritonitis. The uncommon diseases which cause peritoneal disease include desmoid fibromatosis, desmoplastic small round cell tumor, malignant mesothelioma, well-differentiated mesothelioma, multicystic mesothelioma, papillary serous carcinoma, leiomyomatosis, extramedullary hematopoiesis, inflammatory pseudotumor and amyloidosis. This manuscript will help the radiologist become familiar with the different peritoneal spaces, pathways of spread, multimodality imaging appearance and differential diagnoses of peritoneal diseases in order to report the essential information for surgeons and oncologists to plan treatment. PMID:25139643

  16. A review of uncommon cytopathologic diagnoses of pleural effusions from a chest diseases center in Turkey

    PubMed Central

    Cakir, Ebru; Demirag, Funda; Aydin, Mehtap; Erdogan, Yurdanur

    2011-01-01

    Background: After pneumonia, cancer involving the pleura is the leading cause of exudative pleural effusion. Cytologic examination of pleural effusions is an important initial step in management of malignant effusions. The aim of this study is to evaluate the spectrum of uncommon malignant pleural effusions in a chest disease center in Turkey. Materials and Methods: A retrospective study of samples of pleural effusions submitted to Ataturk Chest Diseases and Chest Surgery Education and Research Hospital Department of Pathology between March 2005 and November 2008 was performed. Results: Out of a total of 4684 samples reviewed 364 (7.8%) were positive for cancer cells. Of the malignant pleural effusions 295 (81%) were classified as adenocarcinoma or carcinoma not otherwise specified (NOS). Pleural effusion specimens revealing a diagnosis other than adenocarcinoma/carcinoma NOS were: 32 (8.8%) malignant mesotheliomas, 14 (3.8%) small cell carcinomas, 13 (3.5%) hematolymphoid malignancies and 10 (2.7%) squamous cell carcinoma. Hematolymphoid malignancies included non- Hodgkin lymphoma (diffuse B large cell lymphoma, mantle cell lymphoma), multiple myeloma, chronic myeloid leukemia, and acute myeloid leukemia. Conclusions: Despite that adenocarcinoma is the most common cause of malignant pleural effusions, there is a significant number of hematological and non-hematological uncommon causes of such effusions. Cytopathologists and clinicians must keep in mind these uncommon entities in routine practice for an accurate diagnosis. PMID:21799700

  17. A Case of Hemophagocytic Syndrome due to Tuberculosis: Uncommon Manifestation of a Common Disease

    PubMed Central

    Singha, Arijit; Mukherjee, Adreesh; Dasgupta, Riddhi; Das, Tapas

    2014-01-01

    Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is the manifestation of immune dysregulation. It is associated with ineffective but exaggerated immune response and infiltration of active lymphocytes and histiocytes in various organs. This devastating clinical condition has myriad of clinical and biochemical manifestations such as fever, splenomegaly, pancytopenia, hypertrygliceridemia, and hyperferritinemia. It can be either primary or secondary. Primary HLH usually presents in childhood. Secondary HLH occurs due to infection mostly viruses but other aetiologies are also important as early detection and treatment may improve survival. Hemophagocytosis due to tuberculosis is uncommon. Only handful of cases have been reported mostly in immunocompromised patients. We report a case of hemophagocytic syndrome associated with disseminated tuberculosis in an immunocompetent women highlighting early diagnosis and treatment is a demanding need in this devastating disease. PMID:25404945

  18. Uncommon congenital and acquired aortic diseases: role of multidetector CT angiography.

    PubMed

    Kimura-Hayama, Eric T; Melndez, Gabriela; Mendizbal, Ana L; Meave-Gonzlez, Aloha; Zambrana, Greby Fernando B; Corona-Villalobos, Celia P

    2010-01-01

    State-of-the-art multidetector computed tomographic (CT) technology has replaced invasive angiography for evaluation of patients suspected to have aortic disease. Although most aortic disease is associated with atherosclerosis (ie, aneurysms and dissection), the spectrum of aortic disease is vast and includes various congenital and acquired entities. Radiologists should also be familiar with uncommon aortic diseases, which are divided into those that are congenital in origin and acquired disorders, and with their findings at multidetector CT. The first group includes patent ductus arteriosus, aortic hypoplasia, aortic coarctation, interrupted aortic arch, aortopulmonary window, common arterial trunk, supravalvular aortic stenosis, and vascular rings. The acquired disorders include aortic dissection due to extension of a coronary artery dissection, Marfan syndrome, large-vessel vasculitis such as Takayasu arteritis, and mycotic aneurysms. Finally, specific conditions associated with therapeutic maneuvers--such as recoarctation, stent-graft rupture, and endoleaks--can also be assessed with multidetector CT. Multidetector CT is an alternative tool helpful in establishing the primary diagnosis, defining anatomic landmarks and their relationships, and identifying associated cardiovascular anomalies. It is also an adjunct in the evaluation of complications during follow-up. PMID:20083587

  19. Nodular fasciitis: an uncommon disease with common medical management challenges at a remote Naval Hospital.

    PubMed

    Spinelli, Nicholas; Khorassani, Nima

    2013-09-01

    Nodular fasciitis is a rare benign soft tissue lesion that is often confused with malignant sarcoma, which can make management of this pathology challenging. We present here a case of head and neck nodular fasciitis that was managed at a remote U.S. Naval Hospital with limited diagnostic and therapeutic resources. The aim of this article is to bring to light this uncommon pathology so that it can be given its due consideration in the differential diagnosis from both a clinical and pathologic perspective. However, the more important purpose of this article is to highlight the complex decision-making process that sometimes occurs when evaluating patients within a medical infrastructure that is significantly less than that of a typical military treatment facility or U.S. hospital. Young surgeons and other providers may find this discussion useful before deploying, whether it be to a remote land-based facility or to an aircraft carrier. PMID:24005559

  20. [Narcolepsy with and without cataplexy: an uncommon disabling and unrecognized disease].

    PubMed

    Merino-Andru, M; Martnez-Bermejo, A

    2009-12-01

    Although narcolepsy is a relatively uncommon condition, its impact on a child's life can be dramatic and disabling. Narcolepsy is characterized by excessive daytime sleepiness (EDS), with brief "sleep attacks" at very unusual times and usually associated with cataplexy (sudden loss of muscle control while awake, resulting in a fall, triggered by laughter). Other symptoms frequently reported are sleep paralysis (feeling of being unable to move or speak, even totally aware), hypnagogic hallucinations (vivid dreamlike experiences difficult to distinguish from reality) or disturbed night time sleep. Some children also experience depression or overweight-obesity. Although narcolepsy has been thoroughly studied, the exact cause is unknown. It appears to be a disorder of cerebral pathways that control sleep and wakefulness, involving dorsolateral hypothalamus and hypocretin. A genetic factor has been suggested, but narcolepsy in relatives is rare. Researchers have suggested that a set of genes combines with additional factors in a person's life to cause narcolepsy. The effective treatment of narcolepsy requires not only medication (usually stimulants, antidepressants and sodium oxybate), but also adjustments in life-style (scheduled naps). Management of this condition in children demands a comprehensive approach to the patient, that includes a correct diagnosis, pharmacological and non-pharmacological treatment and adjustments in the environment. These strategies can improve the child's self-esteem and ability to obtain a good education. PMID:19892609

  1. Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

    PubMed Central

    Nagappa, Madhu; Taly, Arun B.; Mahadevan, Anita; Pooja, M.; Bindu, P. S.; Chickabasaviah, Y. T.; Gayathri, N.; Sinha, Sanjib

    2016-01-01

    Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. PMID:27011649

  2. Kimura's disease: an uncommon cause of head and neck masses with potentially serious sequelae

    PubMed Central

    Bobinskas, Alexander M.; Chandu, Arun; Nastri, Alf L.

    2015-01-01

    Kimura's disease (KD) typically presents as a mass in the head and neck region in association with eosinophilia and elevated serum IgE. Excisional biopsy is often required in order to obtain an adequate sample for histological diagnosis and exclude malignancy. If suspected, patients should also be investigated for renal involvement as this may complicate KD. Treatment options include surgical excision and medical therapies such as corticosteroids depending on the extent and severity of disease. PMID:26499315

  3. Kimura's disease: an uncommon cause of head and neck masses with potentially serious sequelae.

    PubMed

    Bobinskas, Alexander M; Chandu, Arun; Nastri, Alf L

    2015-01-01

    Kimura's disease (KD) typically presents as a mass in the head and neck region in association with eosinophilia and elevated serum IgE. Excisional biopsy is often required in order to obtain an adequate sample for histological diagnosis and exclude malignancy. If suspected, patients should also be investigated for renal involvement as this may complicate KD. Treatment options include surgical excision and medical therapies such as corticosteroids depending on the extent and severity of disease. PMID:26499315

  4. A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome.

    PubMed

    Mishra, Deepak Kumar; Sharma, Anil; Gautam, Shalima; Kawar, Ramesh; Goyal, B K

    2014-11-01

    Complete heart block has a varied aetiology; commoner being ischaemia and senile degeneration of AV node. In this article we report a case of complete heart block (AV nodal) in patient of Kearns Sayre Syndrome who has incidently SA node disease also which is further rarer in this disorder. PMID:26281482

  5. High Incidence of Invasive Group A Streptococcus Disease Caused by Strains of Uncommon emm Types in Thunder Bay, Ontario, Canada.

    PubMed

    Athey, Taryn B T; Teatero, Sarah; Sieswerda, Lee E; Gubbay, Jonathan B; Marchand-Austin, Alex; Li, Aimin; Wasserscheid, Jessica; Dewar, Ken; McGeer, Allison; Williams, David; Fittipaldi, Nahuel

    2016-01-01

    An outbreak of type emm59 invasive group A Streptococcus (iGAS) disease was declared in 2008 in Thunder Bay District, Northwestern Ontario, 2 years after a countrywide emm59 epidemic was recognized in Canada. Despite a declining number of emm59 infections since 2010, numerous cases of iGAS disease continue to be reported in the area. We collected clinical information on all iGAS cases recorded in Thunder Bay District from 2008 to 2013. We also emm typed and sequenced the genomes of all available strains isolated from 2011 to 2013 from iGAS infections and from severe cases of soft tissue infections. We used whole-genome sequencing data to investigate the population structure of GAS strains of the most frequently isolated emm types. We report an increased incidence of iGAS in Thunder Bay compared to the metropolitan area of Toronto/Peel and the province of Ontario. Illicit drug use, alcohol abuse, homelessness, and hepatitis C infection were underlying diseases or conditions that might have predisposed patients to iGAS disease. Most cases were caused by clonal strains of skin or generalist emm types (i.e., emm82, emm87, emm101, emm4, emm83, and emm114) uncommonly seen in other areas of the province. We observed rapid waxing and waning of emm types causing disease and their replacement by other emm types associated with the same tissue tropisms. Thus, iGAS disease in Thunder Bay District predominantly affects a select population of disadvantaged persons and is caused by clonally related strains of a few skin and generalist emm types less commonly associated with iGAS in other areas of Ontario. PMID:26491184

  6. How did uncommon disorders become 'rare diseases'? History of a boundary object.

    PubMed

    Huyard, Caroline

    2009-05-01

    The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America, is a boundary object. As such, it has different specific local uses: a meaningless category for physicians, it relates to the patients' experience of illness, whereas the pharmaceutical industry first considered it as being synonymous with small markets and then with innovation. Public bodies contributed to framing a common and blurred use, based on a statistical definition whose purpose was to foster co-operation between the four groups involved in the issue. In the definition process of the category of rare diseases, the key actors were the patients and public bodies, not medical professionals or the pharmaceutical industry. PMID:19397760

  7. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease.

    PubMed

    Haroche, Julien; Abla, Oussama

    2015-12-01

    Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and Erdheim-Chester disease (ECD) are non-Langerhans cell (non-LCH) disorders arising from either a dendritic or a macrophage cell. RDD is a benign disorder that presents with massive lymphadenopathy, but can have extranodal involvement. In most cases, RDD is self-limited and observation is the standard approach. Treatment is restricted to patients with life-threatening, multiple-relapsing, or autoimmune-associated disease. JXG is a pediatric histiocytosis characterized by xanthomatous skin lesions that usually resolve spontaneously. In a minority of cases, systemic disease can occur and can be life threatening. Juvenile myelomonocytic leukemia (JMML), as well as germline mutations in NF1 and NF2, have been reported in children with JXG. Recent whole-exome sequencing of JXG cases did not show the BRAF-V600E mutation, although 1 patient had PI3KCD mutation. ECD is an adult histiocytosis characterized by symmetrical long bone involvement, cardiovascular infiltration, a hairy kidney, and retroperitoneal fibrosis. Central nervous system involvement is a poor prognostic factor. Interferon-? is the standard as front-line therapy, although cladribine and anakinra can be effective in a few refractory cases. More than one-half of ECD patients carry the BRAF-V600E mutation. Currently, >40 patients worldwide with multisystemic, refractory BRAF-V600E(+) ECD have been treated with vemurafenib, a BRAF inhibitor, which was found to be highly effective. Other recurrent mutations of the MAP kinase and PI3K pathways have been described in ECD. These discoveries may redefine ECD, JXG, and LCH as inflammatory myeloid neoplasms, which may lead to new targeted therapies. PMID:26637774

  8. Mitomycin-based hepatic arterial infusion chemotherapy for solitary ampullary cancer liver metastasis: an unusual treatment for an uncommon disease.

    PubMed

    Vitale, Felice V; Romeo, Placido; Luciani, Bruno; Raffaele, Mario; Colina, Paolo; Ferra, Francesco

    2015-10-01

    Ampullary carcinoma is an uncommon gastrointestinal disease. Its natural history is often characterized by the occurrence of liver metastases. Among patients who undergo pancreatoduodenectomy, those presenting with lymph nodes involvement are more prone to early distant disease relapse. In this report, a patient previously diagnosed with ampullary carcinoma had been treated with curative surgery. After subsequent adjuvant gemcitabine, the patient developed significant myelotoxicity and suffered from a single liver metastasis a few months later. A hepatic intra-arterial mitomycin plus fluorouracil-based chemotherapy was administered in order to avoid any serious systemic toxicity. The treatment was well tolerated and no serious side effects occurred. Extra-hepatic cancer relapse, involving intra-thoracic and abdominal lymph nodes, was observed not long after the initial intra-hepatic almost complete response. In conclusion, the locoregional chemotherapy administration was effective in overcoming any systemic toxicities and showed activity against the liver metastasis but it did not prevent extra-hepatic cancer dissemination. PMID:24748580

  9. From past sailors' eras to the present day: scurvy as a surprising manifestation of an uncommon gastrointestinal disease.

    PubMed

    Branquinho, Diogo Ferreira; Pinto-Gouveia, Miguel; Mendes, Sofia; Sofia, Carlos

    2015-01-01

    A 45-year-old man presented with follicular exanthema in his lower limbs, alternating bowel habits and significant weight loss. His medical history included seronegative arthritis, bipolar disease and an inconclusive diagnostic laparoscopy. Diagnostic work up revealed microcytic anaemia and multivitamin deficiency. Skin biopsy of the exanthema suggested scurvy. Owing to these signs of malabsorption, upper endoscopy with duodenal biopsies was performed, exhibiting villous atrophy and extensive periodic acid-Schiff-positive material in the lamina propria, therefore diagnosing Whipple's disease (WD). After starting treatment with ceftriaxone and co-trimoxazole, an impressive recovery was noted, as the wide spectrum of malabsorption signs quickly disappeared. After a year of antibiotics, articular and cutaneous manifestations improved, allowing the patient to stop taking corticosteroids and antidepressants. This truly unusual presentation reflects the multisystemic nature of WD, often leading to misdiagnosis of other entities. Scurvy is a rare finding in developed countries, but its presence should raise suspicion for small bowel disease. PMID:26376699

  10. Diurnal and twenty-four hour patterning of human diseases: acute and chronic common and uncommon medical conditions.

    PubMed

    Smolensky, Michael H; Portaluppi, Francesco; Manfredini, Roberto; Hermida, Ramon C; Tiseo, Ruana; Sackett-Lundeen, Linda L; Haus, Erhard L

    2015-06-01

    The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; neural: frontal, parietal, temporal, and occipital lobe seizures, Parkinson's and Alzheimer's disease, hereditary progressive dystonia, and pain (cancer, post-surgical, diabetic neuropathic and foot ulcer, tooth caries, burning mouth and temporomandibular syndromes, fibromyalgia, sciatica, intervertebral vacuum phenomenon, multiple sclerosis muscle spasm, and migraine, tension, cluster, hypnic, and paroxysmal hemicranial headache); renal: colic and nocturnal enuresis and polyuria; ocular: bulbar conjunctival redness, keratoconjunctivitis sicca, intraocular pressure and anterior ischemic optic neuropathy, and recurrent corneal erosion syndrome; psychiatric/behavioral: major and seasonal affective depressive disorders, bipolar disorder, parasuicide and suicide, dementia-associated agitation, and addictive alcohol, tobacco, and heroin cravings and withdrawal phenomena; plus autoimmune and musculoskeletal: rheumatoid arthritis, osteoarthritis, axial spondylarthritis, gout, Sjgren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 hpatterns of human pathophysiology informs research of their underlying circadian and other endogenous mechanisms, external temporal triggers, and more effective patient care entailing clinical chronopreventive and chronotherapeutic strategies. PMID:25129839

  11. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

    PubMed

    Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle

    2014-08-01

    Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript. PMID:23864591

  12. An Uncommon Case of Chronic Tubercular Appendicitis

    PubMed Central

    Maharjan, Sushna

    2015-01-01

    Tuberculosis (TB) is a common disease that ranks as the second leading cause of death from an infectious disease worldwide, after the human immunodeficiency virus (HIV). However, primary TB of the appendix is rare and may or may not be associated with specific clinical features. Thus, diagnosis is made only after histopathological examination. It suggests that all surgically removed appendices should be subjected to histopathological examination. This reported case is an uncommon case of chronic tubercular appendicitis. PMID:26649216

  13. [An Uncommon Diagnosis].

    PubMed

    Leonhard, Nicole; Aeberhard, Carla; Birrenbach, Tanja; Stanga, Zeno

    2015-10-14

    We report on a 61-year-old patient who suffered from severe protein-energy malnutrition due to an inadequately treated exocrine pancreatic insufficiency. In this context, a thiamine deficiency was not recognized and there were clinical manifestations of beriberi disease with decompensated biventricular heart failure. In the course of time, a manifest niacin deficiency (pellagra) with dermatitis, diarrhea and persistent delirium occurred, which was recognized and could be treated. We highlight differential diagnostic considerations about the consequences and the treatment of malnutrition, with special focus on the classical deficiency diseases beriberi and pellagra. PMID:26463907

  14. Common surgery, uncommon complication

    PubMed Central

    Akdeniz, Hande; Ozer, Kadri; Dikmen, Adile; Kocer, Uger

    2015-01-01

    Ingrown nail surgery is the one of the most common surgeries in outpatient clinics that are generally perfomed in response to patient complaints. Still, making simple observations, taking patient histories and conducting further tests are often neglected by outpatient clinics. Consequently, it is important to be aware if ingrown nail is associated with any underlying diseases that can lead to major complications. In this article, we report on two cases ending in amputation that were performed with Winograd’s partial matrix excision procedure for ingrown nails. Such a complication is rare, unexpected, and most unwanted in forefoot surgery. After a detailed analysis of the situation, we discovered that both patients were smokers, and one of them had Buerger’s disease. These conditions led to the ingrown nails in addition to poor wound healing. This case report emphasizes the fact that even when performing minor procedures, obtaining a detailed history and conducting an examination are of paramount importance. Patient selection is also a considerable factor, especially for patients who are smokers, who may experience a worst case surgical scenario. PMID:26693080

  15. Common surgery, uncommon complication.

    PubMed

    Akdeniz, Hande; Ozer, Kadri; Dikmen, Adile; Kocer, Uger

    2015-10-01

    Ingrown nail surgery is the one of the most common surgeries in outpatient clinics that are generally perfomed in response to patient complaints. Still, making simple observations, taking patient histories and conducting further tests are often neglected by outpatient clinics. Consequently, it is important to be aware if ingrown nail is associated with any underlying diseases that can lead to major complications. In this article, we report on two cases ending in amputation that were performed with Winograd's partial matrix excision procedure for ingrown nails. Such a complication is rare, unexpected, and most unwanted in forefoot surgery. After a detailed analysis of the situation, we discovered that both patients were smokers, and one of them had Buerger's disease. These conditions led to the ingrown nails in addition to poor wound healing. This case report emphasizes the fact that even when performing minor procedures, obtaining a detailed history and conducting an examination are of paramount importance. Patient selection is also a considerable factor, especially for patients who are smokers, who may experience a worst case surgical scenario. PMID:26693080

  16. Uncommon and/or bizarre features of dementia.

    PubMed

    Cipriani, Gabriele; Lucetti, Claudio; Danti, Sabrina; Ulivi, Martina; Nuti, Angelo

    2015-03-01

    This study aimed at describing uncommon or bizarre symptoms observed in patients suffering from dementia. Medline and Google scholar searches were conducted for relevant articles, chapters, and books published since 1967. Search terms used included uncommon presentation, behavioural and psychological symptoms, dementia, Alzheimer's disease, and fronto-temporal dementia. Publications found through this indexed search were reviewed for further relevant references. The uncommon symptoms are described as case-reports and there are no systematic investigations. Bizarre behaviours arising late in life should be thoroughly investigated as symptoms of dementia. PMID:24854147

  17. An Uncommon Presentation of Metastatic Melanoma

    PubMed Central

    Reccia, Isabella; Pisanu, Adolfo; Podda, Mauro; Uccheddu, Alessandro

    2015-01-01

    Abstract Metastases to the spleen are rare and are generally part of a multi-visceral metastatic disease. The most common sources of splenic metastases include breast, lung and colorectal malignancies as well as melanoma and ovarian carcinoma. Solitary splenic metastasis is very uncommon. We present a case of a 44-year-old man who presented at our department for gallstones symptoms. He had a past medical history of neck cutaneous melanoma (T3bN0M0—Stage IIb). He had not attended follow-up schedule for personal reasons. However, abdominal ultrasound revealed the presence of a solitary solid lesion in the spleen. Preoperative workup was completed with CT scan that confirmed the presence of a large splenic lesion with subcapsular fluid collection, also compatible with a post-traumatic lesion. Preoperative findings could not exclude malignancy and patient was therefore submitted to surgery. At laparoscopy, a condition of peritoneal melanosis was present. Splenectomy was carried out. Histological report confirmed the peritoneal melanosis and the diagnosis of metastatic spleen lesion from melanoma. Patient was observed, but died of metastatic disease 14 months after surgery. Splenic metastases are uncommon. Isolated metastases from melanoma are rare and could be found several months after primary diagnosis of melanoma. Surgery remains the most effective treatment, especially for metachronous disease, offering the best chance of long-term survival. Prognosis remains poor, as metachronous disease is indicative of aggressive widespread of the disease. PMID:25700306

  18. [Uncommon malformative association (author's transl)].

    PubMed

    Herrero, E; Ruza, F; Martnez-Almoyna, C; Figols, F J

    1975-01-01

    An uncommon malformative association is presented ((hydrocephalus, bilateral renal hypoplasia, aplasia cutis) associated with neonatal gastrointestinal perforation. The bibliography related with these problems is reviewed, discussing the possible relationship between them. The etiological hypothesis is infective, and pathogenic interpretation is pointed out in this context. PMID:1155862

  19. Common and uncommon bilateral adult renal masses

    PubMed Central

    Roy, Anjali; Silverman, Paul M.; Kundra, Vikas

    2012-01-01

    Abstract Masses can involve the kidney unilaterally or bilaterally. The purpose of this article is to review common and uncommon adult renal masses that present bilaterally. Clinical and imaging findings are described. Renal masses that present in a bilateral fashion can have particular clinical and imaging characteristics and knowledge of their presentation enables appropriate diagnosis and management, especially in a multidisciplinary care setting. More commonly found bilateral renal masses that are discussed include metastasis, lymphoproliferative disorders, adult polycystic kidney disease, angiomyolipomas, renal infracts and renal abscesses. Less common bilateral renal masses include transitional cell carcinoma, oncocytoma, and hematomas. PMID:22750134

  20. Uncommon surgical emergencies in neonatology.

    PubMed

    Angotti, R; Bulotta, A L; Ferrara, F; Molinaro, F; Cerchia, E; Meucci, D; Messina, M

    2014-01-01

    Objective. Over the past decade, multiple factors have changed the pattern of neonatal surgical emergencies. An increase in prenatal screenings and the development of neonatal tertiary care centres have changed the clinical approach to these kids. Materials and methods. Between 1995 to 2011 were retrospectively reviewed 34 patients with diagnosis of uncommon rare neonatal surgical emergencies at our institute. We analyzed: sex, gestational age, weight at birth, primary pathology, prenatal diagnosis, associated anomalies, age and weight at surgery, clinical presentation, start of oral feeding and hospitalization. The follow-up was performed at 6,12, 24 and 36 months. Results. There were 21 male and 13 female. The gestational age ranged between 28 and 36 weeks. The weight at birth ranged between 700 and 1400 grams. Oral feeding was started between 4th and 10th postoperative day. The average hospitalization was about 70.47 days. To date, all patients have finished the followup. They are healthy. Conclusion. The outcome of the patients with uncommon surgical emergencies is different based on the etiology. Overall survival is generally good but is influenced by the associated anomalies. PMID:25669890

  1. Uncommon Success: A Conversation with Brett Peiser

    ERIC Educational Resources Information Center

    Meyer, Peter

    2014-01-01

    This article introduces a conversation with Brett Peiser, named chief executive officer of "Uncommon Schools" in July of 2012, along with the principal of North Star Academy Vailsburg Middle School, a charter school in Newark, New Jersey's West Ward. There is no doubt that "Uncommon Schools" has given thousands of

  2. Onychoprotothecosis: An uncommon presentation of protothecosis.

    PubMed

    Gandham, N R; Vyawahare, C R; Chaudhaury, N; Shinde, R A

    2015-01-01

    Onychomycosis is a fairly common condition seen in a dermatology clinic. Dermatophytes Trichophyton and Epidermophyton are the known filamentous fungi implicated. The yeast-like fungi such as Candida less commonly cause Onychomycosis. The genus Prototheca may on preliminary observation resemble yeast-like fungi but a detailed microscopy will reveal the absence of budding and presence of endospores. Onychoprotothecosis is an uncommon presentation of human protothecosis. Of the two Prototheca species (Prototheca zopfii and Prototheca wickerhamii) known to cause the disease, P. wickerhamii has been reported more commonly. We report a culture proven case of this condition caused by P. zopfii. The patient, a 55-year-old housewife presented with discolouration and breaking off of the right thumb and forefinger nails since a period of six months. Samples of nail scrapping sent to the Microbiology Laboratory were culture-positive for Prototheca. Speciation by the automated Vitek-2 system (bioMerieux) identified the isolate as P. zopfii, which was further confirmed at PGI, Chandigarh. PMID:26068353

  3. Uncommon situation and presentation of chronic sclerosing sialadenitis.

    PubMed

    Adouly, T; Adnane, C; Housni, Y; Rouadi, S; Abada, R; Roubal, M; Mahtar, M

    2016-04-01

    Chronic sclerosing sialadenitis of the parotid gland is a very uncommon chronic inflammatory salivary gland disease. Clinically, it presents as a slow-growing painful. Histologically, it showed a chronic inflammation and fibrosis. This case report highlights the clinical, radiological and histological aspects of this disease. We report unusual case of chronic sclerosing sialadenitis of the parotid in a 12-year-old man. CT detected a mass of tissue density in the right parotid. The evolution was marked by spontaneous fistula allowing a surgical biopsy. The mass regressed after corticosteroids. The follow-up was normal. The location, age and presentation make our case very interesting. PMID:26968047

  4. An uncommon presentation of metastatic melanoma: a case report.

    PubMed

    Reccia, Isabella; Pisanu, Adolfo; Podda, Mauro; Uccheddu, Alessandro

    2015-02-01

    Metastases to the spleen are rare and are generally part of a multi-visceral metastatic disease. The most common sources of splenic metastases include breast, lung and colorectal malignancies as well as melanoma and ovarian carcinoma. Solitary splenic metastasis is very uncommon. We present a case of a 44-year-old man who presented at our department for gallstones symptoms. He had a past medical history of neck cutaneous melanoma (T3bN0M0--Stage IIb). He had not attended follow-up schedule for personal reasons. However, abdominal ultrasound revealed the presence of a solitary solid lesion in the spleen. Preoperative workup was completed with CT scan that confirmed the presence of a large splenic lesion with subcapsular fluid collection, also compatible with a post-traumatic lesion.Preoperative findings could not exclude malignancy and patient was therefore submitted to surgery. At laparoscopy, a condition of peritoneal melanosis was present. Splenectomy was carried out. Histological report confirmed the peritoneal melanosis and the diagnosis of metastatic spleen lesion from melanoma. Patient was observed, but died of metastatic disease 14 months after surgery. Splenic metastases are uncommon. Isolated metastases from melanoma are rare and could be found several months after primary diagnosis of melanoma. Surgery remains the most effective treatment, especially for metachronous disease, offering the best chance of long-term survival. Prognosis remains poor, as metachronous disease is indicative of aggressive widespread of the disease. PMID:25700306

  5. Uncommon hepatic tumors: iconographic essay - Part 1*

    PubMed Central

    Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierszenbaum, Marcelo Longo; Bormann, Renata Lilian; Torres, Lucas Rios; D'Ippolito, Giuseppe

    2014-01-01

    Most malignant liver tumors are represented by hepatocellular carcinoma and cholangiocarcinoma; however a variety of other uncommon hepatic lesions might also be found. Common lesions such as hemangioma, focal nodular hyperplasia and metastases are well known and have already been extensively documented in the literature. The diagnosis of typical hepatic lesions may be done with some reliability by means of several imaging methods; on the other hand, uncommon lesions normally represent a diagnostic challenge for the radiologist. In this first part of the study, the authors will approach five uncommon liver tumors - angiosarcoma, angiomyolipoma, cystadenoma/biliary carcinoma, epithelioid hemangioendothelioma, and fibrolamellar hepatocellular carcinoma -, describing their main characteristics and image findings with focus on computed tomography and magnetic resonance imaging. PMID:25741106

  6. Gleason grade progression is uncommon.

    PubMed

    Penney, Kathryn L; Stampfer, Meir J; Jahn, Jaquelyn L; Sinnott, Jennifer A; Flavin, Richard; Rider, Jennifer R; Finn, Stephen; Giovannucci, Edward; Sesso, Howard D; Loda, Massimo; Mucci, Lorelei A; Fiorentino, Michelangelo

    2013-08-15

    Gleason grade is universally used for pathologic scoring of the differentiation of prostate cancer. However, it is unknown whether prostate tumors arise well differentiated and then progress to less differentiated forms or if Gleason grade is an early and largely unchanging feature. Prostate-specific antigen (PSA) screening has reduced the proportion of tumors diagnosed at advanced stage, which allows assessment of this question on a population level. If Gleason grade progresses as stage does, one would expect a similar reduction in high-grade tumors. We studied 1,207 Physicians' Health Study and Health Professionals Follow-up Study participants diagnosed with prostate cancer from 1982 to 2004 and treated with prostatectomy. We compared the distribution of grade and clinical stage across the pre-PSA and PSA screening eras. We re-reviewed grade using the ISUP 2005 revised criteria. The proportion of advanced stage tumors dropped more than six-fold, from the earliest period (12/1982-1/1993), 19.9% stage ? T3, to the latest (5/2000-12/2004), 3% stage T3, none T4. The proportion of Gleason score ? 8 decreased substantially less, from 25.3% to 17.6%. A significant interaction between stage and diagnosis date predicting grade (P = 0.04) suggests that the relationship between grade and stage varies by time period. As the dramatic shift in stage since the introduction of PSA screening was accompanied by a more modest shift in Gleason grade, these findings suggest that grade may be established early in tumor pathogenesis. This has implications for the understanding of tumor progression and prognosis, and may help patients diagnosed with lower grade disease feel more comfortable choosing active surveillance. PMID:23946472

  7. Catalog of Uncommon Facilities in Southern Universities.

    ERIC Educational Resources Information Center

    Southern Regional Education Board, Atlanta, GA.

    This catalog of uncommon facilities in southern universities was developed in an effort to bring about more effective use of existing facilities, to reduce the need for duplicating certain facilities, and to increase learning and research opportunities. All of the facilities listed are available, under certain conditions, for use by students and…

  8. Culture, Relevance, and Schooling: Exploring Uncommon Ground

    ERIC Educational Resources Information Center

    Scherff, Lisa, Ed.; Spector, Karen, Ed.

    2011-01-01

    In "Culture, Relevance, and Schooling: Exploring Uncommon Ground," Lisa Scherff, Karen Spector, and the contributing authors conceive of culturally relevant and critically minded pedagogies in terms of opening up new spatial, discursive, and/or embodied learning terrains. Readers will traverse multiple landscapes and look into a variety of spaces

  9. Uncommon opportunistic yeast bloodstream infections from Qatar.

    PubMed

    Taj-Aldeen, Saad J; AbdulWahab, Atqah; Kolecka, Anna; Deshmukh, Anand; Meis, Jacques F; Boekhout, Teun

    2014-07-01

    Eleven uncommon yeast species that are associated with high mortality rates irrespective of antifungal therapy were isolated from 17/187 (201 episodes) pediatric and elderly patients with fungemia from Qatar. The samples were taken over a 6-year period (January 2004-December 2010). Isolated species included Kluyveromyces marxianus, Lodderomyces elongisporus, Lindnera fabianii, Candida dubliniensis, Meyerozyma guilliermondii, Candida intermedia, Pichia kudriavzevii, Yarrowia lipolytica, Clavispora lusitaniae, Candida pararugosa, and Wickerhamomyces anomalus. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry provided correct identifications compared with molecular analysis testing of the same isolates. Low minimal inhibitory concentrations were found when isavuconazole and voriconazole were used for all uncommon yeast species evaluated in this study. Resistance to antifungal drugs was low and remained restricted to a few species. PMID:24934803

  10. Uncommon mycosis in a patient with diabetes.

    PubMed

    Prasad, Kuruswamy Thurai; Sehgal, Inderpaul Singh; Shivaprakash, M R; Dhooria, Sahajal

    2016-01-01

    Cryptococcosis is a fungal infection that usually occurs in immunocompromised individuals. Meningitis is the most frequent presentation; uncommonly, a disseminated form occurs. Cryptococcosis can sometimes occur in immunocompetent individuals with certain predisposing conditions such as diabetes mellitus. However, disseminated cryptococcosis is exceedingly rare in these individuals. A 48-year-old man presented with a lung mass and was initially suspected to have bronchogenic carcinoma. However, on further evaluation, it turned out to be disseminated cryptococcosis due to Cryptococcus gattii, with pulmonary, pleural and meningeal involvement. PMID:26917800

  11. Is pneumothorax after acupuncture so uncommon?

    PubMed Central

    Bauer, Nicki Eithz; Licht, Peter B.

    2013-01-01

    Acupuncture is one of the most widely used forms of traditional Chinese medicine often referred to as alternative therapy in the Western World and over the past decades it has become increasingly popular in Denmark. Pneumothorax is known as the most common serious complication following acupuncture, but it is quite rarely reported. During a three-month period two patients with pneumothorax caused by acupuncture were admitted to our department. The purpose of this case report is to increase awareness of this complication, which may not be so uncommon. PMID:23991325

  12. Uncommon hepatic tumors: iconographic essay Part 2

    PubMed Central

    Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierzenbaum, Marcelo Longo; Bormann, Renata Lilian; Francisc, Viviane Vieira; DIppolito, Giuseppe

    2014-01-01

    In cases where typical aspects are shown, the diagnosis of most frequent hepatic lesions can be made with some safety by means of several imaging methods; on the other hand, uncommon lesions generally represent a diagnostic challenge for the radiologist. In the present second part of the study, the authors describe four rare hepatic lesions, as follows: primary hepatic lymphoma, myofibroblastic tumor, primary hepatic neuroendocrine tumor and desmoplastic small round cell tumor, approaching their main characteristics and imaging findings with emphasis on computed tomography and magnetic resonance imaging. PMID:25741121

  13. Uncommon Presentation of Triploidy: A Case Report

    PubMed Central

    Pata, zlem; Unlu, Cihat; Tokat, Fatma; Ozdemir, Mucize

    2015-01-01

    A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus biopsy confirmed triploidy. The combination of type I and type II triploidy patterns were seen together in the second trimester of the pregnancy. Although the symptoms due to increased human chorionic levels occured, at the pathologic investigation there were no molar changes in the placenta. Here we report a case of uncommon presentation of triploidy. PMID:26557571

  14. Uncommon Presentation of Triploidy: A Case Report.

    PubMed

    Uzun, I?il; Pata, zlem; Unlu, Cihat; Tokat, Fatma; Ozdemir, Mucize

    2015-10-01

    A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus biopsy confirmed triploidy. The combination of type I and type II triploidy patterns were seen together in the second trimester of the pregnancy. Although the symptoms due to increased human chorionic levels occured, at the pathologic investigation there were no molar changes in the placenta. Here we report a case of uncommon presentation of triploidy. PMID:26557571

  15. Uncommon opportunistic fungi: new nosocomial threats.

    PubMed

    Groll, A H; Walsh, T J

    2001-01-01

    During the past two decades opportunistic fungal infections have emerged as important causes of morbidity and mortality in patients with severe underlying illnesses and compromised host defenses. While Aspergillus and Candida spp. collectively account for the majority of these infections, recent epidemiological trends indicate a shift towards infections by Aspergillus spp., nonalbicans Candida spp., as well as previously uncommon opportunistic fungi. Apart from an expanding number of different Zygomycetes, previously uncommon hyaline filamentous fungi (such as Fusarium species, Acremonium species, Paecilomyces species, Pseudallescheria boydii, and Scedosporium prolificans), dematiaceous filamentous fungi (such as Bipolaris species, Cladophialophora bantiana, Dactylaria gallopava, Exophiala species, and Alternaria species) and yeast-like pathogens (such as Trichosporon species, Blastoschizomyces capitatus, Malassezia species, Rhodotorula rubra and others) are increasingly encountered as causing life threatening invasive infections that are often refractory to conventional therapies. On the basis of past and current trends, the spectrum of fungal pathogens will continue to evolve in the settings of an expanding population of immunocompromised hosts, selective antifungal pressures, and shifting conditions in hospitals and the environment. An expanded and refined drug arsenal, further elucidation of pathogenesis and resistance mechanisms, establishment of in vitro/in vivo correlations, incorporation of pharmacodynamics, combination- and immunotherapies offer hope for substantial progress in prevention and treatment. PMID:11525222

  16. Allergy to Uncommon Pets: New Allergies but the Same Allergens

    PubMed Central

    Daz-Perales, Araceli; Gonzlez-de-Olano, David; Prez-Gordo, Marina; Pastor-Vargas, Carlos

    2013-01-01

    The prevalence of exotic pet allergies has been increasing over the last decade. Years ago, the main allergy-causing domestic animals were dogs and cats, although nowadays there is an increasing number of allergic diseases related to insects, rodents, amphibians, fish, and birds, among others. The current socio-economic situation, in which more and more people have to live in small apartments, might be related to this tendency. The main allergic symptoms related to exotic pets are the same as those described for dog and cat allergy: respiratory symptoms. Animal allergens are therefore, important sensitizing agents and an important risk factor for asthma. There are three main protein families implicated in these allergies, which are the lipocalin superfamily, serum albumin family, and secretoglobin superfamily. Detailed knowledge of the characteristics of allergens is crucial to improvement treatment of uncommon-pet allergies. PMID:24416032

  17. Ossification of a rectal tumor: an uncommon finding.

    PubMed

    Smajda, Stanislas; Danse, Etienne; Mertens de Wilmars, Maud; Humblet, Yves; Kartheuser, Alex; Jouret-Mourin, Anne

    2015-12-01

    The authors report the case of a 29-year-old woman with partially calcified stage cT4N2M0 mucoid adenocarcinoma of the mid-rectum. Concomitant neoadjuvant chemoradiotherapy was administered. Preoperative CT scan and MRI demonstrated stable disease with a marked increase of its mineralized component. Histology confirmed a mucoid adenocarcinoma with ossified matrix. Osteocytes were identified in the tumor. TNM (5th edition) staging was ypT3N2M1. This case illustrates heterotopic ossification of a rectal tumor, a fairly uncommon finding. The mechanism of heterotopic bone formation within gastrointestinal adenocarcinoma has not been fully elucidated. The impact of this particular feature on patient outcome is unknown. PMID:26712056

  18. An uncommon cause of transient neurological dysfunction.

    PubMed

    Farooq, Muhammad U; Bhatt, Archit; Chang, Howard T

    2014-07-01

    Transient neurological dysfunction may be associated with uncommon disorders and should prompt consideration of a broad differential diagnosis when assessing patients with episodic symptoms. The most common causes of transient neurological dysfunction include transient ischemic attack (TIA), seizure disorder, and migraine and its variants. However, underlying unusual pathophysiological processes such as brain tumors can also cause transient neurological dysfunction. Here we present a case of a 68-year-old male with oligodendroglial gliomatosis cerebri (OGC) who presented with TIA-like symptoms. Brain magnetic resonance imaging revealed multiple diffuse T2 hyperintensities within the white and gray matter. Magnetic resonance spectroscopy was suggestive of gliomatosis cerebri and was particularly helpful in this case. The diagnosis of OGC was confirmed by histopathology and molecular genetic studies on brain biopsy tissue. In this report, we discuss the clinical and radiological characteristics of OGC and highlight the unusual presentation of this case. PMID:24982718

  19. An Uncommon Cause of Transient Neurological Dysfunction

    PubMed Central

    Bhatt, Archit; Chang, Howard T.

    2014-01-01

    Transient neurological dysfunction may be associated with uncommon disorders and should prompt consideration of a broad differential diagnosis when assessing patients with episodic symptoms. The most common causes of transient neurological dysfunction include transient ischemic attack (TIA), seizure disorder, and migraine and its variants. However, underlying unusual pathophysiological processes such as brain tumors can also cause transient neurological dysfunction. Here we present a case of a 68-year-old male with oligodendroglial gliomatosis cerebri (OGC) who presented with TIA-like symptoms. Brain magnetic resonance imaging revealed multiple diffuse T2 hyperintensities within the white and gray matter. Magnetic resonance spectroscopy was suggestive of gliomatosis cerebri and was particularly helpful in this case. The diagnosis of OGC was confirmed by histopathology and molecular genetic studies on brain biopsy tissue. In this report, we discuss the clinical and radiological characteristics of OGC and highlight the unusual presentation of this case. PMID:24982718

  20. Interstitial lung disease and profound hypoxaemia in a severely-malnourished child with very severe pneumonia and potential lymph-node tuberculosis: an uncommon but serious co-morbidity.

    PubMed

    Chisti, Mohammod J; Parvin, Irin; Ashraf, Hasan; Saha, Haimanti; Matin, Fariha B; Pietroni, Mark A C

    2013-03-01

    A nine-month old boy was initially admitted at the Acute Respiratory Infection Unit of Dhaka Hospital of icddr,b and soon after transferred to the Intensive Care Unit of the same hospital. The boy had problems of very severe pneumonia (confirmed by radiology), severe hypoxaemia, severe malnutrition, and Down's syndrome. The patient was treated according to the hospital protocol for the management of pneumonia and malnutrition. During the hospital stay, hypoxaemia was persistent with very little improvement of pneumonia; a number of differentials, such as pneumocystis jirovecii pneumonia, lymph-node tuberculosis, were added to the problems. Subsequently, the patient's hypoxaemia improved with the empirical use of antitubercular drugs. However, the patient again developed persistent hypoxaemia and, after unsuccessful treatment for a hospital-acquired pneumonia, the problems further expanded to include interstitial lung disease (ILD). This was confirmed by high-resolution computed tomography, and the patient was treated with prednisolone for 6 months, along with antitubercular drugs. He fully recovered from ILD, hypoxaemia, and pneumonia both clinically and radiologically. Therefore, severely-malnourished children having wet cough and pneumonia with persistent hypoxaemia should be assessed for the possible existence of interstitial lung disease. This may help provide a prompt and appropriate management to reduce morbidity and deaths in such patients. PMID:23617214

  1. A content analysis of cognitive and affective uses of patient support groups for rare and uncommon vascular diseases: comparisons of may thurner, thoracic outlet, and superior mesenteric artery syndrome.

    PubMed

    Walker, Kimberly K

    2015-01-01

    Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses. PMID:24877701

  2. Uncommon Sense - The Heretical Nature of Science

    NASA Astrophysics Data System (ADS)

    Cromer, Alan

    1995-08-01

    Most people believe that science arose as a natural end-product of our innate intelligence and curiosity, as an inevitable stage in human intellectual development. But physicist and educator Alan Cromer disputes this belief. Cromer argues that science is not the natural unfolding of human potential, but the invention of a particular culture, Greece, in a particular historical period. Indeed, far from being natural, scientific thinking goes so far against the grain of conventional human thought that if it hadn't been discovered in Greece, it might not have been discovered at all.In Uncommon Sense , Alan Cromer develops the argument that science represents a radically new and different way of thinking. Using Piaget's stages of intellectual development, he shows that conventional thinking remains mired in subjective, "egocentric" ways of looking at the world--most people even today still believe in astrology, ESP, UFOs, ghosts and other paranormal phenomena--a mode of thought that science has outgrown. He provides a fascinating explanation of why science began in Greece, contrasting the Greek practice of debate to the Judaic reliance on prophets for acquiring knowledge. Other factors, such as a maritime economy and wandering scholars (both of which prevented parochialism) and an essentially literary religion not dominated by priests, also promoted in Greece an objective, analytical way of thinking not found elsewhere in the ancient world. He examines India and China and explains why science could not develop in either country. In China, for instance, astronomy served only the state, and the private study of astronomy was forbidden. Cromer also provides a perceptive account of science in Renaissance Europe and of figures such as Copernicus, Galileo, and Newton. Along the way, Cromer touches on many intriguing topics, arguing, for instance, that much of science is essential complete; there are no new elements yet to be discovered. He debunks the vaunted SETI (Search for Extraterrestrial Intelligence) project, which costs taxpayers millions each year, showing that physical limits--such as the melting point of metal--put an absolute limit on the speed of space travel, making trips to even the nearest star all but impossible. Finally, Cromer discusses the deplorable state of science education in America and suggests several provocative innovations to improve high school education, including a radical proposal to give all students an intensive eighth and ninth year program, eliminating the last two years of high school.Uncommon Sense is an illuminating look at science, filled with provocative observations. Whether challenging Thomas Kuhn's theory of scientific revolutions, or extolling the virtues of Euclid's Elements , Alan Cromer is always insightful, outspoken, and refreshingly original.

  3. Extraordinary electronic properties in uncommon structure types

    NASA Astrophysics Data System (ADS)

    Ali, Mazhar Nawaz

    In this thesis I present the results of explorations into several uncommon structure types. In Chapter 1 I go through the underlying idea of how we search for new compounds with exotic properties in solid state chemistry. The ideas of exploring uncommon structure types, building up from the simple to the complex, using chemical intuition and thinking by analogy are discussed. Also, the history and basic concepts of superconductivity, Dirac semimetals, and magnetoresistance are briefly reviewed. In chapter 2, the 1s-InTaS2 structural family is introduced along with the discovery of a new member of the family, Ag0:79VS2; the synthesis, structure, and physical properties of two different polymorphs of the material are detailed. Also in this chapter, we report the observation of superconductivity in another 1s structure, PbTaSe2. This material is especially interesting due to it being very heavy (resulting in very strong spin orbit coulping (SOC)), layered, and noncentrosymmetric. Electronic structure calculations reveal the presence of a bulk 3D Dirac cone (very similar to graphene) that is gapped by SOC originating from the hexagonal Pb layer. In Chapter 3 we show the re-investigation of the crystal structure of the 3D Dirac semimetal, Cd3As2. It is found to be centrosymmetric, rather than noncentrosymmetric, and as such all bands are spin degenerate and there is a 4-fold degenerate bulk Dirac point at the Fermi level, making Cd3As2 a 3D electronic analog to graphene. Also, for the first time, scanning tunneling microscopy experiments identify a 2x2 surface reconstruction in what we identify as the (112) cleavage plane of single crystals; needle crystals grow with a [110] long axis direction. Lastly, in chapter 4 we report the discovery of "titanic" (sadly dubbed ⪉rge, nonsaturating" by Nature editors and given the acronym XMR) magnetoresistance (MR) in the non-magnetic, noncentrosymmetric, layered transition metal dichalcogenide WTe2; over 13 million% at 0.53 K in a magnetic field of 60 Tesla (the largest positive magnetoresistance ever reported). Unlike what is seen in other known materials, there is no saturation of the magnetoresistance value even at very high applied fields. In semimetals, very high MR may attributed to a balanced hole-electron "resonance" condition; as described here, WTe2 appears to be the first known material where this resonance is nearly perfect.

  4. Uncommon Candida Species Fungemia among Cancer Patients, Houston, Texas, USA

    PubMed Central

    Jung, Dong Sik; Farmakiotis, Dimitrios; Jiang, Ying; Tarrand, Jeffrey J.

    2015-01-01

    Many uncommon Candida species that cause bloodstream infections (BSIs) are not well-characterized. We investigated the epidemiology, antifungal use, susceptibility patterns, and factors associated with all-cause death among cancer patients in whom uncommon Candida spp. BSIs were diagnosed at a cancer treatment center during January 1998September 2013. Of 1,395 Candida bloodstream isolates, 79 from 68 patients were uncommon Candida spp. The incidence density of uncommon Candida spp. BSIs and their proportion to all candidemia episodes substantively increased during the study period, and the rise was associated with increasing use of echinocandin antifungal drugs. Thirty-seven patients had breakthrough infections during therapy or prophylaxis with various systemic antifungal drugs for >7 consecutive days; 21 were receiving an echinocandin. C. kefyr (82%), and C. lusitaniae (21%) isolates frequently showed caspofungin MICs above the epidemiologic cutoff values. These findings support the need for institutional surveillance for uncommon Candida spp. among cancer patients. PMID:26488845

  5. Unilateral nevoid acanthosis nigricans: Uncommon variant of a common disease

    PubMed Central

    Das, Anupam; Bhattacharya, Sabari; Kumar, Piyush; Gayen, Tirthankar; Roy, Kunal; Das, Nilay K.; Gharami, Ramesh C.

    2014-01-01

    Acanthosis nigricans (AN) is a fairly common dermatosis characterized by hyperpigmented velvety plaques, having a predilection for the intertriginous areas. We herein present a case of unilateral nevoid acanthosis nigricans over the left lateral chest, in an adult male. The rarity of documentation of this entity in the world literature prompted us to report the case. PMID:25506563

  6. Pyramid heart: uncommon sequel of a common disease.

    PubMed

    Patil, Nikhil Prakash; Katti, Karuna; Yadav, Niraj; Satsangi, Deepak Kumar

    2015-01-01

    A 40-year-old woman presented 19 years after ring-annuloplastyfor rheumatic mitral regurgitation. Long-standing rheumatic heartdisease resulted in an unusual finding on her chest radiograph. PMID:22964650

  7. Kimuras disease: An uncommon cause of lymphadenopathy

    PubMed Central

    Kumar, Veerendra; Salini; Haridas, Savida

    2010-01-01

    Lymph node enlargement of neck and axilla is one of the common presenting complaints in pediatrics. We are presenting here a very rare cause of axillary lymphadenopathy detected in a toddler. PMID:21206715

  8. Haplotype Kernel Association Test as a Powerful Method to Identify Chromosomal Regions Harboring Uncommon Causal Variants

    PubMed Central

    Lin, Wan-Yu; Yi, Nengjun; Lou, Xiang-Yang; Zhi, Degui; Zhang, Kui; Gao, Guimin; Tiwari, Hemant K.; Liu, Nianjun

    2014-01-01

    For most complex diseases, the fraction of heritability that can be explained by the variants discovered from genome-wide association studies is minor. Although the so-called rare variants (minor allele frequency [MAF] < 1%) have attracted increasing attention, they are unlikely to account for much of the missing heritability because very few people may carry these rare variants. The genetic variants that are likely to fill in the missing heritability include uncommon causal variants (MAF < 5%), which are generally untyped in association studies using tagging single-nucleotide polymorphisms (SNPs) or commercial SNP arrays. Developing powerful statistical methods can help to identify chromosomal regions harboring uncommon causal variants, while bypassing the genome-wide or exome-wide next-generation sequencing. In this work, we propose a haplotype kernel association test (HKAT) that is equivalent to testing the variance component of random effects for distinct haplotypes. With an appropriate weighting scheme given to haplotypes, we can further enhance the ability of HKAT to detect uncommon causal variants. With scenarios simulated according to the population genetics theory, HKAT is shown to be a powerful method for detecting chromosomal regions harboring uncommon causal variants. PMID:23740760

  9. Imaging of neurosarcoidosis: common, uncommon, and rare.

    PubMed

    Bathla, G; Singh, A K; Policeni, B; Agarwal, A; Case, B

    2016-01-01

    Sarcoidosis is an idiopathic inflammatory disease that may affect any organ system and have protean manifestations. Neurosarcoidosis refers to involvement of the central nervous system and may occur in patients with known sarcoidosis, or be the initial manifestation of the disease. In the latter, it can be a source of considerable confusion, given the non-specific imaging appearance. The aim of this review is to describe the imaging spectrum of neurosarcoidosis, including follow-up imaging and superimposed infections, which may occur secondary to immunosuppression. An increased awareness of this great mimicker could potentially expedite diagnosis and reduce morbidity. PMID:26506463

  10. Uncommon Caecum Diverticulitis Mimicking Acute Appendicitis

    PubMed Central

    Yilmaz, Özkan; Kiziltan, Remzi; Bayrak, Vedat; Çelik, Sebahattin; Çalli, Iskan

    2016-01-01

    Diverticulum of the cecum is a rarely seen reason of acute abdomen and it is difficult to be distinguished from appendicitis. The diagnosis is generally made during operation. We have presented this case in order to remember that it is a disease which should be kept in mind in cases of right lower quadrant pain. PMID:27006852

  11. Uncommon Caecum Diverticulitis Mimicking Acute Appendicitis.

    PubMed

    Yilmaz, Özkan; Kiziltan, Remzi; Bayrak, Vedat; Çelik, Sebahattin; Çalli, Iskan

    2016-01-01

    Diverticulum of the cecum is a rarely seen reason of acute abdomen and it is difficult to be distinguished from appendicitis. The diagnosis is generally made during operation. We have presented this case in order to remember that it is a disease which should be kept in mind in cases of right lower quadrant pain. PMID:27006852

  12. Popliteal lymph node dissection for metastatic squamous cell carcinoma: a case report of an uncommon procedure for an uncommon presentation.

    PubMed

    Morcos, Basem B; Hashem, Sameh; Al-Ahmad, Firas

    2011-01-01

    Lymph node metastasis from cutaneous squamous cell carcinoma is uncommon. The popliteal fossa is rarely involved with metastasis. Popliteal lymph node dissection is uncommonly performed and not frequently discussed in the literature. We present a case of squamous cell carcinoma of the heel with popliteal and inguinal metastasis. This is followed by a description of the relevant anatomy of the popliteal fossa and the technique of popliteal lymphadenectomy. PMID:21999203

  13. The Uncommon Localization of Herpes Zoster

    PubMed Central

    Cukic, Vesna

    2016-01-01

    Introduction: Herpes zoster is an acute, cutaneous viral infection caused by the reactivation of varicella-zoster virus (VZV) that is the cause of varicella. It is an acute neurological disease which can often lead to serious postherpetic neuralgia (PHN). Different nerves can be included with the skin rash in the area of its enervation especially cranial nerves (CV) and intercostal nerves. Case report: In this report we present a patient with herpes zoster which involved ulnar nerve with skin rash in the region of ulnar innervations in women with no disease previously diagnosed. The failure of her immune system may be explained by great emotional stress and overwork she had been exposed to with neglecting proper nutrition in that period. Conclusion: Herpes zoster may involve any nerve with characteristic skin rash in the area of its innervations, and failure in immune system which leads reactivation of VZV may be caused by other factors besides the underlying illness. PMID:26980938

  14. Solitary Angiokeratoma: Report of Two Uncommon Cases

    PubMed Central

    Chowdappa, Vijaya; Narasimha, Aparna; Masamatti, Smitha S.

    2015-01-01

    Angiokeratomas are rare benign vascular skin lesions arising in isolation or in groups of multiple lesions, as solitary cutaneous forms or generalized systemic forms. They are ectasias of dermal capillaries with an acanthotic and hyperkeratotic epidermis. They can occur in both healthy individuals and in those with underlying systemic disease due to inherited enzyme deficiency or other acquired predisposing factors. The identification and reporting of these lesions is important as patients with these lesions should be evaluated to rule out underlying pathogenic conditions. We report two rare cases of isolated solitary cutaneous angiokeratoma occurring in two patients. PMID:26155544

  15. [Newborn with lung mass of uncommon etiology].

    PubMed

    Pellegrino Cid, Christian; Maglio, Silvana; Gentile, Luis Fernando

    2012-01-01

    Thoracic masses in neonates usually respond to congenital anomalies of the respiratory system. They comprise a large number of diseases that can compromise the development of larynx, trachea, bronchi, pulmonary parenchyma and diaphragm or chest wall. Diagnosis is carried out during prenatal period by ultrasound in most cases. In others, respiratory distress is diagnosed during post-birth examination or later as a radiological finding. We present the case of a full term newborn with prenatal diagnosis of cystic "lung mass". Physical examination was unremarkable except for decreased breath sounds on the right lung. Different image studies were carried out to characterize the lesion. The patient underwent surgery and chemotherapy at fifth month of life. Pleuropulmonary blastoma diagnosis was confirmed by pathological study of the surgical specimen. This is a rare intrathoracic malignant tumor, appearing almost exclusively in children less than 7-years-old. PMID:22760761

  16. Tumefactive multiple sclerosis: an uncommon diagnostic challenge

    PubMed Central

    Kaeser, Martha A.; Scali, Frank; Lanzisera, Frank P.; Bub, Glenn A.; Kettner, Norman W.

    2011-01-01

    Objective This case report describes a rare presentation of multiple sclerosis (MS) that was initially diagnosed as a peripheral nerve lesion in the emergency department. Clinical Features A 30-year-old woman presented to a chiropractic teaching clinic with a complaint of a sudden right foot drop. Magnetic resonance imaging of the brain revealed a large mass in the left parietal lobe with additional white matter lesions. The mass and smaller lesions were consistent with a rare presentation of demyelinating disease, tumefactive MS. Intervention and Outcome The patient was referred to a neurologist for further evaluation and treatment. Her short-term clinical course was punctuated by recurrent myospasms and neurologic deficits. Conclusion Tumefactive MS may mimic the clinical and magnetic resonance imaging characteristics of glioma or a cerebral abscess. The clinical presentation, pathophysiology, differential diagnosis, role of diagnostic imaging, and treatment options of MS are described. This case report illustrates that the timely diagnosis and optimal treatment of MS require recognition of its varied, sometimes atypical, and often nonspecific clinical and imaging manifestations. PMID:22027206

  17. Uncommon opportunistic fungal infections of oral cavity: A review.

    PubMed

    Deepa, Ag; Nair, Bindu J; Sivakumar, Tt; Joseph, Anna P

    2014-05-01

    The majority of opportunistic oral mucosal fungal infections are due to Candida albicans and Aspergillus fumigatus species. Mucor and Cryptococcus also have a major role in causing oral infections, whereas Geotrichum, Fusarium, Rhodotorula, Saccharomyces and Penicillium marneffei are uncommon pathogens in the oral cavity. The broad spectrum of clinical presentation includes pseudo-membranes, abscesses, ulcers, pustules and extensive tissue necrosis involving bone. This review discusses various uncommon opportunistic fungal infections affecting the oral cavity including their morphology, clinical features and diagnostic methods. PMID:25328305

  18. Uncommon opportunistic fungal infections of oral cavity: A review

    PubMed Central

    Deepa, AG; Nair, Bindu J; Sivakumar, TT; Joseph, Anna P

    2014-01-01

    The majority of opportunistic oral mucosal fungal infections are due to Candida albicans and Aspergillus fumigatus species. Mucor and Cryptococcus also have a major role in causing oral infections, whereas Geotrichum, Fusarium, Rhodotorula, Saccharomyces and Penicillium marneffei are uncommon pathogens in the oral cavity. The broad spectrum of clinical presentation includes pseudo-membranes, abscesses, ulcers, pustules and extensive tissue necrosis involving bone. This review discusses various uncommon opportunistic fungal infections affecting the oral cavity including their morphology, clinical features and diagnostic methods. PMID:25328305

  19. Advocacy: Emphasizing the Uncommon about the Common Core State Standards

    ERIC Educational Resources Information Center

    Kaplan, Sandra N.

    2014-01-01

    The author describes key issues and uncommon concerns about the Common Core State Standards that fit within two categories: philosophical and pedagogical. Philosophically, Common Core State K-12 Standards should not be expected to be mastered at a specific grade level but based on developmental readiness. Pedagogically, Common Core State Standards

  20. Fulminant infection by uncommon organisms in animal bite wounds.

    PubMed Central

    Dutta, J. K.

    1998-01-01

    In 1995 and 1996, 215 patients exposed to different species of animals were treated at the Amarnath Polyclinic, Balasore, in India. Among them were two children infected by uncommon organisms, i.e., Capnocytophaga canimorsus and Pasteurella multocida; the patients recovered with appropriate antibiotic therapy. PMID:10211359

  1. Catalog of Uncommon Facilities in Western Colleges and Universities.

    ERIC Educational Resources Information Center

    Viehland, Dennis, Comp.

    A list of rare, and often unique, facilities in the western part of the United States is presented that is designed to serve as a resource for researchers. The list of facilities is a guide to what uncommon equipment, centers or institutes, and collections are available at western higher education facilities and what provisions exist for sharing

  2. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... each firefighter compensated under part 550, subpart M, of this chapter. The uncommon tour of duty shall correspond directly to the firefighter's regular tour of duty, as defined in 550.1302 of this chapter, so that each firefighter accrues and uses leave on the basis of that tour....

  3. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... each firefighter compensated under part 550, subpart M, of this chapter. The uncommon tour of duty shall correspond directly to the firefighter's regular tour of duty, as defined in 550.1302 of this chapter, so that each firefighter accrues and uses leave on the basis of that tour....

  4. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... each firefighter compensated under part 550, subpart M, of this chapter. The uncommon tour of duty shall correspond directly to the firefighter's regular tour of duty, as defined in 550.1302 of this chapter, so that each firefighter accrues and uses leave on the basis of that tour....

  5. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... each firefighter compensated under part 550, subpart M, of this chapter. The uncommon tour of duty shall correspond directly to the firefighter's regular tour of duty, as defined in 550.1302 of this chapter, so that each firefighter accrues and uses leave on the basis of that tour....

  6. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... each firefighter compensated under part 550, subpart M, of this chapter. The uncommon tour of duty shall correspond directly to the firefighter's regular tour of duty, as defined in 550.1302 of this chapter, so that each firefighter accrues and uses leave on the basis of that tour....

  7. Clinical and Radiologic Review of Uncommon Cause of Profound Iron Deficiency Anemia: Median Arcuate Ligament Syndrome

    PubMed Central

    Asil, K?yasettin; Aksoy, Yakup Ersel; Tatl? Ayhan, Lain

    2014-01-01

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case. PMID:25053902

  8. Primary paraesophageal Ewings sarcoma: an uncommon case report and literature review

    PubMed Central

    Tarazona, Noelia; Navarro, Lara; Cejalvo, Juan Miguel; Gambardella, Valentina; Prez-Fidalgo, J Alejandro; Sempere, Alejo; Navarro, Samuel; Cervantes, Andrs

    2015-01-01

    Ewings sarcoma is a rare and highly aggressive cancer most frequently arising in people under 20 years of age. We report an uncommon case of primary paraesophageal Ewings sarcoma in a 25-year-old male harboring the infrequent EWSR1/ERG fusion transcript with multiple splice variants coexisting in the same tumor. The patient was totally refractory to chemotherapy and died 17 months after diagnosis. We underscore the need for better understanding of the molecular pathogenesis of the disease and improved systemic therapy options. PMID:25999740

  9. Erythema nodosum leprosum mimicking Sweet's syndrome: an uncommon presentation.

    PubMed

    Mahajan, Vikram K; Abhinav, C; Mehta, Karaninder S; Chauhan, Pushpinder S

    2014-12-01

    Erythema nodosum leprosum (ENL) lesions may uncommonly develop ulceration, necrosis, pustulation or bullae. This 60 year-old female was hospitalised with previously undiagnosed multibacillary (BL) leprosy and Sweet's syndrome-like ENL, a presentation that is rarely reported. In addition to skin lesions simulating Sweet's syndrome, she had anaemia, elevated ESR, and a peripheral leucocytosis with neutrophilia, the laboratory features of Sweet's syndrome. The final diagnosis was made from chronic iridocyclitis, presence of lepra bacilli in slit-skin smears, and histology. The pathogenesis of Sweet's-like ENL remains conjectural. In Sweet's syndrome a complex interplay of various cytokines leading to an abundance of pro- inflammatory cytokines in the target tissues has been postulated to initiate an abnormal tissue response to certain antigens; such findings may eventually explain these uncommon lepra reactions as well. PMID:25675656

  10. Tuberculous Dactylitis: An Uncommon Presentation of a Common Infection

    PubMed Central

    Rao, G. Nayantara; Gali, Jayasri Helen; Rao, S. Narasimha

    2016-01-01

    Tuberculous dactylitis is an unusual form of osteoarticular tuberculosis involving the short tubular bones of hands and feet, which is uncommon beyond six years of age. We report the case of a fifteen-year-old adolescent boy who was diagnosed with tuberculous dactylitis, involving contralateral hand and foot. His diagnosis was delayed due to lack of suspicion of this rare entity. The report also examines the diagnostic difficulties faced by clinicians in arriving at an appropriate diagnosis. PMID:26885427

  11. Spindle cell hemangioma: Unusual presentation of an uncommon tumor

    PubMed Central

    Gbolahan, Olalere Omoyosola; Fasina, Oluyemi; Adisa, Akinyele Olumuyiwa; Fasola, Olubayo A

    2015-01-01

    Spindle cell hemangioma (SCH) is an uncommon tumor that usually presents as subcutaneous or deep dermal nodule affecting the extremities and is typically <2 cm in size. A few cases have been reported in the head and neck region. To the best of the authors’ knowledge, there are no previous reports of SCH occurring in the orbit in the English literature. We, therefore, report the case of a large SCH involving the right orbit of a healthy 9-year-old Nigerian girl.

  12. [Peroneal nerve palsy in children: Uncommon diagnosis of a proximal tibiofibular synovial cyst].

    PubMed

    Robin, F; Kuchenbuch, M; Sauleau, P; Marleix, S; Lucas, G; Fraisse, B; Violas, P

    2016-01-01

    Compression of the common peroneal nerve by synovial cysts of the tibiofibular joint is a rare disease. Two macroscopic forms may be encountered: extraneural cysts and intraneural cysts. In a review of the literature, we found only three pediatric cases of common peroneal nerve palsy due to extraneural cysts and about 60cases reported in adults. Taking advantage of the clinical history of two children operated in our department for this disease, we describe this uncommon entity, which must be diagnosed and treated rapidly. Even in the presence of severe clinical and electrophysiological symptoms, a full clinical recovery is possible, as observed in these two children. However, follow-up is needed because recurrence is possible. PMID:26563724

  13. Cryptococcal laryngitis: An uncommon presentation of a common pathogen.

    PubMed

    Atiya, Y; Masege, S D

    2015-10-01

    Cryptococcus neoformans is an ubiquitous encapsulated yeast found worldwide, especially in areas with pigeons. The fungus thrives in pigeon droppings and is responsible for primary pulmonary infection, but may disseminate and cause infection of the central nervous system, skin and bone. Most cases are reported in immunocompromised hosts, most commonly those infected with HIV. However, infection has been reported in immunocompetent hosts. Primary infection of the larynx is uncommon, and to date only 12 cases have been reported. We present the first South African report of a young woman with HIV who presented with hoarseness of uncertain aetiology, which was later confirmed to be cryptococcal laryngitis. PMID:26636155

  14. Solar Elastosis in Its Papular Form: Uncommon, Mistakable

    PubMed Central

    Heng, Jun Khee; Aw, Derrick Chen Wee; Tan, Kong Bing

    2014-01-01

    Solar elastosis is a degenerative condition of elastic tissue in the dermis due to prolonged sun exposure. There are a variety of clinical manifestations of solar elastosis. In its most common form, solar elastosis manifests as yellow, thickened, coarsely wrinkled skin. We report two uncommon cases of severe solar elastosis with a papular morphology. Its presentation can closely mimic a host of cutaneous disorders and thus, although it is helpful to be cognizant of this entity, it is still crucial to biopsy these lesions to avoid missing a more sinister condition. PMID:24926253

  15. European and German food legislation facing uncommon foodstuffs.

    PubMed

    Grabowski, Nils Th; Klein, Günter; López, Antonio Martínez

    2013-01-01

    In Europe, uncommon foodstuff (UFS, i.e., traditional foods from specific European regions and uncommon ethnic foods from non-EU countries) have been contributing to a diversification of the food supply. E-commerce and specialized retail shops are the main sources for UFS. This article discusses the legal bases for UFS introduction and evaluation. By means of 35 representative UFS, this article analyses the possibilities of trade and veterinary inspection of these products in Germany, comparing European Union and national food legislation with the many idiosyncrasies the UFS presents. Conservatory legislation bans the trade with endangered species (primates, cetaceans, songbirds), but for many other species, this is a complex matter that may ban only subpopulations from trade. Although introduction of legal UFS is regulated (yet complicated), the lack of appropriate definitions, intra-European trade harmonization, and of sufficient scientific knowledge hampers a satisfactory evaluation of many UFSs, for example, reptile meat or terrestrial insects. In these cases, official inspection would only be very basic. PMID:23768143

  16. Giant Cutaneous Horn Overlying A Verruca at an Uncommon Site: Medical Marvel vs Superstitious Dilemma

    PubMed Central

    Sanjeeva, Karthik Kathladka; Ali, Puttur Sainuddin Mohammed Ameer; Rao, Srikar; Rai, Arvind Shivram

    2015-01-01

    Cutaneous horn has been a matter of discussion to mankind since time immemorial and a subject of fascination for the layman. There have been instances where certain groups saw it with angst and disgust, with a person having a large cutaneous horn on an exposed area getting a dismal look. We present a case of a 64-year-old man with a giant cutaneous horn over his left gluteal region. Cutaneous horns more commonly present in the sun-exposed areas. In our case it has presented in an uncommon site. The patient had delayed and denied medical treatment due to his superstitious beliefs, after having sought advice from faith healers leading to progression of the disease. This case has been presented for its giant size (rare variety), its location being over the gluteal region (photo-protected site) and its benign histopathology suggestive of wart in spite of the giant size. PMID:26023596

  17. Giant Cutaneous Horn Overlying A Verruca at an Uncommon Site: Medical Marvel vs Superstitious Dilemma.

    PubMed

    Sanjeeva, Karthik Kathladka; Ali, Puttur Sainuddin Mohammed Ameer; Pinto, Malcolm; Rao, Srikar; Rai, Arvind Shivram

    2015-04-01

    Cutaneous horn has been a matter of discussion to mankind since time immemorial and a subject of fascination for the layman. There have been instances where certain groups saw it with angst and disgust, with a person having a large cutaneous horn on an exposed area getting a dismal look. We present a case of a 64-year-old man with a giant cutaneous horn over his left gluteal region. Cutaneous horns more commonly present in the sun-exposed areas. In our case it has presented in an uncommon site. The patient had delayed and denied medical treatment due to his superstitious beliefs, after having sought advice from faith healers leading to progression of the disease. This case has been presented for its giant size (rare variety), its location being over the gluteal region (photo-protected site) and its benign histopathology suggestive of wart in spite of the giant size. PMID:26023596

  18. Syphilis Infection: An Uncommon Etiology of Infectious Nonimmune Fetal Hydrops with Anemia.

    PubMed

    Fuchs, Florent; Michaux, Katell; Rousseau, Cline; Ovetchkine, Philippe; Audibert, Franois

    2016-01-01

    An increased prevalence of syphilis has been observed in many developed countries over the last decade. During pregnancy, syphilis can affect the fetus through development of nonspecific symptoms such as microcephaly, ascites, hepatosplenomegaly, dilated and echogenic bowel, placentomegaly, and, uncommonly, fetal hydrops. Congenital syphilis also leads to hematologic abnormalities such as anemia, thrombocytopenia, leukopenia, and leukocytosis. We present a case of nonimmune fetal hydrops with anemia related to syphilis infection. Diagnosis was confirmed by a maternal serological test and microbiological testing on amniotic fluid, umbilical cord, and placental tissues. The patient was treated with penicillin and the fetus received an intrauterine red blood cell transfusion, but fetal death occurred shortly after. Such a presentation is mostly related to parvovirus B19, and syphilis etiology is poorly mentioned because physicians have rarely seen early congenital syphilis in the past. However, given the increasing prevalence of this disease in the adult population, clinicians should remain alert to the various presentations of congenital syphilis. PMID:25138225

  19. Concurrent Occurrence of Uterovaginal and Rectal Prolapse: An Uncommon Presentation.

    PubMed

    Umeh, U A; Ugwu, E O; Obi, S N; Nnagbo, J E

    2015-01-01

    Concomitant uterovaginal and rectal prolapse is an uncommon occurrence. Where laparoscopic equipment and skills are lacking, sacrohysteropexy with synthetic mesh and rectopexy can be accomplished by laparotomy, especially in women who desire to retain their uterus for either biological or psychological reasons. A 40-year-old primipara with a history of concomitant mass protruding from both her vagina and anus following a spontaneous unsupervised delivery at home. Following pelvic examination, a diagnosis of uterovaginal and rectal prolapse was made. In view of her parity and desire to retain her reproductive function, she was offered abdominal sacrohysteropexy with synthetic mesh and rectopexy with satisfactory postoperative recovery. In resource-limited settings with concomitant uterine and rectal prolapse, open abdominal sacrohysteropexy with synthetic mesh and rectopexy is an effective and safe alternative to Manchester operation in the absence of laparoscopic equipment and skills. PMID:26500795

  20. Concurrent Occurrence of Uterovaginal and Rectal Prolapse: An Uncommon Presentation

    PubMed Central

    Umeh, UA; Ugwu, EO; Obi, SN; Nnagbo, JE

    2015-01-01

    Concomitant uterovaginal and rectal prolapse is an uncommon occurrence. Where laparoscopic equipment and skills are lacking, sacrohysteropexy with synthetic mesh and rectopexy can be accomplished by laparotomy, especially in women who desire to retain their uterus for either biological or psychological reasons. A 40-year-old primipara with a history of concomitant mass protruding from both her vagina and anus following a spontaneous unsupervised delivery at home. Following pelvic examination, a diagnosis of uterovaginal and rectal prolapse was made. In view of her parity and desire to retain her reproductive function, she was offered abdominal sacrohysteropexy with synthetic mesh and rectopexy with satisfactory postoperative recovery. In resource-limited settings with concomitant uterine and rectal prolapse, open abdominal sacrohysteropexy with synthetic mesh and rectopexy is an effective and safe alternative to Manchester operation in the absence of laparoscopic equipment and skills. PMID:26500795

  1. An Uncommon Case of Solitary Peripheral Osteoma in the Mandible

    PubMed Central

    Agrawal, Rohit; Agrawal, Shipra; Bhargava, Shitij; Motlani, Mahesh; Agrawal, Rahul

    2015-01-01

    Osteoma is a benign osteogenic lesion which is composed of well differentiated mature compact and/or cancellous bone that proliferates continuously. Its prevalence is 4%. Its pathogenesis is still controversial. Solitary peripheral osteoma of craniofacial region is a rare finding. We report a case of 30-year-old female having solitary peripheral osteoma present on the lingual cortex of the left posterior mandible which was initially asymptomatic but now is causing discomfort while chewing and not associated with Gardner's syndrome. We also laid emphasis on its clinical, differential diagnosis, radiological, surgical, and histopathological features. The aim of this paper is to present an uncommon case of solitary peripheral osteoma in the mandible along with analysis of literature for peripheral osteomas of jaws and to contribute to the knowledge concerning the pathogenesis, differential diagnosis, and management of these lesions. PMID:26788378

  2. Recognizing Uncommon Presentations of Psychogenic (Functional) Movement Disorders

    PubMed Central

    Baizabal-Carvallo, José Fidel; Fekete, Robert

    2015-01-01

    Background Psychogenic or functional movement disorders (PMDs) pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus. Methods In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness. Results Psychogenic parkinsonism (PP) is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age. Discussion Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders. PMID:25667816

  3. Delayed osseous metastasis from low-grade endometrial stromal sarcoma: Uncommon occurrence deserving recognition.

    PubMed

    Chow, Louis Tsun Cheung

    2015-10-01

    Despite excellent prognosis, low-grade endometrial stromal sarcoma (ESS) is notorious for late recurrence even in stage I disease. Bone metastases are distinctly rare and only six cases have so far been reported. Two patients presented with back pain due to spinal metastatic low-grade ESS after 15 and 9?years free of disease after resection of the stage 1 primary uterine tumor. Plain radiograph showed an ivory first lumbar vertebra in the first patient and an osteolytic lesion involving the second thoracic vertebra in the second. In both cases, magnetic resonance imaging showed vertebral tumor with intra-spinal extension and spinal cord compression; biopsy confirmed the diagnosis of metastatic low-grade ESS. The first patient received palliative radiotherapy and chemotherapy while the second underwent surgical decompression followed by adjuvant radiotherapy and chemotherapy. The neurologic symptoms in both patients returned 12?months afterwards and progressed relentlessly despite adjuvant chemotherapy and radiotherapy. The first patient developed multiple bone and lung metastasis, culminating in death 44?months after recurrence. While surviving at 24?months from recurrent disease, the second became paraplegic with double incontinence and was wheelchair bound. Delayed osseous metastatic low-grade ESS, although uncommon, deserves recognition given the predilection for spine as the site of involvement. In such a location, where complete surgical removal is notoriously difficult, if not impossible, the prognosis of spinal metastatic low-grade ESS appears grave with considerable morbidity and mortality. PMID:26171849

  4. An uncommon folliculosebaceous cystic hamartoma on the lower extremity

    PubMed Central

    Emsen, Ilteris Murat; Livaoglu, Ayten

    2007-01-01

    BACKGROUND: Folliculosebaceous cystic hamartomas (FSCH) are a recently recognized cutaneous hamartoma comprised of follicular, sebaceous and mesenchymal elements. Only nine cases have been previously reported. The authors present a case of FSCH on the lower extremity in addition to a literature review. OBJECTIVE: To further characterize the clinical, histological and immunohistological features of FSCH. METHODS: The clinical, histological and immunohistological features of FSCH were evaluated and the literature reviewed. RESULTS: This lesion uncommonly presents as exophytic papules or nodules on the leg, and most commonly presents on the central part of the face. Clinical differential diagnoses included nevus, neurofibroma and adnexal tumour. The diagnostic microscopic features of infundibular cystic structures with attached sebaceous glands and characteristic stroma were present in all lesions. Many of the stromal spindle cells were CD34-positive. CONCLUSION: The FSCH is a recently recognized hamartoma comprised of follicular, sebaceous and mesenchymal elements. Although reported only rarely, its incidence is likely much higher. In the present patient, the FSCH was located in femoral region, which is very rare. PMID:19554184

  5. Microsatellite instability is uncommon in uterine serous carcinoma.

    PubMed Central

    Tashiro, H.; Lax, S. F.; Gaudin, P. B.; Isacson, C.; Cho, K. R.; Hedrick, L.

    1997-01-01

    Thirty-four uterine serous carcinomas, a type of endometrial carcinoma with aggressive behavior and a high frequency (90%) of p53 gene mutations, were analyzed for microsatellite instability (MI). Genomic DNA isolated from paired normal and tumor tissue was analyzed at eight microsatellite loci (D2S119, D2S123, D2S147, D10S197, D13S175, D18S58, D18S69, and ATn) located on four different chromosomes. All 34 tumors failed to meet the criteria for MI, defined as an alteration in the size of at least two of the microsatellite loci in tumor DNA when compared with normal DNA. Only three tumors demonstrated a shift in the size of a single microsatellite locus. Previously we reported MI in 20% of uterine endometrioid carcinomas, the most common type of endometrial carcinoma. The observed difference in the MI frequency between endometrioid and serous carcinoma is statistically significant (P = 0.003). Our data demonstrate that MI is uncommon in uterine serous carcinoma and support that different pathogenetic mechanisms are involved in the development of the two most common types of endometrial carcinoma. Images Figure 1 Figure 2 PMID:9006324

  6. "Uncommon Contents of Inguinal Hernial Sac": A Surgical Dilemma.

    PubMed

    Goyal, Sunder; Shrivastva, Madhuri; Verma, R K; Goyal, Snigdha

    2015-12-01

    Inguinal hernia repair is the most common surgery done by both young and experienced surgeons. The hernia in the inguinal region usually contains the omentum and small intestine but rarely can contain unusual contents like the appendix, ovary with fallopian tubes, urinary bladder, sigmoid colon, and cecum. The aim of this study is to present our experience of uncommon contents in the inguinal hernia sac and their surgical management. A retrospective study of 330 patients who underwent inguinal hernia repair was carried out over a period of 3 years from January 2008 to December 2011. Only five patients presented with unusual contents in the inguinal hernia sac; an incidence of 1.5 %. Two of them had vermiform appendix, with acute appendicitis (Amyand's hernia) noted in one of them. The patient with acute appendicitis underwent appendicectomy with herniorrhaphy, while in the other, hernioplasty with mesh was done as the patient was with normal appendix. In one case, the urinary bladder was the content of the inguinal hernia sac and there were two cases with the ovary and fallopian tubes as its content. In all these cases, contents were replaced back and hernia repair was done. Unusual contents of the hernial sac may create a surgical dilemma (whether to save or sacrifice the organ) during hernia repair even to an experienced surgeon. PMID:26730015

  7. The uncommon case of Jahi McMath.

    PubMed

    Luce, John M

    2015-04-01

    A 13-year-old patient named Jahi McMath was determined to be dead by neurologic criteria following cardiopulmonary arrest and resuscitation at a hospital in Oakland, California. Her family did not agree that she was dead and refused to allow her ventilator to be removed. The family's attorney stated in the media that families, rather than physicians, should decide whether patients are dead and argued in the courts that the families' constitutional rights of religion and privacy would be violated otherwise. Ultimately, a judge agreed that the patient was dead in keeping with California law, but the constitutional issue was undecided. The patient was then transferred to a hospital in New Jersey, a state whose laws allow families to require on religious grounds that death be determined by cardiopulmonary criteria. Although cases such as this are uncommon, they demonstrate public confusion about the concept of neurologic death and the rejection of this concept by some families. The confusion may be caused in part by a lack of uniformity in state laws regarding the legal basis of death, as reflected in the differences between New Jersey and California statutes. Families who reject the determination of death by neurologic criteria on religious grounds should be given reasonable accommodation in all states, but society should not pay for costly treatments for patients who meet these criteria unless the state requires it, as only New Jersey does. Laws that give physicians the right to determine death by neurologic criteria in other states probably can survive a constitutional challenge. Physicians and hospitals faced with similar cases in the future should follow state laws and work through the courts if necessary. PMID:25846530

  8. Lymphoepithelioma-like hepatocellular carcinoma: an uncommon variant of hepatocellular carcinoma with favorable outcome.

    PubMed

    Chan, Anthony W H; Tong, Joanna H M; Pan, Yi; Chan, Stephen L; Wong, Grace L H; Wong, Vincent W S; Lai, Paul B S; To, Ka-Fai

    2015-03-01

    Lymphoepithelioma-like hepatocellular carcinoma (LEL-HCC) is an uncommon variant of HCC with only 22 cases reported in the literature. To better determine the incidence, clinicopathologic features, prognostic significance, and molecular pathogenesis of LEL-HCC, we presented the largest series of LEL-HCC from a 9-year retrospective cohort of patients with HCC undergoing surgical resection. LEL-HCC was identified in 20 patients (4.9%). Compared with patients having HCC without significant tumor-infiltrating lymphocyte (TIL), patients with LEL-HCC had a relatively lower frequency of male sex (P=0.022), tended to present at early-stage disease (80.0% vs. 56.3% as AJCC stage I, P=0.037; 100% vs. 77.3% as BCLC stage 0/A, P=0.010), and all harbored a solitary tumor only (P=0.006). There was no significant difference in the age at presentation, underlying chronic liver disease, cirrhotic background, serum ?-fetoprotein level, tumor size, histologic grade, and frequencies of vascular invasion. Most of the TILs in LEL-HCC were cytotoxic T lymphocytes. None of the LEL-HCCs was associated with Epstein-Barr virus. LEL-HCC was associated with better overall (5-y survival: 94.1% vs. 63.9%; P=0.007) and progression-free (5-y survival: 87.8% vs. 46.6%; P=0.002) survivals compared with HCC without significant TIL. The multivariate analysis revealed that LEL-HCC was an independent prognostic factor for overall and progression-free survivals. The adjusted hazard ratio of cancer death and tumor progression for LEL-HCC was 0.12 (P=0.037) and 0.14 (P=0.002), respectively. LEL-HCC did not differ in frequencies of microsatellite instability, BRAF mutation, and DNA hypermethylation. In brief, LEL-HCC is a distinct uncommon variant of HCC characterized by dense cytotoxic T-cell infiltration and favorable prognosis. PMID:25675010

  9. Acromegaly presenting as hirsuitism: Uncommon sinister aetiology of a common clinical sign

    PubMed Central

    Jain, Rajesh; Dutta, Deep; Shivaprasad, KS; Maisnam, Indira; Ghosh, Sujoy; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-01-01

    Hirsuitism though not uncommon (24%), is not considered to be a prominent feature of acromegaly because of its lack of specificity and occurrence. Hirsuitism is very common in women of reproductive age (5-7%) and has been classically associated with polycystic ovarian syndrome (PCOS). Twenty-eight year lady with 3 year duration of hirsuitism (Modified Ferriman Gallwey score-24/36), features of insulin resistance (acanthosis), subtle features of acromegaloidism (woody nose and bulbous lips) was diagnosed to have acromegaly in view of elevated IGF-1 (1344 ng/ml; normal: 116-358 ng/ml), basal (45.1 ng/ml) and post glucose growth hormone (39.94 ng/ml) and MRI brain showing pituitary macroadenoma. Very high serum androstenedione (>10 ng/ml; normal 0.5-3.5 ng/ml), elevated testosterone (0.91 ng/ml, normal <0.8) and normal dehydroepiandrosterone sulphate (DHEAS) (284 mcg/dl, normal 35-430 mcg/dl) along with polycystic ovaries on ultrasonography lead to diagnosis of associated PCOS. She was also diagnosed to have diabetes. This case presentation intends to highlight that hirsuitism may rarely be the only prominent feature of acromegaly. A lookout for subtle features of acromegaly in all patients with hirsuitism and going for biochemical evaluation (even at the risk of investigating many patients of insulin resistance and acromegloidism) may help us pick up more patients of acromegaly at an earlier stage thus help in reducing disease morbidity. PMID:23565405

  10. Bartonella spp.: throwing light on uncommon human infections.

    PubMed

    Kaiser, Patrick O; Riess, Tanja; O'Rourke, Fiona; Linke, Dirk; Kempf, Volkhard A J

    2011-01-01

    After 2 decades of Bartonella research, knowledge on transmission and pathology of these bacteria is still limited. Bartonella spp. have emerged to be important pathogens in human and veterinary medicine. For humans, B. henselae is considered to represent the most relevant zoonotic Bartonella species and is responsible for cat scratch disease, bacillary angiomatosis, and other disorders. Over the years, many Bartonella species have been isolated from humans, cats, dogs, and other mammals, and infections range from an asymptomatic state (e.g., animal-specific species) to even life-threatening diseases (e.g., Oroya fever). It is obvious that the analysis of pathogenicity mechanisms underlying Bartonella infections is needed to increase our understanding of how these pathogens adapt to their mammalian hosts resulting in acute or chronic diseases. PMID:20833105

  11. Neurocardiogenic syncope during a routine colonoscopy: an uncommon malignant presentation.

    PubMed

    Sharma, Gautam; Boopathy Senguttuvan, Nagendra; Juneja, Rajnish; Kumar Bahl, Vinay

    2012-01-01

    Neurocardiogenic syncope (NCS) is a common clinical entity. Most of these patients are managed medically by internists and general practitioners. Though NCS is frequently a benign disease, a malignant form of this disorder with episodes of prolonged cardioinhibition culminating in asystole is described. Here, we describe a 52-year-old woman who had such a life threatening malignant form of arrhythmia during a routine colonoscopy and review the literature of similar cases. PMID:22504245

  12. Hiccups, eructation, and other uncommon prodromal manifestations of herpes zoster.

    PubMed

    Berlin, Alexander L; Muhn, Channy Y; Billick, Robin C

    2003-12-01

    Although the most frequent presentation of herpes zoster involves sensory neurons, motor and autonomic symptomatology is also known to occur in this disease. An unusual symptom of hiccups is described here. Other infrequent manifestations of this common illness, including the Ramsay Hunt syndrome, herpes zoster ophthalmicus, urinary and fecal retention, sexual dysfunction, and zoster sine herpete, are reviewed. Greater awareness of unusual presentations of herpes zoster is necessary for proper diagnosis and timely management of complications that may otherwise lead to disability and serious long-term sequelae. PMID:14639397

  13. Chronic Cough and Eosinophilic Esophagitis: An Uncommon Association

    PubMed Central

    Orizio, Paolo; Cinquini, Massimo; Minetti, Stefano; Alberti, Daniele; Paolo, Camilla Di; Villanacci, Vincenzo; Torri, Fabio; Crispino, Paola; Facchetti, Susanna; Rizzini, Fabio Lodi; Bassotti, Gabrio; Tosoni, Cinzia

    2011-01-01

    An increasing number of children, usually with gastrointestinal symptoms, is diagnosed with eosinophilic esophagitis (EE), and a particular subset of these patients complains of airway manifestations. We present the case of a 2-year-old child with chronic dry cough in whom EE was found after a first diagnosis of gastroesophageal reflux disease (GERD) due to pathological 24-hour esophageal pH monitoring. Traditional allergologic tests were negative, while patch tests were diagnostic for cow's milk allergy. We discuss the intriguing relationship between GERD and EE and the use of patch test for the allergologic screening of patients. PMID:21960955

  14. Hemosuccus pancreaticus caused by rupture of a splenic artery pseudoaneurysm complicating chronic alcoholic pancreatitis: an uncommon cause of gastrointestinal bleeding.

    PubMed

    Hiltrop, Nick; Vanhauwaert, Anke; Palmers, Pieter-Jan Liesbeth Herman; Cool, Mike; Deboever, Guido; Lambrecht, Guy

    2015-12-01

    We present a case of a 52-year old female patient with intermittent gastrointestinal bleeding and iron deficiency anaemia. Repeated endoscopic investigation revealed no diagnosis, but contrast-enhanced computed tomography showed a splenic artery pseudo-aneurysm secondary to chronic alcoholic pancreatitis. A distal pancreatectomy and splenectomy was performed. Hemosuccus pancreaticus is an uncommon cause of gastrointestinal bleeding, most frequently associated with chronic pancreatitis. Erosion of a peripancreatic artery by a pseudocyst can cause a pseudoaneurysm and rupture occurs in up to 10% of the cases. Bleeding from a pseudocyst wall or rupture of an atherosclerotic or traumatic aneurysm is rare. Angiography, contrast-enhanced computed tomography and endoscopic findings can be diagnostic in the majority of cases. Angiographic embolization or surgery are both therapeutic options depending on underlying nonvascular pancreas related indications requiring surgery. We discuss diagnostic pitfalls and current therapeutic strategies in the management of this disease. PMID:26712055

  15. Uncommon and rarely reported adverse events of endoscopic retrograde cholangiopancreatography.

    PubMed

    Chavalitdhamrong, Disaya; Donepudi, Suman; Pu, Liping; Draganov, Peter V

    2014-01-01

    Endoscopic retrograde cholangiopancreatography (ERCP) has become a primary tool for the treatment of biliary and pancreatic ductal diseases. It is essential for the endoscopist carrying out the ERCP to have a thorough understanding of the potential adverse events. Typically, endoscopists are well familiar with common adverse events such as post-ERCP pancreatitis, cholangitis, post-sphincterotomy bleeding, post-sphincterotomy perforation, and sedation-related cardiopulmonary compromises. However, there are other less common adverse events that arecritical to promptly recognize in order to provide appropriate therapy and prevent disastrous outcomes. This review focuses on the presentation and management of the less common and rare adverse events of an ERCP from the perspective of the practicing endoscopist. PMID:24118211

  16. [Fabry disease].

    PubMed

    Boggio, Paula; Luna, Paula Carolina; Abad, Mara Eugenia; Larralde, Margarita

    2009-01-01

    Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients. PMID:19851669

  17. An uncommon cause of allergic fungal sinusitis: Rhizopus oryzae.

    PubMed

    Devars du Mayne, Marie; Gratacap, Maxime; Malinvaud, David; Grenouillet, Frederic; Bonfils, Pierre

    2015-01-01

    We report what we believe is the first case of allergic fungal rhinosinusitis (AFRS) caused by the fungus Rhizopus oryzae. Our patient was a 32-year-old woman who presented with unilateral nasal polyps and chronic nasal dysfunction. Computed tomography of the sinuses detected left-sided pansinusitis and bone erosion. T2-weighted magnetic resonance imaging demonstrated a signal void that suggested the presence of a fungal infection. The patient underwent unilateral ethmoidectomy. Histologic examination of the diseased tissue identified allergic mucin with 70% eosinophils and no fungal hyphae. Mycologic culture detected R oryzae. After a short period of improvement, the patient experienced a recurrence, which was confirmed by radiology. A second surgery was performed, and the same fungal hyphae were found in the mucus and on culture, which led us to suspect AFRS. Since no IgE test for R oryzae was available, we developed a specific immunologic assay that confirmed the presence of specific IgG, which identified a high degree of immunologic reaction against our homemade R oryzae antigens. With a long course of systemic antifungal treatment, the patient's symptoms resolved and no recurrence was noted at 5 years of follow-up. PMID:25606840

  18. Common Presentation with Uncommon Diagnosis: Multifocal Epithelioid Hemangioendothelioma

    PubMed Central

    Kundu, Susmita; Misra, Swapnendu; Biswas, Debabani; Mitra, Ritabrata; Naskar, Bidisha Ghosh

    2015-01-01

    A young female patient presenting with recurrent hemoptysis, neck swelling, and mediastinal mass mimicking lymphadenopathy was admitted to the Institute of Post Graduate Medical Education and Research and SSKM hospital, Kolkata, India. Clinical features, radiological studies, fibre optic bronchoscopy, and fine needle aspiration cytology from the neck swelling created a diagnostic dilemma until surgical resection and immunohistochemistry reports confirmed the diagnosis of multifocal epithelioid hemangioendothelioma, a rare vascular tumor with intermediate malignancy potential. Because it is a slow-progressing disease and due to the non-availability of standard chemotherapy, the patient, and her legal guardian, opted for palliative care only. She was asymptomatic for four years but again presented with hemoptysis, reappearance of the neck swelling on the same side, and a mediastinal mass compressing the superior vena cava and right pulmonary artery. This report describes the diagnostic problems and therapeutic challenges in the management of this rare tumor over a four-year follow-up period. The clinical course emphasizes the highly unpredictable nature of this tumor. PMID:26674363

  19. Renal abscesses in childhood: report of two uncommon cases

    PubMed Central

    Cancelinha, Candida; Santos, Lea; Ferreira, Carmen; Gomes, Clara

    2014-01-01

    Renal abscesses are rare conditions in children, but they must be remembered in differential diagnosis of fever and abdominal pain. The authors report two paediatric cases with unusual presentation. Case 1: a 15-year-old girl was admitted following a period of fever, vomiting and left hypochondrium pain which became more localised to the left lower ribs. Blood tests suggested bacterial infection, but urinalysis and culture were negative. Renal CT scan presented features of bilateral pyelonephritis and left renal abscesses, while ultrasound remained normal until the ninth day of disease. Case 2: a 2-year-old girl, with diagnosis of β-thalassemia minor, had intermittent diffuse abdominal pain with 2 weeks of evolution. Renal ultrasonography and CT scan showed a heterogeneous mass compatible with Willms tumour. Intraoperative diagnosis was compatible with renal abscess with isolation of Proteus mirabilis in the fluid. Both responded well to long-term antibiotics and to surgical drainage (in the second case). PMID:24671317

  20. Abdominopelvic actinomycosis in three different locations with invasion of the abdominal wall and ureteric obstruction: An uncommon presentation

    PubMed Central

    Galata, Christian L.; Vogelmann, Roger; Gaiser, Timo; Post, Stefan; Horisberger, Karoline

    2015-01-01

    Introduction Actinomycosis is a rare chronic infectious disease caused by Gram-positive anaerobic bacteria that normally colonize the bronchial system and gastrointestinal tract in humans. The most common diseases associated with actinomycosis are orocervicofacial, thoracic and abdominal infections involving Actinomyces israelii. Due to its rarity, its various clinical presentations and often-infiltrative characteristics in radiological imaging, it can easily be mistaken for other clinical conditions, including malignancy. Presentation of case We present an uncommon case of extended abdominopelvic actinomycosis with infiltrative lesions in multiple locations, including an abscess in the abdominal wall and ureteric obstruction, which underwent successful surgical and subsequent long-term antibiotic therapy. Discussion To our knowledge, such a combination of different sites of manifestation has not yet been reported for actinomycosis in the presence of an IUD. Possible differential diagnoses included diverticulitis with covered perforation, pelvic inflammatory disease, tuberculosis and inflammatory bowel disease. The possibility of a malignant process required radical resection. As in most cases of actinomycosis, diagnosis could not be established with certainty until postoperative pathology investigation. Conclusion A rare actinomyceal infection should be considered in patients with a non-specific pelvic mass and atypical abdominal presentations, especially if a previous history of IUD usage is known. PMID:26001364

  1. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

    PubMed Central

    Smith, Kara M.; Spindler, Meredith A.

    2015-01-01

    Background In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS) has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS) and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study. Methods A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi) DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies. Discussion Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study. PMID:25713746

  2. Epidemiology of bacteremia caused by uncommon non-fermentative gram-negative bacteria

    PubMed Central

    2013-01-01

    Background Prevalence of bacteremia caused by non-fermentative gram-negative bacteria (NFGNB) has been increasing over the past decade. Although many studies have already investigated epidemiology of NFGNB bacteremia, most focused only on common NFGNB including Pseudomonas aeruginosa (PA) and Acinetobacter baumannii (AB). Knowledge of uncommon NFGNB bacteremia is very limited. Our study aimed to investigate epidemiology and identify factors associated with uncommon NFGNB bacteremia. Methods This observational study was conducted at a university hospital in Thailand during July 1, 2007-Dec 31, 2008. All patients who had at least one blood culture positive for NFGNB and met the criteria for systemic inflammatory response syndrome within 24hours before/after obtaining the blood culture were enrolled. The NFGNB isolates that could not be satisfactorily identified by the standard biochemical assays were further characterized by molecular sequencing methods. To identify factors associated with uncommon NFGNB bacteremia, characteristics of patients in the uncommon NFGNB group were subsequently compared to patients in the common NFGNB group (AB and PA bacteremia). Results Our study detected 223 clinical isolates of NFGNB in 221 unique patients. The major causative pathogens were AB (32.7%), followed by PA (27.8%), Stenotrophomonas maltophilia (5.4%), Acinetobacter lwoffii (4.9%) and Burkholderia pseudomallei (2.7%). Infection-related mortality was 63.0% in the AB group, 40.3% in the PA group and 17.4% in the uncommon NFGNB group. Factors associated with uncommon NFGNB bacteremia (OR [95% CI]; p-value) were male sex (0.28 [0.14-0.53]; p?uncommon NFGNB group. Knowledge of factors associated with uncommon NFGNB bacteremia would help physicians to distinguish between low vs. high risk patients. PMID:23566113

  3. 1967-68 Selected Bibliography in Linguistics and the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Kocher, Margaret, Ed.

    This bibliography is a selected listing of approximately 775 books, monographs, journal articles, collections, bibliographies, and unpublished papers on linguistics and the uncommonly taught languages. It includes 119 documents entered by th e ERIC Clearinghouse for Linguistics in the ERIC system in 1967 as well as items which have appeared since

  4. Isodicentric Philadelphia chromosome: an uncommon chromosomal abnormality in the chronic phase of chronic myeloid leukemia (CML).

    PubMed

    Loo, Eric; Bansal, Pranshu; Cherukuri, Durga; Arana Yi, Cecilia

    2016-01-01

    An isodicentric Philadelphia chromosome is an uncommon finding previously described as a secondary chromosomal abnormality in accelerated- or blast-phase of chronic myeloid leukemia (CML) with resistance to imatinib mesylate or dasatinib. Here, we present a case with idic(Ph) chromosome identified at initial diagnosis in a patient with chronic-phase CML. PMID:26783434

  5. Lymph node tuberculosis after allogeneic haematopoietic stem cell transplantation: an atypical presentation of an uncommon complication

    PubMed Central

    Martn-Snchez, Guillermo; Drake-Prez, Marta; Rodriguez, Jos Luis; Yaez, Lucrecia; Insunza, Andrs; Richard, Carlos

    2015-01-01

    Mycobacterium tuberculosis infections are uncommon complications in the haematopoietic stem cell post-transplant period. Most cases are reactivations of latent infections affecting the lung. We present an atypical case of isolated lymph node tuberculosis after an allogeneic haematopoietic stem cell transplantation, which highlights the importance of having a high suspicion index, even in non-endemic countries. PMID:26015804

  6. Languages of Eastern Asia. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Eastern Asia. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native language is

  7. An uncommon location of Meckel's diverticulum or small intestine duplication? Case report and literature review.

    PubMed

    Walczak, Dominik A; Fa?ek, Wojciech; Zakrzewski, Jacek

    2011-08-01

    Meckel's diverticulum is the most common congenital abnormality of alimentary tract. The antimesenteric location is one of the cardinal attribiutes of this pathology. We report case which tries to verify this dogma. The literature regarding uncommon location of Meckel's diverticulum was also reviewed. PMID:22166720

  8. Renal artery aneurysm in pregnancy presenting as an arteriovenous fistula: an uncommon presentation

    PubMed Central

    Manogran, Vijayan; Govindarajan, Naresh; Naidu, Kantha Rao Simmadari

    2015-01-01

    Renal artery aneurysms (RAAs) are uncommon. RAA is generally an incidental finding; however, in certain instances, it may be a devastating pathology. This is particularly true in case of pregnant females where the incidence of rupture is high if untreated, with high mortality rates for both the mother and the fetus. Early intervention in this particular high-risk group is advocated. PMID:26328212

  9. Languages of South Asia. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of South Asia. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native language is

  10. Uncommon breeding birds in North Dakota: Population estimates and frequencies of occurrence

    USGS Publications Warehouse

    Igl, L.D.; Johnson, D.H.; Kantrud, H.A.

    1999-01-01

    Breeding bird populations were surveyed on 128 randomly selected quarter-sections throughout North Dakota in 1967, 1992, and 1993. Population estimates and frequencies of occurrence are reported for 92 uncommon breeding bird species with statewide frequencies of less than 10%.

  11. Insulin Injection Site Dystrophic Calcification with Fat Necrosis: A Case Report of an Uncommon Adverse Effect

    PubMed Central

    Ramdas, Sharad; Ramdas, Anita; Ambroise, Moses

    2014-01-01

    We report a case of an uncommon adverse effect of insulin injection resulting in hard subcutaneous swelling in the lower abdomen of a 47-year-oldfemale with type 1 diabetes. Extensive dystrophic calcification and fat necrosis was revealed on histopathological examination. PMID:25374868

  12. Uncommon acute neurologic presentation of canine distemper in 4 adult dogs

    PubMed Central

    Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.

    2014-01-01

    Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139

  13. Distribution Patterns of Ohio Stoneflies, with an Emphasis on Rare and Uncommon Species

    PubMed Central

    Grubbs, Scott A.; Pessimo, Massimo; DeWalt, R. Edward

    2013-01-01

    Presently, 102 stonefly species (Plecoptera) have been reported from Ohio. All 9 Nearctic families are represented. Over 90% of the fauna exhibit a combination of broad Nearctic-widespread, eastern Nearctic-widespread, Appalachian, and eastern Nearctic-unglaciated distributions. In contrast, only 2 species display a central Nearctic-Prairie distribution. Seven species of Perlidae are likely no longer present (Acroneuria evoluta Klapálek, A. perplexa Frison, Attaneuria ruralis (Hagen), and Neoperla mainensis Banks) or have experienced marked range reductions (Acroneuria abnormis (Newman), A. frisoni Stark and Brown, and A. filicis Frison). Another nearly 31% of the fauna (32 species) are rare, uncommon, or have highly-limited distributions within the state. Twelve of these species have Appalachian distributions, and an additional 8 have eastern Nearctic-unglaciated distributions. The distributional status for each of the 32 rare/uncommon species is discussed. PMID:24219390

  14. Peritonitis due to uncommon gram-positive pathogens in children undergoing peritoneal dialysis

    PubMed Central

    Dotis, J; Printza, N; Papachristou, F

    2012-01-01

    Peritonitis is still the main complication of peritoneal dialysis (PD) in children. Staphylococcus, especially Staphylococcus epidermidis and Staphylococcus aureus, are the predominant species isolated, followed by Streptococcus spp. and by far by gram-negative bacteria and fungi. We describe three cases of PD-related peritonitis in pediatric patients due to uncommon gram-positive pathogens, which were treated with intraperitoneal antibiotic agents. PMID:23935296

  15. Temozolomide-related idiosyncratic and other uncommon toxicities: a systematic review.

    PubMed

    Dixit, Sanjay; Baker, Louise; Walmsley, Vicki; Hingorani, Mohan

    2012-11-01

    Temozolomide (TMZ)-related idiosyncratic and other uncommon toxicities have been reported. To better characterize these toxicities and to identify any associated risk factors, we performed a systematic review. We searched the PubMed database, limited to the English language, published between 1999 and December 2011. We selected only those articles in which TMZ was temporally related and was the sole or main contributing chemotherapeutic drug to idiosyncratic drug reactions (IDRs) and other uncommon toxicities. Hematological IDRs are biopsy-proven aplastic anemia or grade V toxicity or grade IV toxicity with slow and incomplete hematological recovery. Seventy-three cases were identified, including 21 hematological IDRs, 31 nonhematological IDRs and uncommon infections, and 21 second primary cancers. With a caveat of publication and reporting bias, the following observations could be made. The hematological IDRs predominantly occurred in female patients (exact binomial two-tailed, P=0.0041) and most patients were receiving TMZ concomitantly with radiotherapy for glioma. The median duration of exposure to TMZ was 30 days and the median cumulative TMZ exposure was 2250 mg/m (range, 500-6900 mg/m). The sex predilection was not evident in nonhematological IDRs and other uncommon toxicities. TMZ-induced pneumonitis and cholestatic hepatitis are emerging as a nonhematological hypersensitive reaction and IDR, respectively. For TMZ-related myelodysplasia or leukemia, the cumulative dose of TMZ ranged from 1400 to 30 000 mg/m. The cumulative dose of TMZ was lower and latency was shorter with a previous exposure to other leukemogenic drugs, suggesting that TMZ may have augmented the leukemogenic potential of other drugs. Early appearance of profound myelosuppression during the course of TMZ and concurrent radiotherapy could be a hematological IDR, which warrants prompt investigations to exclude aplastic anemia. Myelodysplasia or leukemia developed after a median TMZ exposure of 15 g/m. PMID:22850321

  16. Common and uncommon adult unilateral renal masses other than renal cell carcinoma

    PubMed Central

    Le, Ott; Roy, Anjali; Silverman, Paul M.; Kundra, Vikas

    2012-01-01

    Abstract Many different masses can involve the kidney other than the commonly encountered renal cell carcinoma (RCC). The purpose of this article is to review the characteristic clinical and imaging findings of common and uncommon masses that predominantly present unilaterally in the adult patient, other than RCC. Awareness of such lesions and knowing the clinical scenario is important for appropriate diagnosis and management, especially in a multidisciplinary care setting. PMID:22752221

  17. Well-differentiated fetal adenocarcinoma: a very uncommon malignant lung tumor.

    PubMed

    El Ouazzani, H; Jniene, A; Bouchikh, M; Achachi, L; El Ftouh, M; Achir, A; El Fassy Fihry, M T

    2012-01-01

    Well-differentiated fetal adenocarcinoma (WDFA) is a very uncommon malignant tumor originating in the lung. This report describes the case of a 38-year-old woman with a WDFA treated by surgery. The malignancy is low grade and associated with a good prognosis, and so it is important for clinicians to be aware of and to identify this rare variant of adenocarcinoma. PMID:21778030

  18. Uncommon complications of therapeutic endoscopic ultrasonography: What, why, and how to prevent

    PubMed Central

    Chantarojanasiri, Tanyaporn; Aswakul, Pitulak; Prachayakul, Varayu

    2015-01-01

    There is an increasing role for endoscopic ultrasound (EUS)-guided interventions in the treatment of many conditions. Although it has been shown that these types of interventions are effective and safe, they continue to be considered only as alternative treatments in some situations. This is in part due to the occurrence of complications with these techniques, which can occur even when performed by experienced endosonographers. Although common complications have been described for many procedures, it is also crucial to be aware of uncommon complications. This review describes rare complications that have been reported with several EUS-guided interventions. EUS-guided biliary drainage is accepted as an alternative treatment for malignant biliary obstruction. Most of the uncommon complications related to this procedure involve stent malfunction, such as the migration or malposition of stents. Rare complications of EUS-guided pancreatic pseudocyst drainage can result from air embolism and infection. Finally, a range of uncommon complications has been reported for EUS-guided celiac plexus neurolysis, involving neural and vascular injuries that can be fatal. The goal of this review is to identify possible complications and promote an understanding of how they occur in order to increase general awareness of these adverse events with the hope that they can be avoided in the future. PMID:26265989

  19. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

    PubMed

    Lanktree, Matthew B; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T; Bailey, Swneke D; Onland-Moret, N Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J; Maloney, Cliona M; Lobmeyer, Maximilian T; Stanton, Alice; Zafarmand, M Hadi; Romaine, Simon P R; Mehta, Amar; van Iperen, Erik P A; Gong, Yan; Price, Tom S; Smith, Erin N; Kim, Cecilia E; Li, Yun R; Asselbergs, Folkert W; Atwood, Larry D; Bailey, Kristian M; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R; Bhangale, Tushar; Boer, Jolanda M A; Boehm, Bernhard O; Bradfield, Jonathan P; Brown, Morris; Braund, Peter S; Burton, Paul R; Carty, Cara; Chandrupatla, Hareesh R; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; Boer, Anthonius de; Drenos, Fotios; Elbers, Clara C; Fang, James C; Fox, Caroline S; Frackelton, Edward C; Fuchs, Barry; Furlong, Clement E; Gibson, Quince; Gieger, Christian; Goel, Anuj; Grobbee, Diederik E; Hastie, Claire; Howard, Philip J; Huang, Guan-Hua; Johnson, W Craig; Li, Qing; Kleber, Marcus E; Klein, Barbara E K; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; Lacroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshall, Vanessa; Melander, Olle; Mentch, Frank D; Meyer, Nuala J; Monda, Keri L; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondahl, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J; Otieno, F George; Patel, Sanjey R; Putt, Mary E; Rodriguez, Santiago; Safa, Radwan N; Sawyer, Douglas B; Schreiner, Pamela J; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K; Thomas, Kelly A; Thorand, Barbara; Timpson, Nicholas J; Tischfield, Sam; Tobin, Martin; Tomaszewski, Maciej; Tomaszweski, Maciej; Verschuren, W M Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M; Clarke, Robert; Balmforth, Anthony J; Danesh, John; Day, Ian N; Schork, Nicholas J; de Bakker, Paul I W; Delles, Christian; Duggan, David; Hingorani, Aroon D; Hirschhorn, Joel N; Hofker, Marten H; Humphries, Steve E; Kivimaki, Mika; Lawlor, Debbie A; Kottke-Marchant, Kandice; Mega, Jessica L; Mitchell, Braxton D; Morrow, David A; Palmen, Jutta; Redline, Susan; Shields, Denis C; Shuldiner, Alan R; Sleiman, Patrick M; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C; Casas, Juan P; Hall, Alistair S; Doevendans, Pieter A; Christie, Jason D; Berenson, Gerald S; Murray, Sarah S; Illig, Thomas; Dorn, Gerald W; Cappola, Thomas P; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J; Reilly, Muredach P; Caulfield, Mark; Talmud, Philippa J; Topol, Eric; Engert, James C; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P; Silverstein, Roy L; Lange, Leslie A; Sabatine, Marc S; Trip, Mieke; Saleheen, Danish; Peden, John F; Cruickshanks, Karen J; März, Winfried; O'Connell, Jeffrey R; Klungel, Olaf H; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E; Johnson, Julie A; Jarvik, Gail P; Papanicolaou, George J; Grant, Struan F A; Munroe, Patricia B; North, Kari E; Samani, Nilesh J; Koenig, Wolfgang; Gaunt, Tom R; Anand, Sonia S; van der Schouw, Yvonne T; Soranzo, Nicole; Fitzgerald, Garret A; Reiner, Alex; Hegele, Robert A; Hakonarson, Hakon; Keating, Brendan J

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait. PMID:21194676

  20. Moral identity and the experience of moral elevation in response to acts of uncommon goodness.

    PubMed

    Aquino, Karl; McFerran, Brent; Laven, Marjorie

    2011-04-01

    Four studies using survey and experimental designs examined whether people whose moral identity is highly self-defining are more susceptible to experiencing a state of moral elevation after being exposed to acts of uncommon moral goodness. Moral elevation consists of a suite of responses that motivate prosocial action tendencies. Study 1 showed that people higher (vs. lower) in moral identity centrality reported experiencing more intense elevating emotions, had more positive views of humanity, and were more desirous of becoming a better person after reading about an act of uncommon goodness than about a merely positive situation or an act of common benevolence. Study 2 showed that those high in moral identity centrality were more likely to recall acts of moral goodness and experience moral elevation in response to such events more strongly. These experiences were positively related to self-reported prosocial behavior. Study 3 showed a direct effect on behavior using manipulated, rather than measured, moral identity centrality. Study 4 replicated the effect of moral identity on the states of elevation as well as on self-reported physical sensations and showed that the elevation mediates the relationship between moral identity, witnessing uncommon goodness, and prosocial behavior. PMID:21443375

  1. Characterization of uncommon portosystemic collateral circulations in patients with hepatic cirrhosis

    PubMed Central

    WU, QIN; SHEN, LIJUN; CHU, JINDONG; MA, XUEMEI; JIN, BO; MENG, FANPING; CHEN, JINPIN; WANG, YANLING; WU, LIBING; HAN, JUN; ZHANG, WENHUI; MA, WEI; WANG, HUAMING; LI, HANWEI

    2015-01-01

    The purpose of the present study was to characterize uncommon portosystemic collateral circulation in hepatic cirrhosis. Portosystemic uncommon collateral circulation (UCC) was detected, characterized and evaluated by a combination of spiral computed tomography angiography, three-dimensional imaging angiography and electronic gastroscopy in patients diagnosed with hepatic cirrhosis. In total, 118 cases with UCC were detected from a pool of 700 hepatic cirrhosis patients with portal hypertension. The incidence was 16.86% and included cases with splenic-renal, gastro-renal, paravertebral, retroperitoneal, gastric-splenic and cardio-phrenic angle vein shunts. The occurrence rate of UCC formation increased with the Child-Pugh grade. Compared with common collateral circulations, the incidence of severe esophageal or gastric fundus varicose veins, severe portal hypertensive gastropathy and the incidence of a large quantity of ascites was much lower in the patients with UCC (P<0.01), whereas the incidence of hepatic encephalopathy and chronic elevated blood ammonia levels was significantly higher (P<0.01). The incidence of uncommon portosystemic collateral circulation is extremely common in patients with liver cirrhosis and is associated with the Child-Pugh grades of hepatic function. UCC can aid in the relief of the complications derived from portal hypertension, but it may increase the incidence of hepatic encephalopathy and chronic elevated blood ammonia levels. PMID:25435990

  2. A severe foodborne outbreak of diarrhoea linked to a canteen in Italy caused by enteroinvasive Escherichia coli, an uncommon agent.

    PubMed

    Escher, M; Scavia, G; Morabito, S; Tozzoli, R; Maugliani, A; Cantoni, S; Fracchia, S; Bettati, A; Casa, R; Gesu, G P; Torresani, E; Caprioli, A

    2014-12-01

    We describe a foodborne outbreak in Italy caused by enteroinvasive Escherichia coli (EIEC), an enteric pathogen uncommon in industrialized countries. On 14 April 2012 a number of employees of the city of Milan Fire Brigade (FB) were admitted to hospital with severe diarrhoea after attending their canteen. Thirty-two patients were hospitalized and a total of 109 cases were identified. A case-control study conducted on 83 cases and 32 controls attending the canteen without having symptoms identified cooked vegetables to be significantly associated with the disease. Stool samples collected from 62 subjects were screened for enteric pathogens using PCR-based commercial kits: 17 cases and two asymptomatic kitchen-workers were positive for the Shigella marker gene ipaH; an ipaH-positive EIEC strain O96:H19 was isolated from six cases. EIEC may cause serious dysentery-like outbreaks even in Western European countries. Microbiologists should be aware of microbiological procedures to detect EIEC, to be applied especially when no common enteric pathogens are identified. PMID:24534429

  3. Anaesthetic management for a patient with Dejerine-Sottas disease and asthma.

    PubMed

    Huang, J; Soliman, I

    2001-03-01

    Dejerine-Sottas disease is a very uncommon degenerative disease of the peripheral nervous system. The details of perioperative anaesthetic management are discussed including the use of epidural anaesthesia, with supplemental intravenous anaesthesia and an LMA. PMID:11240883

  4. Case series of choroid plexus papilloma in children at uncommon locations and review of the literature

    PubMed Central

    Prasad, G. Lakshmi; Mahapatra, Ashok Kumar

    2015-01-01

    Background: Choroid plexus papillomas (CPPs) comprise around 1% of intracranial neoplasms. The most common location is atrium of the lateral ventricle in children and fourth ventricle in adults. Other rare locations include third ventricle, cerebellopontine (CP) angle and cerebral parenchyma, with only a few cases reported. Authors report three cases of CPP at uncommon locations in pediatric patients. The rarity of these locations, diagnostic dilemma and management aspects are discussed along with an extensive review of the literature. Methods: Retrospective institutional data analysis of histopathologically confirmed pediatric CPPs from 2010 to 2014. Results: Authors noted three cases of CPP in children in uncommon locations-one each in the posterior third ventricle, fourth ventricle, and CP angle. All were males in the first decade. Two cases presented with features of obstructive hydrocephalus while the latter presented with compressive effects. Complete excision was achieved in two cases while subtotal removal was performed in one case (fourth ventricular) because of excess blood loss. Mean follow-up duration was 24.6 months (range 2030 months). One case (of subtotal removal) had fair recovery while other two had excellent outcomes. Conclusions: Posterior third ventricle, fourth ventricle, and CP angle are uncommon locations for these tumors in children. Complete surgical removal is the treatment of choice and approach needs to be tailored according to the site and size of the lesion. Blood loss is a major concern in young children as they are highly vascular tumors. Complete removal leads to excellent long-term survival rates. Adjuvant treatment is not required. PMID:26500797

  5. [Placenta percreta with bladder invasion: an uncommon cause of hematuria during pregnancy].

    PubMed

    Sierra-Sols, A; Leo-Barahona, M; Romero-Lpez, A I; Gmez-Guerrero, J M

    2014-01-01

    Placenta percreta with bladder invasion is a very uncommon condition that can lead to very severe complications in pregnant women. Although it is often diagnosed during delivery, imaging techniques are very useful for early diagnosis, which is fundamental for planning surgery and avoiding potentially lethal complications. We present the case of a woman with a history of cesarean section who presented with hematuria and low back pain. The diagnosis of placenta percreta with bladder invasion was suggested after ultrasonography and magnetic resonance imaging and was confirmed at surgery. We provide a brief review of the literature, emphasizing the role of imaging techniques. PMID:23523415

  6. Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum.

    PubMed

    Di Lernia, Vito; Ricci, Cinzia

    2006-01-01

    Folliculitis spinulosa decalvans is an uncommon condition characterized by follicular hyperkeratosis, followed by scarring alopecia. We report a 12-year-old boy affected by keratotic papules of the scalp and keratosis pilaris of the limbs who developed erythema, pustules, and scale crusts on the scalp associated with scarring alopecia. Histologic examination showed follicular and interfollicular hyperkeratosis, follicular plugging, mild inflammation, and focal scarring. A transient remission of the inflammatory changes on the scalp was obtained after treatment with isotretinoin. The follicular spinulous hyperkeratosis persisted. A severe relapse of the scalp inflammation was observed during a 2-year follow-up. PMID:16780474

  7. An uncommon case of severe accidental hypothermia in an urban setting

    PubMed Central

    Meytes, Vadim; Schulberg, Steven P.; Amaturo, Michael; Kilaru, Mohan

    2015-01-01

    Accidental hypothermia is an uncommon presentation in urban settings. Here we present a patient admitted with a core temperature of 26.6°C (80°F) and a serum potassium of 8.5 mmol/l who subsequently went into cardiac arrest. After > 90 min of active cardiopulmonary resuscitation and peak serum potassium of >12 mmol/l, the patient had a spontaneous return of circulation. The patient's hospital course was complicated by compartment syndrome of his forearm; however, he was discharged home without any lasting neurological damage. PMID:26664726

  8. Pneumonia by Listeria monocytogenes: A Common Infection by an Uncommon Pathogen

    PubMed Central

    Koufakis, Theocharis; Chatzopoulou, Marianneta; Margaritis, Anastasios; Tsiakalou, Maria; Gabranis, Ioannis

    2015-01-01

    Infections by Listeria monocytogenes typically occur in infants, the elderly, pregnant women, and immunosuppressed subjects. Pulmonary infections in adults are extremely uncommon and only few reports can be found in the literature. We here report a case of Listeria pneumonia in an 85-year-old female patient and we discuss our diagnostic and therapeutic approach. Despite being rare and in most cases difficult to be identified, Listeria pneumonia should always be considered in immunosuppressed patients, presenting with fever and symptoms from the lower respiratory system. PMID:25802774

  9. Unruptured Sinus of Valsalva Aneurysm Obstructing the Left Ventricular Outflow Tract: An Uncommon Presentation in Childhood.

    PubMed

    Murli, Lakshmi; Shah, Prashant; Sekar, Prem; Surya, Karthik

    2016-01-01

    Congenital aneurysms of the sinus of Valsalva are uncommon abnormalities that are usually silent and slowly progressive without symptoms of cardiac dysfunction unless catastrophic rupture occurs. However, in rare cases, unruptured aneurysms can produce symptoms resulting from compression of adjacent structures, ventricular outflow tract obstruction, heart block, and coronary and valvular insufficiency. We report a case of a single unruptured sinus of Valsalva aneurysm producing left ventricular outflow tract obstruction in an 8-year-old boy who presented with chest pain on exertion. PMID:26694306

  10. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)-An uncommon precursor of a common cancer?

    PubMed

    Baniak, Nick M; Wilde, Brent; Kanthan, Rani

    2016-02-01

    Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare, likely under recognized entity. We report on six cases of DIPNECH that were seen in Saskatoon, SK. The cases largely have the characteristics of the typical patient profile thus far described in the literature, consistent with the limited information reported to date. Furthermore, one case had co-existing squamous cell carcinoma, which has not been previously described, and one case had concomitant adenocarcinoma. In this context, we explore the hypothesis of whether DIPNECH could play a role as an uncommon precursor in pulmonary tumorigenesis. We also propose improved diagnostic criteria for DIPNECH, which are currently ill-defined. PMID:26724142

  11. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    PubMed

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother. PMID:26919505

  12. An uncommon treatment of totally extruded and lost talus: a case report

    PubMed Central

    2014-01-01

    Introduction Total extrusion and loss of the talus is a rare injury with a wide choice of appropriate treatment, but rarely resulting in a fully functional recovery. We report on an uncommon case, both for the severity of the injury and for the uncommon treatment due to the patients rejection of secondary surgery. Case presentation We treated a 16-year-old Caucasian man with the most extreme variant of a totally extruded and lost talus, accompanied with complex injury of the soft tissues of the ankle and foot. The treatment included urgent microvascular foot reimplantation, microvascular muscle free flap transfer, and temporary fixation. This kind of injury should typically be treated by tibiocalcaneal arthrodesis. However, this was not performed, as after the successful early stages of the treatment he strongly objected to another surgery due to his fully functional status and the successful therapeutic results of our early treatment. Conclusions The injury described in this case study would ordinarily be treated by amputation, but due to the well-executed treatment in the early stages after the injury, the outcome was satisfying. Surprisingly and against our expectations, the late results of the treatment were successful even without arthrodesis. He is now 37 years old and has a functional foot 21 years after the injury. PMID:25266945

  13. The Cyborg Astrobiologist: scouting red beds for uncommon features with geological significance

    NASA Astrophysics Data System (ADS)

    McGuire, Patrick Charles; Daz-Martnez, Enrique; Orm, Jens; Gmez-Elvira, Javier; Rodrguez-Manfredi, Jos Antonio; Sebastin-Martnez, Eduardo; Ritter, Helge; Haschke, Robert; Oesker, Markus; Ontrup, Jrg

    2005-04-01

    The `Cyborg Astrobiologist' has undergone a second geological field trial, at a site in northern Guadalajara, Spain, near Riba de Santiuste. The site at Riba de Santiuste is dominated by layered deposits of red sandstones. The Cyborg Astrobiologist is a wearable computer and video camera system that has demonstrated a capability to find uncommon interest points in geological imagery in real time in the field. In this second field trial, the computer vision system of the Cyborg Astrobiologist was tested at seven different tripod positions, on three different geological structures. The first geological structure was an outcrop of nearly homogeneous sandstone, which exhibits oxidized-iron impurities in red areas and an absence of these iron impurities in white areas. The white areas in these `red beds' have turned white because the iron has been removed. The iron removal from the sandstone can proceed once the iron has been chemically reduced, perhaps by a biological agent. In one instance the computer vision system found several (iron-free) white spots to be uncommon and therefore interesting, as well as several small and dark nodules. The second geological structure was another outcrop some 600 m to the east, with white, textured mineral deposits on the surface of the sandstone, at the bottom of the outcrop. The computer vision system found these white, textured mineral deposits to be interesting. We acquired samples of the mineral deposits for geochemical analysis in the laboratory. This laboratory analysis of the crust identifies a double layer, consisting of an internal millimetre-size layering of calcite and an external centimetre-size efflorescence of gypsum. The third geological structure was a 50 cm thick palaeosol layer, with fossilized root structures of some plants. The computer vision system also found certain areas of these root structures to be interesting. A quasi-blind comparison of the Cyborg Astrobiologist's interest points for these images with the interest points determined afterwards by a human geologist shows that the Cyborg Astrobiologist concurred with the human geologist 68% of the time (true-positive rate), with a 32% false-positive rate and a 32% false-negative rate. The performance of the Cyborg Astrobiologist's computer vision system was by no means perfect, so there is plenty of room for improvement. However, these tests validate the image-segmentation and uncommon-mapping technique that we first employed at a different geological site (Rivas Vaciamadrid) with somewhat different properties for the imagery.

  14. Isolated sixth nerve palsy: an uncommon presenting sign of multiple sclerosis.

    PubMed

    Barr, D; Kupersmith, M J; Turbin, R; Bose, S; Roth, R

    2000-09-01

    We describe three patients in whom an isolated sixth nerve palsy was the only clinical symptom or sign of multiple sclerosis (MS). Data were collected prospectively over 6 years on these three patients, who showed no other signs of brainstem dysfunction or prior symptoms; in addition. Retrospective analysis of all patients with MS and all patients with sixth nerve palsy referred to a neuro-ophthalmology service between 1982 and 1998 showed isolated sixth nerve palsy to be the presenting sign of MS in only 0.5% of these patients. MS was the cause of isolated sixth nerve palsy in 0.8% of all patients and in 1.6% of those aged 18-50 years. Although it has been previously suggested that sixth nerve palsy is a not uncommon presenting sign of MS, our results suggest it is rare. PMID:11081810

  15. Rivaroxaban-Induced Nontraumatic Spinal Subdural Hematoma: An Uncommon Yet Life-Threatening Complication

    PubMed Central

    Zaarour, Mazen; Hassan, Samer; Thumallapally, Nishitha; Dai, Qun

    2015-01-01

    In the last decade, the desire for safer oral anticoagulants (OACs) led to the emergence of newer drugs. Available clinical trials demonstrated a lower risk of OACs-associated life-threatening bleeding events, including intracranial hemorrhage, compared to warfarin. Nontraumatic spinal hematoma is an uncommon yet life-threatening neurosurgical emergency that can be associated with the use of these agents. Rivaroxaban, one of the newly approved OACs, is a direct factor Xa inhibitor. To the best of our knowledge, to date, only two published cases report the incidence of rivaroxaban-induced nontraumatic spinal subdural hematoma (SSDH). Our case is the third one described and the first one to involve the cervicothoracic spine. PMID:26543654

  16. An uncommon cause of acutely altered mental status in a renal transplant recipient

    PubMed Central

    Vernadakis, Spiridon; Lionaki, Sofia; Daikos, Georgios; Zavos, Georgios

    2014-01-01

    Introduction Neurological complications are quite frequent in patients after solid organ transplantation presenting with focal or generalized neurologic symptoms as well as altered mental status. Posterior reversible encephalopathy syndrome is a rare cliniconeuroradiological entity characterized by headache, altered mental status, cortical blindness, seizures, and other focal neurological signs and a diagnostic magnetic resonance imaging. Case report We present a case of a 57-year-old woman with one episode of seizures and sudden onset of altered mental status (time and person perception) accompanied with headache at the thirtieth postoperative day after renal transplantation. Conclusion Posterior reversible encephalopathy syndrome, although an uncommon post-renal transplantation complication, should be considered in these patients, as several factors surrounding the setting of transplantation have been implicated in its development. Thus, physicians should be aware of this condition in order to establish the diagnosis and offer appropriate treatment. PMID:24079344

  17. Giant Cells Glioblastoma: Case Report and Pathological Analysis from This Uncommon Subtype of Glioma

    PubMed Central

    Belsuzarri, Telmo A.B.; Araujo, Joo F.M.; Catanoce, Aguinaldo P.; Neves, Maick W.F.; Sola, Rodrigo A.S.; Navarro, Juliano N.; Brito, Leandro G.; Silva, Nilton R.; Pontelli, Luis Otavio C.; Mattos, Luiz Gustavo A.; Gonales, Tiago F.; Zeviani, Wolnei M.; Marques, Renata M.B.

    2015-01-01

    Glioblastoma multiforme (GBM) is the most common glial tumor of the brain system; nevertheless, the giant cell (GC) subtype is uncommon. Recent reviews report for an incidence of 1% in adults and 3% in children. The GCs usually have a better prognosis than GBM and also an increasing long-term survival rate. It is known that the diagnosis of this tumor is due to its histological findings and patterns, such as the unusual increased number of giant cells. Unfortunately, due to its rarity, the immunohistochemical and cytogenetical analysis of this tumor is not well known. Some authors also suggest that there are few subtypes of GCs and their patterns of aggressiveness could be due to cytogenetical markers. It is recognized that maximum safe resection treatment and adjuvant radiotherapy can improve survival rate (5-13 months) similar to GBM patients. PMID:25918606

  18. Two uncommon cases of uterine leiomyosarcomas displaying heterologous osteosarcomatous de-differentiation.

    PubMed

    Parikh, Pinki; Maheshwari, Amita; Rekhi, Bharat

    2015-01-01

    Uterine leiomyosarcomas uncommonly arise on a background of leiomyomas. Still rare is osteosarcomatous dedifferentiation in such tumors. A 60-year-old female presented with abdominal pain and underwent radiological imaging that disclosed a large, well-defined, heterogeneously enhancing uterine tumor. She underwent total abdominal hysterectomy with bilateral salpingectomy. Another, 38-year-old female with the complaints of infertility underwent myomectomy for multiple fibroids. Multiple tumor sections from both the cases showed leiomyomas along with leiomyosarcomas and osteosarcomatous dedifferentiation. Immunohistochemically, both the tumors displayed diffuse expression of smooth muscle markers in areas of leiomyomas, reduced expression of the same in areas of leiomyosarcoma and absent expression in areas of osteosarcomatous dedifferentiation. Unfortunately, both the cases were lost to follow-up. Present cases constitute as rare documentations of uterine leiomyosarcomas, arising on a background of leiomyomas and exhibiting osteosarcomatous dedifferentiation. The value of identifying these tumor components, with extensive tumor sampling relates to their relatively aggressive clinical course. PMID:26458644

  19. Apomictic parthenogenesis in a parasitoid wasp Meteorus pulchricornis, uncommon in the haplodiploid order Hymenoptera.

    PubMed

    Tsutsui, Y; Maeto, K; Hamaguchi, K; Isaki, Y; Takami, Y; Naito, T; Miura, K

    2014-06-01

    Although apomixis is the most common form of parthenogenesis in diplodiploid arthropods, it is uncommon in the haplodiploid insect order Hymenoptera. We found a new type of spontaneous apomixis in the Hymenoptera, completely lacking meiosis and the expulsion of polar bodies in egg maturation division, on the thelytokous strain of a parasitoid wasp Meteorus pulchricornis (Wesmael) (Braconidae, Euphorinae) on pest lepidopteran larvae Spodoptera litura (Fabricius) (Noctuidae). The absence of the meiotic process was consistent with a non-segregation pattern in the offspring of heterozygous females, and no positive evidence was obtained for the induction of thelytoky by any bacterial symbionts. We discuss the conditions that enable the occurrence of such rare cases of apomictic thelytoky in the Hymenoptera, suggesting the significance of fixed heterosis caused by hybridization or polyploidization, symbiosis with bacterial agents, and occasional sex. Our finding will encourage further genetic studies on parasitoid wasps to use asexual lines more wisely for biological control. PMID:24521569

  20. Uncommon Trimethoxylated Flavonol Obtained from Rubus rosaefolius Leaves and Its Antiproliferative Activity

    PubMed Central

    Petreanu, Marcel; Ferreira, Emili Kamila; Sagaz, Ana Paula M.; Vendramini-Costa, Débora B.; Ruiz, Ana Lúcia T. G.; De Carvalho, João Ernesto; Campos, Adriana; Cechinel Filho, Valdir; Delle Monache, Franco; Niero, Rivaldo

    2015-01-01

    This study shows the evaluation the antiproliferative effect of the extract, fractions, and uncommon compounds isolated from R. rosaefolius leaves. The compounds were identified by conventional spectroscopic methods such as NMR-H1 and C13 and identified as 5,7-dihydroxy-6,8,4′-trimethoxyflavonol (1), 5-hydroxy-3,6,7,8,4′-pentamethoxyflavone (2), and tormentic acid (3). Both hexane and dichloromethane fractions showed selectivity for multidrug-resistant ovary cancer cell line (NCI-ADR/RES) with total growth inhibition values of 11.1 and 12.6 μg/ml, respectively. Compound 1 also showed selective activity against the same cell line (18.8 μg/ml); however, it was especially effective against glioma cells (2.8 μg/ml), suggesting that this compound may be involved with the in vitro antiproliferative action. PMID:26788108

  1. Labor analgesia for the parturient with an uncommon disorder: a common dilemma in the delivery suite.

    TOXLINE Toxicology Bibliographic Information

    Kuczkowski KM

    2003-12-01

    There appears to be an absence of uniform guidelines for management of labor analgesia in pregnant patients with uncommon medical conditions such as Marfan's syndrome, Ehlers-Danlos syndrome, achondroplastic dwarfism, previous back surgery, and kyphoscoliosis. A Medline search for articles highlighting considerations for obstetric anesthesia in parturients with these disorders was performed. Because of the multiorgan involvement and varied presentations of these disorders, no uniform or routine obstetric anesthetic recommendations can be made. In the absence of uniform obstetric anesthesia guidelines for pregnant patients with Marfan's syndrome, Ehlers-Danlos syndrome, achondroplastic dwarfism, previous back surgery, and kyphoscoliosis, the decision whether to administer regional anesthesia (epidural labor analgesia) should be based on an individual risk-to-benefit ratio on a case-by-case basis.

  2. Labor analgesia for the parturient with an uncommon disorder: a common dilemma in the delivery suite.

    PubMed

    Kuczkowski, Krzysztof M

    2003-12-01

    There appears to be an absence of uniform guidelines for management of labor analgesia in pregnant patients with uncommon medical conditions such as Marfan's syndrome, Ehlers-Danlos syndrome, achondroplastic dwarfism, previous back surgery, and kyphoscoliosis. A Medline search for articles highlighting considerations for obstetric anesthesia in parturients with these disorders was performed. Because of the multiorgan involvement and varied presentations of these disorders, no uniform or routine obstetric anesthetic recommendations can be made. In the absence of uniform obstetric anesthesia guidelines for pregnant patients with Marfan's syndrome, Ehlers-Danlos syndrome, achondroplastic dwarfism, previous back surgery, and kyphoscoliosis, the decision whether to administer regional anesthesia (epidural labor analgesia) should be based on an individual risk-to-benefit ratio on a case-by-case basis. PMID:14668661

  3. Pigmented Paget's disease of the nipple.

    PubMed

    Szpor, Joanna; Polak, Karina; Dyduch, Grzegorz; Okon, Krzysztof; Hodorowicz-Zaniewska, Diana; Brzuzkiewicz, Karolina; Streb, Joanna

    2015-03-01

    Pigmented Paget's disease of the nipple (PPD) is an uncommon variant of Paget's disease. An accumulation of melanin within the lesion imparts a brow color to the affected area, so the lesion might clinically as well as histologically mimic melanoma. We present a case of PPD in a 60-year-old woman. PMID:26204599

  4. Chronic Lyme disease.

    PubMed

    Lantos, Paul M

    2015-06-01

    Chronic Lyme disease is a poorly defined diagnosis that is usually given to patients with prolonged, unexplained symptoms or with alternative medical diagnoses. Data do not support the proposition that chronic, treatment-refractory infection with Borrelia burgdorferi is responsible for the many conditions that get labeled as chronic Lyme disease. Prolonged symptoms after successful treatment of Lyme disease are uncommon, but in rare cases may be severe. Prolonged courses of antibiotics neither prevent nor ameliorate these symptoms and are associated with considerable harm. PMID:25999227

  5. Diseases of the Equine Urinary System.

    PubMed

    McLeland, Shannon

    2015-08-01

    Uncommon diseases of the equine urinary system span a variety of etiologies and frequently have nonspecific clinical presentations. Because of the infrequency of equine urinary disease and inconsistencies in clinical symptoms, diagnosis and subsequent treatment of urinary disease in this species may be challenging. This article reviews various diseases of the equine urinary system, morphologies, and potential discriminating clinical and clinicopathologic presentations to aid the clinician in determining a definitive diagnosis in practice. PMID:26021521

  6. Languages of Eastern Europe and the Soviet Union. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Eastern Europe and the Soviet Union. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). Although the focus is on materials for the

  7. Languages of North, Central, and South America. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of North, Central, and South America. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner

  8. Languages of Sub-Saharan Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Sub-Saharan Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native

  9. Languages of Southeast Asia and the Pacific. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Southeast Asia and the Pacific. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult whose native

  10. Languages of the Middle East and North Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of the Middle East and North Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner

  11. Exotic mammal renal disease: causes and clinical presentation.

    PubMed

    Fisher, Peter G

    2006-01-01

    Renal disease is not uncommon in exotic mammals, with degenerative,infectious (bacterial, viral, parasitic), metabolic, nutritional,neoplastic, anatomic, and toxic causes all represented. This article discusses the clinical presentation for the various renal diseases affecting exotic mammals. Anatomic pathology at the gross and microscopic level is reviewed, as is disease pathophysiology unique to the species under discussion. PMID:16407079

  12. Polymer Selection Approach for Commonly and Uncommonly Used Natural Fibers Under Uncertainty Environments

    NASA Astrophysics Data System (ADS)

    AL-Oqla, Faris M.; Sapuan, S. M.

    2015-07-01

    Factors like awareness of the scarcity of non-renewable natural resources, high petroleum prices, and demands for environmental sustainability, as well as reducing the amount of environmental pollution, have led to a renewed interest in natural fiber reinforced polymer composites as a potential bio-based material type. The best polymer matrix type in view of the wide range of conflicting criteria to form a polymeric-based composite material suitable for sustainable industry under an uncertainty environment has still not been sufficiently determined. This work introduces a selection model to evaluate the available polymers for natural fibers to enhance the industrial sustainability theme. The model built was developed to evaluate various polymer types and to determine their relative merits taking account of various conflicting criteria for both commonly used and uncommonly used natural fibers utilizing the analytical hierarchy process technique. It was found that the choice of the best polymer type for a certain fiber type depends strongly on the polymers' intrinsic desirable conflicting characteristics. Polymers evaluations are illustrated for different technical criteria in order to facilitate the polymer selection process for various industrial applications with high confidence levels.

  13. Tuberculosis of the oral cavity: an uncommon but still a live issue

    PubMed Central

    Szponar, Elżbieta

    2015-01-01

    This paper aims at characterizing clinical features, occurrence, diagnostic process and treatment of oral tuberculosis (TB), basing on the available literature. Oral TB manifestations are uncommon and usually secondary to pulmonary changes. They predominantly appear as ulcers. Eruptions are usually single, painful and resistant to conventional treatment. Diagnosis always needs to be confirmed histopathologically. Anti-tubercular systemic therapy is required in every patient diagnosed with oral TB, while topical treatment is only adjuvant. A low incidence of oral TB together with a non-specific clinical picture might pose difficulties in its diagnosis. Oral changes in TB are likely to be overlooked what can result in further spread of Mycobacterium tuberculosis due to a delay in instituting proper treatment. Tuberculosis morbidity has risen recently and more multi-drug resistant strains of TB bacilli are found, what can result in a higher incidence of oral TB. Clinicians should be therefore aware of a possible occurrence of this entity and consider it while making a differential diagnosis of atypical oral changes. PMID:26366156

  14. GNAS codon 201 mutations are uncommon in intraductal papillary neoplasms of the bile duct

    PubMed Central

    Matthaei, Hanno; Wu, Jian; Dal Molin, Marco; Debeljak, Marija; Lingohr, Philipp; Katabi, Nora; Klimstra, David S; Adsay, N Volkan; Eshleman, James R; Schulick, Richard D; Kinzler, Kenneth W; Vogelstein, Bert; Hruban, Ralph H; Maitra, Anirban

    2012-01-01

    Background Activating point mutations of GNAS at codon 201 have been detected in approximately two thirds of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas. Intraductal papillary neoplasms of the bile ducts (IPNBs) morphologically resemble pancreatic IPMNs. This study sought to assess the mutational status of GNAS at codon 201 in IPNBs. Methods Thirty-four patients were included. DNA from microdissected IPNBs was subjected to a polymerase chain reaction and ligation method for the detection of GNAS mutations at codon 201 and of KRAS mutations at codon 12. Mutational status was compared with clinical and pathologic data. Results The IPNBs had a median diameter of 3.5 cm and were located intrahepatically (n= 6), extrahepatically (n= 13), both intra- and extrahepatically (n= 4) or in the gallbladder (intracystic papillary neoplasms, n= 11). Most exhibited pancreatobiliary differentiation (n= 20), high-grade dysplasia (n= 26) and an associated adenocarcinoma (n= 20). Analysis of GNAS codon 201 identified only one mutant sample in a multifocal intestinal subtype intrahepatic IPNB with high-grade dysplasia. Six lesions harboured a KRAS codon 12 mutation. Conclusions GNAS codon 201 mutations are uncommon in IPNBs, by contrast with pancreatic IPMNs. More comprehensive molecular profiling is needed to uncover the pathways involved in IPNB development. PMID:22954004

  15. Situs inversus totalis and abdominal aortic aneurysm: Surgical repair of an extremely uncommon association

    PubMed Central

    Riera Hernndez, Claudia; Prez Ramrez, P.; Esteban Gracia, C.; Jimnez Olivera, M.A.; Llagostera Pujol, S.

    2015-01-01

    Introduction Situs inversus totalis (SIT) is an uncommon congenital syndrome, which refers to a reversal mirror-image of the normal thoracoabdominal organs position. The coexistence of SIT and abdominal aortic aneurysm has been seldom previously reported. Presentation of the case We report a case of a 69-year-old man with SIT and infrarenal abdominal aortic aneurysm (AAA) that underwent open repair with a straight graft through a minilaparatomy without evisceration. Discussion There is no consensus on which should be the optimum approach in cases of open surgical repair of AAA due to the limited number of cases described. The fact of intestinal scrolling to the left abdomen, unlike usual, is due to the anatomical arrangement of the root of the mesentery which is directed obliquely from duodenojejunal on the left side of the vertebra L2 to the ileocecal junction and right sacroiliac joint. Conclusion A minilaparotomy without evisceration and with intestinal scrolling to left hemiabdomen, can be very useful and beneficial on those cases of congenital anatomical abnormalities that may add difficulty during the surgical procedure. PMID:25884612

  16. An uncommon case of a suicide with inhalation of hydrogen cyanide.

    PubMed

    Musshoff, F; Kirschbaum, K M; Madea, B

    2011-01-30

    An uncommon suicide by oral ingestion of potassium cyanide salts and contemporaneous inhalation of hydrogen cyanide is presented. A 48-year-old tradesman was found dead sitting in his car. A penetrating odor of bitter almonds was noticed when opening the doors. A camping stove and a cooking pot containing large amounts of dark blue crystals were found in the footwell of the car. White powder adhered to his fingers and to the area around the mouth. Furthermore bottles containing potassium ferrocyanide and different kinds of acid and leach were found in the car together with internet information about, e.g. potassium ferrocyanide and potassium cyanide. At autopsy hemorrhages and erosions of the mucosa of the respiratory tract, esophagus and stomach were found. Concentrations of cyanide were 0.2mg/l in stomach contents, 0.96mg/kg in brain tissue, 2.79mg/kg in lungs, and 5.3mg/l in blood. The white and toxic powder potassium cyanide was formed by heating of the yellow crystals of potassium ferrocyanide on the camping stove. This powder was probably ingested orally. Addition of acid converted the salt into the highly toxic gas hydrogen cyanide. Oxidation with atmospheric oxygen built the dark blue ferrous compound Prussian blue. This case report of a person who was not familiar with chemicals demonstrates the acquisition of professional information via the internet, enabling a suicide with a complex procedure. PMID:20541881

  17. [Spontaneous intrauterine rupture of the umbilical cord is very uncommon but a serious condition].

    PubMed

    mark, Hanna; Eneroth, Eva

    Spontaneous intrauterine rupture of the umbilical cord is an uncommon and dangerous complication during delivery. We describe a case of a 27-year-old woman with a normal pregnancy. When the membranes broke, the fetal heart sounds suddenly disappeared, and the vaginal bleeding was heavier than normal. An emergency caesarean section was executed and the examination of the placenta revealed a broken umbilical artery. The child was born with an Apgar score of 0,1,1 and a blood gas analysis from the umbilical vein showed pH 6.68 and Base Excess -24.3. Urgent treatment with heart massage, adrenaline, blood transfusion and tribonate was initiated and followed by therapeutic hypothermia. The child was discharged after 10 days with no pathological findings on a MRI examination of the brain. The 6 month follow-up showed a normal development. When a fetal bleeding is suspected, it is important to inform a neonatologist so that correct treatment can be started as early as possible. PMID:25584580

  18. Radiation recall reaction: two case studies illustrating an uncommon phenomenon secondary to anti-cancer agents.

    PubMed

    Zhu, Su-Yu; Yuan, Yuan; Xi, Zhen

    2012-09-01

    Radiation recall phenomenon is a tissue reaction that develops throughout a previously irradiated area, precipitated by the administration of certain drugs. Radiation recall is uncommon and easily neglected by physicians; hence, this phenomenon is underreported in literature. This manuscript reports two cases of radiation recall. First, a 44-year-old man with nasopharyngeal carcinoma was treated with radiotherapy in 2010 and subsequently developed multi-site bone metastases. A few days after the docetaxel-based chemotherapy, erythema and papules manifested dermatitis, as well as swallowing pain due to pharyngeal mucositis, developed on the head and neck that strictly corresponded to the previously irradiated areas. Second, a 19-year-old man with recurrent nasal NK/T cell lymphoma initially underwent radiotherapy followed by chemotherapy after five weeks. Erythema and edema appeared only at the irradiated skin. Both cases were considered chemotherapeutic agents that incurred radiation recall reactions. Clinicians should be knowledgeable of and pay attention to such rare phenomenon. PMID:23691480

  19. D-β-aspartyl residue exhibiting uncommon high resistance to spontaneous peptide bond cleavage

    NASA Astrophysics Data System (ADS)

    Aki, Kenzo; Okamura, Emiko

    2016-02-01

    Although L-amino acids were selected as main constituents of peptides and proteins during chemical evolution, D-aspartyl (Asp) residue is found in a variety of living tissues. In particular, D-β-Asp is thought to be stable than any other Asp isomers, and this could be a reason for gradual accumulation in abnormal proteins and peptides to modify their structures and functions. It is predicted that D-β-Asp shows high resistance to biomolecular reactions. For instance, less reactivity of D-β-Asp is expected to bond cleavage, although such information has not been provided yet. In this work, the spontaneous peptide bond cleavage was compared between Asp isomers, by applying real-time solution-state NMR to eye lens αΑ-crystallin 51–60 fragment, S51LFRTVLD58SG60 and αΒ-crystallin 61–67 analog, F61D62TGLSG67 consisting of L-α- and D-β-Asp 58 and 62, respectively. Kinetic analysis showed how tough the uncommon D-β-Asp residue was against the peptide bond cleavage as compared to natural L-α-Asp. Differences in pKa and conformation between L-α- and D-β-Asp side chains were plausible factors to determine reactivity of Asp isomers. The present study, for the first time, provides a rationale to explain less reactivity of D-β-Asp to allow abnormal accumulation.

  20. FUS-ERG gene fusion in isolated myeloid sarcoma showing uncommon clinical features

    PubMed Central

    Ueda, Ryosuke; Maruyama, Dai; Nomoto, Junko; Maeshima, Akiko M.; Fukuhara, Suguru; Kitahara, Hideaki; Miyamoto, Ken-ichi; Munakata, Wataru; Suzuki, Tatsuya; Taniguchi, Hirokazu; Kobayashi, Yukio; Tobinai, Kensei

    2016-01-01

    FUS-ERG gene fusion has not been reported in cases of myeloid sarcoma (MS), a subtype of acute myeloid leukemia involving extramedullary anatomic sites. Here, we report a case of a 48-year-old man with primary isolated MS of the anterior mediastinum, who later developed multiple extramedullary recurrences without bone marrow infiltration throughout the course. G-banding analysis of the cells in pericardial effusion at recurrence showed complex karyotypic abnormalities including t(16;21)(p11.2;q22). FUS break-apart fluorescent in situ hybridization analysis showed split signals in biopsy sections at initial diagnosis and recurrence. Reverse transcriptase polymerase chain reaction and direct sequencing demonstrated the presence of the FUS-ERG chimeric gene transcript. The patient underwent cord blood transplantation, but died of pneumonia on day 64. To our knowledge, this is the first report of isolated MS carrying FUS-ERG gene fusion. In future study, relationship between the fusion gene and uncommon clinical features should be investigated in isolated MS. PMID:26770812

  1. Suprasellar Mature Cystic Teratoma: An Unusual Location for an Uncommon Tumor

    PubMed Central

    Sweiss, Raed B.; Sweiss, Fadi B.; Dalvin, Lauren; Siddiqi, Javed

    2013-01-01

    Intracranial germ cell tumors are uncommon and account for only 0.33.4% of all intracranial tumors. Teratomas are a subset of these neoplasms, and their finding in brain structures is exceptionally rare, and occurrence within the skull base is quite novel. The authors report the case of a 57-year-old male patient who presented with vision changes, incontinence, ataxia, and altered mental status of 1 week's duration. Imaging revealed a large intrasellar mass with suprasellar extension, involvement of the ventricular system, and marked hydrocephalus with the enlargement of the lateral and third ventricles. The patient underwent a pterional craniotomy/transsylvian approach for resection of the mass. Postoperative histological examination of the resected mass was confirmatory for a mature cystic teratoma. This was followed by radiotherapy, stereotactic radiosurgery, and adjuvant radiotherapy. At the most recent followup, approximately 4 years later, the patient is doing well with improved vision since the operation. This report highlights our experience with a teratoma in a very unusual location, and we review the relevant literature. PMID:24198987

  2. Uncommon formation of two antiparallel sperm bundles per cyst in tenebrionid beetles (Coleoptera)

    NASA Astrophysics Data System (ADS)

    Dias, Glenda; Yotoko, Karla S. C.; Gomes, Luiz F.; Lino-Neto, José

    2012-09-01

    Several species of Tenebrionidae are stored-grain pests. Since they belong to a specious family, the systematics of these beetles is still in doubt. In insects, spermatogenesis and the spermatozoa exhibit great diversity, and are therefore commonly used in phylogenetic and taxonomic analyses. During the spermatogenetic process in these organisms, the cells originating from a single spermatogonium develop synchronically in groups referred to as cysts. At the end of this process, there is usually only one sperm bundle per cyst, with all the cells in the same orientation. This paper details the spermiogenesis of the tenebrionid beetles Tenebrio molitor, Zophobas confusa, Tribolium castaneum and Palembus dermestoides using whole mount and histological sections of the cysts. In these species, spermatogenesis is similar to that which occurs in most insects. However, during spermiogenesis, the nuclei of the spermatids migrate to two opposite regions at the periphery of the cyst, leading to the uncommon formation of two bundles of spermatozoa per cyst. This feature is possibly an apomorphy for Tenebrionidae.

  3. Pseudoperforation: an uncommon histologic phenomenon in prurigo misleading for the diagnosis of reactive perforating collagenosis.

    PubMed

    El-Khalawany, Mohamed; Saudi, Wael; Kamel, Abeer; Fawzy, Sameh; Hassan, Hatem

    2014-12-01

    Prurigo is a common skin condition characterized by vigorous scratching. Although ulceration is not uncommon in prurigo, a perforating-like lesion was not previously reported. In this study we described series of cases of prurigo with perforating-like lesions and discussed its relation to acquired perforating dermatoses. The study included 32 cases, during the period from 2008 to 2013. Clinical data and histological features were recorded and analyzed. The study included 78.1% males and 21.9% females with a mean age of 39.3 5.61 years. History of insect bite was evident in 28.1%, hepatitis C virus infection in 46.9%, and diabetes mellitus in 9.4% of patients. Histologically, well developed lesions showed full thickness epidermal degeneration overlay by a cup-shaped crater. The contents of the crater included collagen and elastic fibers, bacterial colonies, inflammatory cells and necrotic keratin. The dermis showed non-altered collagen, increased vascularity and mixed inflammatory infiltrate. We believe that this pseudoperforation process is a secondary response to vigorous scratching in prurigo patients and not a primary mechanism as occurred in perforating dermatoses. The absence of altered collagen, the presence of full thickness epidermal necrosis and concomitant elimination of elastic fibers are significant histologic clues for differentiation between both conditions. PMID:25042386

  4. D-β-aspartyl residue exhibiting uncommon high resistance to spontaneous peptide bond cleavage

    PubMed Central

    Aki, Kenzo; Okamura, Emiko

    2016-01-01

    Although L-amino acids were selected as main constituents of peptides and proteins during chemical evolution, D-aspartyl (Asp) residue is found in a variety of living tissues. In particular, D-β-Asp is thought to be stable than any other Asp isomers, and this could be a reason for gradual accumulation in abnormal proteins and peptides to modify their structures and functions. It is predicted that D-β-Asp shows high resistance to biomolecular reactions. For instance, less reactivity of D-β-Asp is expected to bond cleavage, although such information has not been provided yet. In this work, the spontaneous peptide bond cleavage was compared between Asp isomers, by applying real-time solution-state NMR to eye lens αΑ-crystallin 51–60 fragment, S51LFRTVLD58SG60 and αΒ-crystallin 61–67 analog, F61D62TGLSG67 consisting of L-α- and D-β-Asp 58 and 62, respectively. Kinetic analysis showed how tough the uncommon D-β-Asp residue was against the peptide bond cleavage as compared to natural L-α-Asp. Differences in pKa and conformation between L-α- and D-β-Asp side chains were plausible factors to determine reactivity of Asp isomers. The present study, for the first time, provides a rationale to explain less reactivity of D-β-Asp to allow abnormal accumulation. PMID:26876027

  5. FUS-ERG gene fusion in isolated myeloid sarcoma showing uncommon clinical features.

    PubMed

    Ueda, Ryosuke; Maruyama, Dai; Nomoto, Junko; Maeshima, Akiko M; Fukuhara, Suguru; Kitahara, Hideaki; Miyamoto, Ken-Ichi; Munakata, Wataru; Suzuki, Tatsuya; Taniguchi, Hirokazu; Kobayashi, Yukio; Tobinai, Kensei

    2016-01-01

    FUS-ERG gene fusion has not been reported in cases of myeloid sarcoma (MS), a subtype of acute myeloid leukemia involving extramedullary anatomic sites. Here, we report a case of a 48-year-old man with primary isolated MS of the anterior mediastinum, who later developed multiple extramedullary recurrences without bone marrow infiltration throughout the course. G-banding analysis of the cells in pericardial effusion at recurrence showed complex karyotypic abnormalities including t(16;21)(p11.2;q22). FUS break-apart fluorescent in situ hybridization analysis showed split signals in biopsy sections at initial diagnosis and recurrence. Reverse transcriptase polymerase chain reaction and direct sequencing demonstrated the presence of the FUS-ERG chimeric gene transcript. The patient underwent cord blood transplantation, but died of pneumonia on day 64. To our knowledge, this is the first report of isolated MS carrying FUS-ERG gene fusion. In future study, relationship between the fusion gene and uncommon clinical features should be investigated in isolated MS. PMID:26770812

  6. Uncommon Teaching in Commonsense Times: A Case Study of a Critical Multicultural Educator and the Academic Success of Diverse Student Populations

    ERIC Educational Resources Information Center

    Camp, Emilie M.; Oesterreich, Heather A.

    2010-01-01

    In an effort to explore the complexity of how teachers develop and sustain the ability to teach uncommonly in commonsense times, the authors conducted a life history case study of Rae, a fifth grade teacher at a local elementary school in the Southwest United States who has practiced and sustained uncommon teaching for four years. Combining

  7. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    PubMed

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430

  8. Aphasia and neglect are uncommon in cerebellar disease: negative findings in a prospective study in acute cerebellar stroke.

    PubMed

    Frank, Benedikt; Maschke, Matthias; Groetschel, Hanjo; Berner, Maike; Schoch, Beate; Hein-Kropp, Christoph; Gizewski, Elke Ruth; Ziegler, Wolfram; Karnath, Hans-Otto; Timmann, Dagmar

    2010-12-01

    The aim of the present study was to examine if the most frequent cognitive disorders after cortical damage with a well-known cerebral lateralization, namely aphasia, neglect and extinction, are present in an unselected series of continuously admitted patients with acute cerebellar stroke. Twenty-two adults with acute cerebellar stroke were compared with 22 age- and education-matched healthy control subjects. High-resolution magnetic resonance images showed infarctions of the left cerebellar hemisphere in 12 and of the right hemisphere in ten patients. Standard aphasia tests revealed no statistically significant difference comparing patients with right- and left-sided ischemia and controls, whereas patients with left-sided ischemia showed mild deficits in a verb generation task. Neglect and extinction tasks revealed no significant differences between groups. Our findings support previous observations in the literature that cerebellar patients frequently perform within the normal range in standard neuropsychological tests. This does not exclude, however, that abnormalities may be present in more sophisticated testing of language and visuospatial functions. PMID:20680538

  9. Systemic inflammatory response due to chloroform intoxication-an uncommon complication.

    PubMed

    Dettling, A; Stadler, K; Eisenbach, C; Skopp, G; Haffner, H T

    2016-03-01

    Well-known adverse effects of chloroform are drowsiness, nausea, and liver damage. Two cases with an uncommon complication due to chloroform intoxication are presented. In the first case, a general physician, because of nausea and dyspnea, admitted a 34-year-old woman to hospital. She developed a toxic pulmonary edema requiring mechanical ventilation for a few days, and a systemic inflammatory response syndrome (SIRS) with elevated white blood cell counts, a moderate increase of C-reactive protein, and slightly elevated procalcitonin levels. There were inflammatory altered skin areas progressing to necrosis later on. However, bacteria could be detected neither in blood culture nor in urine. Traces of chloroform were determined from a blood sample, which was taken 8 h after admission. Later, the husband confessed to the police having injected her chloroform and put a kerchief soaked with chloroform over her nose and mouth. In the second case, a 50-year-old man ingested chloroform in a suicidal attempt. He was found unconscious in his house and referred to a hospital. In the following days, he developed SIRS without growth of bacteria in multiple blood cultures. He died several days after admission due to multi-organ failure. SIRS in response to chloroform is a rare but severe complication clinically mimicking bacterial-induced sepsis. The mechanisms leading to systemic inflammation after chloroform intoxication are currently unclear. Possibly, chloroform and/or its derivates may interact with pattern recognition receptors and activate the same pro-inflammatory mediators (cytokines, interleukins, prostaglandins, leukotrienes) that cause SIRS in bacterial sepsis. PMID:25676899

  10. Serious Adverse Events Are Uncommon with Combination Neonatal Antiretroviral Prophylaxis: A Retrospective Case Review

    PubMed Central

    Smith, Christiana; Forster, Jeri E.; Levin, Myron J.; Davies, Jill; Pappas, Jennifer; Kinzie, Kay; Barr, Emily; Paul, Suzanne

    2015-01-01

    Six weeks of zidovudine (ZDV) is recommended for postnatal prophylaxis of HIV-exposed infants, but combination antiretrovirals are indicated if HIV transmission risk is increased. We investigated the frequency and severity of adverse events (AE) in infants receiving multiple drug prophylaxis compared to ZDV alone. In this retrospective review of 148 HIV-exposed uninfected infants born between 19972009, we determined clinical and laboratory AE that occurred between days of life 842. Thirty-six infants received combination prophylaxis; among those, a three-drug regimen containing ZDV, lamivudine, and nevirapine was most common (53%). Rates of laboratory AE grade ?1 were as follows for the combination prophylaxis and ZDV alone groups, respectively: neutropenia 55% and 39%; anemia 50% and 39%; thrombocytopenia 0 and 3%; elevated aspartate aminotransferase 3% and 3%; elevated alanine aminotransferase 0 and 1%; hyperbilirubinemia 19% and 42%. Anemia occurred more frequently in infants who received three-drug prophylaxis compared to infants who received ZDV alone (63% vs. 39%, p = 0.04); all anemia AE were grade 1 or 2 in the three-drug prophylaxis group. Overall, 75% of infants on combination prophylaxis and 66% of infants on ZDV alone developed grade ?1 AE (p = 0.32), and 17% of infants in either group developed grade ?3 AE. Stavudine was substituted for ZDV in 23 infants due to anemia or neutropenia. After this antiretroviral change, 50% of evaluable infants demonstrated improvement in AE grade, and 25% had no change. In conclusion, low grade anemia, neutropenia, and hyperbilirubinemia occurred frequently regardless of the prophylactic regimen, but serious AE were uncommon. Although most AE were typical of ZDV toxicity, the combination of ZDV with lamivudine and nevirapine resulted in an increased frequency of low-grade anemia. Further studies are needed to identify prophylactic regimens with less toxicity for infants born to HIV-infected mothers. PMID:26000984

  11. Positioning patients for spine surgery: Avoiding uncommon position-related complications

    PubMed Central

    Kamel, Ihab; Barnette, Rodger

    2014-01-01

    Positioning patients for spine surgery is pivotal for optimal operating conditions and operative-site exposure. During spine surgery, patients are placed in positions that are not physiologic and may lead to complications. Perioperative peripheral nerve injury (PPNI) and postoperative visual loss (POVL) are rare complications related to patient positioning during spine surgery that result in significant patient disability and functional loss. PPNI is usually due to stretch or compression of the peripheral nerve. PPNI may present as a brachial plexus injury or as an isolated injury of single nerve, most commonly the ulnar nerve. Understanding the etiology, mechanism and pattern of injury with each type of nerve injury is important for the prevention of PPNI. Intraoperative neuromonitoring has been used to detect peripheral nerve conduction abnormalities indicating peripheral nerve stress under general anesthesia and to guide modification of the upper extremity position to prevent PPNI. POVL usually results in permanent visual loss. Most cases are associated with prolonged spine procedures in the prone position under general anesthesia. The most common causes of POVL after spine surgery are ischemic optic neuropathy and central retinal artery occlusion. Posterior ischemic optic neuropathy is the most common cause of POVL after spine surgery. It is important for spine surgeons to be aware of POVL and to participate in safe, collaborative perioperative care of spine patients. Proper education of perioperative staff, combined with clear communication and collaboration while positioning patients in the operating room is the best and safest approach. The prevention of uncommon complications of spine surgery depends primarily on identifying high-risk patients, proper positioning and optimal intraoperative management of physiological parameters. Modification of risk factors extrinsic to the patient may help reduce the incidence of PPNI and POVL. PMID:25232519

  12. Ten uncommon and unusual variants of renal angiomyolipoma (AML): radiologic-pathologic correlation.

    PubMed

    Schieda, N; Kielar, A Z; Al Dandan, O; McInnes, M D F; Flood, T A

    2015-02-01

    Classic (triphasic) renal angiomyolipoma (AML) is currently classified as a neoplasm of perivascular epithelioid cells. For diagnosis of AML, the use of thin-section non-contrast enhanced CT (NECT) improves diagnostic accuracy; however, identifying gross fat within a very small AML is challenging and often better performed with chemical-shift MRI. Although the presence of gross intra-tumoural fat is essentially diagnostic of AML; co-existing intra-tumoural fat and calcification may represent renal cell carcinoma (RCC). Differentiating AML from retroperitoneal sarcoma can be difficult when AML is large; the feeding vessel and claw signs are suggestive imaging findings. AML can haemorrhage, with intra-tumoural aneurysm size >5mm a more specific predictor of future haemorrhage than tumor size >4cm. Diagnosis of AML in the setting of acute haemorrhage is complex; comparison studies or follow-up imaging may be required. Not all AML contain gross fat and imaging features of AML without visible fat overlap with RCC; however, homogeneity, hyperdensity at NECT, low T2-weighted signal intensity and, microscopic fat are suggestive features. Patients with tuberous sclerosis often demonstrate a combination of classic and minimal fat AML, but are also at a slightly increased risk for RCC and should be imaged cautiously. Several rare pathological variants of AML exist including AML with epithelial cysts and epithelioid AML, which have distinct imaging characteristics. Classic AML, although benign, can be locally invasive and the rare epithelioid AML can be frankly malignant. The purpose of this review is to highlight the imaging manifestations of 10 uncommon and unusual variants of AML using pathological correlation. PMID:25468637

  13. The archaeology of uncommon interventions: Articulating the rationale for transcatheter closure of congenital coronary artery fistulas in asymptomatic children.

    PubMed

    McElhinney, Doff B

    2016-02-15

    Transcatheter closure of coronary artery fistulas can be executed successfully in infants and children with few serious procedural complications. Indications for and long-term outcomes of closure of coronary artery fistulas remain poorly defined. Registries may offer the best opportunity for advancing our knowledge about uncommon interventions such as coil or device closure of coronary artery fistulas, but to do so, they must include sufficient data and evaluate factors potentially associated with salutary or adverse outcome. PMID:26919340

  14. A Pilot Study of Women’s Affective Responses to Common and Uncommon Forms of Aerobic Exercise

    PubMed Central

    Stevens, Courtney J.; Smith, Jane Ellen; Bryan, Angela D.

    2015-01-01

    Objective To test the extent to which participants exposed to an uncommon versus common exercise stimulus would result in more favourable affect at post task. Design Experimental design. Participants, (N = 120) American women aged 18–45 years, were randomly assigned to complete 30-minutes of either the uncommon (HOOP; n = 58) or common (WALK; n = 62) exercise stimulus. Main Outcome Measures Self-reported affect and intentions for future exercise were measured before and after the 30-minute exercise bout. Results Analyses of covariance (ANCOVA) were run to compare post-task affect across the HOOP and WALK conditions. At post-task, participants assigned to HOOP reported more positively valenced affect, higher ratings of positive activated affect, lower ratings of negative deactivated affect, and stronger intentions for future aerobic exercise compared to participants assigned to WALK. Conclusions Participants who completed an uncommon bout of aerobic exercise (HOOP) reported more favourable affect post-exercise, as well as stronger intentions for future exercise, compared to participants who completed a common bout of aerobic exercise (WALK). Future work using a longitudinal design is needed to understand the relationships between familiarity with an exercise stimulus, affective responses to exercise, motivation for future exercise behaviour, and exercise maintenance over time. PMID:26394246

  15. Enteropathy Associated T Cell Lymphoma A Case Report of An Uncommon Extranodal T Cell Lymphoma

    PubMed Central

    V, Geetha; Kudva, Ranjini

    2014-01-01

    Enteropathy associated T cell lymphoma is a rare primary intestinal lymphoma. It is often, but not always associated with celiac disease. Intraepithelial T cells are postulated as the cell of origin. It is a rare disease accounting for fewer than 5% of all gastrointestinal tract lymphomas. Recent studies indicate that EATL consists of two diseases that are morphologically and genetically distinct and differ with respect to their frequency of association with celiac disease. Current WHO classification recognises two subtypes of EATL type 1 (classic) and type 2, based on morphology and immunophenotype. EATL type 1 is a large cell lymphoma which is more common and is more commonly associated with celiac disease compared to type 2. Most common site of involvement is the small intestine. We report a case of EATL type 1, in a 62-year-old female patient who presented with features of intestinal obstruction. However, she did not have spruce like featutes. PMID:25478355

  16. The surgical treatment of gastroduodenal Crohn's disease.

    PubMed Central

    Shepherd, A. F.; Allan, R. N.; Dykes, P. W.; Keighley, M. R.; Alexander-Williams, J.

    1985-01-01

    Crohn's disease can affect any part of the gastrointestinal tract. Gastroduodenal involvement is uncommon and was not recognised until 1949 (1). Since then approximately 200 cases have been described in several series in the world literature. This paper describes the clinical presentation and surgical management of ten patients treated in the Birmingham General Hospital between 1970 and 1984. PMID:4073768

  17. Microvillous inclusion disease diagnosed by gastric biopsy.

    PubMed

    Thomas, Niranjan; Pulimood, Anna Benjamin; Kumar, Manish; Jana, Atanu Kumar

    2012-01-01

    Protracted diarrhea in neonates is uncommon and usually requires an intestinal biopsy for etiological diagnosis. Gastric biopsy has not been used in the routine diagnosis of this condition. We report the first documented patient with microvillous inclusion disease from India, where the diagnosis was established by a gastric biopsy. PMID:22318102

  18. Use of fludarabine in the treatment of mantle cell lymphoma, Waldenstrm's macroglobulinemia and other uncommon B- and T-cell lymphoid malignancies.

    PubMed

    Johnson, Stephen A

    2004-01-01

    After initial efforts using fludarabine as a single agent in the treatment of acute leukemia, its activity at lower and safer doses was demonstrated in chronic lymphocytic leukemia (CLL) patients who were refractory or had relapsed from traditional chemotherapies, representing a highly effective therapy for this condition. Fludarabine was also rapidly shown to be beneficial as first-line therapy in CLL. There is now considerable evidence that fludarabine is an effective agent in non-Hodgkin's lymphoma and in combination therapy for acute myeloid leukemia. Further, good responses are achieved when fludarabine-based approaches are used as conditioning regimens prior to transplantation procedures. The actions of fludarabine are not restricted to these settings and its potential role in the treatment of a range of uncommon T- and B-cell lymphoid malignancies is slowly emerging. This review will focus on the characteristics and treatment options for two B-cell disorders, mantle cell lymphoma and Waldenstrm's macroglobulinemia, with emphasis on the clinical activity of fludarabine. Additionally, the advantages of using fludarabine-containing regimens for a range of other lymphoproliferative conditions will also be discussed. These include B-cell neoplasms such as the CLL variant prolymphocytic leukemia, hairy cell leukemia and mucosa-associated lymphoid tissue-derived lymphomas; the T-cell disorders cutaneous T-cell lymphoma, angioimmunoblastic lymphadenopathy and other rarer T-cell diseases; and aggressive variants of non-Hodgkin's lymphoma including Richter's syndrome. PMID:15079153

  19. Ocular metastasis of colorectal cancer: An uncommon presentation of a common malignancy.

    PubMed

    Khawaja, Muhammad Rizwan; Minturn, John T; Spittler, A John; Chiorean, E Gabriela

    2015-12-01

    Approximately 20% of patients with colorectal cancer have metastatic disease at time of diagnosis, and another 25-35% develop metastases during the course of their disease. Liver, peritoneum, and lungs are the most common sites of metastases. We report the case of a 60-year-old female who presented with ocular metastasis 4years after her initial curative-intent treatment for T3N1M0 rectal adenocarcinoma. After local eye radiation therapy, she received palliative systemic chemotherapy and enjoyed a good quality of life for 32months before succumbing to progressive disease. Ocular metastasis of colorectal cancer is rare. When present, it usually occurs in the setting of diffuse hematogenous spread. In addition to local therapy, systemic chemotherapy should also be considered. PMID:25784129

  20. [Uncommon cutaneous ulcerative and systemic sarcoidosis. Successful treatment with hydroxychloroquine and compression therapy].

    PubMed

    Meyersburg, D; Schn, M P; Bertsch, H P; Seitz, C S

    2011-09-01

    Sarcoidosis is a granulomatous multisystemic disease of unclear etiology, which can affect any organ. The cutaneous manifestations are variable, but ulcerative cutaneous sarcoidosis is very rare. One must rule out other granulomatous skin diseases, especially necrobiosis lipoidica. There is no standarized therapy; usually an interdisciplinary approach over years taking multiple side effects into consideration is needed. A 58-year-old woman with a long history of cutaneous, nodal and pulmonary sarcoidosis suddenly developed ulcerations within the disseminated skin lesions on her legs. The combination of systemic hydroxychloroquine and modern wound management lead to complete healing of the ulcers and a significant improvement in the remaining skin lesions. PMID:21656110

  1. Extensive dural sinus thrombosis and bilateral lateral rectus palsy as an uncommon complication of chronic suppurative otitis media

    PubMed Central

    Balasubramanian, Anusha; Mohamad, Irfan; Sidek, Dinsuhaimi

    2013-01-01

    Dural venous sinus thrombosis, especially of the sigmoid sinus, is a known but uncommon intracranial extradural complication of chronic suppurative otitis media. Even rarer is the simultaneous occurrence of bilateral abducens palsy in the same patient. We report the case of an adolescent male who presented with signs of raised intracranial pressure, diplopia and bilateral lateral rectus palsy associated with a history of left ear discharge and neck swelling. Extensive dural sinus thrombosis extending right up to the left internal jugular vein was confirmed on CT imaging. The patient was successfully treated with thrombolytic agents and antibiotic therapy. The pathophysiology of the concurrent complications is discussed. PMID:23355565

  2. Bilateral retiform variant of sertoli leydig cell tumour of ovary: An uncommon tumor with review of literature

    PubMed Central

    Rathi, Monika; Budania, Satish Kumar; Khalid, Mohammad; Mittal, Ankur

    2015-01-01

    Sertoli-leydig cell tumors are the uncommon sex-cord stromal tumors of the ovary. We report a case of 42-year-old female with retiform variant of sertoli-leydig cell tumour. She presented with the complaint of mass in abdomen for 7 years. Ultrasound revealed bilateral ovarian mass suggestive of malignancy. Bilateral salpingo-oopherectomy with surgical staging was done. The tumor was diagnosed as stage I retiform variant of sertoli-leydig cell tumor on histopathology and immunohistochemistry. PMID:25861207

  3. Lesson of the month 1: Artery of Percheron occlusion - an -uncommon cause of coma in a middle-aged man.

    PubMed

    Bailey, James; Khadjooi, Kayvan

    2016-02-01

    Bilateral paramedian thalamic infarction resulting from artery of Percheron occlusion presents with a distinct clinical syndrome comprising impaired consciousness, often with vertical gaze palsy and memory impairment. This uncommon anatomical variant arises as a single artery supplying both paramedian thalami. Early recognition can be challenging in the obtunded patient, where the differential diagnosis is broad. The acute physician should consider this diagnosis in a patient presenting with unexplained coma so that emergent treatments such as thrombolysis can be employed. Early imaging with computerised tomography can often be normal; therefore the use of magnetic resonance imaging is essential in confirming the diagnosis. PMID:26833525

  4. Vocal Hoarseness and a Subglottic Mass: An Uncommon Diagnosis for a Common Complaint.

    PubMed

    Rafizadeh, Sassan; Yoneda, Ken; Zeki, Amir A

    2015-01-01

    We report a patient with tracheopathia osteoplastica (TPO), a rare or perhaps underrecognized disorder, detected in approximately 1 in every 2000 to 5000 patients who undergo bronchoscopy. TPO is marked by proliferation of bony and cartilaginous spurs leading to airway stenosis. Multiple submucosal cartilaginous and osseous nodules can develop in the respiratory tract and may involve the entire trachea and mainstem bronchi. Symptoms may range from a completely silent condition to life-threatening respiratory failure and diagnosis is made based on radiological and bronchoscopic findings. Although the etiology has not been established, TPO can be familial and is sometimes associated with chronic inflammation, such as seen with rheumatic diseases. This case highlights the need for understanding TPO so that it can be differentiated from potentially serious conditions such as necrotizing granulomatous diseases, invasive infections, and cancer. PMID:26425643

  5. Headache in a Patient with Complex Congenital Heart Disease: Diagnostic and Therapeutic Considerations.

    PubMed

    Ahmad, Waheed; Miteff, Ferdi; Collins, Nicholas

    2015-11-01

    Headache in adult patients with congenital heart disease may be a manifestation of the underlying cardiac condition or more common alternative causes of headache. In patients with pre-existing congenital heart disease, consideration of potentially uncommon aetiologies of headache is important. We report an uncommon case of headache in a patient with complex congenital heart disease characterised by Ebstein's anomaly with previous surgical repair complicated by idiopathic intracranial hypertension. This case illustrates the importance of understanding the implications of headache with reference to the underlying cardiac disease as well as specific issues related to a relatively young cohort of patients. PMID:26251315

  6. An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Final report

    SciTech Connect

    Watson, R.

    1995-07-01

    Waterflooding is the most commonly used secondary oil recovery technique. One of the requirements for understanding waterflood performance is a good knowledge of the basic properties of the reservoir rocks. This study is aimed at correlating rock-pore characteristics to oil recovery from various reservoir rock types and incorporating these properties into empirical models for Predicting oil recovery. For that reason, this report deals with the analyses and interpretation of experimental data collected from core floods and correlated against measurements of absolute permeability, porosity. wettability index, mercury porosimetry properties and irreducible water saturation. The results of the radial-core the radial-core and linear-core flow investigations and the other associated experimental analyses are presented and incorporated into empirical models to improve the predictions of oil recovery resulting from waterflooding, for sandstone and limestone reservoirs. For the radial-core case, the standardized regression model selected, based on a subset of the variables, predicted oil recovery by waterflooding with a standard deviation of 7%. For the linear-core case, separate models are developed using common, uncommon and combination of both types of rock properties. It was observed that residual oil saturation and oil recovery are better predicted with the inclusion of both common and uncommon rock/fluid properties into the predictive models.

  7. Oral Myiasis Affecting Gingiva in a Child Patient: An Uncommon Case Report.

    PubMed

    Ali, Fareedi Mukram; Patil, Kishor; Kar, Sanjay; Patil, Atulkumar A; Ahamed, Shabeer

    2016-01-01

    Certain dipteran flies larvae causing invasion of the tissues and organs of the humans or other vertebrates are called as myiasis, which feed on hosts dead or living tissues. It is well documented in the skin and hot climate regions; underdeveloped countries are affected more commonly. Oral cavity is affected rarely and it can be secondary to serious medical conditions. Poor oral hygiene, alcoholism, senility, or suppurating lesions can be associated with the oral myiasis. Inflammatory and allergic reactions are the commonest clinical manifestations of the disease. In the present case, gingiva of maxillary anterior region was affected by larval infection in a 13-year-old mentally retarded patient. PMID:26881145

  8. Uncommon Primary Synovial Chondromatosis Involving Only the Infrapatellar Fat Pad in an Elderly Patient

    PubMed Central

    Jeong, Tae-Wan

    2016-01-01

    Primary synovial chondromatosis is a rare condition of idiopathic synovial chondrometaplasia and usually occurs during the third to fifth decades of life. Conversely, secondary synovial chondromatosis results from the growth of separated particles from articular cartilage or osteophytes in patients with joint diseases, such as degenerative osteoarthritis, and occurs mostly in elderly people. We describe here a 76-year-old male histopathologically confirmed as having primary synovial chondromatosis with no calcification of the infrapatellar fat pad (IFP) of the knee joint. To our knowledge, this is the first description of primary synovial chondromatosis of the knee joint confined to the IFP in a patient >60 years old.

  9. Spontaneous Iliopsoas Tendon Rupture: An Uncommon Cause of Hip Pain in Elderly Patients.

    PubMed

    Emam, Mohammed; Farmakidis, Constantine; Lee, Se Won; Wainapel, Stanley F

    2016-01-01

    Iliopsoas tendon rupture is a relatively rare cause of hip pain. It has been described in children, in adults with pathologic avulsion secondary to metastatic disease, and in older individuals with multiple chronic illnesses. We are reporting a case of apparently spontaneous iliopsoas tendon rupture that occurred in an elderly patient presenting with severe debilitating hip pain whose etiology initially was unrecognized. Magnetic resonance imaging of the hip confirmed the diagnosis. This case highlights the importance of considering iliopsoas tear in the differential diagnosis of unexplained acute onset hip pain and illustrates that geriatric patients with this condition can be treated conservatively with satisfactory functional outcome. PMID:26226208

  10. Oral Myiasis Affecting Gingiva in a Child Patient: An Uncommon Case Report

    PubMed Central

    Ali, Fareedi Mukram; Patil, Kishor; Kar, Sanjay; Patil, Atulkumar A.; Ahamed, Shabeer

    2016-01-01

    Certain dipteran flies larvae causing invasion of the tissues and organs of the humans or other vertebrates are called as myiasis, which feed on hosts dead or living tissues. It is well documented in the skin and hot climate regions; underdeveloped countries are affected more commonly. Oral cavity is affected rarely and it can be secondary to serious medical conditions. Poor oral hygiene, alcoholism, senility, or suppurating lesions can be associated with the oral myiasis. Inflammatory and allergic reactions are the commonest clinical manifestations of the disease. In the present case, gingiva of maxillary anterior region was affected by larval infection in a 13-year-old mentally retarded patient. PMID:26881145

  11. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.

    PubMed

    Jia, Dandan; Tang, Beisha; Chen, Zhao; Shi, Yuting; Sun, Zhanfang; Zhang, Li; Wang, Junling; Xia, Kun; Jiang, Hong

    2012-10-01

    Autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Nearly 33 genetically distinct subtypes have been defined, and 19 seemingly unrelated disease genes have been identified so far. Recently, mutations in the ATPase family gene 3-like 2 (AFG3L2) gene were presented to cause SCA28 subtype. In order to define the frequency of SCA28 mutation in Chinese mainland, we performed molecular genetic analysis in 67 unrelated affected individuals with ADCA. At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland. PMID:22563911

  12. MALDI-TOF: a useful tool for laboratory identification of uncommon glucose non-fermenting Gram-negative bacteria associated with cystic fibrosis.

    PubMed

    Homem de Mello de Souza, Helena Aguilar Peres; Dalla-Costa, Libera Maria; Vicenzi, Fernando Jos; Camargo de Souza, Dilair; Riedi, Carlos Antnio; Filho, Nelson Augusto Rosario; Pilonetto, Marcelo

    2014-09-01

    The predisposition of patients with cystic fibrosis (CF) for recurrent pulmonary infections can result in poor prognosis of the disease. Although the clinical significance in CF of micro-organisms, such as Staphylococcus aureus, Haemophilus influenzae and Pseudomonas aeruginosa, is well established, the implication of uncommon glucose non-fermenting Gram-negative bacilli (UGNF-GNB) in respiratory samples from CF patients is still unclear. Because of limitations of traditional methods used in most clinical laboratories, the accurate identification of these microbes is a challenge. Matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) is an alternative tool for efficient identification of bacteria. This was a retrospective study to evaluate different identification methods in a collection of UGNF-GNB isolated from children with CF during a period of three years. The performance of MALDI-TOF was compared to that of 16S rDNA gene sequencing and to a conventional and automated phenotypic identification. The discriminatory power of MALDI-TOF (75.0?% agreement) was superior to automated techniques (67.1?% agreement) and to conventional phenotypical identification (50.0?% agreement). MALDI-TOF also demonstrated high accuracy in identifying Stenotrophomonas maltophilia, Achromobacter xylosoxidans and Chryseobacterium indologenes, but had limited utility in identifying Pandoraea spp. and some species of Acinetobacter and Chryseobacterium (other than C. indologenes). Although MALDI-TOF identified only 75?% of the isolates in comparison with 16S rDNA gene sequencing, the prompt identification and high discriminatory power exhibited by MALDI-TOF make it a useful tool for the characterization of micro-organisms that are difficult to identify using routine methods. PMID:24980571

  13. The Iron Hill (Powderhorn) Carbonatite Complex, Gunnison County, Colorado - A Potential Source of Several Uncommon Mineral Resources

    USGS Publications Warehouse

    Van Gosen, Bradley S.

    2009-01-01

    A similar version of this slide show was presented on three occasions during 2008: two times to local chapters of the Society for Mining, Metallurgy, and Exploration (SME), as part of SME's Henry Krumb lecture series, and the third time at the Northwest Mining Association's 114th Annual Meeting, held December 1-5, 2008, in Sparks (Reno), Nevada. In 2006, the U.S. Geological Survey (USGS) initiated a study of the diverse and uncommon mineral resources associated with carbonatites and associated alkaline igneous rocks. Most of these deposit types have not been studied by the USGS during the last 25 years, and many of these mineral resources have important applications in modern technology. The author chose to begin this study at Iron Hill in southwestern Colorado because it is the site of a classic carbonatite complex, which is thought to host the largest known resources of titanium and niobium in the United States.

  14. 3-Methyl-2-butene-1-thiol: identification, analysis, occurrence and sensory role of an uncommon thiol in wine.

    PubMed

    San-Juan, Felipe; Cacho, Juan; Ferreira, Vicente; Escudero, Ana

    2012-09-15

    A highly uncommon odorant, 3-methyl-2-butene-1-thiol was detected by using Gas Chromatography-Olfactometry (GC-O) and unequivocally identified for the first time in wine. A purge and trap sampling technique which provides highly representative extracts for olfactometric analysis was used for the extraction of the volatile fraction of a Spanish red wine made from Prieto Picudo grapes. The identification of the odorant was achieved by multidimensional gas chromatography analysis of the same purge and trap extract. Mass spectrum and retention indices in both polar and non-polar columns allowed knowing unequivocally the identity. To obtain quantitative data a method was validated for the analysis of the compound at ng L(-1) level with acceptable precision. This powerful odorant presented an odor threshold in wine of 0.5-1 ng L(-1) and it has been detected in several Prieto Picudo wines at concentrations slightly above the odor threshold. PMID:22967545

  15. Cardiomyopathy associated with celiac disease in childhood.

    PubMed

    Boskovic, Aleksandra; Kitic, Ivana; Prokic, Dragan; Stankovic, Ivica

    2012-01-01

    Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy. PMID:23094165

  16. Cardiomyopathy Associated with Celiac Disease in Childhood

    PubMed Central

    Boskovic, Aleksandra; Kitic, Ivana; Prokic, Dragan; Stankovic, Ivica

    2012-01-01

    Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy. PMID:23094165

  17. A Pseudo MS3 Approach for Identification of Disulfide-Bonded Proteins: Uncommon Product Ions and Database Search

    NASA Astrophysics Data System (ADS)

    Chen, Jianzhong; Shiyanov, Pavel; Schlager, John J.; Green, Kari B.

    2012-02-01

    It has previously been reported that disulfide and backbone bonds of native intact proteins can be concurrently cleaved using electrospray ionization (ESI) and collision-induced dissociation (CID) tandem mass spectrometry (MS/MS). However, the cleavages of disulfide bonds result in different cysteine modifications in product ions, making it difficult to identify the disulfide-bonded proteins via database search. To solve this identification problem, we have developed a pseudo MS3 approach by combining nozzle-skimmer dissociation (NSD) and CID on a quadrupole time-of-flight (Q-TOF) mass spectrometer using chicken lysozyme as a model. Although many of the product ions were similar to those typically seen in MS/MS spectra of enzymatically derived peptides, additional uncommon product ions were detected including ci-1 ions (the ith residue being aspartic acid, arginine, lysine and dehydroalanine) as well as those from a scrambled sequence. The formation of these uncommon types of product ions, likely caused by the lack of mobile protons, were proposed to involve bond rearrangements via a six-membered ring transition state and/or salt bridge(s). A search of 20 pseudo MS3 spectra against the Gallus gallus (chicken) database using Batch-Tag, a program originally designed for bottom up MS/MS analysis, identified chicken lysozyme as the only hit with the expectation values less than 0.02 for 12 of the spectra. The pseudo MS3 approach may help to identify disulfide-bonded proteins and determine the associated post-translational modifications (PTMs); the confidence in the identification may be improved by incorporating the fragmentation characteristics into currently available search programs.

  18. A case of zosteriform Darier's disease with seasonal recurrence.

    PubMed

    Gupta, Lalit K; Garg, Anubhav; Khare, Ashok Kumar; Mittal, Asit

    2013-07-01

    Darier's disease is an uncommon genodermatosis characterized by keratotic papules in seborrheic distribution. The disease can rarely present in unilateral zosteriform pattern, as a mosaic form following the Blaschko's line. We present a 35-year-old woman with zosteriform pattern of Darier's disease over right infra mammary region. The lesions occurred strictly during summers. Histologically, suprabasal acantholysis with abundant dyskeratotic cells were seen. PMID:23984240

  19. Cutaneous myeloid sarcoma: natural history and biology of an uncommon manifestation of acute myeloid leukemia.

    PubMed

    Hurley, M Yadira; Ghahramani, Grant K; Frisch, Stephanie; Armbrecht, Eric S; Lind, Anne C; Nguyen, Tudung T; Hassan, Anjum; Kreisel, Friederike H; Frater, John L

    2013-05-01

    We conducted a retrospective study of patients with cutaneous myeloid sarcoma, from 2 tertiary care institutions. Eighty-three patients presented, with a mean age of 52 years. Diagnosis of myeloid sarcoma in the skin was difficult due to the low frequency of myeloperoxidase and/or CD34+ cases (56% and 19% of tested cases, respectively). Seventy-one of the 83 patients (86%) had ??1 bone marrow biopsy. Twenty-eight (39%) had acute myeloid leukemia with monocytic differentiation. Twenty-three had other de novo acute myeloid leukemia subtypes. Thirteen patients had other myeloid neoplasms, of which 4 ultimately progressed to an acute myeloid leukemia. Seven had no bone marrow malignancy. Ninety-eight percent of the patients received chemotherapy, and approximately 89% died of causes related to their disease. Cutaneous myeloid sarcoma in most cases represents an aggressive manifestation of acute myeloid leukemia. Diagnosis can be challenging due to lack of myeloblast-associated antigen expression in many cases, and difficulty in distinguishing monocyte-lineage blasts from neoplastic and non-neoplastic mature monocytes. PMID:23165700

  20. Parathyroid carcinoma and oxyphil parathyroid adenoma: an uncommon case of misinterpretation in clinical practice.

    PubMed

    Dytz, Mrcio Garrison; Souza, Rodrigo Gomes; Lzaro, Ana Paula Pires; Gonalves, Manuel Domingos da Cruz; Vidal, Ana Paula Aguiar; dos Santos Teixeira, Patrcia de Ftima; Fleiuss Farias, Maria Lucia

    2013-01-01

    A 46 year-old male presented with persistently high level of serum parathyroid hormone (PTH), despite successful resection of an oxyphilic cell parathyroid adenoma of the left lower gland. Renal function and serum calcium were normal, leading to vitamin D deficiency being considered. Tc99m-sestamibi parathyroid scintigraphy showed no capitation, but a cervical ultrasound demonstrated an increase in the lower parathyroids. Surgery confirmed that the right gland was normal but the left corresponded to parathyroid carcinoma. The patient developed severe hypocalcemia, with PTH values being consistent with hypoparathyroidism for a few months. However, a progressive increase in calcium and PTH serum levels indicated recurrence of disease. Tc99m-sestamibi scintigraphy demonstrated hyperfixation in topography of the left inferior parathyroid and the patient was subjected to a third and more extensive surgery, with removal of lymph nodes and adjacent thyroid tissue. Serum calcium and PTH remained elevated, requiring loop diuretics and intravenous bisphosphonates to control hypercalcemia. Cervical radiotherapy was implemented as adjuvant therapy. After two months the patient complained of dyspnea, and a CT scan of the chest demonstrated areas of parenchymal condensation, suggestive of actinic pneumonitis. At the 2-year follow-up no major issues were evident. PMID:23268928

  1. Subserous lymphangioma of the sigmoid colon: an uncommon cause of acute abdomen in pediatric patients

    PubMed Central

    Fernandes, Bianca Furlan; Moraes, Érika Neves de Souza; de Oliveira, Francini Rossetto; Felipe-Silva, Aloísio; Ferreira, Cristiane Rúbia; de Alcântara, Paulo Sérgio Martins; Tokeshi, Flavio; Martinês, João Augusto dos Santos; Ferronato, Ângela Espósito

    2015-01-01

    Lymphangioma is a rare, benign lesion derived from a malformation of the lymphatic system, which is more frequently found in the head, neck, and axilla. However, it may be present anywhere in the body, and the diagnosis involves adults as children with some distinct clinical features among them. In pediatric patients, abdominal cystic lymphangioma occurs mostly in the mesentery presenting abdominal pain, intestinal obstruction, or, more rarely, hemorrhage. The authors report the case of a child with a short-course history of fever, abdominal pain, and constipation. The physical examination disclosed the presence of an abdominal mass and signs of peritoneal irritation. Imaging was consistent with a cystic lesion compressing the sigmoid colon and laterally displacing the remaining loops. Exploratory laparotomy was undertaken, and a sigmoidectomy, followed by Hartman’s colostomy, was performed. Histological examination revealed the nature of the lesion as a cystic lymphangioma. The authors highlight the clinical features of this entity and call attention to this disease in the differential diagnosis of acute abdomen or abdominal pain, mainly in pediatric patients. PMID:26894047

  2. Idiopathic Splenic Artery Pseudoaneurysm Rupture as an Uncommon Cause of Hemorrhagic Shock

    PubMed Central

    Schatz, Richard A.; Schabel, Stephen

    2015-01-01

    Splenic artery pseudoaneurysms are infrequently encountered but critical to recognize. Limited literature to date describes associations with pancreatitis, trauma, and rarely peptic ulcer disease. Hemorrhage and abdominal pain are the most common manifestations. There is typically overt gastrointestinal blood loss but bleeding can also extend into the peritoneum, retroperitoneum, adjacent organs, or even a pseudocyst. Most patients with ruptured splenic artery pseudoaneurysms present with hemodynamic instability. Here, we describe a patient recovering from acute illness in the intensive care unit but with otherwise no obvious risk factors or precipitants for visceral pseudoaneurysm. He presented with acute onset altered mental status, nausea, and worsening back and abdominal pain and was found to be in hypovolemic shock. The patient was urgently stabilized until more detailed imaging could be performed, which ultimately revealed the source of blood loss and explained his rapid decompensation. He was successfully treated with arterial coiling and embolization. Thus, we herein emphasize the importance of prompt recognition of hemorrhagic shock and of aggressive hemodynamic stabilization, as well as a focused diagnostic approach to this problem with specific treatment for splenic artery pseudoaneurysm. Finally, we recommend that multidisciplinary management should be the standard approach in all patients with splenic artery pseudoaneurysm. PMID:26425639

  3. Ovarian seromucinous carcinoma: report of a series of a newly categorized and uncommon neoplasm.

    PubMed

    Taylor, Jennifer; McCluggage, W Glenn

    2015-07-01

    Seromucinous neoplasms are a new category of ovarian epithelial tumor in the revised World Health Organization Classification of Tumours of the Female Reproductive Organs. Borderline variants are well described, but there have been few reports of seromucinous carcinomas. We report the clinicopathologic features in 19 cases of ovarian seromucinous carcinoma in patients aged 16 to 79 years (mean 47). In 16 cases, the neoplasm was unilateral and in 3 cases bilateral. The tumors ranged in size from 1.8 to 18 cm (mean 10.5 cm). The tumors were stage I (n=15), stage II (n=1), and stage III (n=3). The histologic features were highly variable both within and between individual tumors. The majority of neoplasms (12 cases) exhibited a predominant papillary architecture with lesser components of glandular, microglandular, and solid growth. A predominant glandular architecture was present in 6 cases, whereas 1 had a predominantly solid growth. A characteristic feature was an admixture of cell types. Most of the tumors (15 cases) were mainly composed of endocervical-like mucinous cells, whereas in 4 cases there was predominant endometrioid differentiation. Other cell types, present in varying proportions, included hobnail cells, eosinophilic cells, squamous cells, clear cells, and signet-ring cells. An infiltrate of neutrophil polymorphs was a prominent feature in most cases. Most cases also exhibited areas of microglandular architecture with cytoplasmic clearing and intraluminal polymorphs, the features closely resembling cervical microglandular hyperplasia. Areas of stromal hyalinization, adenofibromatous growth, and psammoma bodies were present in a minority of cases. Endometriosis was identified in the same ovary in 10 cases, and in 10 there was a component of seromucinous borderline tumor. Thirteen, 5, and 1 tumor were of grades 1, 2, and 3, respectively (using the FIGO grading system for endometrioid adenocarcinomas of the uterine corpus). A synchronous uterine endometrioid adenocarcinoma was present in 1 case. Immunohistochemically, there was positive staining with CK7 (17/17 cases), estrogen receptor (16/16 cases), progesterone receptor (6/7 cases), CA125 (15/15 cases), PAX8 (8/8 cases), CEA (8/13 cases), CA19.9 (8/9 cases), and WT1 (2/13 cases). CK20 and CDX2 were negative in all cases tested (16 and 14, respectively). p53 showed "wild-type" staining in 4/4 cases, and p16 was focally positive in 5/5 cases. Follow-up information was available in 8 patients. Seven were alive with no evidence of disease (follow-up 3 to 74 mo), whereas 1 patient who initially presented with a stage IIB tumor died of disease at 192 months. Given the characteristic admixture of cell types and the overlapping morphologic features with low-grade serous, mucinous, and endometrioid neoplasms, the most appropriate categorization of seromucinous carcinomas is uncertain, but we believe they are best regarded as a distinct type of ovarian epithelial malignancy and are most similar to endometrioid adenocarcinomas. We recommend grading them in an analogous manner to ovarian endometrioid adenocarcinomas. PMID:25723110

  4. Paraneoplastic limbic encephalitis, an uncommon presentation of a common cancer: Case report and discussion

    PubMed Central

    Said, Sarmad; Cooper, Chad J.; Reyna, Edgar; Alkhateeb, Haider; Diaz, Jesus; Nahleh, Zeina

    2013-01-01

    Patient: Female, 59 Final Diagnosis: Paraneoplastic limbic encephalitis Symptoms: Seizure memory changes decreased concentration Medication: Chemotherapy Clinical Procedure: Cerebral images Specialty: Hematology Oncology Objective: Challenging differential diagnosis Background: Paraneoplastic neurological disorders (PND) are defined as remote effects on the nervous system that are not caused directly by the tumor, its metastases, or metabolic disruptions. This syndrome occurs in less than 1 per 10,000 patients diagnosed with a malignancy. Many antibodies are found in the central nervous system in PND, the most well known are Anti-Hu, Tr, CV2 Ta, Yo, Ri and amphiphysin. Paraneoplastic limbic encephalitis occurs due to involvement of the limbic system secondary to an autoimmune response to neurons of the brain provoked by the antibodies. Patients, thus, present with seizures, changes in mood, memory, and personality. Case Report: Fifty-nine years-old female patient presented with seizures, decreased concentration and memory changes. Laboratory workup was remarkable for hyponatremia. Further workup included brain computerized tomography (CT) and magnetic resonance imaging (MRI), which suggested a diagnosis of encephalitis for limbic encephalitis. Anti-Hu, anti-Ma and NMDA-receptor antibodies were requested of which Anti Hu antibodies were positive. Transbronchial biopsy was obtained which confirmed the diagnosis of small cell lung cancer. Conclusions: A very high index of suspicion should thus be present when patients present with paraneoplastic abnormalities. It must be emphasized that limbic encephalitis (LE) occurs at an early stage of the disease development and therefore the detection of paraneoplastic LE can lead to a quicker identification of the underlying malignancy and a better outcome. PMID:24116265

  5. Progressive multifocal leukoencephalopathy (PML) associated with HIV Clade C--is not uncommon.

    PubMed

    Netravathi, M; Mahadevan, Anita; Satishchandra, Parthasarathy; Shobha, N; Mailankody, Pooja; Kandavel, Thennarasu; Jitender, Saini; Anantaram, G; Nagarathna, S; Govekar, S; Ravikumar, B V; Ravi, V; Shankar, S K

    2013-06-01

    Progressive multifocal leukoencephalopathy (PML) is a rare, subacute, demyelinating disease of the central nervous system caused by JC virus. Studies of PML from HIV Clade C prevalent countries are scarce. We sought to study the clinical, neuroimaging, and pathological features of PML in HIV Clade C patients from India. This is a prospective cum retrospective study, conducted in a tertiary care Neurological referral center in India from Jan 2001 to May 2012. Diagnosis was considered "definite" (confirmed by histopathology or JCV PCR in CSF) or "probable" (confirmed by MRI brain). Fifty-five patients of PML were diagnosed between January 2001 and May 2012. Complete data was available in 38 patients [mean age 39 ± 8.9 years; duration of illness-82.1 ± 74.7 days). PML was prevalent in 2.8 % of the HIV cohort seen in our Institute. Hemiparesis was the commonest symptom (44.7 %), followed by ataxia (36.8 %). Definitive diagnosis was possible in 20 cases. Eighteen remained "probable" wherein MRI revealed multifocal, symmetric lesions, hypointense on T1, and hyperintense on T2/FLAIR. Stereotactic biopsy (n = 11) revealed demyelination, enlarged oligodendrocytes with intranuclear inclusions and astrocytosis. Immunohistochemistry revelaed the presence of JC viral antigen within oligodendroglial nuclei and astrocytic cytoplasm. No differences in clinical, radiological, or pathological features were evident from PML associated with HIV Clade B. Clinical suspicion of PML was entertained in only half of the patients. Hence, a high index of suspicion is essential for diagnosis. There are no significant differences between clinical, radiological, and pathological picture of PML between Indian and Western countries. PMID:23700233

  6. MONOSTOTIC PAGET'S DISEASE IN LUMBAR VERTEBRAE: AN ATYPICAL LOCATION

    PubMed Central

    Carvalho, Alexandre Dias; Ibiapina, Jerúsia Oliveira; Santos, Lina Gomes; Carvalho, Teresinha Castelo Branco; Ribeiro, Marcelo Barbosa

    2015-01-01

    A 41-year-old white female patient with complaints of lumbar pain for more than three years, without irradiation, underwent several radiological examinations. Her condition was diagnosed by means of biopsy, as monostotic Paget’ s disease in the third lumbar vertebra. This is an uncommon location.

  7. Changes in Semantic Memory in Early Stage Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Weingartner, Herbert J.; And Others

    1993-01-01

    Contrasts changes in semantic memory in elderly normal controls and Alzheimer's disease (AD) patients before patients expressed symptoms. Found that controls generated more uncommon exemplars from closed semantic categories (fruits and vegetables) than did AD patients prior to presumed onset of AD. AD patients were just as productive as controls…

  8. Dengue eye disease.

    PubMed

    Ng, Aaron W; Teoh, Stephen C

    2015-01-01

    Dengue fever, a viral disease epidemic in some parts of the world, is of considerable international concern, with a growing incidence owing to developing urbanization, tourism, and trade. Ocular manifestations of dengue fever are uncommon, but of great significance. Proposed mechanisms include direct viral infection as well as immunologic phenomena. Common manifestations include subconjunctival, vitreous, and retinal hemorrhages; posterior uveitis; optic neuritis; and maculopathies such as foveolitis, hemorrhage, and edema. Main symptoms include blurring of vision, scotomata, metamorphopsia, and floaters. Diagnostic and monitoring investigations described included optical coherence tomography, fundus fluorescein and indocyanine green angiography, visual field analysis, and electrophysiologic tests. Management is based on clinical presentation and includes active surveillance as well as various anti-inflammatory and immunosuppressive therapies. There have been no prospective, randomized therapeutic trials, and it is unclear if the disease is self-limiting or if treatment is actually beneficial. Prognosis varies, ranging from full resolution to permanent vision loss despite intervention. PMID:25223497

  9. Skeletal photopenic appearance of Paget's disease with indium-111 white blood cell imaging

    SciTech Connect

    Borin, B.F.; Abghari, R.; Sarkissian, A.

    1987-10-01

    A case of focal decreased skeletal uptake with In-111 labeled white blood cells representing Paget's disease is reported. Although uncommon, other causes for skeletal photon deficient areas using In-111 white blood cells have been described. To the authors' knowledge, this finding representing Paget's disease has not been previously described.

  10. Rectal ulcer with an elusive diagnosis: all that ulcers is not Crohn disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A single rectal ulcer is an uncommon finding in children with gastrointestinal disease. Although inflammatory bowel disease (IBD) is foremost among the differential diagnoses, a primary immunological defect should not be forgotten. Because of the paucity of literature on the association of rectal ul...

  11. Melanized Fungi in Human Disease

    PubMed Central

    Revankar, Sanjay G.; Sutton, Deanna A.

    2010-01-01

    Summary: Melanized or dematiaceous fungi are associated with a wide variety of infectious syndromes. Many are soil organisms and are generally distributed worldwide, though certain species appear to have restricted geographic ranges. Though they are uncommon causes of disease, melanized fungi have been increasingly recognized as important pathogens, with most reports occurring in the past 20 years. The spectrum of diseases with which they are associated has also broadened and includes allergic disease, superficial and deep local infections, pneumonia, brain abscess, and disseminated infection. For some infections in immunocompetent individuals, such as allergic fungal sinusitis and brain abscess, they are among the most common etiologic fungi. Melanin is a likely virulence factor for these fungi. Diagnosis relies on careful microscopic and pathological examination, as well as clinical assessment of the patient, as these fungi are often considered contaminants. Therapy varies depending upon the clinical syndrome. Local infection may be cured with excision alone, while systemic disease is often refractory to therapy. Triazoles such as voriconazole, posaconazole, and itraconazole have the most consistent in vitro activity. Further studies are needed to better understand the pathogenesis and optimal treatment of these uncommon infections. PMID:20930077

  12. Primary Immunodeficiency Masquerading as Allergic Disease.

    PubMed

    Chan, Sanny K; Gelfand, Erwin W

    2015-11-01

    Primary immune deficiencies (PIDs) are an uncommon heterogeneous group of diseases that result from fundamental defects in the proteins and cells that enable specific immune responses. Common allergic reactions (eczema, allergic rhinitis, asthma, and food allergies) are exaggerated immune responses that may be manifestations of an underlying PID. Early diagnosis and treatment has significant bearing on outcome. Immune suppression with systemic corticosteroids in these immune compromised individuals can lead to life threatening dissemination of infections. PMID:26454318

  13. Graves’ disease allied with multiple pheochromocytoma

    PubMed Central

    Housni, Brahim; Elharroudi, Tijani; Soufi, Mehdi; Bouziane, Mohammed; Azzouzi, Abderahim

    2013-01-01

    Pheochromocytoma is an uncommon cause of high blood pressure touching adults. The combination of severe hypertension in the triad of headache, sweating, and tachycardia should suggest this diagnosis; this clinical picture is similar to that of hyperthyroidism. We report the case of a 22-year-old patient with multiple pheochromocytoma associated with Graves’ disease revealed by malignant hypertension and discussed the difficulties of the diagnosis and the treatment approach. PMID:23776912

  14. Graves' disease allied with multiple pheochromocytoma.

    PubMed

    Housni, Brahim; Elharroudi, Tijani; Soufi, Mehdi; Bouziane, Mohammed; Azzouzi, Abderahim

    2013-03-01

    Pheochromocytoma is an uncommon cause of high blood pressure touching adults. The combination of severe hypertension in the triad of headache, sweating, and tachycardia should suggest this diagnosis; this clinical picture is similar to that of hyperthyroidism. We report the case of a 22-year-old patient with multiple pheochromocytoma associated with Graves' disease revealed by malignant hypertension and discussed the difficulties of the diagnosis and the treatment approach. PMID:23776912

  15. Cultural-Linguistic Aspects in Asian Language Teaching. Proceedings of the First Annual Meeting of the American Council of Teachers of Uncommonly-Taught Asian Languages.

    ERIC Educational Resources Information Center

    Dardjowidjojo, Soenjono, Comp.

    Problems encountered by teachers of uncommonly-taught Asian languages attempting to teach the culture of the native speakers of the target language are discussed in these articles: (1) "Cultural Context, Linguistic Categories, and Foreign Language Teaching: A Case from Marathi" by Vasant S. Khokle, (2) "The Ethnology of Communication and the

  16. Language, Literature and Society. Working Papers, 1973 Conference, American Council of Teachers of Uncommonly Taught Asian Languages. Occasional Papers No. 1.

    ERIC Educational Resources Information Center

    Dellinger, David W., Ed.

    This volume is a collection of papers presented at the second annual meeting of the American Council of Teachers of Uncommonly-taught Asian Languages (ACTUAL) held in Boston, Massachusetts. The following papers are included: (1) "Passives as Reflections of Thought: A Case in Indonesian" by S. Dardjowidjojo, (2) "Acquainting Language Students with

  17. Languages of Western Europe. Pidgins and Creoles (European Based). A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Center for Applied Linguistics, Arlington, VA.

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught European languages which are not national languages. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The focus is on materials for the

  18. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

    PubMed

    Chaussenot, A; Rouzier, C; Quere, M; Plutino, M; Ait-El-Mkadem, S; Bannwarth, S; Barth, M; Dollfus, H; Charles, P; Nicolino, M; Chabrol, B; Vialettes, B; Paquis-Flucklinger, V

    2015-05-01

    WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large-scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large-scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late-onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly-inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1-related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing. PMID:24890733

  19. Uncommon or cryptic? Challenges in estimating leopard seal abundance by conventional but state-of-the-art methods

    NASA Astrophysics Data System (ADS)

    Southwell, Colin; Paxton, Charles G. M.; Borchers, David; Boveng, Peter; Rogers, Tracey; de la Mare, William K.

    2008-04-01

    The method traditionally used to estimate pack-ice seal abundance employs sighting surveys from ships or aircraft to estimate the number of seals hauled out on the ice, combined with studies of haul-out behaviour to estimate the proportion of time spent on the ice. Application of this approach has been improved in recent times by developments in survey methodology and satellite technology that theoretically allow biases in the estimation of hauled-out abundance and haul-out behaviour to be accounted for that previously could not be addressed. A survey using these conventional but state-of-the-art methods was undertaken in the summer of 1999/2000 off east Antarctica between longitudes 64°E and 150°E to estimate the abundance of leopard ( Hydrurga leptonyx) and other pack-ice seal species. Because they are either uncommon or very cryptic, very few leopard seals were encountered despite a large survey effort. This presented challenges in both application of the methods and analysis of the data. Abundance estimates were derived using a number of plausible predictive models. The model considered as the most reliable returned best estimates of 7300 and 12,100 for definite and definite plus probable leopard seal sightings, respectively, with 95% confidence intervals of 3700-14,500 and 7100-23,400. These estimates are likely to be negatively biased and should be treated as minimum estimates only.

  20. Sea Anemone Peptide with Uncommon ?-Hairpin Structure Inhibits Acid-sensing Ion Channel 3 (ASIC3) and Reveals Analgesic Activity*

    PubMed Central

    Osmakov, Dmitry I.; Kozlov, Sergey A.; Andreev, Yaroslav A.; Koshelev, Sergey G.; Sanamyan, Nadezhda P.; Sanamyan, Karen E.; Dyachenko, Igor A.; Bondarenko, Dmitry A.; Murashev, Arkadii N.; Mineev, Konstantin S.; Arseniev, Alexander S.; Grishin, Eugene V.

    2013-01-01

    Three novel peptides were isolated from the venom of the sea anemone Urticina grebelnyi. All of them are 29 amino acid peptides cross-linked by two disulfide bridges, with a primary structure similar to other sea anemone peptides belonging to structural group 9a. The structure of the gene encoding the shared precursor protein of the identified peptides was determined. One peptide, ?-AnmTX Ugr 9a-1 (short name Ugr 9-1), produced a reversible inhibition effect on both the transient and the sustained current of human ASIC3 channels expressed in Xenopus laevis oocytes. It completely blocked the transient component (IC50 10 0.6 ?m) and partially (48 2%) inhibited the amplitude of the sustained component (IC50 1.44 0.19 ?m). Using in vivo tests in mice, Ugr 9-1 significantly reversed inflammatory and acid-induced pain. The other two novel peptides, AnmTX Ugr 9a-2 (Ugr 9-2) and AnmTX Ugr 9a-3 (Ugr 9-3), did not inhibit the ASIC3 current. NMR spectroscopy revealed that Ugr 9-1 has an uncommon spatial structure, stabilized by two S-S bridges, with three classical ?-turns and twisted ?-hairpin without interstrand disulfide bonds. This is a novel peptide spatial structure that we propose to name boundless ?-hairpin. PMID:23801332

  1. Outbreak of Uncommon O4 Non-Agglutinating Salmonella Typhimurium Linked to Minced Pork, Saxony-Anhalt, Germany, January to April 2013

    PubMed Central

    Helmeke, Carina; Kohlstock, Claudia; Prager, Rita; Tietze, Erhard; Rabsch, Wolfgang; Karagiannis, Ioannis; Werber, Dirk; Frank, Christina; Fruth, Angelika

    2015-01-01

    Introduction In January 2013, the National Reference Centre for Salmonella (NRC) detected a salmonellosis cluster in Saxony-Anhalt, Germany, caused by uncommon O4 non-agglutinating, monophasic Salmonella (S.) Typhimurium DT193. Circulating predominant monophasic S. Typhimurium DT193 clones typically display resistance phenotype ASSuT. We investigated common exposures to control the outbreak, and conducted microbiological investigations to assess the strains’ phenotype. Methods We conducted a case-control study defining cases as persons living or working in Saxony-Anhalt diagnosed with the O4 non-agglutinating strain between January and March 2013. We selected two controls contemporarily reported with norovirus infection, frequency-matched on residence and age group, per case. We interviewed regarding food consumption, especially pork and its place of purchase. We calculated odds ratios (ORs) with 95% confidence intervals (95% CI) using logistic regression. The NRC investigated human and food isolates by PCR, SDS-PAGE, MLST, PFGE, MLVA and susceptibility testing. Results Altogether, 68 O4 non-agglutinating human isolates were confirmed between January and April 2013. Of those, 61 were assigned to the outbreak (median age 57 years, 44% female); 83% cases ≥ 60 years were hospitalized. Eating raw minced pork from butcheries within 3 days was associated with disease (31 cases, 28 controls; OR adjusted for sex: 3.6; 95% CI: 1.0-13). Phage type DT193 and MLST ST34 were assigned, and isolates’ lipopolysaccharide (LPS) matched control strains. Isolates linked to Saxony-Anhalt exhibited PFGE type 5. ASSuT- and ACSSuT phenotype proportions were 34 and 39% respectively; 54% were resistant to chloramphenicol. Three pork isolates matched the outbreak strain. Discussion Raw minced pork was the most likely infection vehicle in this first reported outbreak caused by O4 non-agglutinating, mostly chloramphenicol-resistant S. Typhimurium DT193. High hospitalization proportions demand awareness on the risk of consumption of raw pork among elderly. LPS analysis indicated O4 expression; therefore, testing with antisera from different lots is recommendable in unexpected agglutination reactions. PMID:26030424

  2. The University's Uncommon Community

    ERIC Educational Resources Information Center

    Harris, Suzy

    2012-01-01

    In the UK, as elsewhere in the world, the global financial crisis has focused attention on the cost of public services and the need to reduce expenditure, not least in respect of higher education. This, however, raises a set of prior questions: What kind of society do we want? What is important to democratic society? What kind of higher education

  3. The University's Uncommon Community

    ERIC Educational Resources Information Center

    Harris, Suzy

    2012-01-01

    In the UK, as elsewhere in the world, the global financial crisis has focused attention on the cost of public services and the need to reduce expenditure, not least in respect of higher education. This, however, raises a set of prior questions: What kind of society do we want? What is important to democratic society? What kind of higher education…

  4. An Uncommon Cottage

    ERIC Educational Resources Information Center

    Carlson, Scott

    2008-01-01

    This article features the Cliffs Cottage, a "showcase home" at Furman University which demonstrates the use of green technology in residential building and teaches about sustainability. Custom-built for the shelter-magazine dreams of "Southern Living," a sponsor of the home, the house seems better suited for a tony subdivision. The Cliffs Cottage

  5. An Uncommon Cottage

    ERIC Educational Resources Information Center

    Carlson, Scott

    2008-01-01

    This article features the Cliffs Cottage, a "showcase home" at Furman University which demonstrates the use of green technology in residential building and teaches about sustainability. Custom-built for the shelter-magazine dreams of "Southern Living," a sponsor of the home, the house seems better suited for a tony subdivision. The Cliffs Cottage…

  6. Uncommon presentations in neuroblastoma.

    PubMed

    Mohan, V; Gupta, S K; Sharma, O P; Cherian, J; Katiyar, G P

    1982-01-01

    Two cases of neuroblastoma with unusual presentation are reported. In the first case it presented as a general swelling of the head and in the second case it presented as generalized pains in the bones particularly the pelvis and left leg. PMID:7183653

  7. An unusual cause of pancytopenia: Whipple's disease

    PubMed Central

    Tun, Nay T.; Shukla, Shwetanshu; Krishnakurup, Jaykrishnan; Pappachen, Binu; Krishnamurthy, Mahesh; Salib, Hayman

    2014-01-01

    Whipple's disease is a systemic infectious disease caused by the bacteria Tropheryma whipplei. The most common clinical manifestations of Whipple's disease are weight loss (92%), hypoalbuminemia and steatorrhea (91%, respectively), diarrhea (72%), arthralgia (67%), and abdominal pain (55%). Neurological signs and symptoms from dementia to oculomasticatory myorhythmia or oculofacioskeletal myorhythmia (pathognomonic of Whipple's disease), lymphadenopathy, and fatigue can also be present. Pancytopenia is a rare and less recognized clinical feature in Whipple's disease patients. We are describing a case where a middle-aged Caucasian male diagnosed with Whipple's disease was found to have pancytopenia. Etiology of pancytopenia is postulated to be due to the invasion of bone marrow by T. whipplei. It is important to recognize that bone marrow involvement by the Whipple bacillus is not uncommon. In the presence of lymphadenopathy and pancytopenia, clinicians should think of Whipple's disease as a differential diagnosis apart from lymphoma or other non-specific granulomatous reticuloendothelial disorders. PMID:24765256

  8. The liver in pediatric gastrointestinal disease.

    PubMed

    Vo, Hanh D; Xu, Jiliu; Rabinowitz, Simon S; Fisher, Stanley E; Schwarz, Steven M

    2014-09-01

    Hepatic involvement is often encountered in gastrointestinal (GI) diseases, in part because of the close anatomic and physiologic relations between the liver and GI tract. Drainage of the mesenteric blood supply to the portal vein permits absorbed and/or translocated nutrients, toxins, bacterial elements, cytokines, and immunocytes to gain hepatic access. Liver problems in digestive disorders may range from nonspecific hepatocellular enzyme elevations to significant pathologic processes that may progress to end-stage liver disease. Hepatobiliary manifestations of primary GI diseases in childhood and adolescence are not uncommon and include several well-described associations, such as sclerosing cholangitis with inflammatory bowel disease. Liver damage may also result from the effects of drugs used to treat GI diseases, for example, the hepatotoxicity of immunomodulatory therapies. This review highlights the important features of the hepatic and biliary abnormalities associated with 3 common pediatric GI conditions: inflammatory bowel disease, celiac disease, and cystic fibrosis. PMID:25144777

  9. Genomic characterization of uncommon human G3P[6] rotavirus strains causing diarrhea in children in Italy in 2009.

    PubMed

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Group A rotaviruses (RVA) are the leading cause of acute gastroenteritis in young children, causing up to 450,000 deaths worldwide, mostly in developing countries. Most of RVA human infections in developed countries are related to five major G/P combinations: G1P[8], G2P[4], G3P[8], G4P[8] and G9P[8]. During the surveillance activity of RotaNet-Italy, three uncommon G3P[6] RVA strains, designated as RVA/Human-wt/ITA/NA01/2009/G3P[6], RVA/Human-wt/ITA/NA06/2009/G3P[6], and RVA/Human-wt/ITA/NA19/2009/G3P[6], were identified in the stools of children with diarrhea hospitalized in Southern Italy in 2009. Samples NA01, NA06 and NA19 were characterized as genotype G3P[6]. To investigate the three strains further, partial sequencing of the eleven genomic segments was performed. RVA strains NA01, NA06 and NA19 were found to share the rare genotype constellation: G3-P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2, which had not been reported previously in continental Italy. The phylogenetic analysis of the eleven genomic segments showed no evidence of zoonosis or inter-species reassortment at the origin of the Italian G3P[6] strains, indicating that they possessed DS-1-like genomic constellations similar to those detected previously in human cases in Africa and Europe. The analysis of the hypervariable regions of VP7 and VP4 (VP8*) revealed high amino acid identity between the Italian G3P[6] RVA strains involved in this study. PMID:25913157

  10. Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within Europe

    PubMed Central

    Olivieri, Anna; Pala, Maria; Gandini, Francesca; Kashani, Baharak Hooshiar; Perego, Ugo A.; Woodward, Scott R.; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B.; Torroni, Antonio

    2013-01-01

    The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ?19 ky ago, and the beginning of the first main warming phase, ?15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe. PMID:23936216

  11. An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Quarterly report, October 1, 1992--December 31, 1992

    SciTech Connect

    Watson, R.W.; Ertekin, T.; Owolabi, O.O.

    1992-12-31

    The overall objectives of the project are: To develop a better understanding of some important but not really well investigated rock/pore properties such as: tortuosity, pore-size distribution. surface area, and wettability, and a better insight on capillary pressure variation with respect to wettability and pore geometry of sandstone and limestone. To improve the understanding of fluid flow in porous media under conditions of secondary and tertiary recovery, through the laboratory study of the performance of enhanced recovery methods such as waterflooding. To develop empirical relationships between residual oil saturation and oil recovery at breakthrough and the uncommon rock/pore properties. Develop relationships between residual oil saturation and ultimate-oil recovery at floodout and the uncommon rock/pore properties for the different porous media. Furthermore, variations of irreducible water saturation, porosity and absolute permeability with respect to the uncommon rock/pore properties, residual oil saturation and oil recovery will be investigated. During the current quarter, the mercury porosimetry experiments on limestone core-plug samples were completed. The experimental data were also fully analyzed.

  12. Bone Quality in Paget's Disease of Bone.

    PubMed

    Singer, Frederick R

    2016-04-01

    Paget's disease of bone is produced by a localized increase in osteoclastic and osteoblastic activity which can progress slowly to involve an entire bone if untreated. A common feature is enlarged bones which are deformed, particularly in weight-bearing regions of the skeleton such as the lower extremity. Pathologic fractures may be a consequence, and nonunion of femoral fractures is not uncommon. Analyses of bone biopsies from patients with Paget's disease indicate that there is a lower, heterogeneous degree of bone mineralization and a younger tissue age than that found in control bone. Pagetic bone also has less resistance to plastic deformation and a straighter crack path than control bone. PMID:26943142

  13. Salivary gland diseases in children

    PubMed Central

    Iro, Heinrich; Zenk, Johannes

    2014-01-01

    Salivary gland diseases in children are rare, apart from viral-induced diseases. Nevertheless, it is essential for the otolaryngologist to recognize these uncommon findings in children and adolescents and to diagnose and initiate the proper treatment. The present work provides an overview of the entire spectrum of congenital and acquired diseases of the salivary glands in childhood and adolescence. The current literature was reviewed and the results discussed and summarized. Besides congenital diseases of the salivary glands in children, the main etiologies of viral and bacterial infections, autoimmune diseases and tumors of the salivary glands were considered. In addition to the known facts, new developments in diagnostics, imaging and therapy, including sialendoscopy in obstructive diseases and chronic recurrent juvenile sialadenitis were taken into account. In addition, systemic causes of salivary gland swelling and the treatment of sialorrhoea were discussed. Although salivary gland diseases in children are usually included in the pathology of the adult, they differ in their incidence and some­times in their symptoms. Clinical diagnostics and especially the surgical treatment are influenced by a stringent indications and a less invasive strategy. Due to the rarity of tumors of the salivary glands in children, it is recommended to treat them in a specialized center with greater surgical experience. Altogether the knowledge of the differential diagnoses in salivary gland diseases in children is important for otolaryngologists, to indicate the proper therapeutic approach. PMID:25587366

  14. Management of a giant inguinoscrotal hernia with an ulcerated base in a patient with cardiac disease

    PubMed Central

    Turner, E Jane H; Malhas, Amar; Chisti, Imran; Oke, Tayo

    2010-01-01

    Giant inguinal herniae pose a surgical challenge, though not uncommon in the developing world they are a rare presentation in the UK. We present a patient with cardiac disease who presented with a giant inguino-scrotal hernia complicated by a bleeding scrotal ulcer. We describe his medical management and the surgical repair of the hernia and refashioning of his scrotum. PMID:24946352

  15. Isolated primary hydatid cyst of small intestinal mesentery: an exceptional location of hydatid disease

    PubMed Central

    Najih, Mohammed; Chabni, Ali; Attoulou, Gilles; Yamoul, Rajae; Yakka, Mbarek; Ehirchiou, Abdelkader; AlKandry, Siffedine

    2012-01-01

    Hydatid disease is an endemic problem in some areas of the world. Common sites include liver and lungs. We report an unusual case of isolated primary Hydatid cyst of small gut mesentery. Characteristics of this uncommon location, mechanism, diagnostic difficulties, and treatment are discussed. PMID:23308322

  16. Vitamin B6: a challenging link between nutrition and inflammation in cardiovasular disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective of the present review is to highlight the relationship between low vitamin B6 status and cardiovascular disease (CVD) through its link with inflammation. While overt vitamin B6 deficiency is uncommon in clinical practice, increasing evidence suggests that mild vitamin B6 deficiency is ...

  17. Zygomycetes in Human Disease

    PubMed Central

    Ribes, Julie A.; Vanover-Sams, Carolyn L.; Baker, Doris J.

    2000-01-01

    The Zygomycetes represent relatively uncommon isolates in the clinical laboratory, reflecting either environmental contaminants or, less commonly, a clinical disease called zygomycosis. There are two orders of Zygomycetes containing organisms that cause human disease, the Mucorales and the Entomophthorales. The majority of human illness is caused by the Mucorales. While disease is most commonly linked to Rhizopus spp., other organisms are also associated with human infection, including Mucor, Rhizomucor, Absidia, Apophysomyces, Saksenaea, Cunninghamella, Cokeromyces, and Syncephalastrum spp. Although Mortierella spp. do cause disease in animals, there is no longer sufficient evidence to suggest that they are true human pathogens. The spores from these molds are transmitted by inhalation, via a variety of percutaneous routes, or by ingestion of spores. Human zygomycosis caused by the Mucorales generally occurs in immunocompromised hosts as opportunistic infections. Host risk factors include diabetes mellitus, neutropenia, sustained immunosuppressive therapy, chronic prednisone use, iron chelation therapy, broad-spectrum antibiotic use, severe malnutrition, and primary breakdown in the integrity of the cutaneous barrier such as trauma, surgical wounds, needle sticks, or burns. Zygomycosis occurs only rarely in immunocompetent hosts. The disease manifestations reflect the mode of transmission, with rhinocerebral and pulmonary diseases being the most common manifestations. Cutaneous, gastrointestinal, and allergic diseases are also seen. The Mucorales are associated with angioinvasive disease, often leading to thrombosis, infarction of involved tissues, and tissue destruction mediated by a number of fungal proteases, lipases, and mycotoxins. If the diagnosis is not made early, dissemination often occurs. Therapy, if it is to be effective, must be started early and requires combinations of antifungal drugs, surgical intervention, and reversal of the underlying risk factors. The Entomophthorales are closely related to the Mucorales on the basis of sexual growth by production of zygospores and by the production of coenocytic hyphae. Despite these similarities, the Entomophthorales and Mucorales have dramatically different gross morphologies, asexual reproductive characteristics, and disease manifestations. In comparison to the floccose aerial mycelium of the Mucorales, the Entomophthorales produce a compact, glabrous mycelium. The asexually produced spores of the Entomophthorales may be passively released or actively expelled into the environment. Human disease with these organisms occurs predominantly in tropical regions, with transmission occurring by implantation of spores via minor trauma such as insect bites or by inhalation of spores into the sinuses. Conidiobolus typically infects mucocutaneous sites to produce sinusitis disease, while Basidiobolus infections occur as subcutaneous mycosis of the trunk and extremities. The Entomophthorales are true pathogens, infecting primarily immunocompetent hosts. They generally do not invade blood vessels and rarely disseminate. Occasional cases of disseminated and angioinvasive disease have recently been described, primarily in immunocompromised patients, suggesting a possible emerging role for this organism as an opportunist. PMID:10756000

  18. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

    PubMed

    Zhang, Feng; Potocki, Lorraine; Sampson, Jacinda B; Liu, Pengfei; Sanchez-Valle, Amarilis; Robbins-Furman, Patricia; Navarro, Alicia Delicado; Wheeler, Patricia G; Spence, J Edward; Brasington, Campbell K; Withers, Marjorie A; Lupski, James R

    2010-03-12

    Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders associated with a 3.7 Mb deletion and its reciprocal duplication in 17p11.2, respectively. In addition to these common recurrent rearrangements, an uncommon recurrent 5 Mb SMS-associated deletion has been identified. However, its reciprocal duplication predicted by the NAHR mechanism had not been identified. Here we report the molecular assays on 74 subjects with PTLS-associated duplications, 35 of whom are newly investigated. By both oligonucleotide-based comparative genomic hybridization and recombination hot spot analyses, we identified two cases of the predicted 5 Mb uncommon recurrent PTLS-associated duplication. Interestingly, the crossovers occur in proximity to a recently delineated allelic homologous recombination (AHR) hot spot-associated sequence motif, further documenting the common hot spot features shared between NAHR and AHR. An additional eight subjects with nonrecurrent PTLS duplications were identified. The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism. Sequence complexities consistent with DNA replication-based mechanisms were identified in four of eight (50%) newly identified nonrecurrent PTLS duplications. Our findings of the uncommon recurrent PTLS-associated duplication at a relative prevalence reflecting the de novo mutation rate and the distribution of 17p11.2 duplication types in PTLS reveal insights into both the contributions of new mutations and the different underlying mechanisms that generate genomic rearrangements causing genomic disorders. PMID:20188345

  19. An outbreak of salmonella chester infection in Canada: rare serotype, uncommon exposure, and unusual population demographic facilitate rapid identification of food vehicle.

    PubMed

    Taylor, John; Galanis, Eleni; Wilcott, Lynn; Hoang, Linda; Stone, Jason; Ekkert, Judi; Quibell, Doug; Huddleston, Mark; McCormick, Rachel; Whitfield, Yvonne; Adhikari, Bijay; Grant, Christopher C R; Sharma, Davendra

    2012-04-01

    Salmonella Chester infection has rarely been reported in the literature. In 2010, 33 case patients were reported in 2 months in four Canadian provinces. We conducted an outbreak investigation in collaboration with public health agencies, food safety specialists, regulatory agencies, grocery store chains, and the product distributor. We used case patient interviews, customer loyalty cards, and microbiological testing of clinical and food samples to identify nationally distributed head cheese as the food vehicle responsible for the outbreak. The rare serotype, a limited affected demographic group, and an uncommon exposure led to the rapid identification of the source. Control measures were implemented within 9 days of notification of the outbreak. PMID:22488063

  20. Pulmonary Langerhans Histiocytosis: an uncommon cause of interstitial pneumonia in a patient with Sjögren syndrome.

    PubMed

    González García, Andrés; Callejas Rubio, José Luis; Ríos Fernández, Raquel; Ortego Centeno, Norberto

    2016-03-01

    Sjögren syndrome is a chronic, systemic, and autoimmune disorder that targets exocrine glands by remarkable B cell hyperactivity. Eventually, it is associated with extra-glandular clinical manifestations that affect essentially any organ system, including pulmonary involvement. Interstitial lung disease is one of the most serious pulmonary complications, and the early diagnosis is essential to initiate a prompt therapy. On the other hand, Sjögren syndrome could present concomitantly with several rheumatologic diseases such as systemic lupus erythematosus or rheumatoid arthritis. Pulmonary Langerhans Histiocytosis is a rare clonal proliferative disease characterized by pulmonary involvement by cells phenotypically similar to Langerhans cells. We describe the case of a nonsmoker 62-year-old woman with Sjögren syndrome who presented concomitantly a Pulmonary Langerhans Histiocytosis mimicking a pulmonary complication of its Sjögren. Fortunately, she had a well response to corticosteroids and azathioprine regimen. The aim of the paper is to emphasize the importance of the good differential diagnosis related to the pulmonary involvement. To the best of our knowledge, this is the first description of these two entities in the literature. PMID:25894436

  1. The pathologist's approach to small airways disease.

    PubMed

    Rice, Alexandra; Nicholson, Andrew G

    2009-01-01

    The small airways constitute a significant compartment of the lung, and diseases therein are not uncommon, occurring in a wide variety of diseases, either as a primary bronchiolar disorder or as a component of local or systemic disease affecting multiple anatomical compartments. Unlike the idiopathic interstitial pneumonias, there is as yet no consensus classification system for bronchiolar disorders, and a multidisciplinary approach to their classification is discussed. Whereas some conditions show relatively characteristic histological features, others show non-specific or subtle changes that rely on a combination of clinical, radiological and pathological information for accurate final diagnosis. Furthermore, certain diseases of the small airways have been better characterized recently, and several provisional new entities have also been described, some of these being reviewed here. PMID:19187181

  2. Optic neuritis revealing Kikuchi-Fujimoto disease.

    PubMed

    Bouquet, F; Maillart, E; Vignal, C; Battistella, M; Meignin, V; Galicier, L; Gout, O

    2014-03-01

    Kikuchi-Fujimoto disease is a rare systemic disease with uncommon neurological involvement. We report the case of a 30-year-old Asian woman who presented a rapidly progressive loss of vision. Magnetic resonance imaging (MRI) of the optic nerve revealed an inflammation of the left optic nerve with chiasmatic involvement, without any encephalic or medullar lesion. Thoracic computed tomography scan showed bilateral axillary lymphadenopathy. Analysis of a biopsy of the axillary lymph node showed typical histological findings of Kikuchi-Fujimoto disease. There was no clinical or biological sign of associated systemic lupus erythematosus. The patient spontaneously recovered normal visual acuity in 4 weeks, with resolution of MRI abnormalities. No optic neuritis relapse or neurological event occurred in a 3-year follow-up. To our knowledge this is the first case of optic neuritis associated with Kikuchi-Fujimoto disease. PMID:24596142

  3. Cry-like genes, in an uncommon gene configuration, produce a crystal that localizes within the exosporium when expressed in an acrystalliferous strain of Bacillus thuringiensis.

    PubMed

    Ammons, David; Toal, Graham; Roman, Angel; Rojas-Avelizapa, Luz I; Ventura-Suárez, Antonio; Rampersad, Joanne

    2016-02-01

    Cry proteins are pesticidal toxins produced by the bacterium Bacillus thuringiensis (Bt), which aggregate in sporulating cells to form a crystal. Except in a relatively few cases, these crystals are located outside the exosporium that surrounds the spore. Bt2-56 is a strain of Bt that has the relatively uncommon characteristic of locating its Cry protein-containing crystal within the exosporium, and in association with a long, multifiber filament. With the ultimate goal of both understanding and manipulating the localization of Cry proteins within the exosporium, we sought to identify the genes coding for the exosporium-localized Cry proteins in Bt2-56. Herein we show (i) that five cry-like genes are present in the genome of Bt2-56, (ii) that two pairs of these genes show organizational similarity to a relatively uncommon gene configuration that coexpress a cry gene along with a gene whose product aids crystal formation and (iii) that when one of these two gene pairs (cry21A-cdA) is expressed in an acrystalliferous strain of Bt, crystals are formed that localize within the exosporium. In Bt ssp. finitimus, the only other strain in which crystal localization has been studied, a Cry protein needed expression of two non-cry ORFs in order to localize within the exosporium, indicating that there are some mechanistic differences for crystal localization between Bt ssp. finitimus and Bt2-56. PMID:26781916

  4. Large bowel obstruction resulting from bladder transitional cell carcinoma metastasis: a common cancer presenting in an uncommon manner.

    PubMed

    Rohloff, Matthew; VandenBerg, Todd; MacMath, Terry

    2015-01-01

    Transitional cell carcinoma (TCC) and large bowel obstructions are both common disease processes typically considered unrelated. Presented below is the case of a 49-year-old male with a large bowel obstruction caused by a bladder TCC metastasis. One year prior to large bowel obstruction presentation, the patient had a T2, Grade III TCC of the bladder with no nodal involvement or metastasis, which was removed via radical cystoprostatectomy. This case serves as a reminder that cancer, despite common pathogenesis patterns, can present in atypical ways. PMID:26197806

  5. Human adenovirus type 8 epidemic keratoconjunctivitis with large corneal epithelial full-layer detachment: an endemic outbreak with uncommon manifestations

    PubMed Central

    Lee, Yueh-Chang; Chen, Nancy; Huang, I-Tsong; Yang, Hui-Hua; Huang, Chin-Te; Chen, Li-Kuang; Sheu, Min-Muh

    2015-01-01

    Epidemic viral conjunctivitis is a highly contagious disease that is encountered year-round. The causative agents are mainly adenoviruses and enteroviruses. It occurs most commonly upon infection with subgroup D adenoviruses of types 8, 19, or 37. For common corneal involvement of human adenovirus type 8 epidemic keratoconjunctivitis, full-layer epithelial detachment is rarely seen. Herein, we report three cases of epidemic keratoconjunctivitis during an outbreak which manifested as large corneal epithelial full-layer detachment within a few days. The lesions healed without severe sequelae under proper treatment. The unique manifestation of this outbreak may indicate the evolution of human adenovirus type 8. PMID:26060391

  6. Large bowel obstruction resulting from bladder transitional cell carcinoma metastasis: a common cancer presenting in an uncommon manner

    PubMed Central

    Rohloff, Matthew; VandenBerg, Todd; MacMath, Terry

    2015-01-01

    Transitional cell carcinoma (TCC) and large bowel obstructions are both common disease processes typically considered unrelated. Presented below is the case of a 49-year-old male with a large bowel obstruction caused by a bladder TCC metastasis. One year prior to large bowel obstruction presentation, the patient had a T2, Grade III TCC of the bladder with no nodal involvement or metastasis, which was removed via radical cystoprostatectomy. This case serves as a reminder that cancer, despite common pathogenesis patterns, can present in atypical ways. PMID:26197806

  7. Psoriasis with extramammary paget disease in a male: a case report

    PubMed Central

    Liu, Junlian; Chen, Wei; Zhou, Jinlian; Liu, Jianjun; Zhang, Jianzhong

    2015-01-01

    Psoriasis is a chronic inflammatory skin disease that is characterized by erythematous, sharply demarcated papules and plaques covered by scales. Extramammary Paget disease (EMPD) is a uncommon neoplastic condition of apocrine gland-bearing skin and its occurrence in combination with psoriasis is very rare. We report an interesting case of a 61-year-old male with extensive psoriasis presented with penoscrotal EMPD, which was confirmed by histopathological stain. PMID:26339450

  8. [Helminths and inflammatory bowel diseases].

    PubMed

    Laclotte, C; Oussalah, A; Rey, P; Bensenane, M; Pluvinage, N; Chevaux, J-B; Trouilloud, I; Serre, A-A; Boucekkine, T; Bigard, M-A; Peyrin-Biroulet, L

    2008-12-01

    The current etiologic model of inflammatory bowel diseases proposes a genetically predisposed host responding to a variety of environmental triggers by exhibiting an abnormal immune response to normal luminal flora. Crohn's disease is common in highly industrialized western countries where helminths are rare and uncommon in less developed areas of the world where most people carry worms. From this observation grew the hygiene hypothesis, which states that our failure to be exposed to previously common infectious agents alters the immune repertoire established in childhood. Helminths diminish immune responsiveness in naturally colonised humans and reduce inflammation in experimental colitis. Crohn's disease involves over reactive T-helper (Th1) pathways, and helminths blunt Th1 responses, inducing production of Th2 cytokines. Helminths also induce regulatory T cells to maintain host mucosal homeostasis. Thus, there is an immunological basis to expect that exposure to helminths such as Trichuris suis will prove beneficial in Crohn's disease. Exposure to helminths may be effective in treating inflammatory bowel diseases and was well tolerated, according to the results of few studies. Its long-term safety remains unknown. PMID:18619749

  9. An uncommon cause of visceral arterial embolism in patients presenting with acute abdominal pain: a report of 2 cases.

    PubMed

    Ulenaers, M; Buchel, O C; Van Olmen, A; Moons, V; D'Haens, G; Christiaens, P

    2010-01-01

    We report on 2 cases of visceral arterial embolism presenting with acute abdominal pain. In neither patient a cause could be established on initial clinical, laboratory, echographic or radiological investigation. Both patients were subsequently found to have a mural thrombus in the thoracic aorta, with visceral arterial embolism. Each underwent a successful operative thrombectomy. Both patients had a normal underlying aortic intima at inspection. The first patient was a young male with no known diseases. He regularly used cannabis and tested positive on admission, an association not yet reported with aortic mural thrombus. He was found to have a slightly reduced protein C. The second patient was a middle aged man with non-insulin dependent diabetes, hyperlipidaemia, arterial hypertension and hyperthyroidism. He was found to have an underlying adenocarcinoma of the lung and received chemotherapy. He died due to his cancer, 4 months after first presentation. PMID:20458852

  10. Epidemiology and clinical management of Legionnaires' disease.

    PubMed

    Phin, Nick; Parry-Ford, Frances; Harrison, Timothy; Stagg, Helen R; Zhang, Natalie; Kumar, Kartik; Lortholary, Olivier; Zumla, Alimuddin; Abubakar, Ibrahim

    2014-10-01

    Legionnaires' disease is an important cause of community-acquired and hospital-acquired pneumonia. Although uncommon, Legionnaires' disease continues to cause disease outbreaks of public health significance. The disease is caused by any species of the Gram-negative aerobic bacteria belonging to the genus Legionella; Legionella pneumophila serogroup 1 is the causative agent of most cases in Europe. In this Review we outline the global epidemiology of Legionnaires' disease, summarise its diagnosis and management, and identify research gaps and priorities. Early clinical diagnosis and prompt initiation of appropriate antibiotics for Legionella spp in all patients with community-acquired or hospital-acquired pneumonias is a crucial measure for management of the disease. Progress in typing and sequencing technologies might additionally contribute to understanding the distribution and natural history of Legionnaires' disease, and inform outbreak investigations. Control of Legionnaires' disease outbreaks relies on rapid ascertainment of descriptive epidemiological data, combined with microbiological information to identify the source and implement control measures. Further research is required to define the actual burden of disease, factors that influence susceptibility, key sources of infection, and differences in virulence between strains of Legionella species. Other requirements are improved, specific, sensitive, and rapid diagnostic tests to accurately inform management of Legionnaires' disease, and controlled clinical trials to ascertain the optimum antibiotics for treatment. PMID:24970283

  11. A 1:1 pharmaceutical cocrystal of myricetin in combination with uncommon piracetam conformer: X-ray single crystal analysis and mechanochemical synthesis

    NASA Astrophysics Data System (ADS)

    Sowa, Micha?; ?lepokura, Katarzyna; Matczak-Jon, Ewa

    2014-01-01

    Combination of two Active Pharmaceutical Ingredients, myricetin and piracetam, yields a 1:1 cocrystal characterized by X-ray single-crystal and powder diffraction, Raman spectroscopy, 1H NMR, thermal analysis (DSC and TG-DTA) methods. Constituents of the cocrystalline phase were also investigated in terms of Hirshfeld surfaces. Compounds in their neutral forms cocrystallize in the Pna21 space group of orthorhombic system. Notably, piracetam adopts an uncommon conformation, not encountered in its cocrystals previously described. In the crystal lattice, a three-dimensional hydrogen-bonded network is observed, including formation of a 2D molecular scaffolding motif. A scale-up procedure is readily available with use of solvent-drop grinding method, in which application of a variety of common solvents leads to formation of the cocrystal, as confirmed by XRPD and Raman spectroscopy.

  12. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder

    PubMed Central

    Jaiswal, Pooja; Bhasker, Nilam; Kushwaha, Rashmi

    2015-01-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder. PMID:26816903

  13. Discrepancy in MALDI-TOF MS identification of uncommon Gram-negative bacteria from lower respiratory secretions in patients with cystic fibrosis

    PubMed Central

    AbdulWahab, Atqah; Taj-Aldeen, Saad J; Ibrahim, Emad Bashir; Talaq, Eman; Abu-Madi, Marawan; Fotedar, Rashmi

    2015-01-01

    Introduction Early identification of microbial organisms from respiratory secretions of patients with cystic fibrosis (CF) is important to guide therapeutic decisions. The objective was to compare the accuracy of matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) relative to the conventional phenotypic method in identifying common bacterial isolates, including nonfermenting Gram-negative bacteria, in a cohort of patients with CF. Methods A total of 123 isolates from 50 patients with CF representing 14 bacterial species from respiratory specimens were identified using MALDI-TOF MS in parallel with conventional phenotypic methods. Discrepancies were confirmed by 16S ribosomal RNA (rRNA) gene sequencing in five Gram-negative isolates. Results The MALDI-TOF MS managed to identify 122/123 (99.2%) bacterial isolates to the genus level and 118/123 (95.9%) were identified to the species level. The MALDI-TOF MS results were 100% consistent to the species level with conventional phenotypic identification for isolates of Staphylococcus aureus, Pseudomonas aeruginosa, Haemophilus influenzae, Streptococcus pyogenes, Achromobacter xylosoxidans, Stenotrophomonas maltophilia, and other uncommon organisms such as Chryseobacterium gleum and Enterobacter cloacae. The 5/123 (4.6%) isolates misidentified were all Gram-negative bacteria. The isolation of E. cloacae and Haemophilus paraphrohaemolyticus may extend the potentially pathogenic list of organisms isolated from patients with CF. Conclusion Although the technique provides an early identification and antimicrobial therapy approach in patients with CF, limitation in the diagnosis of uncommon Gram-negative bacteria may exist. PMID:25995646

  14. Beneath the Copper-Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review.

    PubMed

    Rosencrantz, Richard A; LeCompte, Lesli; Yusuf, Yasmin

    2015-11-01

    Primary hepatic malignancies are uncommon in pediatrics. Tumors such as hepatocellular carcinoma (HCC) develop typically in the setting of chronic liver disease. The incidence of HCC in Wilson's disease-related cirrhosis is disproportionately lower than in many other forms of end-stage liver disease. A preadolescent girl presented with Wilson's disease cirrhosis and a HCC requiring orthotopic liver transplantation. This case highlights the need to consider hepatic malignancies even in young Wilson's disease patients. Pediatric Wilson's disease and the hepatic tumor literature are reviewed. PMID:26676818

  15. Anti-GBM Disease in Pregnancy

    PubMed Central

    Adnan, Mohammed Muqeet; Morton, Jordan; Hashmi, Syed; Abdul Mujeeb, Sufyan; Kern, William; Cowley, Benjamin D.

    2015-01-01

    Antiglomerular basement membrane (GBM) disease presenting during pregnancy is uncommon. We present a case of a pregnant female who presented with acute renal failure requiring dialysis due to anti-GBM disease. She responded well to plasma exchange, high-dose steroids, and hemodialysis. Cyclophosphamide was discussed but not given at the patients request due to concerns for the well-being of the fetus. Unfortunately, she suffered a spontaneous abortion in her eighth week of pregnancy. Subsequently, she had progressive improvement in her renal function and became hemodialysis independent at 2 weeks after diagnosis. Her renal function returned to baseline 3 months after diagnosis. We present this case in detail and review the literature regarding anti-GBM disease in pregnancy. PMID:26788531

  16. Rosai-Dorfman disease of the pericardium: a case report and review of literature

    PubMed Central

    Lao, I-Weng; Dong, Yun; Wang, Jian

    2014-01-01

    Rosai-Dorfman disease (RDD) is an uncommon histiocytic disease of unknown etiology. It typically presents as massive lymphadenopathy with a predilection for the cervical lymph nodes of children and young adults. However, extranodal involvement is not uncommon and may cause confusion with other neoplasms or reactive disease. We describe here a unique case of extranodal RDD manifesting as a pericardial mass in a 69-year-old man. The lesion was detected by computed tomography during a periodic examination of the chest. Subsequently positron emission tomography scan showed mild increase of flurodeoxyglucose uptake. Clinically, it was supposed to be a mesothelioma. Histological examination showed the typical features of RDD confirmed by the staining of S100 protein, which highlighted the emperipolesis of the characteristic histiocytes. To the best of our knowledge, pericardial RDD represents an extremely rare condition and should be included in the differential diagnosis of pericardial neoplasms. PMID:25031768

  17. Biliary cystic disease.

    PubMed

    Lipsett, Pamela A; Locke, Jayme E

    2006-04-01

    Biliary cystic disease, though uncommon, can present at a wide range of ages with a wide range of symptoms. Choledochal cysts are associated with the development of both cholangiocarcinoma and gallbladder cancer. Thus, most biliary cystic disease is best managed operatively. Many factors should be considered when performing surgery on patients with choledochal cysts, including age, presenting symptoms, cyst type, associated biliary stones, prior biliary surgery, intrahepatic strictures, hepatic atrophy/hypertrophy, biliary cirrhosis, portal hypertension, and associated biliary malignancy. When feasible, surgical treatment should consist of cholecystectomy and complete surgical excision of extrahepatic cysts with Roux-en-Y reconstruction. Because the risk of recurrent cholangitis is significant and additional symptoms and problems are common, the use of long-term soft Silastic biliary stents (Dow Corning Corp., Midland, MI) should be considered when complex intrahepatic and extrahepatic cystic disease is present. Alternatively, the Roux-en-Y jejunal limb can be marked at the fascia for future percutaneous access. Reconstruction via hepaticoduodenostomy and jejunal interposition has been associated with increased postoperative pain due to bile reflux gastritis. Thus, hepaticojejunostomy reconstruction is recommended. For choledochal cysts involving the distal bile duct, the bile duct should be excised at the intrapancreatic portion. Resection of the pancreatic head should be reserved for patients with established malignancies. Surgical excision of the intrahepatic portion of the bile duct should be individualized to include preservation of hepatic parenchyma when the liver is not cirrhotic. If cirrhosis is advanced, hepatic transplantation may be indicated, but this is rare. Oncologic principles should be followed in the presence of a malignancy. Lifelong follow-up is required because of the possibility of a "field" defect increasing susceptibility to cancer throughout the biliary tract epithelium. PMID:16539871

  18. The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.

    PubMed

    Giacomazzi, Juliana; Correia, Rudinei Luis; Palmero, Edenir Ines; Gaspar, Jorge Francisco; Almeida, Marta; Portela, Catarina; Camey, Suzi Alves; Monteiro, Augusta; Pinheiro, Manuela; Peixoto, Ana; Teixeira, Manuel R; Reis, Rui Manuel; Ashton-Prolla, Patricia

    2014-01-01

    Since the first studies reporting the TP53 p.R337H mutation as founder mutation in Southern and Southeastern Brazil, there has been controversy on its origin. Preliminary analysis of a small subset of Brazilian mutation carriers revealed that the haplotype incided on a Caucasian background. The vast majority of carriers identified today reside in Brazil or, if identified in other countries, are Brazilian immigrants. To our knowledge, the only two exceptions of carriers without a recognizable link with Brazil are two European families, from Portugal and Germany. Haplotype analysis in the Portuguese family revealed the same haplotype identified in Brazilian individuals, but in the German family, a distinct haplotype was found. Knowing that a significant proportion of women with breast cancer (BC) in Southern Brazil are p.R337H carriers, we analyzed p.R337H in a Portuguese cohort of women diagnosed with this disease. Median age at diagnosis among the first 573 patients tested was 60 years and 100 (17.4%) patients had been diagnosed at or under the age of 45 years. Mutation screening failed to identify the mutation in the 573 patients tested. These results are in contrast with the mutation frequency observed in a study including 815 BC-affected women from Brazil, in which carrier frequencies of 12.1 and 5.1% in pre- and postmenopausal women were observed, respectively. These findings suggest that the Brazilian founder mutation p.R337H, the most frequent germline TP53 mutation reported to date, is not a common germline alteration in Portuguese women diagnosed with BC. PMID:25052705

  19. Addison's disease as a presentation of metastatic malignant melanoma.

    PubMed

    Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

    2016-01-01

    Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease. PMID:26688417

  20. Anaesthetic management of a parturient with moyamoya disease.

    PubMed

    Dutta, B; Dehran, M; Sinha, R

    2011-06-01

    Moyamoya disease is an uncommon progressive cerebral vasculopathy that is more frequently seen in the Asian population. It has been described sporadically in other parts of the world. Proper knowledge of the pathophysiology and institution of appropriate perioperative measures improves patient prognosis. We report a case of moyamoya disease for emergency Caesarean section at 37 weeks of gestation. Epidural anaesthesia was administered using 0.5 percent bupivacaine and 50 ?g fentanyl. A stable haemodynamic state was maintained using left lateral uterine displacement, intravenous crystalloids and ephedrine boluses. The patient suffered no neurological deficit and was discharged with a healthy baby four days after the surgery. PMID:21731978

  1. Utility of Noninvasive Markers of Fibrosis in Cholestatic Liver Diseases.

    PubMed

    Corpechot, Christophe

    2016-02-01

    Methods of liver fibrosis assessment have changed considerably in the last 20years, and noninvasive markers now have been recognized as major first-line tools in the management of patients with chronic viral hepatitis infection. But what about the efficiency and utility of these surrogate indices for the more uncommon chronic cholestatic liver diseases, namely primary biliary cirrhosis and primary sclerosing cholangitis? This article provides clinicians with a global overview of what is currently known in the field. Both diagnostic and prognostic aspects of noninvasive markers of fibrosis in cholestatic liver diseases are presented and discussed. PMID:26593296

  2. Primary amyloidosis mimicking Crohns disease: a case report

    PubMed Central

    Wang, Ziwei; Huang, Chaoyang; Ji, Feng

    2015-01-01

    Amyloidosis is an uncommon disease that results from the extracellular deposition of abnormal fibrillary protein. This paper reports a case of primary amyloidosis with predominant involvement of the gastrointestinal tract and heart as a mimicker of Crohns disease in a sixty-seven years old man admitted with repeated diarrhea and fatigue. This patient poorly responded to 5-aminosalicylic acid and quickly developed dyspnea and hypotension. The further laboratory test revealed a monoclonal protein detected by serum protein electrophoresis. Biopsy of abdominal wall fat pad revealed amyloid substance deposited and positive Congo red staining, which was diagnosed as primary amyloidosis. PMID:26629126

  3. Myocardial infarction in a 35-day-old infant with incomplete Kawasaki disease and chicken pox.

    PubMed

    Kossiva, Lydia; Papadopoulos, Marios; Lagona, Evangelia; Papadopoulos, George; Athanassaki, Corina

    2010-10-01

    Kawasaki disease is an acute febrile vasculitis of infancy and early childhood. It is uncommon in early infancy, because a significant proportion of these children do not meet the classical diagnostic criteria at this age. Infants younger than 6 months with persistent fever and some of the criteria of Kawasaki disease should always raise suspicion for Kawasaki disease early to avoid delayed diagnosis with severe cardiac complications. We present a 35-day-old infant with incomplete Kawasaki disease complicated with myocardial infarction during chicken pox. PMID:20633312

  4. Zinc absorption in inflammatory bowel disease

    SciTech Connect

    Valberg, L.S.; Flanagan, P.R.; Kertesz, A.; Bondy, D.C.

    1986-07-01

    Zinc absorption was measured in 29 patients with inflammatory bowel disease and a wide spectrum of disease activity to determine its relationship to disease activity, general nutritional state, and zinc status. Patients with severe disease requiring either supplementary oral or parenteral nutrition were excluded. The mean 65ZnCl2 absorption, in the patients, determined using a 65Zn and 51Cr stool-counting test, 45 +/- 17% (SD), was significantly lower than the values, 54 +/- 16%, in 30 healthy controls, P less than 0.05. Low 65ZnCl2 absorption was related to undernutrition, but not to disease activity in the absence of undernutrition or to zinc status estimated by leukocyte zinc measurements. Mean plasma zinc or leukocyte zinc concentrations in patients did not differ significantly from controls, and only two patients with moderate disease had leukocyte zinc values below the 5th percentile of normal. In another group of nine patients with inflammatory bowel disease of mild-to-moderate severity and minimal nutritional impairment, 65Zn absorption from an extrinsically labeled turkey test meal was 31 +/- 10% compared to 33 +/- 7% in 17 healthy controls, P greater than 0.1. Thus, impairment in 65ZnCl2 absorption in the patients selected for this study was only evident in undernourished persons with moderate or severe disease activity, but biochemical evidence of zinc deficiency was uncommon, and clinical features of zinc depletion were not encountered.

  5. Gum Disease

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Gum Disease KidsHealth > Teens > Diseases & Conditions > Mouth & Teeth > Gum ... which is both embarrassing and serious!). What Is Gum Disease? Gum disease is also known as periodontal ( ...

  6. Lentil Diseases

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Major lentil diseases around the world have been described and reviewed. The major diseases include Ascochyta blight, Fusarium wilt, Botrytis Gray Mold, Lentil rust, Stemphylium blight, Anthracnose, and virus diseases. The management practices for these diseases are also presented....

  7. Hirschsprung Disease

    MedlinePLUS

    ... to Expect Hirschsprung Disease KidsHealth > Parents > Diseases & Conditions > Digestive System > Hirschsprung Disease Print A A A Text Size ... For Kids For Parents MORE ON THIS TOPIC Digestive System Irritable Bowel Syndrome (IBS) Inflammatory Bowel Disease X- ...

  8. Pericardial Disease: Diagnosis and Management

    PubMed Central

    Khandaker, Masud H.; Espinosa, Raul E.; Nishimura, Rick A.; Sinak, Lawrence J.; Hayes, Sharonne N.; Melduni, Rowlens M.; Oh, Jae K.

    2010-01-01

    Pericardial diseases can present clinically as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis. Patients can subsequently develop chronic or recurrent pericarditis. Structural abnormalities including congenitally absent pericardium and pericardial cysts are usually asymptomatic and are uncommon. Clinicians are often faced with several diagnostic and management questions relating to the various pericardial syndromes: What are the diagnostic criteria for the vast array of pericardial diseases? Which diagnostic tools should be used? Who requires hospitalization and who can be treated as an outpatient? Which medical management strategies have the best evidence base? When should corticosteroids be used? When should surgical pericardiectomy be considered? To identify relevant literature, we searched PubMed and MEDLINE using the keywords diagnosis, treatment, management, acute pericarditis, relapsing or recurrent pericarditis, pericardial effusion, cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. Studies were selected on the basis of clinical relevance and the impact on clinical practice. This review represents the currently available evidence and the experiences from the pericardial clinic at our institution to help guide the clinician in answering difficult diagnostic and management questions on pericardial diseases. PMID:20511488

  9. Commentary: is Alzheimer's disease uniquely human?

    PubMed

    Finch, Caleb E; Austad, Steven N

    2015-02-01

    That Alzheimer's disease (AD) might be a human-specific disease was hypothesized by Rapoport in 1989. Apes and humans share an identical amyloid beta (A?) peptide amino acid sequence and accumulate considerable A? deposits after age 40 years, an age when amyloid plaques are uncommon in humans. Despite their early A? buildup, ape brains have not shown evidence dystrophic neurites near plaques. Aging great ape brains also have few neurofibrillary tangles, with one exception of 1 obese chimpanzee euthanized after a stroke who displayed abundant neurofibrillary tangles, but without the typical AD distribution. We discuss the need for more exacting evaluation of neuron density with age, and note husbandry issues that may allow great apes to live to greater ages. We remain reserved about expectations for fully developed AD-like pathology in the great apes of advanced ages and cautiously support Rapoport's hypothesis. PMID:25533426

  10. Commentary: is Alzheimer's disease uniquely human?

    PubMed Central

    Finch, Caleb E.; Austad, Steven N.

    2015-01-01

    That Alzheimer's disease (AD) might be a human-specific disease was hypothesized by Rapoport in 1989. Apes and humans share an identical amyloid beta (A?) peptide amino acid sequence and accumulate considerable A? deposits after age 40 years, an age when amyloid plaques are uncommon in humans. Despite their early A? buildup, ape brains have not shown evidence dystrophic neurites near plaques. Aging great ape brains also have few neurofibrillary tangles, with one exception of 1 obese chimpanzee euthanized after a stroke who displayed abundant neurofibrillary tangles, but without the typical AD distribution. We discuss the need for more exacting evaluation of neuron density with age, and note husbandry issues that may allow great apes to live to greater ages. We remain reserved about expectations for fully developed AD-like pathology in the great apes of advanced ages and cautiously support Rapoport's hypothesis. PMID:25533426

  11. Alzheimer's disease: an evolutionary approach.

    PubMed

    Bufill, Enric; Blesa, Rafael; August, Jordi

    2013-01-01

    Alzheimer's disease (AD) is a complex disease associated with advanced age whose causes are still not fully known. Approaching the disease from an evolutionary standpoint may help in understanding the root cause of human vulnerability to the disease. AD is very common in humans and extremely uncommon in other mammals, which suggests that the genetic changes underlying the alterations in cerebral structure or function that have taken place over the course of the evolution of the genus Homo have left specific neurons in the human brain particularly vulnerable to factors which trigger the disease. Most of the genes whose mutation leads to AD are involved in synaptic plasticity. Evidence has also been found relating AD to neuronal oxidative stress. Neurons in certain association areas of the human brain retain juvenile characteristics into adulthood, such as the increased expression of genes related to synaptic activity and plasticity, incomplete myelination and elevated aerobic metabolism, which can cause an increase in oxidative stress in these neurons. Oxidative stress can cause myelin breakdown and epigenetic changes in the promoter region of genes related to synaptic plasticity, reducing their expression. These changes may in some cases induce hyperphosphorylation of tau and ?-amyloid deposits, which are characteristic of AD. The adaptation of humans to the cognitive niche probably required an increase in synaptic plasticity and activity and neuronal metabolism in neurons in areas related to certain cognitive functions such as autobiographical memory, social interaction and planning. The cost of these changes may have been the brain's increased vulnerability to factors which can trigger AD. This vulnerability may have resulted from the evolutionary legacies that have occurred over the course of the evolution of the human brain, making AD a possible example of antagonistic pleiotropy. The evolutionary approach allows apparently unrelated data from different disciplines to be combined in a manner that may lead to an improved understanding of complex diseases such as Alzheimer's. PMID:23579031

  12. Evaluation of Epidemiological Cut-Off Values Indicates that Biocide Resistant Subpopulations Are Uncommon in Natural Isolates of Clinically-Relevant Microorganisms

    PubMed Central

    Morrissey, Ian; Oggioni, Marco Rinaldo; Knight, Daniel; Curiao, Tania; Coque, Teresa; Kalkanci, Ayse; Martinez, Jose Luis

    2014-01-01

    To date there are no clear criteria to determine whether a microbe is susceptible to biocides or not. As a starting point for distinguishing between wild-type and resistant organisms, we set out to determine the minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) distributions for four common biocides; triclosan, benzalkonium chloride, chlorhexidine and sodium hypochlorite for 3319 clinical isolates, with a particular focus on Staphylococcus aureus (N = 1635) and Salmonella spp. (N = 901) but also including Escherichia coli (N = 368), Candida albicans (N = 200), Klebsiella pneumoniae (N = 60), Enterobacter spp. (N = 54), Enterococcus faecium (N = 53), and Enterococcus faecalis (N = 56). From these data epidemiological cut-off values (ECOFFs) are proposed. As would be expected, MBCs were higher than MICs for all biocides. In most cases both values followed a normal distribution. Bimodal distributions, indicating the existence of biocide resistant subpopulations were observed for Enterobacter chlorhexidine susceptibility (both MICs and MBCs) and the susceptibility to triclosan of Enterobacter (MBC), E. coli (MBC and MIC) and S. aureus (MBC and MIC). There is a concern on the potential selection of antibiotic resistance by biocides. Our results indicate however that resistance to biocides and, hence any potential association with antibiotic resistance, is uncommon in natural populations of clinically relevant microorganisms. PMID:24466194

  13. Evaluation of epidemiological cut-off values indicates that biocide resistant subpopulations are uncommon in natural isolates of clinically-relevant microorganisms.

    PubMed

    Morrissey, Ian; Oggioni, Marco Rinaldo; Knight, Daniel; Curiao, Tania; Coque, Teresa; Kalkanci, Ayse; Martinez, Jose Luis

    2014-01-01

    To date there are no clear criteria to determine whether a microbe is susceptible to biocides or not. As a starting point for distinguishing between wild-type and resistant organisms, we set out to determine the minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) distributions for four common biocides; triclosan, benzalkonium chloride, chlorhexidine and sodium hypochlorite for 3319 clinical isolates, with a particular focus on Staphylococcus aureus (N = 1635) and Salmonella spp. (N = 901) but also including Escherichia coli (N = 368), Candida albicans (N = 200), Klebsiella pneumoniae (N = 60), Enterobacter spp. (N = 54), Enterococcus faecium (N = 53), and Enterococcus faecalis (N = 56). From these data epidemiological cut-off values (ECOFFs) are proposed. As would be expected, MBCs were higher than MICs for all biocides. In most cases both values followed a normal distribution. Bimodal distributions, indicating the existence of biocide resistant subpopulations were observed for Enterobacter chlorhexidine susceptibility (both MICs and MBCs) and the susceptibility to triclosan of Enterobacter (MBC), E. coli (MBC and MIC) and S. aureus (MBC and MIC). There is a concern on the potential selection of antibiotic resistance by biocides. Our results indicate however that resistance to biocides and, hence any potential association with antibiotic resistance, is uncommon in natural populations of clinically relevant microorganisms. PMID:24466194

  14. Revisiting Mednick’s Model on Creativity-Related Differences in Associative Hierarchies. Evidence for a Common Path to Uncommon Thought

    PubMed Central

    Benedek, Mathias; Neubauer, Aljoscha C

    2013-01-01

    Fifty years ago, Mednick [Psychological Review, 69 (1962) 220] proposed an elaborate model that aimed to explain how creative ideas are generated and why creative people are more likely to have creative ideas. The model assumes that creative people have flatter associative hierarchies and as a consequence can more fluently retrieve remote associative elements, which can be combined to form creative ideas. This study aimed at revisiting Mednick’s model and providing an extensive test of its hypotheses. A continuous free association task was employed and association performance was compared between groups high and low in creativity, as defined by divergent thinking ability and self-report measures. We found that associative hierarchies do not differ between low and high creative people, but creative people showed higher associative fluency and more uncommon responses. This suggests that creativity may not be related to a special organization of associative memory, but rather to a more effective way of accessing its contents. The findings add to the evidence associating creativity with highly adaptive executive functioning. PMID:24532853

  15. Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression

    PubMed Central

    Tzeng, Jung-Ying; Zhang, Daowen; Pongpanich, Monnat; Smith, Chris; McCarthy, Mark I.; Sale, Michèle M.; Worrall, Bradford B.; Hsu, Fang-Chi; Thomas, Duncan C.; Sullivan, Patrick F.

    2011-01-01

    Genomic association analyses of complex traits demand statistical tools that are capable of detecting small effects of common and rare variants and modeling complex interaction effects and yet are computationally feasible. In this work, we introduce a similarity-based regression method for assessing the main genetic and interaction effects of a group of markers on quantitative traits. The method uses genetic similarity to aggregate information from multiple polymorphic sites and integrates adaptive weights that depend on allele frequencies to accomodate common and uncommon variants. Collapsing information at the similarity level instead of the genotype level avoids canceling signals that have the opposite etiological effects and is applicable to any class of genetic variants without the need for dichotomizing the allele types. To assess gene-trait associations, we regress trait similarities for pairs of unrelated individuals on their genetic similarities and assess association by using a score test whose limiting distribution is derived in this work. The proposed regression framework allows for covariates, has the capacity to model both main and interaction effects, can be applied to a mixture of different polymorphism types, and is computationally efficient. These features make it an ideal tool for evaluating associations between phenotype and marker sets defined by linkage disequilibrium (LD) blocks, genes, or pathways in whole-genome analysis. PMID:21835306

  16. Genomic characterization and molecular investigation of VP7 epitopes of uncommon G10P[8] group A rotavirus strains detected in Italy in 2009.

    PubMed

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Rotavirus strains with the uncommon genotype G10 have been detected sporadically in cases of acute gastroenteritis in humans and are thought to be transmitted zoonotically. During 2009, 10 G10P[8] rotavirus strains were detected in the stools of children hospitalized with acute diarrhoea in several paediatric hospitals in Italy. The phylogenetic analysis of the VP7 gene of the Italian G10P[8] strains analysed revealed nucleotide identities ranging from 94 to 99?%. Molecular characterization of the 11 genomic segments was performed for one of the G10 strains, which displayed a complete genomic constellation 1 for the non-G genes. The analysis of the deduced amino acid sequences of the G10 VP7 epitopes revealed low amino acid identity with common human strains of different G genotype and with the VP7 proteins included in both anti-rotavirus commercial vaccines (Rotarix and RotaTeq). Amongst the common G genotypes, the VP7 amino acid sequence of the G10 strains showed a high similarity with sequences from G9 strains. A hydrophobic cluster analysis (HCA) of the VP7 protein including aa?20-298 was performed for the G10 Italian sequences in comparison with the major human group A rotavirus G genotypes. The HCA analysis confirmed the findings obtained previously by amino acid analysis of the VP7 epitopes, detecting a genotype-specific pattern of hydrophobicity in the hypervariable regions of the major outer capsid protein. PMID:25783473

  17. [Uncommon indications for coronary angioplasty].

    PubMed

    Vojcek, J; Krupicka, P; Aschermann, M; Holm, F; Humhal, J

    1993-07-01

    During the period between March 16, 1989 and October 7, 1992 at the Second Medical Clinic of the First Medical Faculty, Charles University Prague a total of 173 coronary angioplasties were performed. With expanding experience and greater availability of controllable super thin conductors and balloon catheters with a small profile, gradually the indication criteria of coronary angioplasty were extended. In 93.1% of patients simple balloon dilatation of a significant stenosis of the coronary arteries was performed and in 6.9% before dilatation in addition an attempt of recanalization of a chronic occlusion of the coronary artery was made. In 74% of the patients one coronary stenosis was dilated, in 16.7% several stenoses, in 1.2% of the patients a covered stenosis of the trunk of the left coronary was dilated and in the same number an aortocoronary bypass was performed. Even in the group of patients where only one coronary stenosis was dilated the type B coronary affection according to the classification ACC/AHA predominated and the same applied to the entire group of patients. PMID:8372458

  18. Uncommon commentaries [on energy subjects

    SciTech Connect

    1998-04-01

    Comments from several individuals are given on cogeneration expansion (Lindsay Audin); electric power system reliability in a deregulated market (Marija D. Ilic, MIT and Leonard S. Hyman, Salomon Smith Barney); demand size management (Robert J. Bradley, Jr., Cato Institute); and new questions about the competitive electric power market (Mike Sherman, Peregrine Energy Group).

  19. An uncommonly common: Glossopharyngeal neuralgia

    PubMed Central

    Singh, P. M.; Kaur, Manpreet; Trikha, Anjan

    2013-01-01

    Glossopharyngeal neuralgia is a relatively rare condition characterized by severe, paroxysmal episodes of pain localized to the external ear canal, the base of the tongue, the tonsil or the area beneath the angle of the jaw. This pain is many a times confused with Trigeminal Neuralgia and mistreated. There are various diagnostic and management dilemmas which are herein addressed in this review. PMID:23661955

  20. [Pheochromocytoma. Severe and uncommon presentations].

    PubMed

    Kanjaa, N; Khatouf, M; Elhijri, A; Harrandou, M; Azzouzi, A; Benerradi, H; Slaoui, A

    1999-04-01

    We report five cases of phaeochromocytoma in patients admitted for myocardial infarction, severe cardiac failure, with shock, stroke and ischaemic gangrene of a lower limb respectively. The pathophysiology of these events is discussed. Early surgery prevents visceral damage from massive release of catecholamines. PMID:10365210

  1. Five Uncommon but Useful Knots.

    ERIC Educational Resources Information Center

    Chisnall, Rob

    1997-01-01

    Describes five useful, little-known knots: mooring hitch for securing a line to a stump or post; highwayman's cutaway for securing canoe lines or horses' reins; taut-line hitch or midshipman's hitch for securing tent guys; and Hedden knot and C&F belay hitch, used by rock climbers and mountaineers, which combine in a simple rescue haul system. (SV)

  2. Uncommon Connections with Common Numerators

    ERIC Educational Resources Information Center

    Lesser, Lawrence M.; Guthrie, Joe A.

    2012-01-01

    Undergraduate students who are pre-service teachers need to make connections between the college mathematics they are learning and the pre-college mathematics they will be teaching. Spanning a broad range of undergraduate curricula, this article describes useful lesser-known connections, explorations, and original proofs involving fractions. In…

  3. Uncommon Connections with Common Numerators

    ERIC Educational Resources Information Center

    Lesser, Lawrence M.; Guthrie, Joe A.

    2012-01-01

    Undergraduate students who are pre-service teachers need to make connections between the college mathematics they are learning and the pre-college mathematics they will be teaching. Spanning a broad range of undergraduate curricula, this article describes useful lesser-known connections, explorations, and original proofs involving fractions. In

  4. Rare species occupy uncommon niches

    NASA Astrophysics Data System (ADS)

    Markham, John

    2014-08-01

    The fact that temperate grasslands often contain upwards of 30 vascular plant species per m2 yet these species seem to have relatively similar life histories and resource requirements has made explaining species coexistence in these communities a major focus of research. While the reduction of competition by disturbance has been a popular explanation for species coexistence, in tallgrass prairies any level of disturbance either has no effect, or decreases diversity, since it favors the dominant plants. Although there has long been speculation that grassland species could coexist by niche partitioning the concept received renewed interest when it was shown that soil hydrology could explain species coexistence. One aspect of community structure that has not been explained by niche partitioning is the rareness and commonness of species within communities. There are three classes of explanations for rareness: narrow habitat requirements, low competitive ability combined with frequency dependent fitness and, dispersal ability. However, evidence for these explanations tend to be anecdotal, focusing on particular species. Here I show that in tallgrass prairies common and rare species consistently occupy different parts of niche space, with rare species being restricted by the cover of common species and occupying the rare available niches.

  5. Rare species occupy uncommon niches.

    PubMed

    Markham, John

    2014-01-01

    The fact that temperate grasslands often contain upwards of 30 vascular plant species per m(2) yet these species seem to have relatively similar life histories and resource requirements has made explaining species coexistence in these communities a major focus of research. While the reduction of competition by disturbance has been a popular explanation for species coexistence, in tallgrass prairies any level of disturbance either has no effect, or decreases diversity, since it favors the dominant plants. Although there has long been speculation that grassland species could coexist by niche partitioning the concept received renewed interest when it was shown that soil hydrology could explain species coexistence. One aspect of community structure that has not been explained by niche partitioning is the rareness and commonness of species within communities. There are three classes of explanations for rareness: narrow habitat requirements, low competitive ability combined with frequency dependent fitness and, dispersal ability. However, evidence for these explanations tend to be anecdotal, focusing on particular species. Here I show that in tallgrass prairies common and rare species consistently occupy different parts of niche space, with rare species being restricted by the cover of common species and occupying the rare available niches. PMID:25110113

  6. Pigmented Bowen's disease of the penis and scrotum in a patient with AIDS.

    PubMed

    Al-Dawsari, Najla A; Raslan, Wasim; Dawamneh, M Fawaz

    2014-01-01

    Patients with HIV have higher risk of developing squamous cell carcinoma of the skin given the increased risk of HPV infection, which alters cell proliferation and apoptosis [1]. Pigmented Bowen's disease is an uncommon form of squamous cell carcinoma in-situ characterized by pigmented lesions that can clinically mimic superficial spreading melanoma, pigmented basal cell carcinoma, melanocytic nevus, Bowenoid papulosis, and seborrheic keratosis. PMID:24746300

  7. Ataxia in a chronic kidney disease patient on anti-tubercular therapy

    PubMed Central

    Pathania, D.; Phanish, M. K.; Vishal, J.; Kher, V.

    2016-01-01

    Isoniazid is the mainstay of anti-tubercular therapy. Used in isolation or in combination with other anti-tubercular drugs, it is generally well-tolerated. While hepatotoxicity and neurotoxicity are reported, significant neurotoxicity remains uncommon. In this report, we present a case of rare neurological complication secondary to anti-tubercular therapy in a patient with stage 5 chronic kidney disease. PMID:26937081

  8. Anemia resolved by thoracoscopic resection of a mediastinal mass: a case report of unicentric Castleman's disease.

    PubMed

    Suh, Jong Hui; Hong, Sook Hee; Jeong, Seong Cheol; Park, Chan Beom; Choi, Kuk Bin; Shin, Ok Ran; Choi, Si Young

    2015-07-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder that usually presents as a single or multiple mediastinal mass. In unicentric CD, constitutional symptoms are rare, but are curable with surgical resection. However, serious intraoperative bleeding often requires conversion to thoracotomy. We present a case of unicentric CD in a 25-year-old woman with anemia, who was successfully treated by thoracoscopic resection. We describe the clinical course from the initial presentation to diagnosis and surgical cure. PMID:26380750

  9. Coexistence of Takayasu Arteritis and Crohn's Disease in a Maltese Patient

    PubMed Central

    Caruana Galizia, John Paul; Cassar, Paul John

    2015-01-01

    Takayasu arteritis (TA) and Crohn's disease (CD) are uncommon chronic granulomatous disorders affecting the large arteries and the gastrointestinal tract, respectively. At least 40 occurrences of these two conditions in the same patient have been reported in the literature, raising the possibility of an association between them. We report the coexistence of TA and CD in a young Maltese patient and review the literature to discuss possible aetiological mechanisms that might explain this association. PMID:26839728

  10. Surgical management of localized Crohn's disease of the fourth part of the duodenum.

    PubMed

    Mozafar, M; Sobhiyeh, Mr; Tadayon, N; Khalegnejad Tabari, N; Bolouri, N

    2010-01-01

    Upper gastrointestinal tract (gastroduodenal) Crohn's disease (CD) is an uncommon condition, occurring in about 1-5% of all CD cases. Our case was an extremely rare manifestation of CD, who presented with distal duodenal obstruction. As preoperative diagnosis was not established he underwent segmental resection and end-to-end anastomosis. Postoperative small bowel fistulae were not observed, and there was no morbidity during the follow up period. There were no disturbances in digestive function. PMID:25197511

  11. Surgical Management of Localized Crohns Disease of the Fourth Part of the Duodenum

    PubMed Central

    Mozafar, M; Sobhiyeh, MR; Tadayon, N; Khalegnejad Tabari, N; Bolouri, N

    2010-01-01

    Upper gastrointestinal tract (gastroduodenal) Crohns disease (CD) is an uncommon condition, occurring in about 1-5% of all CD cases. Our case was an extremely rare manifestation of CD, who presented with distal duodenal obstruction. As preoperative diagnosis was not established he underwent segmental resection and end-to-end anastomosis. Postoperative small bowel fistulae were not observed, and there was no morbidity during the follow up period. There were no disturbances in digestive function. PMID:25197511

  12. Nutritional cerebellar degeneration, with comments on its relationship to Wernicke disease and alcoholism.

    PubMed

    Laureno, Robert

    2012-01-01

    Nutritional cerebellar degeneration occurs in alcoholism and other states that predispose to malnutrition, such as gastric bypass surgery. Gait ataxia is the principal clinical manifestation. Ataxia of the lower limbs is not uncommon, but upper extremity ataxia and nystagmus are rare. Atrophy of the anterior superior vermis is the primary pathological manifestation in established disease. Typically, the onset is subacute. This cerebellar disease is part of the spectrum of the Wernicke-Korsakoff syndrome, i.e. the cerebellar manifestation of Wernicke disease. It may occur with other lesions of Wernicke disease or in isolation. Rarely, with florid disease, lesions may be hemorrhagic. Active disease should be treated with thiamine in the same way that one treats Wernicke disease. Clinicopathologic correlation in this disease has provided the best evidence that the anterior superior vermis is important in coordinating bipedal locomotion. PMID:21827888

  13. Kawasaki disease

    SciTech Connect

    Shulman, S.T. )

    1987-01-01

    This book contains over 70 selections. Some of the titles are: Genetic analysis of Kawasaki disease; Late onset valvular dysfunction in Kawasaki disease; ischemic heart disease in Kawasaki disease; Evaluation of evidence related to streptococci in the etiology of Kawasaki disease; and Immune complexes and cytotoxicity.

  14. Kimura's Disease: A Rare Cause of Chronic Lymphadenopathy in a Child.

    PubMed

    Sneha, Latha Magatha; Nagarajan, Vinoth Ponnurangam; Karmegaraj, Balaganesh; Rao, Shalini; Manipriya, Ravindran; Scott, Julius Xavier

    2015-01-01

    Kimura's disease is an uncommon entity that affects adults, with a predilection for the Asian population. This may rarely be encountered in children, and the knowledge of this fact is essential to rule out the remote possibility of Kimura's disease in children with a slow-growing painless mass in the head and neck region. In this case report, we document this disease in an 8-year-old boy with a slow-growing swelling in the right posterior auricular region. PMID:26023299

  15. Kimura’s Disease: A Rare Cause of Chronic Lymphadenopathy in a Child

    PubMed Central

    SNEHA, Latha Magatha; NAGARAJAN, Vinoth Ponnurangam; KARMEGARAJ, Balaganesh; RAO, Shalini; MANIPRIYA, Ravindran; SCOTT, Julius Xavier

    2015-01-01

    Kimura’s disease is an uncommon entity that affects adults, with a predilection for the Asian population. This may rarely be encountered in children, and the knowledge of this fact is essential to rule out the remote possibility of Kimura’s disease in children with a slow-growing painless mass in the head and neck region. In this case report, we document this disease in an 8-year-old boy with a slow-growing swelling in the right posterior auricular region. PMID:26023299

  16. Lyme disease in the United Kingdom.

    PubMed

    Dubrey, Simon W; Bhatia, Ajay; Woodham, Sarah; Rakowicz, Wojtek

    2014-01-01

    Lyme disease, while still an uncommon disease in the UK, is on the increase. Case numbers have increased by 3.6-fold since 2001, with over 950 cases reported by the Health Protection Agency (HPA) in 2011, compared with less than 500 cases annually pre-2004. HPA indications of the true incidence are suggested to be closer to 3000 cases/year, of which around 82% of cases are indigenously acquired. Three genospecies, Borrelia burgdorferi sensu stricto, Borrelia afzelli and Borrelia garinii, represent the predominant pathogenic variants in the UK. Erythema migrans is the commonest manifestation, occurring in 60%-91% of cases. In the UK, neuroborelliosis is the most common complication, while myocarditis is unusual, and death from either conduction disease or carditis is extremely rare. The role of Borrelia infection in chronic dilated cardiomyopathy in the UK remains unproven. Controversy over the existence of either 'chronic Lyme disease' and/or 'post-Lyme disease syndrome' continues unabated. National medical societies, patient advocacy groups, insurance companies, lawyers, doctors, the private health medical sector and scientific journals have all become embroiled in this bitter controversy. New developments include diagnostic tests able to detect Lyme disease at an earlier stage, shorter durations of antibiotic therapy and potential advances in vaccines against Borrelia. PMID:24198341

  17. [Other systemic diseases in the elderly].

    PubMed

    L Thi Huong Du; Wechsler, Bertrand

    2002-10-01

    The prevalence of systemic diseases depends on patient age. One third to one half of the patients with Wegener's granulomatosis are over 60 years at the diagnosis. In the elderly, renal insufficiency, lymphopenia and central nervous system involvement are more frequent, and upper airways involvement and hemoptysis less frequent. Signs suggestive of temporal arteritis may initiate the disease. Mortality is increased in the elderly, and aging is an independent predictor of poor prognosis. Henoch-Schnlein purpura is uncommon in adulthood; one quarter of adult cases involves an elderly patient. End-stage renal failure and association with neoplasia are common. In some cases, synchronous course of purpura and neoplasia leads to consider it as a true paraneoplastic syndrome. Periarteritis nodosa in the elderly is characterized by an increased frequency of the association with viral B hepatitis and skin vasculitis. Histological location of necrotizing arteritis involving the temporal artery is possible. It should be considered as a borderline disease, and treated as the more severe disease. Aging is predictive of poor prognosis. Cholesterol emboli are a classic complication of atheroembolic disease and may mimic an inflammatory and multisystemic disease with renal, cardiac, pulmonary, digestive, neuropsychiatric, skin and muscle involvements due to ischemic phenomena leading to necrosis. One-year mortality is over 60% in the symptomatic forms. PMID:12486388

  18. Detection of Common, Emerging and Uncommon VP4, and VP7 Human Group A Rotavirus Genotypes from Urban Sewage Samples in Uruguay.

    PubMed

    Tort, Luis Fernando Lopez; Victoria, Matas; Lizasoain, Andrs; Garca, Mariana; Berois, Mabel; Cristina, Juan; Leite, Jos Paulo Gagliardi; Gmez, Mariela Martnez; Miagostovich, Marize Pereira; Colina, Rodney

    2015-12-01

    Environmental approach has proven to be a useful tool for epidemiological studies demonstrating through environmental studies the diversity of viruses circulating in a given population. The aim of this study was to perform a phylogenetic characterization of the group A rotavirus (RVA) glycoprotein (G)- and protease-sensitive (P)-genotypes obtained from sewage samples (n = 116) collected in six cities of Uruguay during March 2011 to April 2013. A worldwide standardized semi-nested multiplex RT-PCR (SNM RT-PCR) protocol directed against VP4 and VP7 genes were conducted for RVA detection and consensual DNA fragments were submitted to nucleotide sequencing. P and/or G genotype was successfully determined by phylogenetic analysis in 61% (n = 37) of the positive samples obtained by SNM RT-PCR (n = 61). The RVA genotypes were as follow: G1 (n = 2), G2 (n = 14), G3 (n = 5), G12 (n = 2), P[4] (n = 4), P[8] (n = 16), and P[3] (n = 2). Interestingly, through phylogenetic analysis, emerging, and uncommon human genotypes could be detected. Results obtained from the comparison of RVA genotypes detected in the current study and Uruguayan RVA strains previously described for contemporary clinical pediatric cases showed that monitoring sewage may be a good screening option for a rapid and economical overview of the circulating genotypes in the surrounding human population and a useful approximation to study RVA epidemiology in a future vaccine monitoring program. The present study represents the first report in Uruguay that describes the phylogenetic diversity of RVA from urban sewage samples. PMID:26267835

  19. Nutritional Status of Maintenance Dialysis Patients: Low Lean Body Mass Index and Obesity Are Common, Protein-Energy Wasting Is Uncommon

    PubMed Central

    Koefoed, Mette; Kromann, Charles Boy; Juliussen, Sophie Ryberg; Hvidtfeldt, Danni; Ekelund, Bo; Frandsen, Niels Erik; Marckmann, Peter

    2016-01-01

    Background and Aims Maintenance dialysis patients are at increased risk of abnormal nutritional status due to numerous causative factors, both nutritional and non-nutritional. The present study assessed the current prevalence of protein-energy wasting, low lean body mass index and obesity in maintenance dialysis patients, and compared different methods of nutritional assessment. Methods In a cross-sectional study conducted in 2014 at Roskilde Hospital, Denmark, we performed anthropometry (body weight, skinfolds, mid-arm, waist, and hip circumferences), and determined plasma albumin and normalized protein catabolic rate in order to assess the prevalence of protein-energy wasting, low lean body mass index and obesity in these patients. Results Seventy-nine eligible maintenance dialysis patients participated. The prevalence of protein-energy wasted patients was 4% (95% CI: 2–12) as assessed by the coexistence of low lean body mass index and low fat mass index. Low lean body mass index was seen in 32% (95% CI: 22–44). Obesity prevalence as assessed from fat mass index was 43% (95% CI: 32–55). Coexistence of low lean body mass index and obesity was seen in 10% (95% CI: 5–19). The prevalence of protein-energy wasting and obesity varied considerably, depending on nutritional assessment methodology. Conclusions Our data indicate that protein-energy wasting is uncommon, whereas low lean body mass index and obesity are frequent conditions among patients in maintenance dialysis. A focus on how to increase and preserve lean body mass in dialysis patients is suggested in the future. In order to clearly distinguish between shortage, sufficiency and abundance of protein and/or fat deposits in maintenance dialysis patients, we suggest the simple measurements of lean body mass index and fat mass index. PMID:26919440

  20. Wilson Disease

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Wilson Disease Information Page Table of Contents (click to ... Trials Organizations Additional resources from MedlinePlus What is Wilson Disease? Wilson disease (WD) is a rare inherited ...

  1. Alzheimer Disease

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry or ...

  2. Lyme Disease

    MedlinePLUS

    ... Is Lyme Disease? People get Lyme disease through tick bites. The disease is caused by a bacterium ... these infections do you worry about most? Ixodes ticks (also called black-legged or deer ticks) are ...

  3. Menkes Disease

    MedlinePLUS

    ... link in the menu on the left. Common Names Kinky hair disease Menkes disease Menkes syndrome Steely hair disease Medical or Scientific Names Congenital hypocupremia (pronounced kuhn-JEN-i-tl hahy- ...

  4. Legionnaires' Disease

    MedlinePLUS

    ... PDF. Home | Disease Recognition | Potential Disease Sources | Investigation Protocol | Outbreak Response eTools Home : Legionnaires' Disease Safety and Health Topic Page | Scope | FAQ | PDF | Credits Freedom of Information Act | Privacy & Security Statement | Disclaimers | Important Web Site Notices | International | Contact ...

  5. Alzheimer's Disease

    MedlinePLUS

    Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that ... higher if a family member has had the disease. No treatment can stop the disease. However, some ...

  6. Infectious Diseases

    MedlinePLUS

    Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living ... live NIH: National Institute of Allergy and Infectious Diseases

  7. Huntington's Disease

    MedlinePLUS

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting ...

  8. Alpers' Disease

    MedlinePLUS

    ... Disease? Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical ... by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one ...

  9. Crohn's Disease

    MedlinePLUS

    ... disease are very similar to those of ulcerative colitis , except that Crohn’s disease can happen anywhere along ... from the mouth to the anus , while ulcerative colitis is restricted to the colon . Crohn’s disease may ...

  10. Heart Disease

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Heart Disease KidsHealth > For Kids > Heart Disease Print A ... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the ...

  11. Alzheimer Disease

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  12. Celiac Disease

    MedlinePLUS

    ... who have celiac disease? In people who have celiac disease, gluten causes the immune system to attack the small ... on the small intestine that gluten causes in celiac disease. Symptoms of gluten sensitivity are generally milder than those seen in ...

  13. Wilson Disease

    MedlinePLUS

    ... Share External Link Disclaimer Digestive Diseases Wilson Disease Alternate Versions Wilson Disease (444 KB) You can also ... things psychosis—when a person loses contact with reality Other Signs and Symptoms Other signs and symptoms ...

  14. Hirschsprung Disease

    MedlinePLUS

    ... For Kids For Parents MORE ON THIS TOPIC Irritable Bowel Syndrome (IBS) Digestive System X-Ray Exam: Upper ... Bowel Disease Inflammatory Bowel Disease Your Digestive System Irritable Bowel Syndrome Upper GI (Video) Inflammatory Bowel Disease Digestive ...

  15. Heart Disease

    MedlinePLUS

    ... 2004, nearly 60 percent more women died of cardiovascular disease (both heart disease and stroke) than from all ... Program Director Heart Failure & Arrhythmias Branch Division of Cardiovascular Diseases National Heart, Lung, and Blood Institute Content last ...

  16. Kawasaki Disease

    MedlinePLUS

    ... him/her feel better? Should I tell my child’s school/daycare provider that he/she has Kawasaki disease? Could I get Kawasaki disease from my child? Source Kawasaki Disease by KA Taubert, ST Shulman ( ...

  17. Fabry's Disease

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fabry Disease Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Fabry Disease? Fabry disease is caused by the lack of ...

  18. Bladder Diseases

    MedlinePLUS

    ... frequent, urgent urination Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x- ... National Institute of Diabetes and Digestive and Kidney Diseases

  19. Meningococcal Disease

    MedlinePLUS

    ... A Hepatitis B HPV (Human Papillomavirus) Influenza (Flu) Measles Meningococcal Disease Mumps Pertussis (Whooping Cough) Pneumococcal Disease Rubella (German Measles) Shingles (Herpes Zoster) Tetanus (Lockjaw) Professional Resources Adult ...

  20. Chronic Granulomatous Disease

    PubMed Central

    Bortoletto, Pietro; Lyman, Kyle; Camacho, Andres; Fricchione, Marielle; Khanolkar, Aaruni

    2015-01-01

    Background: Chronic granulomatous disease (CGD) is an uncommon primary immunodeficiency that can be inherited in an X-linked (XL) or an autosomal recessive (AR) manner. We reviewed our large, single-center US experience with CGD. Methods: We reviewed 27 patients at Ann & Robert H. Lurie Childrens Hospital of Chicago from March 1985 to November 2013. Fisher exact test was used to compare differences in categorical variables, and Student t test was used to compare means for continuous variables. Serious infections were defined as those requiring intravenous antibiotics or hospitalization. Results: There were 23 males and 4 females; 19 were XL and 8 were AR. The average age at diagnosis was 3.0 years; 2.1 years for XL and 5.3 years for AR inheritance (P = 0.02). There were 128 serious infections. The most frequent infectious agents were Staphylococcus aureus (n = 13), Serratia (n = 11), Klebsiella (n = 7), Aspergillus (n = 6) and Burkholderia (n = 4). The most common serious infections were pneumonia (n = 38), abscess (n = 32) and lymphadenitis (n = 29). Thirteen patients had granulomatous complications. Five patients were below the 5th percentile for height and 4 were below the 5th percentile for weight. Average length of follow-up after diagnosis was 10.1 years. Twenty-four patients were compliant and maintained on interferon-?, trimethoprim-sulfamethoxazole and an azole. The serious infection rate was 0.62 per patient-year. Twenty-three patients are alive (1 was lost to follow-up). Conclusions: We present a large, single-center US experience with CGD. Twenty-three of 27 patients are alive after 3276 patient-months of follow-up (1 has been lost to follow-up), and our serious infection rate was 0.62 per patient-year. PMID:26181896

  1. Chronic liver disease in the human immunodeficiency virus patient.

    PubMed

    Acharya, Chathur; Dharel, Narayan; Sterling, Richard K

    2015-02-01

    There are an estimated 40 million HIV infected individuals worldwide, with chronic liver disease being the 2nd leading cause of mortality in this population. Elevated liver functions are commonly noted in HIV patients and the etiologies are varied. Viral hepatitis B and C, fatty liver and drug induced liver injury are more common. Treatment options for viral hepatitis C are rapidly evolving and are promising, but treatments are limited for the other conditions and is primarily supportive. Opportunistic infections of the liver are now uncommon. Irrespective of etiology, management requires referral to specialized centers and with due diligence mortality can be reduced. PMID:25454294

  2. Heart Diseases

    MedlinePLUS

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

  3. Huntington's Disease

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Huntington's Disease Information Page Condensed from Huntington's Disease: Hope Through ... en Español Additional resources from MedlinePlus What is Huntington's Disease? Huntington's disease (HD) is an inherited disorder that ...

  4. [Prion diseases].

    PubMed

    Stoĭda, N I; Zavalishin, I A

    2012-01-01

    Prion diseases are a family of progressive neurodegenerative disorders caused by prions. There are four human prion diseases: Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, fatal insomnia and Kuru. They can arise in three different ways: acquired, familial or sporadic. We review clinical presentations, pathophysiology, morphological picture, diagnostic procedures and available treatment options of prion diseases. PMID:23235426

  5. Newcastle disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Newcastle disease (ND), referred to as Exotic Newcastle disease (END) in the U. S., is an acute viral disease of domestic poultry and many other bird species and a recognized worldwide problem. Occurrence of END is due to an infection with virulent strains of Newcastle disease virus (NDV) and is a ...

  6. Epidemiology of Gallbladder Disease: Cholelithiasis and Cancer

    PubMed Central

    Stinton, Laura M.

    2012-01-01

    Diseases of the gallbladder are common and costly. The best epidemiological screening method to accurately determine point prevalence of gallstone disease is ultrasonography. Many risk factors for cholesterol gallstone formation are not modifiable such as ethnic background, increasing age, female gender and family history or genetics. Conversely, the modifiable risks for cholesterol gallstones are obesity, rapid weight loss and a sedentary lifestyle. The rising epidemic of obesity and the metabolic syndrome predicts an escalation of cholesterol gallstone frequency. Risk factors for biliary sludge include pregnancy, drugs like ceftiaxone, octreotide and thiazide diuretics, and total parenteral nutrition or fasting. Diseases like cirrhosis, chronic hemolysis and ileal Crohn's disease are risk factors for black pigment stones. Gallstone disease in childhood, once considered rare, has become increasingly recognized with similar risk factors as those in adults, particularly obesity. Gallbladder cancer is uncommon in developed countries. In the U.S., it accounts for only ~ 5,000 cases per year. Elsewhere, high incidence rates occur in North and South American Indians. Other than ethnicity and female gender, additional risk factors for gallbladder cancer include cholelithiasis, advancing age, chronic inflammatory conditions affecting the gallbladder, congenital biliary abnormalities, and diagnostic confusion over gallbladder polyps. PMID:22570746

  7. Inflammatory ascending aortic disease: perspectives from pathology.

    PubMed

    Maleszewski, Joseph J

    2015-02-01

    Inflammatory diseases of the aorta comprise a spectrum of disease with diverse clinical and histopathologic presentations. Broadly, they may be dichotomized into infectious and noninfectious varieties. Although uncommon, infectious forms, caused by bacteria, fungi, or mycobacteria, may result from hematogenous seeding of the aorta or direct spread from a contiguous infectious source. The noninfectious forms include a number of entities, the most common of which is atherosclerosis, a disease that primarily affects the aortic intima but has important secondary effects on the media and adventitia that may result in aneurysm formation. Other important noninfectious inflammatory diseases include giant cell arteritis, Takayasu arteritis, granulomatosis with polyangiitis (Wegener granulomatosis), sarcoidosis, and lymphoplasmacytic aortitis. Importantly, there is increasing recognition that there is a subset of cases of lymphoplasmacytic aortitis perhaps better classified under the spectrum of so-called IgG4-related sclerosing disease, with important clinical and therapeutic ramifications. This review focuses on the variable and defining characteristics of the inflammatory aortopathies, specifically those affecting the ascending aorta, and discusses areas of important clinical and pathological distinction between them. PMID:25199476

  8. Pregnancy and reproduction in autoimmune rheumatic diseases.

    PubMed

    Ostensen, Monika; Brucato, Antonio; Carp, Howard; Chambers, Christina; Dolhain, Radboud J E M; Doria, Andrea; Frger, Frauke; Gordon, Caroline; Hahn, Sinuhe; Khamashta, Munther; Lockshin, Michael D; Matucci-Cerinic, Marco; Meroni, Pierluigi; Nelson, J Lee; Parke, Ann; Petri, Michelle; Raio, Luigi; Ruiz-Irastorza, Guillermo; Silva, Clovis A; Tincani, Angela; Villiger, Peter M; Wunder, Dorothea; Cutolo, Maurizio

    2011-04-01

    Despite evidence for the important role of oestrogens in the aetiology and pathophysiology of chronic immune/inflammatory diseases, the previous view of an unequivocal beneficial effect of oestrogens on RA compared with a detrimental effect on SLE has to be reconsidered. Likewise, the long-held belief that RA remits in the majority of pregnant patients has been challenged, and shows that only half of the patients experience significant improvement when objective disease activity measurements are applied. Pregnancies in patients with SLE are mostly successful when well planned and monitored interdisciplinarily, whereas a small proportion of women with APS still have adverse pregnancy outcomes in spite of the standard treatment. New prospective studies indicate better outcomes for pregnancies in women with rare diseases such as SSc and vasculitis. Fertility problems are not uncommon in patients with rheumatic disease and need to be considered in both genders. Necessary therapy, shortly before or during the pregnancy, demands taking into account the health of both mother and fetus. Long-term effects of drugs on offspring exposed in utero or during lactation is a new area under study as well as late effects of maternal rheumatic disease on children. PMID:21097449

  9. Recombination and positive selection contributed to the evolution of Listeria monocytogenes lineages III and IV, two distinct and well supported uncommon L. monocytogenes lineages

    PubMed Central

    Tsai, Yeu-Harn Lucy; Maron, Steve B.; McGann, Patrick; Nightingale, Kendra K.; Wiedmann, Martin; Orsi, Renato H.

    2011-01-01

    Listeria monocytogenes lineages III and IV represent two uncommon lineages of the human and animal pathogen L. monocytogenes, characterized by occurrence of unusual phenotypic and genetic characteristics that differentiate them from the common lineages I and II. To gain further insights into the evolution of lineages III and IV, we amplified and sequenced housekeeping genes (i.e., gap, prs, purM, ribC, and sigB), internalin genes (i.e., inlA, inlB, inlC, inlG, inlC2, inlD, inlE, inlF, and inlH) and the virulence gene cluster containing prfA, plcA, hly, mpl, actA, and plcB for lineage III (n=7) and IV (n=4) isolates. Phylogenetic analyses of the sequences obtained along with previously reported sequence data for 40 isolates representing lineages I (n=18), II (n=21), and III (n=1), showed that lineages III and IV represent divergent and monophyletic lineages. The virulence gene cluster as well as the inlAB operon were present in all isolates, with inlF absent from all lineage III and IV isolates. While all lineage IV isolates contained only inlC (in addition to inlAB), lineage III isolates showed considerable diversity with regard to internalin gene presence, including presence of (i) only inlC (n=2), (ii) inlC and inlGC2DE (n=3), (iii) only inlGC2DE (n=2), and (iv) inlC and inlC2DE (n=1). In addition to evidence for horizontal gene transfer events, among lineage III and IV isolates, in prs, actA, plcB, mpl, inlA, inlB, inlG, inlD, and inlE, we also found significant evidence for positive selection in the hly promoter region and, along the lineage III and IV branches, for actA (including in sites recognized for interactions with proteins involved in actin tail polymerization). In conclusion, lineages III and IV represent two distinct monophyletic groups with contributions of intragenic recombination to the evolution of their internalin genes as well as contributions of positive selection to evolution of the virulence genes island. PMID:21854875

  10. Candida tropicalis in a neonatal intensive care unit: epidemiologic and molecular analysis of an outbreak of infection with an uncommon neonatal pathogen.

    PubMed

    Roilides, Emmanuel; Farmaki, Evangelia; Evdoridou, Joanna; Francesconi, Andrea; Kasai, Miki; Filioti, Joanna; Tsivitanidou, Maria; Sofianou, Danai; Kremenopoulos, George; Walsh, Thomas J

    2003-02-01

    From June to July 1998, two episodes of Candida tropicalis fungemia occurred in the Aristotle University neonatal intensive care unit (ICU). To investigate this uncommon event, a prospective study of fungal colonization and infection was conducted. From December 1998 to December 1999, surveillance cultures of the oral cavities and perinea of the 593 of the 781 neonates admitted to the neonatal ICU who were expected to stay for >7 days were performed. Potential environmental reservoirs and possible risk factors for acquisition of C. tropicalis were searched for. Molecular epidemiologic studies by two methods of restriction fragment length polymorphism analysis and two methods of random amplified polymorphic DNA analysis were performed. Seventy-two neonates were colonized by yeasts (12.1%), of which 30 were colonized by Candida albicans, 17 were colonized by C. tropicalis, and 5 were colonized by Candida parapsilosis. From December 1998 to December 1999, 10 cases of fungemia occurred; 6 were due to C. parapsilosis, 2 were due to C. tropicalis, 1 was due to Candida glabrata, and 1 was due to Trichosporon asahii (12.8/1,000 admissions). Fungemia occurred more frequently in colonized than in noncolonized neonates (P < 0.0001). Genetic analysis of 11 colonization isolates and the two late blood isolates of C. tropicalis demonstrated two genotypes. One blood isolate and nine colonization isolates belonged to a single type. The fungemia/colonization ratio of C. parapsilosis (3/5) was greater than that of C. tropicalis (2/17, P = 0.05), other non-C. albicans Candida spp. (1/11, P = 0.02), or C. albicans (0/27, P = 0.05). Extensive environmental cultures revealed no common source of C. tropicalis or C. parapsilosis. There was neither prophylactic use of azoles nor other risk factors found for acquisition of C. tropicalis except for total parenteral nutrition. A substantial risk of colonization by non-C. albicans Candida spp. in the neonatal ICU may lead to a preponderance of C. tropicalis as a significant cause of neonatal fungemia. PMID:12574275

  11. Averting the legacy of kidney disease-focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and chronic kidney disease in later childhood or in adult life. Children born early or who are small-for-date newborns have a relatively increased risk for the development of chronic kidney disease later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced chronic kidney disease in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy including dialysis and transplant, whereas only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers, and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26880442

  12. Clinical presentation of sickle cell-hemoglobin C disease.

    PubMed

    Williams, S; Maude, G H; Serjeant, G R

    1986-10-01

    Early symptoms were observed in a representative sample of 166 children with sickle cell-hemoglobin C disease diagnosed at birth. Symptoms were uncommon in the first year of life; in approximately 50% specific symptoms had developed by 5 years, but 22% remained without specific symptoms to 10 years. The age at presentation was significantly earlier in patients with low hemoglobin F levels, but was not influenced by heterozygous alpha-thalassemia-2. Painful crisis was the initial manifestation in 77% of the children; other symptoms included dactylitis (14%) and pneumococcal septicemia and acute splenic sequestration (4% each). The commonest nonspecific symptom was acute chest syndrome. The relatively mild early clinical course of sickle cell-hemoglobin C disease indicates that neonatal diagnosis does not have the same urgency as for homozygous sickle cell disease. PMID:3761071

  13. Eosinophil-Associated Lung Diseases. A Cry for Surfactant Proteins A and D Help?

    PubMed Central

    Ledford, Julie G.; Addison, Kenneth J.; Foster, Matthew W.

    2014-01-01

    Surfactant proteins (SP)-A and SP-D (SP-A/-D) play important roles in numerous eosinophil-dominated diseases, including asthma, allergic bronchopulmonary aspergillosis, and allergic rhinitis. In these settings, SP-A/-D have been shown to modulate eosinophil chemotaxis, inhibit eosinophil mediator release, and mediate macrophage clearance of apoptotic eosinophils. Dysregulation of SP-A/-D function in eosinophil-dominated diseases is also not uncommon. Alterations in serum SP-A/-D levels are associated with disease severity in allergic rhinitis and chronic obstructive pulmonary disease. Furthermore, oligimerization of SP-A/-D, necessary for their proper function, can be perturbed by reactive nitrogen species, which are increased in eosinophilic disease. In this review, we highlight the associations of eosinophilic lung diseases with SP-A and SP-D levels and functions. PMID:24960334

  14. Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist

    PubMed Central

    Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Rubn D.; Anaya, Juan-Manuel

    2012-01-01

    Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS). We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%). Autoimmune thyroid disease (AITD) and Sjgren's syndrome (SS) were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006September 2011). There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases. PMID:22454759

  15. Wilson Disease

    MedlinePLUS

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. ... extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, ...

  16. Alexander Disease

    MedlinePLUS

    ... be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, ...

  17. Crohn's Disease

    MedlinePLUS

    ... or prescribing new medications. [ Top ] Crohn's Disease and Colon Cancer People with Crohn's disease in the large intestine may be more likely to develop colon cancer. People who receive ongoing treatment and remain in ...

  18. Raynaud's Disease

    MedlinePLUS

    Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

  19. Endocrine Diseases

    MedlinePLUS

    ... low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond ... In the United States, the most common endocrine disease is diabetes. There are many others. They are ...

  20. Liver Diseases

    MedlinePLUS

    ... remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, ... the skin, can be one sign of liver disease. Cancer can affect the liver. You could also ...

  1. Addison Disease

    MedlinePLUS

    ... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  2. Legionnaires' Disease

    MedlinePLUS

    Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from ... spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes ...

  3. Fifth Disease

    MedlinePLUS

    Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

  4. Gaucher Disease

    MedlinePLUS

    Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. ... It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  5. Parasitic Diseases

    MedlinePLUS

    ... a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites ... be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies ...

  6. Chagas Disease

    MedlinePLUS

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. ... nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood ...

  7. Eye Diseases

    MedlinePLUS

    ... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

  8. Parkinson's Disease

    MedlinePLUS

    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  9. Meniere's Disease

    MedlinePLUS

    Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ... together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is ...

  10. Fungal Diseases

    MedlinePLUS

    ... the flu or tuberculosis. Some fungal diseases like fungal meningitis and bloodstream infections are less common than skin ... System Outbreaks Rhizopus Investigation CDC at Work Global fungal diseases Cryptococcal meningitis Histoplasmosis Antifungal Resistance Resources File Formats Help: How ...

  11. Huntington disease

    MedlinePLUS

    Huntington disease is a disorder in which nerve cells in certain parts of the brain waste away, or ... Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of DNA ...

  12. Celiac Disease

    MedlinePLUS

    ... immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small ...

  13. Heart Disease

    MedlinePLUS

    ... Digestive System How the Body Works Main Page Heart Disease KidsHealth > Kids > Health Problems of Grown-Ups > ... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the ...

  14. Heart Disease

    MedlinePLUS

    ... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ...

  15. Kidney Disease

    MedlinePLUS

    ... How Can I Help a Friend Who Cuts? Kidney Disease KidsHealth > For Teens > Kidney Disease Print A ... Syndrome Coping With Kidney Conditions What Do the Kidneys Do? You might never think much about some ...

  16. Hashimoto's Disease

    MedlinePLUS

    ... print versions from our online catalog. ? Additional Links Hypothyroidism Pregnancy and Thyroid Disease Thyroid Tests Find a ... disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the ...

  17. Parkinson disease

    MedlinePLUS

    Parkinson disease causes certain brain cells to die. These are the cells that help control movement and ... called dopamine to help control muscle movement. With Parkinson disease, the brain cells that make dopamine slowly ...

  18. Lyme Disease

    MedlinePLUS

    Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom ... Muscle and joint aches A stiff neck Fatigue Lyme disease can be hard to diagnose because you may ...

  19. Chagas disease

    MedlinePLUS

    Kirchhoff LV. Chagas' disease. In: Goldman L, Schafer AI, eds. Cecil Medicine . 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 355. Kirchhoff LV. Trypanosoma species (American trypanosomiasis, Chagas' disease): Biology ...

  20. Colonic Diseases

    MedlinePLUS

    ... where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some ... abdominal cramping and other symptoms Treatment for colonic diseases varies greatly depending on the disease and its ...

  1. Grover's Disease

    MedlinePLUS

    ... Rights Job Postings Sections of the JAOCD JAOCD Archive Published Members Online Dermatology Journals Edit This Favorite Name: Category: Share: Yes No, Keep Private Grover's Disease Share | Grover's disease (transient acantholytic dermatosis) ...

  2. Krabbe Disease

    MedlinePLUS

    ... NINDS Krabbe Disease Information Page Synonym(s): Globoid Cell Leukodystrophy Table of Contents (click to jump to sections) ... cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells ( ...

  3. Parkinson's Disease

    MedlinePLUS

    ... You may have seen the actor Michael J. Fox on TV talking about Parkinson's disease. He has ... and help find a cure. Mostly adults (like Fox and boxer Muhammad Ali) get Parkinson's disease. It's ...

  4. Fifth Disease

    MedlinePLUS

    ... Rash Parvovirus B19 and Other Illnesses References Fifth Disease Recommend on Facebook Tweet Share Compartir On this Page Signs & Symptoms Transmission Transmission Diagnosis Prevention & Treatment Fifth disease is a mild rash illness caused by parvovirus ...

  5. [Granulomatous pulmonary involvement preceding diagnosis of Crohn disease: a pediatric case report].

    PubMed

    Roblin, E; Pecciarini, N; Yantren, H; Dubois, R; Hameury, F; Bellon, G; Bouvier, R; Lachaux, A

    2010-09-01

    Crohn disease (CD) is a chronic bowel disorder that may affect many other organs such as the eyes, hepatobiliary system, skin, and joints. Pulmonary involvement in association with CD is a classic but uncommon manifestation. It can be primitive with granulomas or secondary to treatments. We report on the case of a teenager in whom the onset of CD was dominated by respiratory symptoms. Because of this presentation, we also suspected opportunistic infections such as tuberculosis and other granulomatous pulmonary diseases such as sarcoidosis or hypersensitivity pneumonitis. PMID:20709507

  6. Trinucleotide repeat expansion and neuropsychiatric disease.

    PubMed

    Margolis, R L; McInnis, M G; Rosenblatt, A; Ross, C A

    1999-11-01

    Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and the length becomes unstable. During the past decade, nearly 20 diseases-including Huntington disease, 2 forms of the fragile X syndrome, and myotonic dystrophy-caused by trinucleotide repeat expansions have been identified. The unstable nature of the expanded repeat leads to remarkable patterns of inheritance in these diseases, distinctly at odds with traditional notions of mendelian genetics. We review the clinical and genetic features of these disorders, with a particular emphasis on their psychiatric manifestations. We also critically examine the hypothesis that expansion mutations may have an etiologic role in psychiatric diseases such as bipolar disorder, schizophrenia, and autism. PMID:10565502

  7. The challenge of treating orphan disease.

    PubMed

    Dias, Carlos; Selmi, Carlo

    2014-12-01

    Uncommon or orphan diseases are less frequently addressed in mainstream medical journals and, as a consequence, their understanding and clinical recognition may rely on case series or anecdotal data with limited guidelines and management directions. The study of selected underrepresented autoimmune and allergy conditions is the subject of the present issue of Clinical Reviews in Allergy and Immunology to provide peculiar perspectives on common and rare themes. First, allergy remains a major concern for physicians worldwide despite the limited developments over the past years, particularly for antigens such as mite or Alternaria alternata, and due to the increasing incidence of drug hypersensitivity. Second, the female predominance of autoimmune diseases such as systemic sclerosis is well recognized but enigmatic, and a unifying hypothesis remains elusive. Third, the management of conditions triggered by infectious agents as in Guillain-Barre syndrome or mixed cryoglobulinemia is challenging, and clinical guidelines are needed in the setting of infections and autoimmunity. Fourth, gamma-delta T cells represent major players in innate immunity and are the subject of extensive studies in autoimmune diseases to provide new therapeutic targets for disease prevention or modulation in the near future. Ultimately, we acknowledge the major developments in the broad fields of rheumatology and immunology and expect that microbiota definition, epigenetics studies, and microRNA analysis will provide new exciting avenues toward the understanding and treatment of chronic and acute inflammation. PMID:25395247

  8. Early Diagnosis and Management of Acute Vertigo from Vestibular Migraine and Ménière's Disease.

    PubMed

    Seemungal, Barry; Kaski, Diego; Lopez-Escamez, Jose Antonio

    2015-08-01

    Vestibular migraine is the most common cause of acute episodic vestibular symptoms after benign paroxysmal positional vertigo. In contrast, Ménière's disease is an uncommon disorder. For both conditions, early and accurate diagnosis (or its exclusion) enables the correct management of patients with acute episodic vestibular symptoms. Long-term management of migraine requires changes in lifestyle to avoid triggers of migraine and/or prophylactic drugs if attacks become too frequent. The long-term management of Ménière's disease also involves lifestyle changes (low salt diet), medications (betahistine, steroids), and ablative therapy applied to the diseased ear (eg, intratympanic gentamicin). PMID:26231275

  9. Kyrle's disease

    PubMed Central

    Ataseven, Arzu; Ozturk, Perihan; Kucukosmanoglu, Iknur; Kurtipek, Gulcan Saylam

    2014-01-01

    Kyrle's disease (KD) is a dermatosis which was first described by Kyrle as hyperkeratosis follicularis et parafollicularis in cutem penetrans in 1916. Perforating dermatoses are a heterogeneous disorder group characterised by transepithelial elimination. KD has been seen in association with multiple disorders, including diabetes mellitus, renal and liver diseases, congestive heart failure, hyperlipidaemia, infective diseases and abnormal metabolism of vitamin A. This case report presents two patients with KD with associated systemic disease. PMID:24429045

  10. Lyme Disease.

    ERIC Educational Resources Information Center

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  11. Crinkle Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Crinkle disease of hop was first described in Europe in 1930, and subsequent reports of the disease appear in literature published in the 1960s and 1970s. The disease appears to be of little importance in most regions of hop production. A fastidious rickettsia-like organism (RLO) is thought to cau...

  12. Prostate Diseases

    MedlinePLUS

    ... our e-newsletter! Aging & Health A to Z Prostate Diseases Basic Facts & Information What are Prostate Diseases? The prostateone of the components of ... out anything serious. The Most Common Types of Prostate Diseases Benign prostatic hyperplasia (BPH) Prostatitis Prostate cancer ...

  13. Alzheimer's Disease

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Alzheimer's Disease Information Page Table of Contents (click to jump ... en Español Additional resources from MedlinePlus What is Alzheimer's Disease? Alzheimer's disease (AD) is an age-related, non- ...

  14. Alzheimer disease

    MedlinePLUS

    ... of brain function that occurs with certain diseases. Alzheimer disease (AD) is one form of dementia. It affects ... The exact cause of Alzheimer disease (AD) is not known. Research shows that certain changes in the brain lead to AD. You are more likely to ...

  15. Lyme Disease.

    ERIC Educational Resources Information Center

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public

  16. Meniere's Disease.

    ERIC Educational Resources Information Center

    Schessel, David A.

    1997-01-01

    Meniere's disease is characterized by unpredictable spells of severe vertigo and fluctuations in hearing and tinnitus. This article discusses the incidence of Meniere's disease, the present status of our understanding of this disease, controversies in its diagnosis, and the multiple therapeutic modalities recruited in its treatment. (Contains

  17. NEWCASTLE DISEASE

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Concise information about Newcastle disease (ND) is provided for a book that serves as a quick reference guide to the infectious, parasitic, metabolic, nutritional, and toxic diseases of domesticated animals and birds as well some exotic species that a veterinarian might encounter. Newcastle disease...

  18. Sandhoff Disease

    MedlinePLUS

    ... body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high ... gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans. NIH Patient Recruitment for ...

  19. Kawasaki disease.

    PubMed

    Sundel, Robert P

    2015-01-01

    Kawasaki disease (KD) is the archetypal pediatric vasculitis, exemplifying the unique aspects and challenges of vascular inflammation in children. The condition is almost unheard of in adults, is closely associated with infections, and is self-limited, with fever resolving after an average of 12 days even without treatment. Yet KD is also a potentially fatal disease and the most common cause of acquired heart disease in the developed world. Unraveling of the developmental, immunologic, and genetic secrets of Kawasaki disease promises to improve our understanding of vasculitis in particular, and perhaps also to provide a window on the fundamental mysteries of inflammatory diseases in general. PMID:25399940

  20. Addison's disease.

    PubMed

    Sarkar, Soumya Brata; Sarkar, Subrata; Ghosh, Supratim; Bandyopadhyay, Subhankar

    2012-10-01

    Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening crisis. In this case, several oral as well as systemic manifestation of the Addison's disease was encountered. PMID:23633816

  1. Prion diseases.

    PubMed

    Takada, Leonel T; Geschwind, Michael D

    2013-09-01

    Prion diseases are a group of diseases caused by abnormally conformed infectious proteins, called prions. They can be sporadic (Jakob-Creutzfeldt disease [JCD]), genetic (genetic JCD, Gerstmann-Sträussler-Scheinker, and familial fatal insomnia), or acquired (kuru, variant JCD, and iatrogenic JCD). The clinical features associated with each form of prion disease, the neuroimaging findings, cerebrospinal fluid markers, and neuropathological findings are reviewed. Sporadic JCD is the most common form of human prion disease, and will be discussed in detail. Genetic prion diseases are caused by mutations in the prion-related protein gene (PRNP), and they are classified based on the mutation, clinical phenotype, and neuropathological features. Acquired prion diseases fortunately are becoming rarer, as awareness of transmission risk has led to implementation of measures to prevent such occurrences, but continued surveillance is necessary to prevent future cases. Treatment and management issues are also discussed. PMID:24234356

  2. AIRTRAQ8 OPTICAL LARYNGOSCOPE FOR TRACHEAL INTUBATION IN A PATIENT WITH AN UNCOMMON GIANT LIPOMA ON THE POSTERIOR ASPECT OF NECK AND ADDITIONAL RISK FACTORS OF ANTICIPATED DIFFICULT AIRWAY: A CASE REPORT.

    PubMed

    Dimitriou, Vassilios; El Kouny, Amr; Al Harbi, Mohammed; Wambi, Freddie; Tawfeeq, Nasser; Tanweer, Aziz; Al Atassi, Abdulallem; Geldhof, Georges

    2015-10-01

    Patients with restricted neck movement present a difficult airway situation because of improper positioning and inadequate extension of the atlanto-occipital joint. The Airtraq optical laryngoscope is a new single use device that permits an indirect view of the glottis without the need to achieve a direct line of sight by conventional use of the 'sniffing position'. We present and discuss a case of uncommon giant lipoma (16 x 12 x 10 cm) in the posterior aspect of the neck in addition with other independent factors of anticipated difficult airway, intubated successfully in the semi-lateral position with the use of Airtraq. PMID:26860029

  3. [Social diseases, civilization diseases or lifestyle diseases?].

    PubMed

    Betlejewski, Stans?aw

    2007-01-01

    In general, the development of civilization is viewed as a positive step for the well-being of the human species, leading to an increased duration and quality of life. The accelerated progress of civilization (mainly industrialization, urbanization and nutrition) has lead to new possibilities for adverse effects on human health. In former high civilization--like old Egypt, Greece, Roman, Chinese, Indian, Maya civilizations--the "modem civilization diseases" were unknown. Modem science through improved sanitation, vaccination and antibiotics as well as improved social and economical conditions, has eliminated the threat of death from most infectious diseases. In the years after World War II the social, economic and health conditions changed. Most deaths have resulted from heart disease, stroke, cancer and other diseases as a result of an inappropriate relationship of people with their environment and changed lifestyle. Lifestyle diseases are different from other diseases because they are potentially preventable and can be lowered with changes in diet, lifestyle and environment. PMID:18350729

  4. [Histological diagnosis and complications of celiac disease. Update according to the new S2k guidelines].

    PubMed

    Aust, D E; Blker, H

    2015-03-01

    Celiac disease is a relatively common immunological systemic disease triggered by the protein gluten in genetically predisposed individuals. Classical symptoms like chronic diarrhea, steatorrhea, weight loss and growth retardation are nowadays relatively uncommon. Diagnostic workup includes serological tests for IgA antibodies against tissue transglutaminase2 (anti-TG2-IgA) and total IgA and histology of duodenal biopsies. Histomorphological classification should be done according to the modified Marsh-Oberhuber classification. Diagnosis of celiac disease should be based on serological, clinical, and histological findings. The only treatment is a life-long gluten-free diet. Unchanged or recurrent symptoms under gluten-free diet may indicate refractory celiac disease. Enteropathy-associated T-cell lymphoma and adenocarcinomas of the small intestine are known complications of celiac disease. PMID:25820446

  5. Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases

    PubMed Central

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  6. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.

    PubMed

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  7. Thoracic irradiation in Hodgkin's disease: Disease control and long-term complications

    SciTech Connect

    Tarbell, N.J.; Thompson, L.; Mauch, P. )

    1990-02-01

    A total of 590 patients with Stage IA-IIIB Hodgkin's disease received mantle irradiation at the Joint Center for Radiation Therapy between April 1969 and December 1984 as part of their initial treatment. Recurrence patterns as well as pulmonary, cardiac and thyroid complications were analyzed. Pulmonary recurrence was more frequently seen in patients with large mediastinal adenopathy (LMA); 11% of patients with LMA recurred in the lung in contrast to 3.1% with small or no mediastinal disease, p = 0.003. Hilar involvement, when corrected for size of mediastinal involvement, was not predictive of lung relapse. Patients with LMA also had a high rate of nodal relapse above the diaphragm (40%) following radiation therapy (RT) alone as compared to similarly treated patients with small or no mediastinal adenopathy (6.5%), p less than 0.0001. This risk of nodal recurrence was greatly reduced (4.7%) for LMA patients receiving combined radiation therapy and chemotherapy (CMT), p less than 0.0001. Sixty-seven patients (11%) with hilar or large mediastinal involvement received prophylactic, low dose, whole lung irradiation. No decrease in the frequency of lung recurrence was seen with the use of whole lung irradiation. Radiation pneumonitis was seen in 3% of patients receiving radiation therapy alone. In contrast, the use of whole lung irradiation was associated with a 15% risk of pneumonitis, p = 0.006. The risk of pneumonitis was also significantly increased with the use of chemotherapy (11%), p = 0.0001. Cardiac complications were uncommon with pericarditis being the most common complication (2.2%). Thyroid dysfunction was seen in 25% of patients and appeared to be age-related. These data suggest that the long-term complications of mantle irradiation are uncommon with the use of modern radiotherapeutic techniques.

  8. Infectious disease

    NASA Technical Reports Server (NTRS)

    Pierson, Duane L.

    1990-01-01

    This is a collection of viewgraphs on the Johnson Space Center's work on infectious disease. It addresses their major concern over outbreaks of infectious disease that could jeopardize the health, safety and/or performance of crew members engaged in long duration space missions. The Antarctic environment is seen as an analogous location on Earth and a good place to carry out such infectious disease studies and methods for proposed studies as suggested.

  9. [Alzheimer's disease].

    PubMed

    Yilmaz, U

    2015-05-01

    Alzheimer's disease is a progressive neurodegenerative disorder with characteristic neuropathological changes. It is the most common form of dementia. As a definitive diagnosis requires a neuropathological examination, clinical criteria have been established for the diagnostics of a probable Alzheimer's disease. In addition to the articles in this issue that focus on the imaging of dementia, this article provides a brief overview of clinically relevant aspects of Alzheimer's disease. PMID:25957008

  10. Borna disease.

    PubMed Central

    Hatalski, C. G.; Lewis, A. J.; Lipkin, W. I.

    1997-01-01

    Borna disease virus, a newly classified nonsegmented negative-strand RNA virus with international distribution, infects a broad range of warm-blooded animals from birds to primates. Infection causes movement and behavioral disturbances reminiscent of some neuropsychiatric syndromes. The virus has not been clearly linked to any human disease; however, an association between infection with the virus and selected neuropsychiatric disorders has been suggested. We reviewed recent advances in Borna disease virus research, focusing on evidence of infection in humans. PMID:9204293

  11. Gaucher Disease

    PubMed Central

    Nagral, Aabha

    2014-01-01

    Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms. Type 2 is a more severe neuronopathic form leading to mortality by 2 years of age. Definitive diagnosis is made by a blood test–the glucocerebrosidase assay. There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for mutations are useful for confirming diagnosis, screening family members and prognosticating the disease. A splenectomy should not be performed except for palliation or when there is no response to enzyme replacement treatment or no possibility of getting any definitive treatment. Splenectomy may worsen skeletal and lung manifestations in Gaucher disease. Enzyme replacement therapy (ERT) has completely revolutionized the prognosis and is now the standard of care for patients with this disease. Best results are seen in type 1 disease with good resolution of splenohepatomegaly, cytopenia and bone symptoms. Neurological symptoms in type 3 disease need supportive care. ERT is of no benefit in type 2 disease. Monitoring of patients on ERT involves evaluation of growth, blood counts, liver and spleen size and biomarkers such as chitotriosidase which reflect the disease burden. Therapy with ERT is very expensive and though patients in India have so far got the drug through a charitable access programme, there is a need for the government to facilitate access to treatment for this potentially curable disease. Bone marrow transplantation is an inferior option but may be considered when access to expensive ERT is not possible. PMID:25755533

  12. Hodgkin's disease

    SciTech Connect

    Portlock, C.S.

    1984-05-01

    The outlook for patients with Hodgkin's disease has improved dramatically over the past 20 years. The question is no longer whether cure is possible, but rather, how can cure be best achieved. With better understanding of the biology of Hodgkin's disease and with continued evolution of treatment approaches, the goal of curing all patients with Hodgkin's disease is clearly within reach. This article provides a summary of current concepts in the biology and management of Hodgkin's disease. Staging, treatment options, and complications of therapy are discussed.

  13. Secondary causes of nonalcoholic fatty liver disease

    PubMed Central

    Kneeman, Jacob M.; Misdraji, Joseph

    2012-01-01

    Nonalcoholic fatty liver disease (NAFLD) is becoming the most common cause of chronic liver disease in the developing world, found in 17-30% of the population in Western countries and 2-4% worldwide. Defined as the accumulation of fatty acid content greater than 5% of liver weight, NAFLD is a spectrum of disease ranging from simple steatosis to nonalcoholic steatohepatitis. The pathophysiology of NAFLD involves increased de novo synthesis of fatty acids in hepatocytes, the retention of lipids due to impaired hepatocyte apolipoprotein secretion or beta-oxidation. The well-known primary causes of NAFLD are obesity, type II diabetes, dyslipidemia, and insulin resistance. However, other less common conditions can cause a similar clinical and histologic picture, and should be considered in patients who present with NAFLD but do not have traditional risk factors. In this review, we discuss uncommon but important causes of NAFLD, including inborn errors of metabolism, iatrogenic causes, viral hepatitis, and nutritional disorders to provide practicing clinicians with an understanding of the less well recognized causes of NAFLD. PMID:22570680

  14. Autoimmune Hemolytic Anemia and Hodgkin's Disease: An Unusual Pediatric Association

    PubMed Central

    Gomes, Maria Miguel; Oliva, Tereza; Pinto, Armando

    2016-01-01

    Autoimmune hemolytic anemia (AIHA) is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin's disease (HD) is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. Warm immune hemolytic anemia is mainly controlled with steroids and chemotherapy. We report a case of a pediatric patient with direct antiglobulin positive test at the diagnosis of a late relapse of stage III B mixed cellularity type HD. PMID:26904342

  15. Autoimmune Hemolytic Anemia and Hodgkin's Disease: An Unusual Pediatric Association.

    PubMed

    Gomes, Maria Miguel; Oliva, Tereza; Pinto, Armando

    2016-01-01

    Autoimmune hemolytic anemia (AIHA) is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin's disease (HD) is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. Warm immune hemolytic anemia is mainly controlled with steroids and chemotherapy. We report a case of a pediatric patient with direct antiglobulin positive test at the diagnosis of a late relapse of stage III B mixed cellularity type HD. PMID:26904342

  16. Averting the Legacy of Kidney Disease - Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26930219

  17. Averting the Legacy of Kidney Disease - Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26895161

  18. Averting the legacy of kidney disease: focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26960419

  19. Averting the legacy of kidney disease - Focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26997373

  20. Hashimoto's Disease

    MedlinePLUS

    ... Dry, thinning hair Heavy menstrual flow or irregular periods Depression A slowed heart rate Problems getting pregnant Return to top Who gets Hashimoto's disease? Hashimoto's disease is about 7 times more common in women than in men. It can occur in teens ...

  1. Hodgkin Disease

    MedlinePLUS

    ... or bone marrow. The exact cause is unknown. Hodgkin disease is rare. Symptoms include Painless swelling of the lymph nodes in the neck, armpits, or groin Fever and chills Night sweats Weight loss Loss of appetite Itchy skin To diagnose Hodgkin disease, doctors use a physical exam and history, ...

  2. Cardiovascular Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular disease (CVD), particularly CHD (coronary heart disease) and stroke, remain the leading causes of death of women in America and most developed countries. In recent years the rate of CVD has declined in men but not in women. This is contributed to by an under-recognition of women’s C...

  3. Prion Diseases

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Prion diseases comprise a set of rare fatal neurological diseases found in humans and other mammals. A prion is a protein capable of converting a normal cellular protein (PrPC) into a prion and thereby propagating an infection. A prion and PrPC differ solely in their conformation. There are differen...

  4. Mycobacterial Diseases

    MedlinePLUS

    ... NIAID clinical studies on ClinicalTrials.gov . ​ Related Links Tuberculosis Leprosy (Hansen's Disease) National Library of Medicine, MedlinePlus ... coats that can be found throughout the world. Tuberculosis and leprosy (Hansen’s disease) are the best known ...

  5. Blount Disease

    MedlinePLUS

    ... need to have surgery. Many different types of surgeries can correct Blount disease some involve cutting the tibia, realigning it, and ... complete recovery. The Outlook Most teens who have surgery to correct Blount disease soon find themselves returning to all their normal ...

  6. Disease management

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Soilborne pathogens that cause root diseases spend most of their life cycle in or on the soil. Soil management decisions will influence the survival, growth of these pathogens and severity of disease. Many of the cultural methods that growers have relied on in the past to reduce the impact of the...

  7. Kidney Disease

    MedlinePLUS

    ... version of this page please turn Javascript on. Kidney Disease What is Kidney Disease? What the Kidneys Do Click for more information You have two ... damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced ...

  8. Buerger's Disease

    MedlinePLUS

    ... smoker. More recently, however, a higher percentage of women and people over the age of 50 have been recognized to have this disease. Buergers disease is most common in the Orient, Southeast Asia, India and the Middle East, but appears to be ...

  9. Celiac Disease

    MedlinePLUS

    ... can start eating gluten again. For someone with celiac disease, gluten will always irritate the intestines and, if this ... problems will return. If you're diagnosed with celiac disease, it can be a challenge to learn which foods contain gluten. You may not be able to remember them ...

  10. Peyronie's Disease

    MedlinePLUS

    ... Behcet’s syndrome––inflammation of the blood vessels Family History of Peyronie’s Disease Medical experts believe that Peyronie’s disease ... radiation and recorded on film or on a computer. The amount of radiation used is small. The ...

  11. Liver disease.

    PubMed

    2015-11-01

    Essential facts Liver disease is the fifth biggest killer in the UK and, according to the British Liver Trust, the only major cause of death still increasing year on year. NHS Choices says there are more than 100 different types of liver disease affecting at least two million people in the UK at any one time. PMID:26530565

  12. Sever's Disease

    MedlinePLUS

    ... causing the swelling, tenderness, and pain of Sever's disease. Such stress commonly results from physical activities and sports that ... and Joints Common Childhood Orthopedic Conditions Osgood-Schlatter Disease Problems With Legs and ... Injuries Contact Us Print Resources Send to a ...

  13. Newcastle disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The focus of this chapter, are viruses of avian paramyxovirus serotype-1 (APMV-1). All isolates of APMV-1 are of one serotype and are referred to as Newcastle disease viruses (NDV). Newcastle disease (ND) is caused only by infections with virulent isolates of APMV-1 (virulent NDV or vNDV). Virulent ...

  14. [Celiac disease].

    PubMed

    Malamut, Georgia; Cellier, Christophe

    2008-06-15

    Celiac disease is an enteropathy due to gluten intake in genetically predisposed persons (HLA DQ2/DQ8). Celiac disease occurs in adults and children at rates approaching 1% of population in Europe and USA. Clinical presentation of celiac disease is extremely varied. Anaemia, oral aphthous stomatis, amenorrhea or articular symptoms may reveal celiac disease. Diagnosis relies on evidence of duodenal villous atrophy and specific serum antibodies. Treatment relies on eviction of gluten (wheat, barley, rye). Gluten-free diet allows prevention of malignant complications and osteopenia. The main cause of resistance to gluten-free diet is its bad observance. On the contrary, serious complications of celiac disease, such as clonal refractory celiac sprue and intestinal T cell lymphoma need to be screen. PMID:18689116

  15. Gaucher disease

    PubMed Central

    Rizk, Tamer M.; Ariganjoye, Rafiu O.; Alsaeed, Gihad I.

    2015-01-01

    We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties. PMID:26166597

  16. Beryllium disease.

    PubMed Central

    Jones Williams, W.

    1988-01-01

    The increasing use of beryllium in a variety of industries continues to be a hazard. New cases are still being reported to the UK Beryllium Case Registry, now numbering 60 in the period 1945-1988. The majority of cases follow inhalation which results in acute beryllium disease (chemical pneumonitis) or more commonly chronic beryllium disease--a granulomatous pneumonitis. Granulomatous skin nodules also occur following local implantation. The clinical and radiological features are briefly described with the emphasis on pathology and immunology. Laser microprobe mass spectrometry analysis of tissue sections is a major advance in diagnosis. Detection of beryllium distinguishes the granulomas of chronic beryllium disease from other diseases, in particular sarcoidosis. The role of beryllium lymphocyte transformation tests is discussed. Chronic beryllium disease is steroid dependent and local excision of skin lesions appears to be curative. There is no evidence that beryllium is carcinogenic. Images Figure 1 PMID:3074283

  17. An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of infliximab.

    PubMed

    Firinu, D; Frau, A; Pisanu, M; Lorai, M M; Meleddu, R; Musu, F; Manconi, P E; Del Giacco, S R

    2012-01-01

    Autoimmune complications in the context of primary immunodeficiency diseases represent a well-known phenomenon, and this is widely recognized also for Selective Immunoglobulin A deficiency (IgAD), the most common primary antibody deficiency (PAD). Relapsing polychondritis (RP) is a rare immune-mediated, difficult to treat, disorder in which the cartilaginous tissues are the target for inflammation and damage. Ocular inflammatory manifestations in RP are frequent and often sight-threatening. Antiphospholipid syndrome (APS) is an acquired prothrombotic state related to circulating autoantibodies against phospholipids and/or their cofactors. Rare reports of APS associated to RP, PAD and APS or PAD and RP are available. PMID:23241130

  18. Models of marine molluscan diseases: Trends and challenges.

    PubMed

    Powell, Eric N; Hofmann, Eileen E

    2015-10-01

    Disease effects on host population dynamics and the transmission of pathogens between hosts are two important challenges for understanding how epizootics wax and wane and how disease influences host population dynamics. For the management of marine shellfish resources, marine diseases pose additional challenges in early intervention after the appearance of disease, management of the diseased population to limit a decline in host abundance, and application of measures to restrain that decline once it occurs. Mathematical models provide one approach for quantifying these effects and addressing the competing goals of managing the diseased population versus managing the disease. The majority of models for molluscan diseases fall into three categories distinguished by these competing goals. (1) Models that consider disease effects on the host population tend to focus on pathogen proliferation within the host. Many of the well-known molluscan diseases are pandemic, in that they routinely reach high prevalence rapidly over large geographic expanses, are characterized by transmission that does not depend upon a local source, and exert a significant influence on host population dynamics. Models focused on disease proliferation examine the influence of environmental change on host population metrics and provide a basis to better manage diseased stocks. Such models are readily adapted to questions of fishery management and habitat restoration. (2) Transmission models are designed to understand the mechanisms triggering epizootics, identify factors impeding epizootic development, and evaluate controls on the rate of disease spread over the host's range. Transmission models have been used extensively to study terrestrial diseases, yet little attention has been given to their potential for understanding the epidemiology of marine molluscan diseases. For management of diseases of wild stocks, transmission models open up a range of options, including the application of area management, manipulation of host abundance, and use of scavengers and filter feeders to limit the concentration of infective particles. (3) The details of host population processes and pathogen transmission dynamics are blended in models that evaluate the effects of natural selection and/or genetic modification in developing disease resistance in the host population. Application of gene-based models to marine diseases is only now beginning and represents a promising approach that may provide a mechanistic basis for managing marine diseases and their host populations. Overall disease models remain both uncommon and underutilized in addressing the needs for managing molluscan diseases and their host populations. PMID:26239016

  19. Oral verruciform xanthoma associated with chronic graft-versus-host disease: a report of five cases and a review of the literature.

    PubMed

    Shahrabi Farahani, Shokoufeh; Treister, Nathaniel S; Khan, Zainab; Woo, Sook-Bin

    2011-06-01

    Verruciform xanthoma (VX) is an uncommon benign inflammatory mucocutaneous condition that chiefly occurs in the oral cavity. It is often associated with pre-existing epithelial and/or inflammatory disorder and is characterized histopathologically by papillary epithelial hyperplasia and the presence of foamy macrophages in connective tissue papillae. We report of a series of five cases with VX who concurrently had chronic oral graft-versus-host disease following hematopoietic stem cell transplantation. PMID:21305367

  20. Lyme disease.

    PubMed

    Nat, Laura Bogdana; Simiti, Adriana Liana; Poanta, Laura Irina

    2014-01-01

    Lyme disease (Borreliosis), also called the "disease of 1000 faces", is produced by a bacterium called Borrelia burgdorferi, transmitted by the Ixodes tick. The clinical picture is non-specific and polymorph, with multisystemic involvement. Diagnosis is most often one of exclusion, and certain diagnosis is based on the presence of Borellia antibodies. The treatment is done differently depending on the stage of the disease and the severity of injuries, being used antibiotics like Doxycycline, Amoxicillin, Erythromycin or Penicillin. Under treatment the disease quickly heals without sequel, in the early stages, but advanced stages are usually resistant to treatment and chronic injuries can occur. Symptoms get worse without treatment and become chronic. We present the case of a woman of 66-year-old with a complex history of disease, which began one year prior to admission, through multiple and nonspecific symptoms; she presented herself in numerous medical services (gastroenterology, rheumatology--where an immunosuppressive treatment was initiated, hematology) without determining a final diagnosis. She was admitted in our service with altered general state and worsening symptoms, predominantly fever, muscle pain, joint pain, the patient being immobilized in bed. After multiple investigations and the problem of differential diagnosis with multiple pathologies, we finally established the diagnosis of Lyme disease. The peculiarities of the case are represented by the severity of the clinical manifestations and fulminant disease evolution under the unjustified administration of immunosuppressive treatment, and atypical joint involvement regarding localization and evolution that raised the issue of differential diagnosis with osteosarcoma or bone tuberculosis. PMID:25726630

  1. Parkinson's disease.

    PubMed Central

    Playfer, J. R.

    1997-01-01

    Parkinson's disease is a common disabling disease of old age. The diagnosis of idiopathic Parkinson's disease is based on clinical signs and has poor sensitivity, with about 25% of patients confidently diagnosed as having the disease actually having other conditions such as multi-system atrophy and other parkinsonism-plus syndromes. Benign essential tremor and arteriosclerotic pseudo-parkinsonism can easily be confused with Parkinson's disease. The cause of Parkinson's disease remains unknown. Speculative research highlights the role of oxidative stress and free radical mediated damage to dopaminergic cells. Parkinson's disease is the one neurodegenerative disorder in which drugs have been demonstrated to be of value. There is now a wide variety of drugs and formulations available, including anticholinergics, amantidine, L-dopa, dopamine agonists including apomorphine, selegiline and soon to be available catechol-O-methyltransferase inhibitors. Disabling side-effects of treatment, fluctuations, dyskinesias and psychiatric problems require strategic use of the drugs available. There is an increasing potential for neurosurgical intervention. PMID:9196696

  2. Kawasaki disease.

    PubMed

    Taubert, K A; Shulman, S T

    1999-06-01

    Kawasaki disease is a leading cause of acquired heart disease among children in the United States and other developed countries. Most children who contract this illness are less than two years old, and 80 percent of affected children are younger than five years of age. A generalized vasculitis of unknown etiology, Kawasaki disease can cause coronary artery abnormalities, including coronary aneurysms. From 20 to 25 percent of untreated children develop coronary artery abnormalities, which may resolve or persist. These abnormalities are of particular concern because they can lead to thrombosis, evolve into segmental stenosis or, rarely, rupture. The principal cause of death from Kawasaki disease is myocardial infarction. The cause of the disease remains unknown, but epidemiologic investigations and the clinical presentation suggest a microbial agent. Diagnostic criteria, including fever and other principal features, have been established. In the acute phase of the disease, treatment with acetylsalicylic acid and intravenously administered immunoglobulin is directed at reducing inflammation of the coronary arteries and myocardium. Early recognition and treatment of Kawasaki disease can reduce the development of potentially life-threatening coronary artery abnormalities. PMID:10392592

  3. Lyme disease.

    PubMed

    Kalish, R

    1993-05-01

    The clinical features of Lyme disease have been well documented since its description as a distinct clinical entity in 1975. A better understanding of the diversity of Borrelia strains and species that cause the disease as well as new insights into the immunology and pathogenesis of Lyme disease help explain some of the observed variations in clinical manifestations. The diagnosis of Lyme disease may be straightforward when patients in endemic areas present with typical clinical features; however, the diagnosis should be in doubt when the clinical picture is nonspecific or atypical, or a feasible exposure history cannot be obtained. Laboratory diagnosis is primarily based on serologic techniques, but interpretation of test results can be fraught with uncertainty. Treatment with appropriate antibiotics is successful in the majority of cases of Lyme disease. However, some patients may not respond, and in these cases multiple repeated courses are usually ineffective and unwarranted. More data are needed to determine the appropriate treatment of Lyme disease during pregnancy, and the appropriate management of ixodes tick bites. A suitable arthropod vector and a competent animal reservoir host are essential for perpetuating Lyme disease in a geographic location. The intricate ecologic forces at work are well understood in certain endemic areas but are poorly defined elsewhere, particularly where the disease is sporadic or its existence is in question. Prevention of Lyme disease is best achieved through education regarding avoidance of the tick vector. A vaccine using a recombinant form of the OspA protein of B. burgdorferi has been successful in animal models. Whether an effective human vaccine can be developed remains unknown. PMID:8502779

  4. Infectious bursal disease (Gumboro disease).

    PubMed

    van den Berg, T P; Eterradossi, N; Toquin, D; Meulemans, G

    2000-08-01

    Infectious bursal disease (IBD) (Gumboro disease) has been described throughout the world, and the socio-economic significance of the disease is considerable world-wide. Various forms of the disease have been described, but typing remains unclear, since antigenic and pathotypic criteria are used indiscriminately, and the true incidence of different types is difficult to determine. Moreover, the infection, when not fatal, leads to a degree of immunosuppression which is often difficult to measure. Finally, the control measures used are subject to variations, and seldom follow a specific or standardised plan. In the context of expanding international trade, the authors provide an overview of existing knowledge on the subject to enhance available information on the epidemiology of IBD, the identification of reliable viral markers for diagnosis, and the implementation of specific control measures to ensure a global and co-ordinated approach to the disease. PMID:10935278

  5. Cerebrovascular disease.

    PubMed

    Thomas, W B

    1996-07-01

    Cerebrovascular disease may be secondary to various disorders including hypothyroidism, sepsis, neoplasia, hypertension, vascular malformation, and coagulopathy. Brain infarction or hemorrhage should be suspected in an animal with a sudden onset of a focal brain lesion. The recent availability of CT and MRI has improved our ability to diagnose cerebrovascular disease in animals. Treatment is directed at maintaining adequate oxygenation of the brain, controlling elevations of ICP, treating seizures, and identifying and treating any underlying disease. With appropriate care, many animals can recover. PMID:8813757

  6. Gaucher's disease.

    PubMed

    Bohra, Vijay; Nair, Velu

    2011-07-01

    Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream. PMID:21897894

  7. [CELIAC DISEASE].

    PubMed

    Malamut, Georgia; Cellier, Christophe

    2015-12-01

    Celiac disease is an inflammatory enteropathy, autoimmune-like, due to gluten intake in genetically predisposed persons with HLA-DQ2/DQ8 genotyping. Prevalence rates are approaching 1% of population in Europe and USA. Clinical expression of celiac disease is extremely various. Screening is based on detection of serum celiac antibodies and diagnosis is confirmed with duodenal biopsy. Treatment relies on gluten free diet (GFD) with eviction of wheat, barley and rye. GFD allows prevention of osteopenia, autoimmune diseases and malignant complications. The main cause of resistance to GFD because is its bad observance. PMID:26979028

  8. Unusual Manifestations of Monoclonal Gammopathy: I. Ocular Disease

    PubMed Central

    Balderman, Sophia R.; Lichtman, Marshall A.

    2015-01-01

    Essential monoclonal gammopathy is usually an asymptomatic condition, the characteristics of which have been defined over approximately 70 years of study. It has a known population-attributable risk of undergoing clonal evolution to a progressive, symptomatic B-cell neoplasm. In a very small fraction of patients, the monoclonal immunoglobulin has biophysical characteristics that can lead to tissue deposition syndrome (e.g. Fanconi renal syndrome) or, by chance, have characteristics of an autoantibody that may inactivate critical proteins (e.g. acquired von Willebrand disease). In this report, we describe the very uncommon forms of ocular injury that may accompany essential monoclonal gammopathy, which include crystalline keratopathy, crystal-storing histiocytosis, hypercupremic keratopathy, and maculopathy. The first three syndromes result from uncommon physicochemical alterations of the monoclonal immunoglobulin that favor crystallization or exaggerated copper binding. The last-mentioned syndrome is of uncertain pathogenesis. These syndromes may result in decreased visual acuity. These ocular findings may lead, also, to the diagnosis of monoclonal gammopathy. PMID:26241228

  9. Lyme Disease

    MedlinePLUS

    ... removed it, save it in a jar of alcohol for identification. Ticks begin transmitting Lyme disease about ... the tick, you will need tweezers and isopropyl alcohol. Your child may be scared, but you should ...

  10. Binswanger's Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Binswanger's Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  11. Gaucher Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Gaucher Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  12. Menkes Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Menkes Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  13. Batten Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Batten Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  14. Behcet's Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Behcet's Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  15. Leigh's Disease

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Leigh's Disease ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  16. Crohn's Disease

    MedlinePLUS

    ... can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

  17. Lung disease

    MedlinePLUS

    ... the lungs to take in oxygen and release carbon dioxide. People with this type of lung disorder often ... the lungs to take up oxygen and release carbon dioxide. These diseases may also affect heart function. An ...

  18. Lyme disease

    MedlinePLUS

    Lyme disease is caused by bacteria called Borrelia burgdorferi ( B burgdorferi ). Blacklegged ticks and other species of ticks can carry these bacteria. The ticks pick up the bacteria when they bite ...

  19. Lyme Disease

    MedlinePLUS

    ... The disease is caused by a bacterium called Borrelia burgdorferi that's usually found in animals like mice ... on mice, deer, and other animals that carry Borrelia burgdorferi . When the tick feeds on infected animals, ...

  20. Lyme disease.

    PubMed

    Evans, J

    1994-07-01

    In the United States, Lyme disease is the most common arthropod-borne infection. The majority of cases occur in the Northeast, the Midwest, and California, which are areas with established foci of Borrelia burgdorferi. Phenotypic and genotypic diversity of B. burgdorferi has resulted in its classification into three separate genospecies and may account for differences in disease expression. Clinical features of Lyme disease have expanded to include a flulike illness without erythema migrans and the persistence of intrathecal antibody responses after successful antibiotic therapy in neuroborreliosis. Better understanding of the pathogenic mechanisms of Lyme arthritis will help guide future treatment decisions, and recent progress made in assessing the risk of infection from tick bites and vaccine development may help calm public anxiety about Lyme disease. PMID:8068513

  1. Sever's Disease

    MedlinePLUS

    ... Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & Hospitals Q& ... pressure on the heel, such as swimming and biking, but check with a doctor first. The doctor ...

  2. Lung Diseases

    MedlinePLUS

    ... on Carcinogens: Captafol A Human Health Perspective on Climate Change (Full Report) (4MB) Certain Glass Wool Fibers ( ... Environmental Public Health (PEPH) (1MB) Programs and Initiatives: Climate Change and Human Health Respiratory Disease and the ...

  3. Farber's Disease

    MedlinePLUS

    ... Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and ... some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid ...

  4. Prion Diseases

    MedlinePLUS

    ... trying to access this site from a secured browser on the server. Please enable scripts and reload ... the human prion disease CJD ​​ Javascript Error Your browser JavaScript is turned off causing certain features of ...

  5. [Lyme disease].

    PubMed

    Portillo, Arnzazu; Santibez, Sonia; Oteo, Jos A

    2014-02-01

    Lyme disease (LD) is a worldwide-distributed multisystemic process caused by Borrelia burgdorferi sensu lato (s.l.) and transmitted by hard ticks. In fact, it is the most common tick-borne infectious disease in the northern hemisphere. In Spain it is transmitted by Ixodes ricinus ticks and Borrelia garinii is the genoespecies of B. burgdorferi s.l. mostly involved in our area. LD is known as "the last great imitator" due to the broad clinical spectrum that may cause. Except in the case of erythema migrans (pathognomonic feature of the disease), the remaining clinical manifestations should be confirmed using microbiological tests. This review is intended to provide readers a current vision of the etiology, epidemiology, clinical manifestations, laboratory diagnosis and treatment of Lyme disease in our environment. Controversial aspects arising from the use of non-validated microbiological tests that are being used without scientific rigor are highlighted. PMID:24630582

  6. Behcet's Disease

    MedlinePLUS

    ... Behçet’s disease. They are particularly interested in whether Streptococcus, the bacterium that causes strep throat, is associated ... the eye and the reproductive and urinary tracts. Streptococcus. A bacterium that causes infections such as strep ...

  7. Pneumococcal Disease

    MedlinePLUS

    ... Marketing Share this: Main Content Area Pneumococcal Disease Streptococcus pneumoniae are bacteria frequently found in the upper ... T et al . Outcome of meningitis caused by Streptococcus pneumoniae and Haemophilus influenzae type b in children ...

  8. Gum Disease

    MedlinePLUS

    ... disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone ... the worst cases, you can lose teeth. In gingivitis, the gums become red and swollen. They can ...

  9. Meningococcal Disease

    MedlinePLUS

    ... Vaccine Campaign Podcast: Meningitis Immunization for Adolescents Meningitis Sepsis Meningococcal Home About the Disease Risk Factors Age ... April 1, 2014 Page last updated: March 4, 2016 Content source: Content source: National Center for Immunization ...

  10. Behcet's Disease

    MedlinePLUS

    ... Old Silk Route,” which spans the region from Japan and China in the Far East to the ... the disease’s epidemiology is not well understood. In Japan, Behcet’s disease ranks as a leading cause of ...

  11. Gaucher disease

    MedlinePLUS

    Symptoms vary, but may include: Bone pain and fractures Cognitive impairment Easy bruising Enlarged spleen Enlarged liver Fatigue Heart valve problems Lung disease Seizures Severe swelling at birth Skin changes

  12. Autoimmune Diseases

    MedlinePLUS

    ... of CAM are herbal products, chiropractic , acupuncture , and hypnosis . If you have an autoimmune disease, you might ... help you to feel your best. Meditation, self-hypnosis, and guided imagery, are simple relaxation techniques that ...

  13. Chagas disease

    PubMed Central

    Teixeira, A R L; Nitz, N; Guimaro, M C; Gomes, C

    2006-01-01

    Chagas disease is the clinical condition triggered by infection with the protozoan Trypanosoma cruzi. The infection is transmitted by triatomine insects while blood feeding on a human host. Field studies predict that one third of an estimated 18 million T cruzi?infected humans in Latin America will die of Chagas disease. Acute infections are usually asymptomatic, but the ensuing chronic T cruzi infections have been associated with high ratios of morbidity and mortality: Chagas heart disease leads to unexpected death in 37.5% of patients, 58% develop heart failure and die and megacolon or megaoesophagus has been associated with death in 4.5%. The pathogenesis of Chagas disease appears to be related to a parasite?induced mutation of the vertebrate genome. Currently, treatment is unsatisfactory. PMID:17148699

  14. Graves disease

    MedlinePLUS

    ... is called hyperthyroidism. (An underactive thyroid leads to hypothyroidism .) Graves disease is the most common cause of ... radioactive iodine usually will cause an underactive thyroid (hypothyroidism). Without getting the correct dosage of thyroid hormone ...

  15. Alzheimer's Disease

    MedlinePLUS

    ... focus on helping people maintain mental function, manage behavioral symptoms, and slow or delay the symptoms of disease. Researchers hope to develop therapies targeting specific genetic, molecular, and cellular mechanisms so that the actual ...

  16. Chagas Disease

    MedlinePLUS

    ... on Chagas disease, please visit www.cdc.gov/parasites/chagas and click General Information or call 404. ... information in Spanish, please visit www.cdc.gov/parasites/chagas/es CS226359 Center for Global Health Division ...

  17. Wilson Disease

    MedlinePLUS

    ... a condition in which the bones become less dense and more likely to fracture 4  Wilson Disease ... To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinic ...

  18. Autoinflammatory Diseases

    MedlinePLUS

    ... in symptoms and the inflammation underlying the disease. Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) TRAPS (TNF ... a genetic defect in a protein known as tumor necrosis factor receptor (TNFR). TNFR sits on the surface of ...

  19. Alzheimer's Disease

    MedlinePLUS

    ... Environmental/lifestyle factors: It is likely that your environment and your lifestyle habits also affect your risk for Alzheimer’s disease. A history of head trauma, cardiovascular or heart problems, diabetes, and obesity appear to increase your risk ...

  20. Crohn disease

    PubMed Central

    Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.

    2011-01-01

    Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

  1. Vascular Diseases

    MedlinePLUS

    ... heart and blood vessels, such as diabetes or high cholesterol Smoking Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.

  2. Kennedy's Disease

    MedlinePLUS

    ... weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles ... research is being done? The NINDS supports a broad spectrum of research on motor neuron diseases, such ...

  3. Menetrier's Disease

    MedlinePLUS

    ... Ménétrier’s disease in children to infection with cytomegalovirus (CMV). CMV is one of the herpes viruses. This group ... mono. Most healthy children and adults infected with CMV have no symptoms and may not even know ...

  4. Practical versus theoretical management of autoimmune inner ear disease.

    PubMed

    Hughes, G B; Kinney, S E; Barna, B P; Calabrese, L H

    1984-06-01

    Autoimmune inner ear disease is an uncommon but distinct clinical entity. Our ignorance of the immune mediating pathways, need of further animal model experimentation, variability of laboratory test results and of patient treatment responses illustrate how poorly we understand this disorder. The purpose of this review is to compare practical vs theoretical management of autoimmune inner ear disease, based upon our current knowledge of the disease process and upon a review of clinical experience at the Cleveland Clinic Foundation. Representative case histories are presented. The following preliminary conclusions are discussed: Autoimmune inner ear disease can present as a systemic or localized otologic immune disorder. Hearing loss can begin at any age, with unilateral or bilateral sudden onset, fluctuating or progressive symptoms, with or without associated dizziness. The pathogenesis of autoimmune inner ear disease is probably multifactorial (cellular and humoral). The sensitivity and specificity of different laboratory tests vary greatly, but even the most sensitive tests may be falsely normal when symptoms are not acute or when the patient is taking immunosuppressant medication. The mainstay of autoimmune inner ear treatment is steroids: however, cytotoxic drugs are recommended when there is no response to steroid treatment. Apheresis is reserved for selected cases. Hearing improvement can be dramatic even after 2 months of profound deafness. Flare-ups of autoimmune ear disease are best managed by increasing steroid dosage or adding cytotoxic medications. Unfortunately, some patients will develop progressive hearing loss despite vigorous treatment. PMID:6374341

  5. Biologics for the treatment of autoimmune renal diseases.

    PubMed

    Holdsworth, Stephen R; Gan, Poh-Yi; Kitching, A Richard

    2016-04-01

    Biological therapeutics (biologics) that target autoimmune responses and inflammatory injury pathways have a marked beneficial impact on the management of many chronic diseases, including rheumatoid arthritis, psoriasis, inflammatory bowel disease, and ankylosing spondylitis. Accumulating data suggest that a growing number of renal diseases result from autoimmune injury - including lupus nephritis, IgA nephropathy, anti-neutrophil cytoplasmic antibody-associated glomerulonephritis, autoimmune (formerly idiopathic) membranous nephropathy, anti-glomerular basement membrane glomerulonephritis, and C3 nephropathy - and one can speculate that biologics might also be applicable to these diseases. As many autoimmune renal diseases are relatively uncommon, with long natural histories and diverse outcomes, clinical trials that aim to validate potentially useful biologics are difficult to design and/or perform. Some excellent consortia are undertaking cohort studies and clinical trials, but more multicentre international collaborations are needed to advance the introduction of new biologics to patients with autoimmune renal disorders. This Review discusses the key molecules that direct injurious inflammation and the biologics that are available to modulate them. The opportunities and challenges for the introduction of relevant biologics into treatment protocols for autoimmune renal diseases are also discussed. PMID:26949177

  6. Case-finding in coeliac disease should be intensified.

    PubMed

    Mulder, Chris J J; Bartelsman, Joep F W M

    2005-06-01

    Large-scale screening studies on CD have been published and suggest a prevalence of CD in USA, Europe, Middle-East and Australia of about 1:100. The costs of finding coeliacs hasn't been discussed in these studies. Coeliac disease can be classified to be an important health problem. It might be relevant to have a low threshold for biopsies when screening for coeliac disease. Screening asymptomatics may be harmful for individuals. A lifelong gluten-free diet is not easy to maintain and quality of life may deteriorate. In countries familiar with coeliac disease, the classic pattern of severe malabsorption and cachexia, as described in textbooks, has become rare. CD is not borne in minds of doctors diagnosing dyspepsia and/or irritable bowel disease, or associated auto-immune diseases. The consequence is a delay in diagnosis, with secondary problems as long term auto-immune stimulation, osteoporosis and secondary malignancies. Enteropathy associated T-cell lymphomas are well known, but considering coeliac disease in T-cell lymphomas presenting outside the GE-tract is uncommon. Nation-wide screening programmes have not started, which are common for phenylketonury and other metabolic defects. It is debatable whether coeliacs found by screening adhere to a gluten-free diet similar to symptomatic coeliacs. Whether a gluten-free diet is of benefit to this subgroup is controversial. PMID:15925851

  7. [Prion disease].

    PubMed

    Mizusawa, Hidehiro

    2010-11-01

    Human prion diseases are classified into 3 categories according to etiologies: idiopathic of unknown cause, acquired of infectious origin, and genetic by PRNP mutation. The surveillance committee have analyzed 2,494 cases and identified 1,402 as prion diseases. Most of them are idiopathic, namely sporadic CJD (77%) with less genetic and acquired prion diseases (17% and 5%, respectively). The number of patients identified by the surveillance committee in these years is about 120 which are less than the number of annual death of prion disease. The difference might be due to partly the fact our surveillance need the consent from patients' family and is not complete. The mean age at onset of prion disease is late 60s while the range is fairly wide. Brain MRIs and increase of CSF 14-3-3 and tau protein levels are very characteristic. Classical sporadic CJD could show completely normal T1WI with patchy high signals in the cerebral cortex and basal ganglia on DWI. In Japan, classical sporadic CJD (MM1) is most popular but there are some rare atypical subtypes. Among them, MM2-thalamic CJD is hardest to diagnose because it shows no high intensity signals on DWI, in addition to frequent absence of CSF and EEG characteristics. In this case, CBF decrease in the thalamus on SPECT is very helpful. Genetic prion diseases in Japan are quite distinct from those in Europe. V180I and M232R mutations are unique to Japan and show sporadic CJD phenotype. Dura graft-associated CJD (dCJD) are composed of 67% of classical sporadic CJD phenotype and 33% of atypical phenotype showing slower progression with amyloid plaques. Trace-back experiments suggested the PrP(sc) of the atypical dCJD was likely to be modified from infection of abnormal VV2 protein. Although there are some atypical forms of prion diseases as mentioned above, almost all prion cases could be diagnosed with EEG, MRI, genetic test, CSF test and SPECT. We also have some incidents in which brain surgery was done before the diagnosis of prion disease and many other patients were operated using the same operating instruments before their sterilization against prion disease had been done. The explanation of possibility of prion disease infection to the patients and their follow-up was started by the incident committee. It is very important for all the nations to cooperate with each other in order to overcome this intractable disease. PMID:21921445

  8. [Ledderhose's disease].

    PubMed

    Bardelli, M; D'Arienzo, M; Veneziani, C

    1991-01-01

    The authors describe the clinical appearance of Ledderhose disease and emphasize the association with Dupuytren disease. They report on a series of patients treated at the 2nd Orthopedic Unit of University of Florence and describe the operating technique used. They believe that the procedure of removal of nodules must always be performed in association with careful exeresis of normal tissue, employing total aponeurectomy only in revision surgery. PMID:1843082

  9. Lyme Disease

    MedlinePLUS

    ... are at higher risk of getting tick-borne diseases. Ticks usually wait near the top of grassy plants and low bushes for people or animals to brush up against their perch. Ticks will often crawl upward on people's clothes or bodies for up to several hours or more before attaching to ... How can my doctor tell if I have Lyme disease? The best way to find out if you ...

  10. European Guidelines on Pericardial Diseases: a Focused Review of Novel Aspects.

    PubMed

    Fardman, Alexander; Charron, Philippe; Imazio, Massimo; Adler, Yehuda

    2016-05-01

    Pericardial diseases are not uncommon in daily clinical practice. The spectrum of these syndromes includes acute and chronic pericarditis, pericardial effusion, constrictive pericarditis, congenital defects, and neoplasms. The extent of the high-quality evidence on pericardial diseases has expanded significantly since the first international guidelines on pericardial disease management were published by the European Society of Cardiology in 2004. The clinical practice guidelines provide a useful reference for physicians in selecting the best management strategy for an individual patient by summarizing the current state of knowledge in a particular field. The new clinical guidelines on the diagnosis and management of pericardial diseases that have been published by the European Society of Cardiology in 2015 represent such a tool and focus on assisting the physicians in their daily clinical practice. The aim of this review is to outline and emphasize the most clinically relevant new aspects of the current guidelines as compared with its previous version published in 2004. PMID:27007597

  11. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

    PubMed Central

    Kingsmore, Stephen F; Dinwiddie, Darrell L; Miller, Neil A; Soden, Sarah E; Saunders, Carol J

    2011-01-01

    Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. Diseases with locus heterogeneity or overlapping signs and symptoms are especially challenging owing to the number of potential targets. Consequently, there is immense need for scalable, economical, rapid, multiplexed diagnostic testing for rare Mendelian diseases. Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases. PMID:22022947

  12. Diffuse parenchymal diseases associated with aluminum use and primary aluminum production.

    PubMed

    Taiwo, Oyebode A

    2014-05-01

    Aluminum use and primary aluminum production results in the generation of various particles, fumes, gases, and airborne materials with the potential for inducing a wide range of lung pathology. Nevertheless, the presence of diffuse parenchymal or interstitial lung disease related to these processes remains controversial. The relatively uncommon occurrence of interstitial lung diseases in aluminum-exposed workers--despite the extensive industrial use of aluminum--the potential for concurrent exposure to other fibrogenic fibers, and the previous use of inhaled aluminum powder for the prevention of silicosis without apparent adverse respiratory effects are some of the reasons for this continuing controversy. Specific aluminum-induced parenchymal diseases described in the literature, including existing evidence of interstitial lung diseases, associated with primary aluminum production are reviewed. PMID:24806728

  13. Diffuse Parenchymal Diseases Associated With Aluminum Use and Primary Aluminum Production

    PubMed Central

    2014-01-01

    Aluminum use and primary aluminum production results in the generation of various particles, fumes, gases, and airborne materials with the potential for inducing a wide range of lung pathology. Nevertheless, the presence of diffuse parenchymal or interstitial lung disease related to these processes remains controversial. The relatively uncommon occurrence of interstitial lung diseases in aluminum-exposed workers—despite the extensive industrial use of aluminum—the potential for concurrent exposure to other fibrogenic fibers, and the previous use of inhaled aluminum powder for the prevention of silicosis without apparent adverse respiratory effects are some of the reasons for this continuing controversy. Specific aluminum-induced parenchymal diseases described in the literature, including existing evidence of interstitial lung diseases, associated with primary aluminum production are reviewed. PMID:24806728

  14. Potential treatment of inflammatory bowel disease: a review of helminths therapy

    PubMed Central

    Taghipour, Niloofar; Aghdaei, Hamid Asadzadeh; Haghighi, Ali; Mossafa, Nariman; Tabaei, Seyyed Javad Seyyed

    2014-01-01

    An inflammatory bowel disease (IBD) is most common in highly industrialized Western countries but uncommon in less developed areas of the world where helminths are frequent. The hygiene hypothesis proposes that the recent increase in allergic and autoimmune diseases is due to modern highly hygienic life styles and medical conditions. Loss of routine exposure to parasitic helminths, as a result of increasing lifestyle-associated factors, may be one factor leading to the increased disease prevalence. In animal models and clinical trials of IBD, gastrointestinal nematodes colonization suppresses intestinal inflammation through multiple mechanisms including induction of innate and adaptive regulatory circuits. Studies using helminths like Trichuris suis or Necator americanus showed that these helminths are safe and may be effective therapeutic approaches for the control of IBD and other immune diseases. The aim of present review was to exploring the therapeutic use of helminths for the control of IBD. PMID:25436093

  15. Accidental and intentional animal disease outbreaks: assessing the risk and preparing an effective response.

    PubMed

    Hugh-jones, M; Brown, C C

    2006-04-01

    Intentional animal disease outbreaks are infrequent, if not rare, yet they carry the potential for disastrous consequences. Normal but accidental outbreaks are not uncommon and they must be handled efficiently, effectively and economically. And whatever its origin a disease will then follow its usual epidemiology. Therefore, the effectiveness in dealing with the normal, and the practice, experience and confidence gained, will significantly aid a country in how it minimises the cost of an intentional disease outbreak. The response is what determines the financial and economic costs of a disease outbreak. This paper provides an overview of the various threats, targets, and possible government responses, all of which is then expanded upon in detail in the other papers in this issue of the Review. PMID:16796034

  16. D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.

    PubMed

    Kalinderi, Kallirhoe; Bostantjopoulou, Sevasti; Katsarou, Zoe; Dimikiotou, Maria; Fidani, Liana

    2015-10-01

    Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as new causal Parkinson's disease (PD) genes, with the VPS35 D620N and EIF4G1 R1205H mutations being identified in both autosomal dominant late-onset familial and sporadic PD patients. However, the frequencies of these two mutations among different ethnic groups vary. We studied the VPS35 D620N and EIF4G1 R1205H mutations in a total of 333 individuals, 202 Greek patients with sporadic PD and 131 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. None of our studied individuals carried these two mutations. Our data support that the VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of PD in the Greek population. PMID:26300542

  17. A child with a long-standing, intensely itching subcutaneous nodule on a thigh: an uncommon (?) reaction to commonly used vaccines

    PubMed Central

    Bergfors, Elisabet; Lundmark, Katarzyna; Nystrm Kronander, Ulla

    2013-01-01

    A 2-year-old girl presented with an intensely itching subcutaneous nodule on the front of a thigh. The nodule persisted for 10?months until it was excised. Subsequent investigation for malignancy and systemic disease showed no pathological findings. The diagnosis, persistent itching vaccination granuloma, was revealed by hazard almost 2?years after the onset of symptoms. Persistent itching subcutaneous nodules at the injection site for aluminium containing vaccines (mostly diphtheria-tetanus-pertussis combination vaccines for primary immunisation of infants) may appear with a long delay after the vaccination (months), cause prolonged itching (years) and are often associated with contact allergy to aluminium. The condition is poorly recognised in Health Care which may lead to prolonged symptoms and unnecessary investigations. PMID:23354861

  18. A Case of Bordetella brochiseptica at a Military Medical Facility in Hawai‘i: Phenotypic and Molecular Testing of an Uncommon Human Pathogen

    PubMed Central

    Agee, Willie A; Kajiura, Lauren; Hawley-Molloy, Joshua S; Staege, Catherine M; Barnhill, Jason C

    2015-01-01

    Bordetella bronchiseptica (B. bronchiseptica) is rarely implicated in human disease. Human infections typically occur in the context of immunosuppression and while human infection has been sporadically reported in the literature, the majority of these reports are largely descriptive and do not explore the molecular and phenotypic properties of the isolates in question. Here we report the isolation and characterization of a B. bronchiseptica isolate derived from an HIV positive patient at Tripler Army Medical Center on O‘ahu. This case represents the first published report of human infection of B. bronchiseptica in the state of Hawai‘i and the most detailed description of the biochemical and molecular features of a Hawaiian isolate to date. PMID:26225268

  19. Management of Peyronie's disease--a review.

    PubMed

    Tunuguntla, H S

    2001-08-01

    Peyronie's disease is an uncommon condition involving middle-aged men and probably resulting from penile trauma. The injury causes an inflammation in the tunica and ultimately scarring and penile curvature develop. It may also occur due to nonspecific inflammation. The use of medications such as beta-blockers can sometimes result in Peyronie's disease. In Peyronie's disease, the normal elastic tissue of the tunica is replaced by scar tissue. The penile plaque, or scar tissue in this condition, is not elastic but hard and will not stretch with erection. The side that does not stretch results in penile curvature to the side of the scar. One third of men with Peyronie's disease have painful erections. A low percentage of men with Peyronie's disease develop erectile dysfunction. Because inflammation is initially associated with the scar tissue, some amount of discomfort occurs during erection. Most patients with early stage Peyronie's disease can continue to function sexually with the curvature in the penis. Others with a severe penile deformity will have difficulty in sexual intercourse. Literature regarding the effectiveness of conservative therapy in the early phase with pain and inflammation is limited, with only modest and at times anecdotal benefits. The commonly used agents include 400 units of vitamin E (vitamin E promotes healing and prevents scarring), ibuprofen (anti-inflammatory) and Colchicine (useful for pain during erection). Fexofenadine is recently being used in the early phase of Peyronie's disease for its antiinflammatory effect. Radiation and ultrasound are not usually very helpful. When the disease process stops, there is usually some residual distortion of the penis but the majority of patients are able to have satisfactory sexual intercourse. However, if there is severe penile distortion interfering with intercourse, surgery is indicated. Surgical techniques for Peyronie's disease include tightening or plication (Nesbit's tuck) of the penis opposite the curvature to produce straightening. This usually results in some small loss of length. The other type of surgery consists of incision of the plaque or scar tissue and patching with a vein (saphenous vein graft) or dermal graft. Laser therapy is occasionally used. A penile prosthesis is the treatment of choice in patients with Peyronie's disease and erectile dysfunction. PMID:11550782

  20. Noncommunicable diseases.

    PubMed

    Marrero, Shannon; Adashi, Eli Y

    2015-01-01

    Noncommunicable diseases (NCDs), long considered diseases of little significance to global health, represent the greatest threat to economic development and human health. The main NCDs-diabetes, cancer, cardiovascular disease, and chronic respiratory disease-are the world's number one killer and bear the greatest burden on the poor. On September 19-20, 2011, the United Nations General Assembly (UNGA) convened a high-level meeting (HLM) on the Prevention and Control of Non-Communicable Diseases. The only other HLM held on a health issue in the past had been in 2001 for HIV/AIDS and resulted in ambitious targets, global surveillance, and billions of dollars in aid. The 2011 HLM for NCDs did not measure up to the previous meeting in funding, targets, or advocacy but gave birth to a series of commitments in the form of a political declaration. In this article, we discuss the extent to which NCD is effecting the global population, what has and has not transpired since the 2011 HLM, and what lies ahead if we are to successfully tackle this growing burden of disease before it grows beyond our reach. PMID:25565510