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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. 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

  3. 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

  4. 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

  5. Actinomycosis--an unusual case of an uncommon disease.

    PubMed

    Petrone, L R; Sivalingam, J J; Vaccaro, A R

    1999-01-01

    Actinomycosis is an uncommon disease caused by organisms of the Actinomyces genus. These organisms are commonly found in the mucous membranes but do not cause infection unless there is disruption of the membranes, as occurs, for example, during dental trauma or abdominal surgery. Use of an IUD is also a risk factor for pelvic actinomycosis. The disease is usually insidious and is often mistaken for other conditions. Treatment of the infection, once diagnosed, is a regimen of long-term antibiotics such as penicillin, clindamycin, and others. Our patient had pelvic and sacral actinomycosis without any of the traditional risk factors for infection. PMID:10220241

  6. Graves’ disease as an uncommon cause of acute pericarditis

    PubMed Central

    Kortekaas, Kirsten; van der Lienden, Bas; Jong, Simone; Riezebos, Robert

    2014-01-01

    Acute pericarditis is either dry, fibrinous or effusive, independent of its aetiology. A case is presented involving a 44-year-old man with acute pericarditis. The cause was established to be an aggravation of Graves’ disease due to non-compliance with treatment. Pericarditis is an uncommon cardiac complication of Graves’ disease and is associated with more recurrent episodes when not detected. Pharmacological treatment should include anti-inflammatory drugs in combination with treatment for hyperthyroidism. The specific pathophysiological link between the two conditions is still to be elucidated. PMID:24769665

  7. An uncommon anatomy presenting with a common disease.

    PubMed

    Tantiongco, John-Paul

    2012-01-01

    Coronary artery fistulas are rare anomalous communications, between coronary arteries and cardiac chambers and great vessels. They are often congenital, but usually present in adulthood. They can affect cardiac haemodynamic stability and are thought to predispose patients to heart failure, myocardial ischaemia, myocardial infarction, infective endocarditis, arrythmias and rupture. Herein, a case is discussed where a patient with long-standing stable angina was found to have a coronary artery fistula to the main pulmonary artery and concomitant ischaemic heart disease with a chronically occluded left anterior descending artery, proximal to the fistula. It is thought that the fistula probably predisposed the patient's ischaemic heart disease. He underwent a successful coronary artery bypass grafting plus surgical ligation of the coronary artery fistula. This uncommon coronary artery anomaly, presenting with ischaemic heart disease, a common disease in adulthood, is discussed in the context of current recommedations. PMID:22962390

  8. MRI of diffuse liver disease: the common and uncommon etiologies.

    PubMed

    Chundru, Surya; Kalb, Bobby; Arif-Tiwari, Hina; Sharma, Puneet; Costello, James; Martin, Diego R

    2013-01-01

    Diffuse liver disease, including all causes of chronic liver disease, affects tens of millions of people worldwide. There is a growing need for diagnostic evaluation as treatments become more readily available, particularly for viral liver disease. Magnetic resonance imaging (MRI) provides unique capabilities for noninvasive characterization of liver tissue that rival or surpass the diagnostic utility of liver biopsies. There has been incremental improvement in the use of standardized MRI sequences, acquired before and after administration of contrast for the evaluation of diffuse liver disease, and this includes study of the liver parenchyma and blood supply. More recent developments have led to methods for quantifying important liver metabolites, including fat and iron, and liver fibrosis, which is the hallmark for chronic liver disease. In this study, we review the MRI techniques and diagnostic features associated with common and uncommon etiologies of diffuse liver diseases, including processes that lead to abnormal perfusion (e.g. Budd-Chiari syndrome, congestive hepatomegaly), deposition diseases (e.g. fatty liver, hemochromatosis, Wilson's disease), and abnormalities that are related to inflammation and fibrosis (e.g. primary sclerosing cholangitis, sarcoidosis). PMID:23921268

  9. Is adult celiac disease really uncommon in Chinese?

    PubMed

    Jiang, Ling-ling; Zhang, Bing-ling; Liu, You-shi

    2009-03-01

    Celiac disease (CD) is a type of intestinal malabsorption syndrome, in which the patients are intolerant to the gliadin in dietary gluten, resulting in chronic diarrhea and secondary malnutrition. The disease is common in Europe and the United States, but only sporadic reports are found in East Asia including China. Is CD really rare in China? We examined 62 patients by capsule endoscopy for chronic diarrhea from June 2003 to March 2008. Four patients with chronic diarrhea and weight loss were diagnosed to have CD. Under the capsule endoscopy, we observed that the villi of the proximal small bowel became short, and that the mucous membrane became atrophied in these four patients. Duodenal biopsies were performed during gastroscopy and the pathological changes of mucosa were confirmed to be Marsh 3 stage of CD. A gluten free diet significantly improved the conditions of the four patients. We suspect that in China, especially in the northern area where wheat is the main food, CD might not be uncommon, and its under-diagnosis could be caused by its clinical manifestations that could be easily covered by the symptoms from other clinical situations, particularly when it came to subclinical patients without obvious symptom or to patients with extraintestinal symptoms as the initial manifestations. PMID:19283870

  10. 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

  11. Crohn's disease and Takayasu's arteritis: an uncommon association.

    PubMed

    Taddio, Andrea; Maschio, Massimo; Martelossi, Stefano; Barbi, Egidio; Ventura, Alessandro

    2013-09-21

    Takayasu's arteritis (TA) and Crohn's disease (CD) are two rare autoimmune disorders; however some reports describe the presence of both diseases in the same patient. This finding has suggested the possibility that both diseases could share some common etiologic origin. We describe a case of a 13-year-old male affected by CD characterized by fever, diarrhea, weight loss, abdominal pain and elevation of inflammatory markers. Clinical and histological features from colonic specimens were consistent with CD. Treatment with steroids and azathioprine was started, however disease flared every time steroids were tapered. One year later, while still on treatment, he came back to our attention for dyspnea at rest and at night, tiredness and weakness. At physical examination a diastolic heart murmur was found as well as a left carotid artery bruit. A transthoracic echocardiography showed mild aortic valve insufficiency, left ventricular hypertrophy and a dilated ascending aorta with same findings at the aortic arch. A computed tomography scan showed abdominal aorta thickening, dilated thoracic aorta and the presence of a thoracic aortic aneurysm. TA associated with CD was diagnosed and medical treatment with cyclophosphamide, steroids and aminosalicylic acid was started, with good clinical response at 6 mo follow-up. We discuss the presence of possible common causes for the two diseases and the importance of differential diagnosis in those patients characterized for intractable disease. PMID:24124342

  12. An uncommon presentation of Kikuchi-Fujimoto disease as mediastinal lymphadenopathy

    PubMed Central

    Nishimura, Takashi; Nitadori, Jun-ichi; Miyakoshi, Shigesaburo; Seki, Atsuko; Arai, Tomio; Nakajima, Jun

    2016-01-01

    We experienced an uncommon presentation of Kikuchi-Fujimoto disease (KFD) with sole mediastinal lymphadenopathy in senior age, which was histologically diagnosed by thoracoscopic biopsy leading to appropriate therapy. A 69-year-old man was admitted due to intermittent high fever, general malaise, and appetite loss lasting over 3 months along with 10-kg weight loss in 6 months. Chest computed tomography (CT) showed isolated mediastinal lymphadenopathy, and malignant diseases including malignant lymphoma or metastatic carcinoma, tuberculous lymphadenitis, and sarcoidosis were considered. Therefore thoracoscopic biopsy should be performed for the correct diagnosis, even in uncommon portion of lymph node swelling and age for KFD. PMID:27162693

  13. An uncommon presentation of Kikuchi-Fujimoto disease as mediastinal lymphadenopathy.

    PubMed

    Hino, Haruaki; Nishimura, Takashi; Nitadori, Jun-Ichi; Miyakoshi, Shigesaburo; Seki, Atsuko; Arai, Tomio; Nakajima, Jun

    2016-05-01

    We experienced an uncommon presentation of Kikuchi-Fujimoto disease (KFD) with sole mediastinal lymphadenopathy in senior age, which was histologically diagnosed by thoracoscopic biopsy leading to appropriate therapy. A 69-year-old man was admitted due to intermittent high fever, general malaise, and appetite loss lasting over 3 months along with 10-kg weight loss in 6 months. Chest computed tomography (CT) showed isolated mediastinal lymphadenopathy, and malignant diseases including malignant lymphoma or metastatic carcinoma, tuberculous lymphadenitis, and sarcoidosis were considered. Therefore thoracoscopic biopsy should be performed for the correct diagnosis, even in uncommon portion of lymph node swelling and age for KFD. PMID:27162693

  14. Syphilitic hepatitis: an uncommon manifestation of a common disease.

    PubMed

    Baveja, Sukriti; Garg, Shilpa; Rajdeo, Amol

    2014-03-01

    Hepatitis being first manifestation of secondary syphilis is rare. Here in we report a case of 39 years old male who was being treated for hepatitis and presented to us subsequently with itchy maculopapular rash. Venereal disease research laboratory (VDRL) titre was 1:16. Treponema pallidum hemagglutination assay (TPHA) was positive. He was treated with intramuscular Benzathine Penicillin. His hepatitis improved rapidly. PMID:24700957

  15. Cauda equina syndrome: an uncommon symptom of aortic diseases

    PubMed Central

    He, Fuliang; Xing, Tong; Yu, Fang; Li, Hongchuan; Fang, Xiutong; Song, Hongxing

    2015-01-01

    Background: In order to help diagnose and deal with the fetal aortic diseases in time, we retrospectively reviewed 8 patients who presented with cauda equina syndrome (CES) but actually suffered from low spinal nerve ischemia due to aortic diseases. Material and Methods: 8 patients were initially diagnosed as CES. 7 patients were confirmed with aortic diseases. 1 patient was confirmed with aortic saddle embolism post emergent laminectomy. Relief of CES symptoms was evaluated during preoperation and follow-up period. Results: 1 patient was diagnosed as aortic dissection and 5 patients as AAA. These 6 patients underwent endovascular aortic repair (EVAR). The CES was relieved in 5-10 d post procedure. The 7th patient was diagnosed with acute abdominal aortic occlusion and then underwent catheter directed thrombolysis with recombinant tissue plasminogen activator (rTPA) for 20 h and CES disappeared. The JOA scores of the 7 patients were recovered from preoperative 15.14±1.21 to 21.00±2.16 within 5-10 d (P<0.01), and evaluated to be 24.12±1.34, 25.88±1.21 and 26.29±1.11 at 3 m-, 6 m- and 12 m-follow-up point, respectively. The 8th patient was initially diagnosed as lumbar spinal stenosis and lumbar disc herniation. The patient underwent emergent vertebral canal decompression and presented with serious CES symptoms. CTA confirmed that the patient had been suffered from aortic saddle embolism (ASE). Conclusion: CES caused by abdominal aortic diseases is a special event with fetal consequences if it is not recognized and treated promptly. Orthopedists and neurosurgeons should pay attentions particularly to this issue to preserve the cauda equina functions to their maximums. PMID:26379869

  16. 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

  17. 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

  18. 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

  19. Sigmoid volvulus: an uncommon complication of Hirschsprung's disease.

    PubMed

    Ranjan, Abhishek; Jain, Vishesh; Sharma, Shilpa; Gupta, Devendra Kumar

    2016-01-01

    Sigmoid volvulus is a rare and potentially life-threatening condition that is usually seen in adults, however, when diagnosed in children, it is often associated with Hirschsprung's disease (HD). We report a case of an 11-year-old boy who presented with a history of constipation since 1.5 months of age, with acute onset of severe abdominal pain and marked distention of the abdomen. Sigmoid volvulus was suspected, detected and successfully managed with resection of the sigmoid colon and primary Scott Boley's pull-through. This report underscores the importance of suspecting sigmoid volvulus in the pertinent clinical setting; also, a primary definitive procedure can be performed in select cases. PMID:27229747

  20. Goodpasture’s 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

    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

  1. Buerger's disease presenting as a testicular mass: A rare presentation of an uncommon disease

    PubMed Central

    Roberts, Jay A.; Meyer, Jon-Paul

    2016-01-01

    Thromboangiitis obliterans is an uncommon nonatherosclerotic segmental inflammatory disease that predominantly affects the small and medium-sized arteries and veins of the distal extremities. It was first described in 1879 and is also known as Buerger's disease. Buerger's usually begins with ischemia of small vessels producing digital infarcts and may progress to more proximal arteries and veins, producing claudication of the feet, legs, hands, or arms. Tobacco smoking is essential to the initiation and the progression of disease and it typically occurs in males under the age of 45 years. Although Buerger's most commonly affects the arms, hands, legs, and feet, it has also been reported in other vascular beds including cerebral, coronary, renal, mesenteric, and pulmonary arteries. There are also a small number of cases involving the male genitalia. To our knowledge, there has only been one English case of Buerger's involving the testis, published in 1940. Here, we present a new case of Buerger's presenting as a testicular mass in a 17-year-old cannabis smoker.

  2. 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

  3. 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

  4. Proposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.

    PubMed

    Lai, Quirino; Lerut, Jan

    2016-01-01

    Liver transplantation (LT) represents an uncommon indication for Caroli's disease (CD) or syndrome (CS). Excellent results of LT have been reported as shown by recent multicentric European and American registry reports. Clear therapeutic flowcharts to adopt in these diseases are still lacking. This review aims at analyzing highlighting recent transplant experiences in this field and also at focusing on the role of LT in case-specific comorbidities such as development of cholangiocellular cancer or renal failure are present. PMID:26385435

  5. 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

  6. Bronchiectasis: Mechanisms and Imaging Clues of Associated Common and Uncommon Diseases.

    PubMed

    Milliron, Bethany; Henry, Travis S; Veeraraghavan, Srihari; Little, Brent P

    2015-01-01

    Bronchiectasis is permanent irreversible dilatation of the airways and occurs in a variety of pathologic processes. Recurrent infection and inflammation and the resulting chemical and cellular cascade lead to permanent architectural changes in the airways. Bronchiectasis can confer substantial potential morbidity, usually secondary to recurrent infection. In severe cases of bronchiectasis, massive hemoptysis can lead to death. Thin-section computed tomography is the most sensitive imaging modality for the detection of bronchiectasis; findings include bronchial diameter exceeding that of the adjacent pulmonary artery and lack of normal tapering of terminal bronchioles as they course toward the lung periphery. The authors will review various causes of bronchiectasis, including common causes, such as recurrent infection or aspiration, and uncommon causes, such as congenital immunodeficiencies and disorders of cartilage development. The authors will also present an approach emphasizing the distribution (apical versus basal and central versus peripheral) and concomitant findings, such as nodules, cavities, and/or lymphadenopathy, that can assist in narrowing the differential diagnosis. Although an adequate understanding of these underlying causes in conjunction with their specific imaging appearances will allow radiologists to more confidently determine the process causing this common radiologic finding, clinical history and patient demographic characteristics play an integral role in determining a pertinent and concise differential diagnosis. PMID:26024063

  7. 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

  8. 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

  9. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

    SciTech Connect

    Choy, F.Y.M.; Wei, C.; Applegarth, D.A.; McGillivray, B.C.

    1994-06-01

    Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the glucocerebrosidase gene and identified an uncommon mutation in nucleotide position 1604 (genoma DNA nucleotide position 6683) from a Gaucher disease patient of Jewish-Polish-Russian descent with type 1 Gaucher disease. It is a G{yields}A transition in exon 11 that results in {sup 496}Arg{yields}{sup 496}His of glucocerebrosidase. This missense mutation is present in the heterozygous form and creates a new cleavage site for the endonuclease HphI. We have developed a simple method to detect the presence of this mutation by using HphI restriction fragment length polymorphism analysis of glucocerebrosidase genomic DNA or cDNA. The mutation in the other Gaucher allele of this patient is an A{yields}G transition at cDNA nucleotide position 1226 which creates an XhoI cleavage site after PCR mismatch amplification. The presence of this mutation was also confirmed by sequence analysis. Based on previous reports that mutation 1226 is present only in type 1 Gaucher disease and the observation that there is no neurological involvement in this patient, we conclude that our patient with the 1226/1604 genotype is diagnosed as having type 1 Gaucher disease. Since it was also postulated that mutation 1226 in the homozygous form will usually result in a good prognosis, we speculate that the orthopedic complications and the unusual presence of glomerulosclerosis in this patient may be attributable to the mutation at nucleotide 1604. This speculation will require a description of more patients with this mutation for confirmation. 32 refs., 5 figs.

  10. 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

  11. 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

  12. Celiac disease and gastric hyperplastic polyps: a case series of an uncommon association.

    PubMed

    Galvez-Ríos, Shareni; Arano-Acua, Miguel; Meixueiro-Daza, Arturo; Grube-Pagola, Peter; Remes-Troche, José M

    2014-07-01

    Gastric polypoid lesions are found in ∼1-4% of patients who undergo esophagogastroduodenoscopy. The hyperplastic lesions are considered non-neoplastic polyps that are distributed randomly in the stomach and they are usually related to chronic gastritis as a result of the exaggerated mucosal healing response. Although several conditions have been associated with celiac disease (CD), such as thyroiditis, Addison's disease, type 1 diabetes mellitus, and autoimmune hepatitis, the association with gastric polyps is rare. In this case series, we present seven newly diagnosed patients (six women) with CD and hyperplastic gastric polyps. Helicobacter pylori infection was ruled out through histology in all the patients and two out of seven had a history of occasional proton pump inhibitor use. An unusual association was found between CD and hyperplastic polyps in this case series. PMID:24901825

  13. 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

  14. Palpable purpura with foot drop: Common presentations in an uncommon disease

    PubMed Central

    Mathanda, Teena Ramesh; Bhat, Ramesh; Alva, Jayaprakash

    2015-01-01

    Churg–Strauss syndrome is a rare disease manifested by hypereosinophilia, vasculitis and tissue infiltration. This report describes the case of a 45-year-old man who presented with a history of fever, difficulty in breathing, reddish lesions over the extremities and inability to walk since two weeks. The cutaneous features prompted us to conduct serial lab investigations which led to an early, potentially life saving diagnosis. PMID:25821734

  15. Invasive lobular carcinoma of the male breast: A rare histology of an uncommon disease.

    PubMed

    Upadhyay, Rituraj; Kumar, Pavnesh; Sharma, D N; Haresh, K P; Gupta, Subhash; Julka, P K; Rath, G K; Bhankar, Himani

    2016-03-01

    Male breast carcinoma is a rare malignancy comprising less than 1% of all breast cancers. It is a serious disease with most patients presenting in advanced stages. Infiltrating ductal carcinoma is the most common histology while lobular carcinoma represents less than 1% of all these tumors. We report a case of locally advanced lobular carcinoma of breast in a 60year old male. PMID:26530727

  16. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation.

    PubMed

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis. PMID:26045858

  17. Painful pes planovalgus: an uncommon pediatric orthopedic presentation of Charcot-Marie-Tooth disease.

    PubMed

    Hoellwarth, Jason S; Mahan, Susan T; Spencer, Samantha A

    2012-09-01

    Charcot-Marie-Tooth (CMT) disease is an inherited progressive neurologic disorder often diagnosed by the characteristic cavovarus feet. In the pediatric population, the presentation is often more variable and age dependent. Pediatric orthopedic surgeons may be referred patients for the evaluation of musculoskeletal symptoms that may be consistent with early CMT, but because of the lack of the surgeon's familiarity, the diagnosis may be delayed or missed. We present three patients with pes planovalgus who were found to have CMT and review the recent literature relevant to the pediatric orthopedic surgeon. The clinical summary is given for three patients who presented to the orthopedic surgery department for lower extremity symptoms and were eventually diagnosed with CMT. A literature search was performed and information valuable for a pediatric orthopedic surgeon to consider is summarized. Foot morphology in most young children with CMT initially is pes planovalgus, with the minority being pes cavovarus. As the child grows, the proportion changes to become nearly entirely cavus or cavovarus, with very few remaining planovalgus or planus. Unexplained regional pain may also be suggestive of CMT. Whereas CMT often presents initially in adolescent or adult patients with cavovarus feet, thin calves, or a high-stepping gait, pediatric presentation is not so consistent. Young children with CMT often have pes planovalgus. There are even some variants of CMT where patients still may present with severe pes planovalgus into late adolescence. We recommend that pediatric orthopedic surgeons consider CMT even in patients who do not have cavus or cavovarus feet, especially in the context of unexplained regional pain of the lower extremities. Patients should be referred to a pediatric neurologist for definitive diagnosis and management, with the orthopedic surgeon remaining involved for specific procedures. PMID:22744235

  18. 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

  19. 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 24 h 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, Sjögren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 h patterns 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

  20. 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

  1. An uncommon cause of sciatica.

    PubMed

    Shakeel, Muhammad; Kumaravel, Manickam; Mackenzie, James M; Knight, David J

    2009-02-01

    A 67-year-old male patient underwent a left nephrectomy for a renal cell carcinoma. Thirty-eight months later, he presented with right sided lower backache, radiating to the posterior aspect of his thigh, calf and foot, paraesthesiae and numbness in the distribution of the right S1 and S2 dermatomes. The presumptive diagnosis was of nerve root entrapment secondary to a disc prolapse. MRI scan of the lumbosacral spine revealed an enlarged S1 root canal containing a solid solitary lesion suggestive of a neurofibroma of the S1 nerve root. Because of persistent pain, he underwent a right L5/S1 hemilaminectomy. A lesion originating from the right S2 nerve root was found and excised. The patient made an uneventful postoperative recovery with complete resolution of his right leg pain. The histopathological examination revealed a portion of the nerve root and dorsal root ganglion infiltrated by metastatic renal cell carcinoma. Although uncommon, nerve root infiltration by a metastasis should be included in the differential diagnosis of back pain and sciatica, especially if there is a previous history of malignant disease. PMID:19208321

  2. [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

  3. 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

  4. 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

  5. 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

  6. Uncommon pancreatic tumors and pseudotumors.

    PubMed

    Lalwani, Neeraj; Mannelli, Lorenzo; Ganeshan, Dhakshina Moorthy; Shanbhogue, Alampady K; Dighe, Manjiri K; Tiwari, Hina Arif; Maximin, Suresh; Monti, Serena; Ragucci, Monica; Prasad, Srinivasa R

    2015-01-01

    A heterogeneous group of uncommon neoplastic and non-neoplastic pancreatic pathologies exists that can mimic pancreatic adenocarcinoma. These "imitators" are unique and may demonstrate characteristic clinical and imaging features. Imaging characteristics of some of these diverse lesions are not well described in the literature, and erroneous diagnoses of these entities as pancreatic carcinoma may be responsible for unnecessary surgeries. Knowledge of these selected pancreatic pathologies is essential to facilitate optimal patient management. PMID:25063236

  7. Secondary Syphilis: Uncommon Manifestations a Common Disease

    PubMed Central

    McPhee, Stephen J.

    1984-01-01

    Reports of cases of primary and secondary syphilis are increasing in the United States, particularly in urban areas and among homosexual men. While primary syphilis poses little diagnostic difficulty, many physicians are unfamiliar with the multisystem nature of secondary lues. Patients who have secondary syphilis commonly present with systemic signs, skin rash, mucous membrane lesions and generalized adenopathy. Less commonly, secondary syphilis may occur as acute meningitis, sensorineural hearing loss, iritis, anterior uveitis, optic neuritis, Bell's palsy, gastropathy, proctitis, hepatitis, pulmonary infiltration, nephrotic syndrome, glomerulonephritis, periostitis, tenosynovitis and polyarthritis. The diagnosis of secondary syphilis is easily confirmed. Its various manifestations are readily treated with penicillin and, if treated early, are entirely reversible. Two recent cases of secondary syphilis, one presenting as nephrotic syndrome and one as chorioretinitis and ptosis, illustrate the usual and unusual features of this common infection. Images PMID:6702190

  8. Uncommon presentations of tinea versicolor

    PubMed Central

    Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.

    2014-01-01

    Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470

  9. Elastofibroma: An Uncommon Tumor Revisited

    PubMed Central

    Patnayak, Rashmi; Jena, Amitabh; Settipalli, Sarla; Nagesh, N

    2016-01-01

    Elastofibromas are rare benign, soft-tissue slow-growing tumors seen predominantly in elderly females. The most common location is the infrascapular region. These benign tumors require resection only in symptomatic cases. We present a case of elastofibroma in a 46-year-old female. She presented with gradually increasing soft-tissue swelling of 8 cm × 6 cm in the right inferior subscapular region for the last 2 years. She underwent excisional biopsy and the histopathology was reported as elastofibroma. Microscopically, the mass showed numerous characteristic eosinophilic, beaded elastic fibers. These fibers were highlighted by the Verhoeff's elastic stain. We present this uncommon case to emphasize the important role of histopathology in diagnosis. A definitive diagnosis helps to avoid unnecessary wide and radical resection.

  10. 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…

  11. Neonatal cholestasis: an uncommon presentation of hyperargininemia.

    PubMed

    Gomes Martins, Esmeralda; Santos Silva, Ermelinda; Vilarinho, Silvia; Saudubray, Jean Marie; Vilarinho, Laura

    2010-12-01

    Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childhood (between 2 and 4 years of age) with developmental delay associated with progressive spastic paraparesis. Neonatal presentation is very uncommon with a poorly described outcome. Here, we discuss two cases of neonatal cholestasis as initial clinical presentation of hyperargininemia. In case 1, diagnosis was established at 2 months of age upon investigation of the etiology of cholestatic injury pattern and hepatosplenomegaly, and treatment was then initiated at when the patient was 3 months old. Unfortunately, the patient had progressive biliary cirrhosis to end-stage liver disease complicated with portal hypertension for which she underwent successful orthotopic liver transplant at 7 years of age. In case 2, hyperargininemia was identified through newborn screening and treatment was started when patient was 21 days old. Cholestasis was only identified in the patient's further evaluation and it resolved 2 weeks into treatment. The patient is currently 18 months old and her development and neurological examination remain unremarkable. Neonatal cholestasis as first presentation of hyperargininemia is rare, but this disorder should be included in the differential diagnosis of unexplained cholestasis in the neonate. In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease. PMID:21229317

  12. An uncommon case of hepatopulmonary amoebiasis.

    PubMed

    Patrício, Catarina; Amaral, Patrícia; Lourenço, João

    2014-01-01

    Amoebiasis is an uncommon infection in developed countries caused by the protozoan Entamoeba histolytica. Amoebic liver abscess is the most frequent extraintestinal presentation of the disease; pleuropulmonary involvement is rare, occurring mostly by rupture of the abscess into the pleural space or lung parenchyma. We describe a case of a 48-year-old migrant from São Tomé e Príncipe, with fever, wasting, dry cough and right upper abdominal pain for the past 2 months. The CT scan revealed a voluminous liver abscess with thrombosis of the right suprahepatic and inferior vena cava, right pulmonary lobar abscess and multiple diffuse condensations in both lungs. Aspirated pus resembled anchovy sauce; blood and aspirated material cultures for infectious agents were negative. Serology for E. histolytica was positive, and the diagnosis of hepatopulmonary amoebiasis with infectious phlebitis was confirmed by positive PCR in the liver pus. Treatment with metronidazole+paramomycin led to clinical and radiological resolution. PMID:25155487

  13. 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

  14. Uncommon Manifestations of Intervertebral Disk Pathologic Conditions.

    PubMed

    Diehn, Felix E; Maus, Timothy P; Morris, Jonathan M; Carr, Carrie M; Kotsenas, Amy L; Luetmer, Patrick H; Lehman, Vance T; Thielen, Kent R; Nassr, Ahmad; Wald, John T

    2016-01-01

    Beyond the familiar disk herniations with typical clinical features, intervertebral disk pathologic conditions can have a wide spectrum of imaging and clinical manifestations. The goal of this review is to illustrate and discuss unusual manifestations of intervertebral disk pathologic conditions that radiologists may encounter, including disk herniations in unusual locations, those with atypical imaging features, and those with uncommon pathophysiologic findings. Examples of atypical disk herniations presented include dorsal epidural, intradural, symptomatic thoracic (including giant calcified), extreme lateral (retroperitoneal), fluorine 18 fluorodeoxyglucose-avid, acute intravertebral (Schmorl node), and massive lumbar disk herniations. Examples of atypical pathophysiologic conditions covered are discal cysts, fibrocartilaginous emboli to the spinal cord, tiny calcified disks or disk-level spiculated osteophytes causing spinal cerebrospinal fluid (CSF) leak and intracranial hypotension, and pediatric acute calcific discitis. This broad gamut of disease includes a variety of sizes of disk pathologic conditions, from the tiny (eg, the minuscule calcified disks causing high-flow CSF leaks) to the extremely large (eg, giant calcified thoracic intradural disk herniations causing myelopathy). A spectrum of clinical acuity is represented, from hyperacute fibrocartilaginous emboli causing spinal cord infarct, to acute Schmorl nodes, to chronic intradural herniations. The entities included are characterized by a range of clinical courses, from the typically devastating cord infarct caused by fibrocartilaginous emboli, to the usually spontaneously resolving pediatric acute calcific discitis. Several conditions have important differential diagnostic considerations, and others have relatively diagnostic imaging findings. The pathophysiologic findings are well understood for some of these entities and poorly defined for others. Radiologists' knowledge of this broad scope of unusual disk disease is critical for accurate radiologic diagnoses. Online supplemental material is available for this article. (©)RSNA, 2016. PMID:27082664

  15. Pseudomelanosis of the stomach and duodenum: an uncommon endoscopic finding.

    PubMed

    Thure Caire, M; Kalan, Shivam; Brady, Patrick; Gill, Jeffrey

    2014-09-01

    A woman (70-years) with a history of iron deficiency anemia and chronic kidney disease presented with two weeks of abdominal pain. Upper endoscopy demonstrated the gastric and duodenal mucosa was black and speckled consistent with diagnosis of pseudomelanosis. Biopsies showed pigment-laden macrophages in the lamina propria, which stained positive for iron and Masson-Fontana trichrome stain consistent with a "melanin-like" pigment. Although an uncommon endoscopic finding, this pigment has been associated with the use of certain medications, antihypertensives and iron supplements, and systemic illnesses, including hypertension, chronic kidney disease, gastric hemorrhage, and diabetes mellitus. PMID:26134967

  16. 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

  17. Pyogenic liver abscess: uncommon presentation.

    PubMed

    Sotto Mayor, Joana; Robalo, Maria Margarida; Pacheco, Ana Paula; Esperança, Sofia

    2016-01-01

    Pyogenic liver abscess is a rare entity, but it is fatal when untreated. With a peak incidence in the fifth decade of life, its early recognition and intervention are key to successful treatment and better prognosis of patients. In recent years, its approach has been enhanced by the use of percutaneous drainage, improved imaging techniques and a better microbiological characterisation, allowing for a more appropriate use of antibiotics. Clinical manifestations are variable and depend on the size of the abscess, the condition of the patient, associated diseases and possible complications. Among the most common symptoms that stand out are the pain in the upper quadrants of the abdomen, high fever, nausea and vomiting. The authors present the case of a patient who developed an atrial flutter as the initial presentation of a hepatic abscess that imagiologically mimicked a hepatic tumour. PMID:27170608

  18. 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

  19. 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…

  20. 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…

  1. 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

  2. Uncommon renal tumors in children: A single center experience

    PubMed Central

    Mandal, Kartik Chandra; Mukhopadhyay, Madhumita; Barman, Shibsankar; Halder, Pankaj; Mukhopadhyay, Biswanath; Kumar, Rajarshi

    2016-01-01

    Aims: Scrutiny over the clinical behaviors, management, and the final outcome of some rare renal neoplasm in order to find out some hidden facts about these tumors which are playing an important role in the disease course and its management. Materials and Methods: Retrospective evaluation of uncommon (non-Wilms’) renal neoplasm in the pediatric population in a tertiary care center. Fifteen cases of uncommon renal tumors were treated in our institution over the last 5 years (January 2008 to December 2012). The cases were tabulated in the form of age, sex, mode of presentation, preoperative investigations, intraoperative grading, pathological type, postoperative management and the final outcome. The patients were followed up for 2 years (clinically every 3 months and ultrasonography abdomen in every 6 months for first 2 years) in order to see any evidence of recurrence and complications related to postoperative chemotherapy. Results: Out of 15 cases, four cases were clear cell sarcoma (CCS) (26.6%), three cases were rhabdoid tumor (20%), three cases were congenital mesoblastic nephroma (20%), two cases were multilocular cystic nephroma (13.3%), two cases were renal teratoma (13.3%), and one case of teratoid Wilms’ tumor (6.6%). There were two deaths (one CCS and one rhabdoid tumor) due to chemotherapy-related toxicity but no recurrence. Three patients were lost during postoperative follow-up; ten patients are doing well and getting a regular visit in the follow-up clinic. Conclusion: The clinical presentations of these uncommon renal tumors are similar to that of Wilms’ tumor. Thus, preoperative diagnosis is difficult even with modern imaging techniques. Some of these tumors (CCS, rhabdoid tumor) are rapidly progressing and have a poor outcome. Hence, early intervention in the form of complete surgical resection of the tumor (whenever possible) and postoperative chemo/radiotherapy are imperative for fruitful outcome. PMID:27046976

  3. 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

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

    PubMed Central

    Díaz-Perales, Araceli; González-de-Olano, David; Pérez-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

  5. 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

  6. Diabetic Mastopathy: An Uncommon Complication of Diabetes Mellitus

    PubMed Central

    Kirby, R. X.; Mitchell, D. I.; Williams, N. P.; Cornwall, D. A.; Cawich, S. O.

    2013-01-01

    Introduction. Whilst most consequences of diabetes mellitus are well recognized, breast-related complications remain obscure. The term diabetic mastopathy (DMP) attempts to describe the breast-related consequences of diabetes. Methods. We report the clinicopathologic findings in a patient with DMP and review the literature on this uncommon entity. Results. A 33-year-old woman with type 1 diabetes had excision biopsy of a 2 cm breast lump. Histopathologic evaluation revealed classic features of DMP: parenchymal fibrosis; keloid-like hyalinization of interlobular stroma; adipose tissue entrapment; lobular compression; dense chronic inflammatory cell infiltration; and lymphoid follicle formation. Conclusion. Clinicians should be aware of DMP as a differential for breast disease in women with uncontrolled diabetes. PMID:23936718

  7. Antibiotic susceptibility profiles of uncommon bacterial species causing severe infections in Italy.

    PubMed

    Nicolosi, D; Nicolosi, V M; Cappellani, A; Nicoletti, G; Blandino, G

    2009-06-01

    This study presents the results of the italian "Severe infections project" involving bacteria that can be considered rare causes of disease. we isolated 30 uncommon human pathogens from a total of 60 strains (1.2% of all the isolates). The most frequent sources of uncommon human pathogens were primary bloodstream infections (48.3%) and pneumonia (20%). Species such as Comamonas testosteroni, Enterococcus hirae, Kluyvera ascorbata, Kluyvera cryocrescens, Leclercia adecarboxylata and Ochrobactrum anthropi were recovered from bacteremia patients. Clinically useful antimicrobial agents were tested against each isolate. Resistance to 4 or more antibiotics tested was found in Achromobacter xylosoxidans, O. anthropi, Pseudomonas stutzeri, Citrobacter braakii, Enterobacter sakazakii, K. ascorbata, Proteus penneri and Serratia plymuthica. About 16% of the Gram-negative species were resistant to third-generation cephalosporins and 28.6% of the staphylococci were oxacillin-resistant. the results from this study offer indications for empirical therapy for severe infections from uncommon human pathogens. PMID:19567344

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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.

  13. 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.

  14. Candidaemia with uncommon Candida species: predisposing factors, outcome, antifungal susceptibility, and implications for management.

    PubMed

    Chen, S C A; Marriott, D; Playford, E G; Nguyen, Q; Ellis, D; Meyer, W; Sorrell, T C; Slavin, M

    2009-07-01

    The risk factors for and clinical features of bloodstream infection with uncommon Candida spp. (species other than C. albicans, C. glabrata, C. parapsilosis, C. tropicals and C. krusei) are incompletely defined. To identify clinical variables associated with these species that might guide management, 57 cases of candidaemia resulting from uncommon Candida spp. were analysed in comparison with 517 episodes of Candida albicans candidaemia (2001-2004). Infection with uncommon Candida spp. (5.3% of candidaemia cases), as compared with C. albicans candidaemia, was significantly more likely to be outpatient-acquired than inpatient-acquired (15 of 57 vs. 65 of 517 episodes, p 0.01). Prior exposure to fluconazole was uncommon (n=1). Candida dubliniensis was the commonest species (n=22, 39%), followed by Candida guilliermondii (n=11, 19%) and Candida lusitaniae (n=7, 12%).C. dubliniensis candidaemia was independently associated with recent intravenous drug use (p 0.01) and chronic liver disease (p 0.03), and infection with species other than C. dubliniensis was independently associated with age<65 years (p 0.02), male sex (p 0.03) and human immunodeficiency virus infection (p 0.05). Presence of sepsis at diagnosis and crude 30-day mortality rates were similar for C. dubliniensis-related, non-C. dubliniensis-related and C. albicans-related candidaemia. Haematological malignancy was the commonest predisposing factor in C. guilliermondii (n=3, 27%) and C. lusitaniae (n=3, 43%) candidaemia. The 30-day mortality rate of C. lusitaniae candidaemia was higher than the overall death rate for all uncommon Candida spp. (42.9% vs. 25%, p not significant). All isolates were susceptible to amphotericin B, voriconazole, posaconazole, and caspofungin; five strains (9%) had fluconazole MIC values of 16-32 mg/L. Candidaemia due to uncommon Candida spp. is emerging among hospital outpatients; certain clinical variables may assist in recognition of this entity. PMID:19614718

  15. Uncommon mucosal metastases to the stomach

    PubMed Central

    Kanthan, R; Sharanowski, K; Senger, JL; Fesser, J; Chibbar, R; Kanthan, SC

    2009-01-01

    Background Metastases to the stomach from an extra-gastric neoplasm are an unusual event, identified in less than 2% of cancer patients at autopsy. The stomach may be involved by hematogenous spread from a distant primary (most commonly breast, melanoma or lung), or by contiguous spread from an adjacent malignancy, such as the pancreas, esophagus and gallbladder. These latter sites may also involve the stomach via lymphatic or haematogenous spread. We present three cases of secondary gastric malignancy. Methods/Results The first is a 19-year-old male who received a diagnosis of testicular choriocarcinoma in September 2004. Metastatic malignancy was demonstrated in the stomach after partial gastrectomy was performed to control gastric hemorrhage. The second is a 75-year-old male, generally well, who was diagnosed with adenocarcinoma of the lung in September 2005. Poorly differentiated adenocarcinoma of the lung was demonstrated in a subsequent biopsy of "gastric polyps". The third is an 85-year-old man with no known history of malignancy who presented for evaluation of iron deficiency anemia by endoscopy in February 2006. Biopsies of the colonic and gastric mucosa demonstrated moderately differentiated invasive colonic adenocarcinoma with metastatic deposits in the stomach. Conclusion While the accurate recognition of these lesions at endoscopy is fraught with difficulty, pathological awareness of such uncommon metastases in the gastric mucosa is essential for accurate diagnosis and optimal patient management. PMID:19650900

  16. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 5 Administrative Personnel 1 2013-01-01 2013-01-01 false Uncommon tours of duty. 630.210 Section 630.210 Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT CIVIL SERVICE REGULATIONS ABSENCE AND LEAVE Definitions and General Provisions for Annual and Sick Leave § 630.210 Uncommon tours of duty....

  17. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 5 Administrative Personnel 1 2014-01-01 2014-01-01 false Uncommon tours of duty. 630.210 Section 630.210 Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT CIVIL SERVICE REGULATIONS ABSENCE AND LEAVE Definitions and General Provisions for Annual and Sick Leave § 630.210 Uncommon tours of duty....

  18. 5 CFR 630.210 - Uncommon tours of duty.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 5 Administrative Personnel 1 2012-01-01 2012-01-01 false Uncommon tours of duty. 630.210 Section 630.210 Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT CIVIL SERVICE REGULATIONS ABSENCE AND LEAVE Definitions and General Provisions for Annual and Sick Leave § 630.210 Uncommon tours of duty....

  19. 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

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

    PubMed

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

    2015-11-01

    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 1998–September 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

  1. 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

  2. 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

  3. 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

  4. 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

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

    PubMed Central

    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

  6. 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

  7. 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

  8. [Diencephalic syndrome: An uncommon cause of malnutrition].

    PubMed

    Moreno Villares, J M; Fernández Carrión, F; Gallego Fernández, M E; Muñoz González, A; Manzanares López-Manzanares, J; Rodrigo Alfageme, M

    2002-05-01

    Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction. Its main features are emaciation despite normal energy intake and an alert appearance. This syndrome has been described in association with space-occupying lesions of the hypothalamic-optic chiasm region, mainly low-grade glioma, and less often with tumors in the proximity of the IV ventricle. Two patients with DS are reported. The first patient was an 8-month old boy with classical features of DS. Extensive investigation of malabsorption revealed no abnormalities and the first neurologic sign was a rotatory nystagmus. Magnetic resonance imaging (MRI) showed evidence of a hypothalamic tumor, which was identified after surgical resection as a pilocytic astrocytoma. The second patient was an adolescent boy who presented a 20-kg weight loss over a 6-month period and psychological disturbances. Gastrointestinal disease was ruled out as a cause of malnutrition. Because of a polydipsia-polyuria syndrome, manifest while the patient was hospitalized with a suspected diagnosis of anorexia nervosa, MRI of the brain was performed. Multiple intracranial lesions were revealed, mainly in the hypothalamus, and were identified as a disseminated disgerminoma. No neurologic signs or symptoms were present. The patients died 2 years and 1 year after diagnosis, respectively. Although DS is rare, it should be considered in severe failure to thrive or emaciation despite adequate food intake and normal absorptive function of the small bowel. PMID:12042123

  9. 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

  10. 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…

  11. 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....

  12. 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…

  13. 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....

  14. At one time, operations outside the hospital were not uncommon.

    PubMed Central

    Morton, H S

    1995-01-01

    Before World War II, it was not uncommon for a person with influenza caused by streptococcus to develop empyema. Retired surgeon Harry Morton recalls two well-known patients who had empyema-related operations outside the hospital. Images p1654-a PMID:7489561

  15. Loeffler's Syndrome Following Cutaneous Larva Migrans: An Uncommon Sequel

    PubMed Central

    Podder, Indrashis; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2016-01-01

    Cutaneous larva migrans (CLM) is characterized by the formation of distinctive, tortuous, and serpentine skin lesions occurring as a result of epidermal burrowing by certain helminthic larvae. Although this condition is usually uneventful, rarely it may result in patchy pulmonary infiltration with peripheral eosinophilia, also called Loeffler's syndrome. This association is fairly uncommon and is thus being reported. PMID:27057020

  16. Loeffler's Syndrome Following Cutaneous Larva Migrans: An Uncommon Sequel.

    PubMed

    Podder, Indrashis; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2016-01-01

    Cutaneous larva migrans (CLM) is characterized by the formation of distinctive, tortuous, and serpentine skin lesions occurring as a result of epidermal burrowing by certain helminthic larvae. Although this condition is usually uneventful, rarely it may result in patchy pulmonary infiltration with peripheral eosinophilia, also called Loeffler's syndrome. This association is fairly uncommon and is thus being reported. PMID:27057020

  17. Sense, Relationship and Power: Uncommon Views of Place

    ERIC Educational Resources Information Center

    Taylor, Liz

    2004-01-01

    Liz Taylor invites history teachers to consider how diverse and "un"common the "common" person's experience of place might be. She draws upon cultural geography to show how words like "place", "space" and "landscape" can be unpacked and questioned and so become better tools for pupils' critical…

  18. Multiple evanescent white dot syndrome--an uncommon cause for an enlarged blind spot.

    PubMed

    Fong, K S; Fu, E R

    1996-11-01

    This report describes 3 cases of multiple evanescent white dot syndrome (MEWDS) which presented to the Singapore National Eye Centre over a 3-year period. MEWDS is an usual condition with distinct clinical features and typical findings on fundal fluorescein angiography. As the retinal lesions are transient, timing of examination is crucial for an accurate diagnosis. Usually only one eye is involved and recurrences are uncommon. Occasionally, signs of optic nerve disease may be the predominant feature. Although the aetiology remains unknown and no active treatment is required, the visual prognosis remains good. PMID:9055018

  19. Pulmonary Hypertension and Amyloidosis—an Uncommon Association: A Case Report and Review of the Literature

    PubMed Central

    Zisman, Devy; Wolf, Raffael; Bitterman, Haim

    2007-01-01

    Only a limited number of patients with amyloidosis and pulmonary hypertension have been reported in the literature. We report a 73-year-old female with AL type amyloidosis who developed respiratory insufficiency and right heart failure because of severe pulmonary hypertension. There were no signs of cardiac involvement with amyloid or findings consistent with interstitial lung disease. Previous reports of pulmonary hypertension without an apparent parenchymal lung or myocardial involvement with amyloidosis are summarized. Pulmonary hypertension due to deposition of amyloid in the pulmonary vasculature is an uncommon finding; however, it should be considered in cases of unexplained pulmonary hypertension in patients with amyloidosis. PMID:17356978

  20. Primary paraesophageal Ewing’s sarcoma: an uncommon case report and literature review

    PubMed Central

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

    2015-01-01

    Ewing’s 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 Ewing’s 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

  1. Necrotizing upper limb fasciitis in a newborn: an uncommon life-threatening event.

    PubMed

    Lebel, Ehud; Karasik, Michael; Shahroor-Karni, Sarit; Peyser, Amos

    2012-11-01

    Necrotizing fasciitis is an uncommon but life-threatening infection in the pediatric population. It is rarely reported in neonates. In these rare cases, the reported origin of infection was the umbilical cord stump, infection due to circumcision, and similar lesions. We hereby report a 3-week-old neonate sustaining necrotizing fasciitis without detectable origin of infection. We describe the clinical course of her illness, the diagnostic process, and eventual surgical intervention. We discuss the importance of awareness to this potentially lethal infectious disease and the need for urgent use of certain imaging modalities and aggressive surgical approach. PMID:22080297

  2. 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

  3. 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

  4. 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.

  5. Radiological features of uncommon aneurysms of the cardiovascular system

    PubMed Central

    Kalisz, Kevin; Rajiah, Prabhakar

    2016-01-01

    Although aortic aneurysms are the most common type encountered clinically, they do not span the entire spectrum of possible aneurysms of the cardiovascular system. As cross sectional imaging techniques with cardiac computed tomography and cardiac magnetic resonance imaging continue to improve and becomes more commonplace, once rare cardiovascular aneurysms are being encountered at higher rates. In this review, a series of uncommon, yet clinically important, cardiovascular aneurysms will be presented with review of epidemiology, clinical presentation and complications, imaging features and relevant differential diagnoses, and aneurysm management.

  6. Dermatomyositis and myastenia gravis: An uncommon association with therapeutic implications.

    PubMed

    Sangüesa Gómez, Clara; Flores Robles, Bryan Josué; Méndez Perles, Clara; Barbadillo, Carmen; Godoy, Hildegarda; Andréu, José Luis

    2015-01-01

    The association of dermatomyositis with myasthenia gravis (MG) is uncommon, having been reported so far in only 26 cases. We report the case of a 69 year-old man diagnosed with MG two years ago and currently treated with piridostigmyne. The patient developed acute proximal weakness, shoulder pain and elevated creatine-kinase (CK). He also developed generalized facial erythema and Gottron's papules. Laboratory tests showed positive antinuclear and anti-Mi2 antibodies. Further analysis confirmed CK levels above 1000 U/l. The clinical management of the patient and the therapeutic implications derived from the coexistence of both entities are discusssed. PMID:25498320

  7. 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

  8. Palmar-plantar erythrodysesthesia: An uncommon adverse effect of everolimus

    PubMed Central

    Arora, Shalabh; Akhil, Rajendra; Chacko, Raju Titus; George, Renu

    2016-01-01

    Mammalian target of rapamycin inhibitor everolimus is a novel agent used in endocrine therapy resistant hormone receptor positive metastatic breast cancer. Its use has been associated with clinically significant improvement in the otherwise dismal outcomes of this subset of patients. Rash is a common adverse effect associated with everolimus. However, Hand-foot syndrome is an uncommon toxicity with the use of this drug. We report a case of Grade 3 hand-foot syndrome following institution of everolimus therapy and describe its successful management. PMID:27168711

  9. Uncommon t12 burst fracture after an epileptic crisis.

    PubMed

    Alian, Akiki

    2011-01-01

    People having an epileptic crisis present to the hospital with an altered mental status and generalised fatigue. The most common orthopaedic pathology associated to epilepsy is the undiagnosed posterior shoulder dislocation. These same patients often complain from back pain that is often neglected and misdiagnosed as muscular contracture following the epilepsy crisis. We describe here the case of a patient who presented after here epilepsy crisis with back pain. Investigations revealed an uncommon burst fracture that needed a surgical treatment. Conclusion. Back pain after an epileptic crisis should be investigated more seriously with an adequate clinical examination and a minimum of a radiography of the back. PMID:23198223

  10. Uncommon T12 Burst Fracture after an Epileptic Crisis

    PubMed Central

    Alian, Akiki

    2011-01-01

    People having an epileptic crisis present to the hospital with an altered mental status and generalised fatigue. The most common orthopaedic pathology associated to epilepsy is the undiagnosed posterior shoulder dislocation. These same patients often complain from back pain that is often neglected and misdiagnosed as muscular contracture following the epilepsy crisis. We describe here the case of a patient who presented after here epilepsy crisis with back pain. Investigations revealed an uncommon burst fracture that needed a surgical treatment. Conclusion. Back pain after an epileptic crisis should be investigated more seriously with an adequate clinical examination and a minimum of a radiography of the back. PMID:23198223

  11. Primary Ewing's sarcoma of cervical vertebra: An uncommon presentation.

    PubMed

    Chhabra, Sonia; Singh, Sunita; Sethi, Divya; Mahapatra, Qury Sabita

    2014-04-01

    Ewing's sarcoma is a malignant primary bone tumor primarily seen in the long bones. Primary Ewing's sarcoma of the cranium is quite uncommon occurring in 1% of the cases. We report the occurrence of this rare lesion in a 24-year-old male presenting with progressively increasing swelling in left mastoid region mimicking a mastoid abscess which was later diagnosed on Fine needle aspiration cytology (FNAC) as a small round cell tumor as Ewing's sarcoma. Contrast enhanced computed tomography (CECT) revealed a typical moth eaten appearance in the first and second cervical vertebra. PMID:25126127

  12. 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

  13. Subtalar dislocation: management and prognosis for an uncommon orthopaedic condition.

    PubMed

    Prada-Cañizares, Alfonso; Auñón-Martín, Ismael; Vilá Y Rico, Jesús; Pretell-Mazzini, Juan

    2016-05-01

    Subtalar dislocations were first described in 1811 as the simultaneous dislocation of the talo-calcaneal and talo-navicular joints without any tibio-talar or talar neck associated fractures. They were classified in 1853 as: medial, lateral, posterior and anterior based on the displacement of the foot in relationship to the talus. These are uncommon injuries, representing approximately 1 % of all traumatic injuries of the foot and 1-2 % of all dislocations, being associated with high energy trauma.Closed reduction of these dislocations should be performed as early as possible to avoid further damage to the skin and neurovascular structures. If this is not possible, then open reduction without further delay is recommended. Irreducible injuries have been reported in 0 to 47 % of cases. Open dislocations represent between 46 and 83 % of all cases, and have been associated with poor prognosis. Associated fractures have a high incidence, the most frequent ones are the posterior process of the talus, talar head, external malleolus, medial malleolus and the tubercle of the fifth metatarsal.These types of injuries are not faced by orthopaedic surgeons on a daily basis and having a source of information on how to manage and what to expect is important. We present an up-to-date literature review on the epidemiology, clinical presentation, radiologic assessment, treatment options and prognostic factors of these uncommon injuries. PMID:26208589

  14. 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

  15. A Strategy towards the Multigram Synthesis of Uncommon Hexaarylbenzenes.

    PubMed

    Lungerich, Dominik; Reger, David; Hölzel, Helen; Riedel, René; Martin, Max M J C; Hampel, Frank; Jux, Norbert

    2016-04-25

    A novel rational synthetic pathway-the "functionalization of para-nitroaniline" (FpNA)-provides substituted hexaarylbenzenes (HABs) with uncommon symmetries that bear up to five different substituents, fully avoiding regioisomeric product distributions during the reactions. 4-Nitroaniline is functionalized by a cascade of electrophilic halogenations, Sandmeyer brominations, and Suzuki cross-coupling reactions, leading to 26 substitution geometries, of which 18 structures are not available by the current established techniques. Furthermore, we demonstrate that this method is applicable to the bulk production of such systems on a multigram scale. Regarding optoelectronic properties, we demonstrate how highly functionalized HABs can show strong luminescent behavior, making these molecules very attractive to organic electronic devices. PMID:27010964

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. Uncommon oral cleft in Wolf-Hirschhorn syndrome.

    PubMed

    Aquino, Sibele Nascimento de; Machado, Renato A; Paranaíba, Lívia Maris R; Coletta, Ricardo D; Aguiar, Marcos J Burle de; Fernandes, Cassandro; Martelli Júnior, Hercílio

    2015-01-01

    Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described. PMID:25831115

  2. Uncommon presentations of common pancreatic neoplasms: a pictorial essay.

    PubMed

    D'Onofrio, Mirko; De Robertis, Riccardo; Capelli, Paola; Tinazzi Martini, Paolo; Crosara, Stefano; Gobbo, Stefano; Butturini, Giovanni; Salvia, Roberto; Barbi, Emilio; Girelli, Roberto; Bassi, Claudio; Pederzoli, Paolo

    2015-08-01

    Pancreatic neoplasms are a wide group of solid and cystic lesions with different and often characteristic imaging features, clinical presentations, and management. Among solid tumors, ductal adenocarcinoma is the most common: it arises from exocrine pancreas, comprises about 90% of all pancreatic neoplasms, and generally has a bad prognosis; its therapeutic management must be multidisciplinary, involving surgeons, oncologists, gastroenterologists, radiologists, and radiotherapists. The second most common solid pancreatic neoplasms are neuroendocrine tumors: they can be divided into functioning or non-functioning and present different degrees of malignancy. Cystic pancreatic neoplasms comprise serous neoplasms, which are almost always benign, mucinous cystic neoplasms and intraductal papillary mucinous neoplasms, which can vary from benign to frankly malignant lesions, and solid pseudopapillary tumors. Other pancreatic neoplasms, such as lymphoma, metastases, or pancreatoblastoma, are rarely seen in clinical practice and have different and sometimes controversial managements. Rare clinical presentations and imaging appearance of the most common pancreatic neoplasms, both solid and cystic, are more frequently seen and clinically relevant than rare pancreatic tumors; their pathologic and radiologic appearances must be known to improve their management. The purpose of this paper is to present some rare or uncommon clinical and radiological presentations of common pancreatic neoplasms providing examples of multi-modality imaging approach with pathologic correlations, thus describing the histopathological bases that can explain the peculiar imaging features, in order to avoid relevant misdiagnosis and to improve lesion management. PMID:25772002

  3. "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

  4. Management of portal hypertension derived from uncommon causes

    PubMed Central

    Kim, Sung Hyun; Lee, Hae Min; Lee, Seung Ho; Won, Jong Yoon

    2016-01-01

    Portal hypertension can arise from any condition interfering with normal blood flow at any level within the portal system. Herein, we presented two uncommon cases of the portal hypertension and its treatment with brief literature review. A 71-year-old man who underwent right hemihepatectomy revealed a tumor recurrence adjacent to the inferior vena cava (IVC). After radiofrequency ablation (RFA) with lymph node dissection, he was referred for abdominal distension. The abdomen computed tomography scan showed severe ascites with a narrowing middle hepatic vein (MHV) and IVC around the RFA site. After insertion of two stents at the IVC and MHV, the ascites disappeared. Another 73-year-old man underwent right trisectionectomy of liver and segmental resection of the portal vein (PV). After operation, he underwent conservative management due to continuous abdominal ascites. The abdomen computed tomography scan showed severe ascites with obliteration of the left PV. After insertion of stent, the ascites disappeared. A decrease of the pressure gradient between the PV and IVC is one of the important treatment strategies for portal hypertension. Vascular stent is useful in the reduction of pressure gradient and thus, can be a treatment option for portal hypertension. PMID:27212996

  5. 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

  6. Cytodiagnosis of Epidermoid Cyst of the Upper Lip: A Common Lesion in an Uncommon Site

    PubMed Central

    Phukan, Jyoti Prakash; Sinha, Anuradha; Pal, Subrata; Jalan, Shilpa

    2014-01-01

    Epidermoid cyst and dermoid cysts are developmental pathologies thought to derive from aberrant ectodermal tissue. They are uncommon in the head and neck region. Rarely, they can be found in the oral cavity and buccal mucosa. However, epidermoid cyst is extremely uncommon in the upper lip and is rarely reported. In this study, we report an uncommon case of epidermoid cyst occurring in the upper lip diagnosed by fine-needle aspiration cytology (FNAC). We present this case because of its extremely rare site of presentation and also to highlight the role of FNAC to in the pre-operative diagnosis of this benign lesion. PMID:24696565

  7. Severe neurologic impairment and uncommon magnetic resonance imaging findings after carbon monoxide poisoning.

    PubMed

    Hoffmann, Clément; Bouix, Julien; Poyat, Chrystelle; Alhanati, Laure; Tourtier, Jean-Pierre; Falzone, Elisabeth

    2016-01-01

    Carbon monoxide poisoning is the most common cause of fatal poisoning worldwide and can lead to severe brain damages. We report a delayed encephalopathy after a severe carbon monoxide poisoning with uncommon magnetic resonance imaging findings. PMID:26078257

  8. Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome

    PubMed Central

    Graham, John M.; Kramer, Nancy; Bejjani, Bassem A.; Thiel, Christian T.; Carta, Claudio; Neri, Giovanni; Tartaglia, Marco; Zenker, Martin

    2009-01-01

    Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and clinical features suggestive of NS. High-resolution chromosome analysis was normal, and sequence analyses of PTPN11, SOS1, KRAS, BRAF, RAF1, MEK, and MEK2 were also normal. Array CGH revealed a single copy gain of 9 BAC clones at 12q24.11q24.21 (8.98 Mb in size), which encompassed the PTPN11 locus at 12q24.13 and was confirmed by FISH analysis. Shchelochkov et al., [2008] reported a similar case and speculated that such duplications might account for 15–30% of NS cases with no detectable mutation in NS genes. We screened more than 250 NS cases without mutation in known NS disease-causing genes by quantitative PCR, and none of these studies produced results in the duplicated range. We also explored the possibility that de novo changes affecting the untranslated region (UTR) of the PTPN11 transcript might represent an alternative event involved in SHP2 enhanced expression. DHPLC analysis and direct sequencing of the entire 3' UTR in 36 NS patients without mutation in known genes did not show any disease-associated variant. These findings indicate that duplications of PTPN11 represent an uncommon cause of NS, and functionally relevant variations within the 3'UTR of the gene do not appear to play a major role in NS. However, recurrent observations of NS in individuals with duplications involving the PTPN11 locus suggest that increased dosage of SHP2 may have dysregulating effects on intracellular signaling. PMID:19760651

  9. Wilms Tumor: An Uncommon Entity in the Adult Patient

    PubMed Central

    Mahmoud, Fade; Allen, M Brandon; Cox, Roni; Davis, Rodney

    2016-01-01

    Wilms tumor, the most common kidney tumor in children, is rarely seen in adults, making it a challenge for the adult oncologist to diagnose and treat. Unlike with renal cell carcinoma, patients with Wilms tumor should receive adjuvant chemotherapy with or without radiation therapy. Adult oncologists may not be familiar with pediatric oncology protocols, so it is important to consult with pediatric oncologists who have more experience in this disease. Multimodal therapy based on pediatric protocols improved the outcomes of adults with Wilms tumor worldwide. We report a rare case of a 24-year-old woman with a slow-growing mass of the left kidney during a 4-year period. The mass was surgically removed and final diagnosis confirmed by pathology to be Wilms tumor. The patient received adjuvant chemotherapy and has been free of disease since 2014. PMID:27043834

  10. Intraspinal hydatidosis with retroperitoneal extension: an uncommon location.

    PubMed

    Sarma, Yashdeep; Nair, Rajesh; Siddharth, Sankalp; Kumar, Vinod; Upadhyaya, Sunil; Shetty, Arjun

    2014-01-01

    Hydatidosis is a ubiquitous disease that is endemic in India. It most commonly involves the liver (75%) and lungs (15%) with only 10% occurring in the rest of the body. Primary hydatid cyst in the spinal canal is extremely rare. Intraspinal hydatid accounts for 0.5-1% of the cases and carries a poor prognosis. It presents as a diagnostic and therapeutic challenge. We present one such case of a 64-year-old man with associated radiculopathy and myelomalcia. PMID:25199198

  11. 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

  12. 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

  13. 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

  14. Sarcoidosis with an uncommon presentation: apropos of a case.

    PubMed

    Soylu, Alper; Türkmen, Mehmet; Kasap, Belde; Sarioğlu, Sülen; Saatçi, Ali Osman; Büyükgebiz, Benal; Kavukçu, Salih

    2004-01-01

    A 17-year-old male presenting with chronic renal failure whose supporting clinical manifestations of the disease had appeared independently over a four-year period is reported. The renal biopsy specimen of the patient revealed tubulointerstitial nephritis and membranous glomerulonephritis. He never had hilar adenopathy, but maculopapular rashes, erythema nodosum, arthritis, chronic lymphocytopenia, hepatomegaly, splenomegaly, and lymphadenomegaly had been observed at different periods over four years. The presence of non-caseating granulomatous lesions in the liver biopsy accompanying uveitis verified the diagnosis of sarcoidosis. Low dose steroid was applied to this hepatitis-C carrier, and uveitis was suppressed. No recurrence has been observed in two-year follow-up. PMID:15641274

  15. [Uncommon presentation of tuberous sclerosis in an infant].

    PubMed

    Denne, C; Gerstl, E-M; Mayer, K; Steinborn, M; Hahn, H; Burdach, S

    2011-06-01

    We report on an infant with an unusual presentation of tuberous sclerosis. After uncomplicated birth, a routine ultrasound was performed because the patient's brother had undergone nephrectomy at the age of four months due to multicystic renal dysplasia. All other family members were healthy. Multiple renal cysts were found in the boy's left kidney. The right kidney, which was normal initially, showed cysts after a few months. In a follow-up sonography at the age of 10 months, we found an aortic aneurysm measuring 4 × 7 cm. A brain NMR showed typical signs of tuberous sclerosis. Aortic aneurysm is very rarely associated with tuberous sclerosis. As a TSC2/PKD1 contiguous gene syndrome was excluded, in this case the child probably has two different diseases, i.e. tuberous sclerosis in addition to phenotypically unusual multicystic renal dysplasia. PMID:21514802

  16. Streptococcal pharyngitis: an uncommon cause of subdural empyema.

    PubMed

    Walden, Jeffrey Howard; Hess, Bryan; Rigby, Michael

    2015-01-01

    A 7-year-old girl with an unremarkable medical history presented to a local paediatric emergency department with a 7-day history of fever, sore throat and vomiting, and a 1-day history of rash. She was admitted to the hospital, with presumed Kawasaki disease. A few hours after admission, the patient had sudden onset of two witnessed tonic-clonic seizures and subsequent decreased mental status. She was transferred to the paediatric intensive care unit and started on broad-spectrum antibiotics. On hospital day 2, cerebral spinal fluid cultures and blood cultures grew Streptococcus pyogenes, and repeat physical examination was consistent with acute streptococcal pharyngitis. On hospital day 3, the patient developed left-sided hemiparesis and had another witnessed seizure. A CT scan was obtained and revealed a subdural abscess. She was transferred to a tertiary care centre and underwent craniotomy with evacuation of her subdural abscess. Surgical cultures eventually grew S. pyogenes. PMID:26385939

  17. 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

  18. 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

  19. 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

  20. An uncommon recurrence of an immature teratoma: A case report

    PubMed Central

    LI, XUELU; ZHU, DANDAN; LV, LI; YU, JIAN

    2016-01-01

    A 24-year-old female who was previously diagnosed with an immature, right ovarian teratoma was referred to The Second Hospital of Dalian Medical University (Dalian, China) due to abdominal pain. The patient had previously undergone a laparotomy and right ovarian oophorectomy. Despite this, at 10 years post-surgery, the patient developed extensive abdominal metastases, in conjunction with elevated serum cancer antigen (CA)-125 and CA19-9 levels. The patient had a high risk of recurrence, and the liver and spleen metastases were subsequently diagnosed as mature teratomas. In order to prevent the possibility of disease recurrence, frequent post-surgical follow-up, consisting of imaging analysis and the testing of serum markers, is required. Regarding the published literature, there have been no other patients presenting with a giant teratoma with associated metastasis. Due to the lack of regular follow-up appointments in China, the tumor in the present study was not recognized until too late. Therefore, to increase the successful detection of recurrent teratomas, a longer follow-up period is necessary for patients who present with a high risk of recurrence. PMID:27073497

  1. Papulonecrotic tuberculid of glans penis: A common disease at an uncommon site

    PubMed Central

    Dandale, Ameet L.; Dhurat, Rachita S.; Ghate, Smita S.

    2013-01-01

    A 65-year-old man presented with multiple asymptomatic papulo-pustules and ulcers over glans penis since last 1 year. The lesions used to resolve spontaneously in a few days with scarring. The clinical features and histopathology were suggestive of papulonecrotic tuberculids of the glans penis. PMID:24339467

  2. An Unusual Association in an Uncommon Disease: Two Cases of Spontaneous Pneumomediastinum Associated with Pneumorrhachis

    PubMed Central

    Martins, Luís; Dionísio, Patrícia; Moreira, Susana; Manique, Alda; Correia, Isabel; Bárbara, Cristina

    2016-01-01

    Pneumomediastinum, the presence of free air in the mediastinum, is described as spontaneous pneumomediastinum when there is no apparent cause such as trauma, surgery, interventional procedures, or intrathoracic infections. Pneumorrhachis is a rare clinical condition, consisting of intraspinal air. The main causes are iatrogenic, traumatic, and nontraumatic. Spontaneous mediastinum is usually associated with subcutaneous emphysema and, occasionally, with pneumothorax; however, its association with pneumorrhachis is extremely rare. Here, we present two rare cases of spontaneous pneumomediastinum associated with pneumorrhachis caused by vigorous coughing.

  3. PATHOLOGY IMAGE OF THE MONTH: Sudden Cardiac Death Caused by an Uncommon Disease.

    PubMed

    Li, Julie Y; Mcgoey, Robin R

    2015-01-01

    A 57-year-old female, found dead lying supine in bed, was transferred to the autopsy service for an unrestricted autopsy to be performed under the authorization by the coroner. Medical history was unknown. At the time of autopsy, an implantable cardioverter-defibrillator (ICD) was identified in the subcutaneous tissues of the left subclavicular chest, with distal leads terminating in a small amount of fibrous tissue within the right auricular appendage and along the medial wall of the right ventricle. The heart was enlarged at 430gm (312 ±78) and cross sections were notable for left ventricular hypertrophy at 1.9cm (1.0-1.5cm) and for dilatation of the right ventricular chamber on initial apical cross section. All cross sections, from cardiac apex to subvalvular base, showed broad patches of white-yellow myocardial discoloration, without obvious hemorrhage, along the free wall of the left ventricle, the free wall of the right ventricle, and within the anterior interventricular septum (Figure 1). Additional notable findings at autopsy included a vena caval filter devoid of thromboembolic material, a patent foramen ovale (0.7cm) and microscopic plexogenic arteriopathy, low grade, consistent with pulmonary hypertension within the intrapulmonary vasculature. Histology from the discolored patches of myocardium is seen in Figure 2. Special stains for microorgansims (periodic acid-Schiff, Gomori methanamine silver, and Fite) were all negative. PMID:25978060

  4. 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

  5. 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…

  6. 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

  7. 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%.

  8. 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

  9. 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…

  10. 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

  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. Necrotizing Fasciitis and Septic Shock Related to the Uncommon Gram-Negative Pathogen Sphingobacterium multivorum

    PubMed Central

    Doloy, A.; Fichet, J.; Bourgeois, E.; Zuber, B.; Wajsfisz, A; Mira, J. P.; Poyart, C.; Pène, F.

    2012-01-01

    We report the first case of necrotizing fasciitis due to the uncommon Gram-negative pathogen Sphingobacterium multivorum in an immunocompromised patient, who presented with septic shock. This case adds necrotizing fasciitis to the spectrum of S. multivorum-related infections and highlights the emergence of Gram-negative bacteria in severe soft tissue infections. PMID:22075581

  13. Necrotizing fasciitis and septic shock related to the uncommon gram-negative pathogen Sphingobacterium multivorum.

    PubMed

    Grimaldi, D; Doloy, A; Fichet, J; Bourgeois, E; Zuber, B; Wajsfisz, A; Mira, J P; Poyart, C; Pène, F

    2012-01-01

    We report the first case of necrotizing fasciitis due to the uncommon Gram-negative pathogen Sphingobacterium multivorum in an immunocompromised patient, who presented with septic shock. This case adds necrotizing fasciitis to the spectrum of S. multivorum-related infections and highlights the emergence of Gram-negative bacteria in severe soft tissue infections. PMID:22075581

  14. Dercum's disease (adiposis dolorosa).

    PubMed

    Reece, P H; Wyatt, M; O'Flynn, P

    1999-02-01

    Dercum's disease (adiposis dolorosa) is a rare condition characterized by progressively painful fatty deposits, usually, in menopausal women with obesity, asthenia and mental phenomena. We report a case of a 48-year-old woman with recurrent neck swelling and pain in the neck and parotid region, and a review of management of this uncommon problem. PMID:10396574

  15. 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

  16. [Acantholytic squamous cell carcinoma of larynx as an uncommon variant of squamous cell carcinoma].

    PubMed

    Tiken, Elif Eda; Çolpan Öksüz, Didem; Batur, Şebnem; Uzel, Esengül Koçak; Öz, Büge; Öz, Ferhan; Uzel, Ömer; Turkan, Sedat

    2016-01-01

    Acantholytic squamous cell carcinoma is an uncommon variant of squamous cell carcinoma. Acantholytic squamous cell carcinoma occurs in the sun-exposed areas of the skin and lip. It is rarely observed in the respiratory and digestive tract and may present more aggressively. The incidence of distant metastases of squamous cell head and neck cancers is low and the lungs are the most common metastatic sites. Metastasis to the soft tissue, skin, and adrenal glands from the laryngeal region is very uncommon. In this article, we report a 58-year-old female case who underwent postoperative radiation therapy with the diagnosis of acantholytic squamous cell carcinoma of the larynx and developed metastasis to the soft tissue and adrenal gland at the early period. PMID:27107606

  17. A Rare Case of Unrecognized and Uncommon Bladder Perforation after Transobturator Tape Procedure

    PubMed Central

    Kılınç, Ercüment; Akpak, Yaşam Kemal

    2015-01-01

    The transobturator tape (TOT) procedure has become practically widespread worldwide. Complications seem to be rare, but recognizing them intraoperatively is the most significant step because some of the complications which may appear in postoperative period can be challenging for both physicians and patients. The purpose of this case, with this patient who was operated on with open surgery, is to evaluate this rarely seen unrecognized and uncommon bladder perforation after TOT procedure and thus make some contribution to the literature. Here, we present a case report about the treatment of a 48-year-old woman patient with unrecognized and uncommon bladder perforation after TOT procedure, 5 months postoperatively. Cystoscopic evaluation is not recommended routinely, but it must be performed if the patient is complicated enough to create doubt and also the surgeon's skill and ability are not sufficient enough to operate decently. PMID:25685154

  18. 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

  19. Granulomatous appendicitis as an uncommon cause of abdominal pain. Description of a case.

    PubMed

    López Ramos, Carmen; Fuentes Coronel, Ana; Rodríguez Gómez, Santiago; Pinto Blázquez, Jesús

    2015-11-01

    Granulomatous appendicitis is an uncommon cause of acute abdomen. Its etiology can be infectious in nature, noninfectious or idiopathic. We present the case of a patient of whom we got to know about due to an urgent colonoscopy. At the cecum, the appendicular fold was thickened and the mucosa had erythema and nodularity. The diagnosis is made by pathology, as in the majority of cases in this entity. The surgical treatment is curative. PMID:26541661

  20. 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

  1. “Unsteady Gait”: An Uncommon Presentation and Course of Malignant Melanoma in Terminal Ileum—A Case Report and Review of Literature

    PubMed Central

    Alkimawi, Khalid A.

    2013-01-01

    Malignant melanoma within the gastrointestinal tract is an uncommon neoplasm that is usually metastatic in origin, with primary melanomas being relatively uncommon. Embryologically melanocytes normally exist in the esophagus, stomach, small bowel, and anorectum and this theory supports the primary melanoma of the gastrointestinal tract that has been confirmed for lesions occurring through several published reports. However, most patients with brain metastases from malignant melanoma are diagnosed after treatment for known extracranial metastases and have poor outcomes. Our case is unique in that we discuss an unusual case of 69-year-old female patient presented with unsteady gait as the first symptom of disease and where the presumed primary lesion later was found in the terminal ileum on colonoscopy. Treatment consisted of surgical removal of the terminal ileal lesion with chemotherapy, whole-brain radiotherapy, and cyberknife radiosurgical procedure. Patient was in remission for more than 14 months and later succumbed to disease. Despite the advances in therapeutic options, prognosis for patients with melanoma brain metastases remains poor with a median survival time of six months after diagnosis. PMID:24369513

  2. 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

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

    PubMed

    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

  4. 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

  5. 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

  6. 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

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

    PubMed Central

    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.; M. Maloney, Cliona; 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.; J. Meyer, Nuala; 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; 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.; D. Christie, Jason; 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

  8. 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

  9. 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

  10. 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 20–30 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

  11. 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

  12. Testicular infarction and rupture: an uncommon complication of epididymo-orchitis

    PubMed Central

    Chia, Daniel; Penkoff, Peter; Stanowski, Matthew; Beattie, Kieran; Wang, Audrey C.

    2016-01-01

    Epididymo-orchitis is a common diagnosis in men presenting with unilateral testicular pain. It can be of an infectious or non-infectious aetiology. Clinical examination and laboratory investigations do not reliably differentiate testicular infarction secondary to epididymo-orchitis from uncomplicated epididymo-orchitis. Definitive diagnosis is usually made by ultrasound. Misdiagnosis and under-treatment can lead to poor outcome, such as infarction and loss of the affected testis. We present an uncommon case of epididymo-orchitis resulting in testicular infarction and rupture despite normal initial investigations. PMID:27165751

  13. 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

  14. [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

  15. Uncommon virus infections of the mother, fetus, and newborn: influenza, mumps and measles.

    PubMed

    Korones, S B

    1988-06-01

    The literature contains reports of epidemics of varying sizes, which in the aggregate suggest that congenital malformations are not attributable to maternal measles infection during pregnancy, that the incidence of prematurity may be somewhat higher among infected mothers, and that the incidence of abortion also may be somewhat higher. Before the introduction of measles vaccine in this country, the universality of childhood experience rendered adult infection a rare event. Gestational measles was thus uncommon. With the introduction of measles vaccine, these numbers can be expected to have decreased substantially. PMID:3288423

  16. 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

  17. Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition.

    PubMed

    Rueda-Camino, José Antonio; Losada-Vila, Beatriz; De Ancos-Aracil, Cristina Lucía; Rodríguez-Lajusticia, Laura; Tardío, Juan Carlos; Zapatero-Gaviria, Antonio

    2016-06-01

    Small cell carcinoma (SCC) of the prostate is an uncommon condition; there are very few cases in which presenting symptoms are consistent with Cushing Syndrome (CS). We report a new case in which CS triggers the suspicion of an SCC of the prostate and a review of the published cases of SCC of the prostate presenting with CS. The origin of these neoplasms is still unclear. It may be suspected when laboratory features appear in patients diagnosed with prostatic adenocarcinoma which becomes resistant to specific therapy. SCC usually occurs after the 6th decade. Patients suffering SCC of the prostate presenting with CS usually present symptoms such as hypertension, hyperglycemia, alkalosis or hypokalemia; cushingoid phenotype is less frequent. Cortisol and ACTH levels are often high. Prostatic-specific antigen levels are usually normal. CT scan is the preferred imaging test to localize the lesion, but its performance may be improved by adding other tests, such as FDG-PET scan. All patients have metastatic disease at the time of diagnosis. Lymph nodes, liver and bone are the most frequent metastases sites. Surgery and Ketokonazole are the preferred treatments for CS. The prognosis is very poor: 2- and 5-year survival rates are 27.5 and 14.3%, respectively. Key messages When a patient presents with ectopic Cushing Syndrome but lungs are normal, an atypical localization should be suspected. We should suspect a prostatic origin if Cushing Syndrome is accompanied by obstructive inferior urinary tract symptoms or in the setting of a prostatic adenocarcinoma with rapid clinical and radiological progression with relatively low PSA levels. Although no imaging test is preferred to localize these tumors, FDG-PET-TC can be very useful. Hormone marker scintigraphy (e.g. somatostatin) could be used too. As Cushing Syndrome is a paraneoplastic phenomenon, treatment of the underlying disease may help control hypercortisolism manifestations. These tumors are usually metastatic by the time of diagnosis. They have very poor prognosis. PMID:27068390

  18. Complex papillary hyperplasia of the endometrium: an uncommon case report with cytopathological features and diagnostic implications.

    PubMed

    Rekhi, Bharat; Menon, Santosh; Maheshwari, Amita

    2015-02-01

    Papillary proliferations of the endometrium, without atypia have been uncommonly documented, including on cytology specimens. Herein, we present an uncommon case of a 55-year-old obese lady, on antihypertensive medications, who presented with history of irregular perimenopausal bleeding. A year ago, she was diagnosed with simple cystic hyperplasia on dilation and curettage specimen. Presently, she underwent endometrial aspiration. Cytology smears were prepared from the collected tissue specimen that was further submitted for histopathological analysis. Although the smears were initially diagnosed as negative for malignancy, the tissue sections were reported as a uterine papillary serous carcinoma (UPSC). Review of the smears revealed prominent overlapping clusters and papillary arrangements of relatively banal endometrial cells exhibiting focal metaplasia. Histopathology sections confirmed diagnosis of complex papillary hyperplasia (CPH). Immunohistochemical (IHC) stains reinforced this impression with diffuse estrogen receptor positivity, low Ki-67/MIB1, and lack of diffuse p53 immunostaining. Subsequent hysterectomy, at the time of intraoperative consultation showed a small residual focus of CPH, restricted to endometrium with intramural leiomyomas and adenomyosis. This case is presented to highlight the fact that despite lack of significant atypia, cytological features like overlapping, clustering, and papillary formations are indicators of papillary lesions of the endometrium, including CPH, especially in postmenopausal women. On histopathology, in spite of conspicuous papillary formations, lack of significant nuclear pleomorphism, and tumor invasion are helpful features in avoiding an overdiagnosis of UPSC in such cases. IHC stains are supportive. Correct identification has significant therapeutic implications. PMID:24825243

  19. 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 patient’s 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

  20. A case of parasymphyseal and associated insufficiency fractures of pubic rami in a patient with mixed connective tissue disease.

    PubMed

    Jung, J H; Jun, J B; Shim, S C; Kim, T H; Jung, S S; Lee, I H; Bae, S C; Yoo, D H; Joo, K B; Kim, S Y

    2000-07-01

    Parasymphyseal insufficiency fractures are uncommon. Furthermore, none have been reported in systemic rheumatic diseases other than rheumatoid arthritis. In this article we report on parasymphyseal insufficiency fractures in a patient with mixed connective tissue disease. PMID:10992733

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

    NASA Astrophysics Data System (ADS)

    McGuire, Patrick Charles; Díaz-Martínez, Enrique; Ormö, Jens; Gómez-Elvira, Javier; Rodríguez-Manfredi, José Antonio; Sebastián-Martínez, Eduardo; Ritter, Helge; Haschke, Robert; Oesker, Markus; Ontrup, Jörg

    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.

  2. 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

  3. Anterior cervical osteophytes causing dysphagia and dyspnea: an uncommon entity revisited.

    PubMed

    Giger, Roland; Dulguerov, Pavel; Payer, Michael

    2006-10-01

    Large anterior cervical osteophytes can occur in degeneration of the cervical spine or in diffuse idiopathic skeletal hyperostosis (DISH). We present the case of an 83-year-old patient with progressive dysphagia and acute dyspnea, necessitating emergency tracheotomy. Voluminous anterior cervical osteophytes extending from C3 to C7 and narrowing the pharyngoesophageal segment by external compression and bilateral vocal fold immobility were diagnosed radiologically and by fiberoptic laryngoscopy. Surgical removal of all osteophytes led to the resolution of symptoms. Dyspnea with or without dysphagia caused by hypertrophic anterior cervical osteophytes is an uncommon entity. The exhaustive diagnostic workup proposed in the literature could be simplified by using fiberoptic laryngoscopy and dynamic videofluoroscopy. The causes, treatment, and outcome are discussed. PMID:17216390

  4. 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

  5. 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

  6. Placental site nodule (PSN): an uncommon diagnosis with a common presentation

    PubMed Central

    Pramanick, Angsumita; Hwang, Wei Sek; Mathur, Manisha

    2014-01-01

    Placental site nodule (PSN) is a rare benign lesion of the intermediate trophoblast which is thought to represent incomplete involution of the placental implantation site. PSN usually presents as menorrhagia, intermenstrual bleeding or an abnormal Pap smear. PSN is benign, but it is important to distinguish it from the other benign and malignant lesions like decidua, placental polyp, exaggerated placental site and placental site trophoblastic tumour. Follow-ups of typical PSNs do not show recurrence or malignant potential. PSN is an uncommon condition which should be suspected in cases of abnormal bleeding, especially following uterine surgical procedures preceding last pregnancy. Timely diagnosis and treatment is necessary to differentiate it from potentially malignant placental lesions with a similar presentation. PMID:24695661

  7. 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

  8. Laparoscopic management of an uncommon cause for right lower quadrant pain: A case report

    PubMed Central

    Kavalakat, Alfie J; Varghese, Chalissery J

    2008-01-01

    Introduction Primary segmental infarction of the greater omentum is an infrequent cause for right lower quadrant pain. The exact aetiology is unknown and the right side is more commonly involved. It usually presents like acute appendicitis and the diagnosis is made during exploration. Case report We report such a case which was diagnosed and managed by laparoscopy. A 27-year-old male presented with features suggestive of acute appendicitis. Preoperative imaging failed to diagnose the condition. Laparoscopy showed a segment of oedematous and haemorrhagic greater omentum adherent to the parietal wall over the right lower quadrant. The infarcted segment was excised and removed in a non permeable bag through the umbilical port. A short edited video of the operative findings and the procedure executed is also provided. Conclusion Primary segmental infarction of the greater omentum is an uncommon cause of right lower quadrant pain mimicking appendicitis. Laparoscopy is both diagnostic as well as therapeutic. PMID:18801201

  9. 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

  10. 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

  11. 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

  12. Treatment of uncommon sites of focal primary hyperhidrosis: experience with pharmacological therapy using oxybutynin

    PubMed Central

    Teivelis, Marcelo Passos; Wolosker, Nelson; Krutman, Mariana; Kauffman, Paulo; de Campos, José Ribas Milanez; Puech-Leão, Pedro

    2014-01-01

    OBJECTIVES: Primary hyperhidrosis usually affects the hands, armpits, feet and cranio-facial region. Sweating in other areas is common in secondary hyperhidrosis (after surgery or in specific clinical conditions). Oxybutynin has provided good results and is an alternative for treating hyperhidrosis at common sites. Our aim was to evaluate the efficacy of oxybutynin as a treatment for primary sweating at uncommon sites (e.g., the back and groin). METHODS: This retrospective study analyzed 20 patients (10 females) who received oxybutynin for primary focal hyperhidrosis at uncommon sites. The subjects were evaluated to determine quality of life before beginning oxybutynin and six weeks afterward and they were assigned grades (on a scale from 0 to 10) to measure their improvement at each site of excessive sweating after six weeks and at the last consult. RESULTS: The median follow-up time with oxybutynin was 385 days (133-1526 days). The most common sites were the back (n = 7) and groin (n = 5). After six weeks, the quality of life improved in 85% of the subjects. Dry mouth was very common and was reported by 16 patients, 12 of whom reported moderate/severe dry mouth. Five patients stopped treatment (two: unbearable dry mouth, two: excessive somnolence and one: palpitations). At the last visit, 80% of patients presented with moderate/great improvement at the main sites of sweating. CONCLUSION: After six weeks, more than 80% of the patients presented with improvements in their overall quality of life and at the most important site of sweating. Side effects were common (80% reported at least one side effect) and caused 25% of the patients to discontinue treatment. Oxybutynin is effective for treating bothersome hyperhidrosis, even at atypical locations and most patients cope well with the side effects. PMID:25318092

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. Uncommon Pyrazoyl-Carboxyl Bifunctional Ligand-Based Microporous Lanthanide Systems: Sorption and Luminescent Sensing Properties.

    PubMed

    Li, Gao-Peng; Liu, Ge; Li, Yong-Zhi; Hou, Lei; Wang, Yao-Yu; Zhu, Zhonghua

    2016-04-18

    Seven new isostructural lanthanide metal-organic frameworks (Ln-MOFs), [Ln(Hpzbc)2(NO3)]·H2O (1-Ln, Ln = Nd(3+), Sm(3+), Eu(3+), Gd(3+), Tb(3+), Er(3+), and Yb(3+) ions, H2pzbc = 3-(1H-pyrazol-3-yl) benzoic acid), with one-dimensional (1D) channels decorated by nitrate anions and pyrazoyl groups have been constructed. 1-Ln, as revealed by structural analysis, represent uncommon microporous 3D Ln-pyrazoyl-carboxyl systems using pyrazoyl-carboxyl bifunctional ligands as bridges. The luminescent investigations show that 1-Eu is an excellent MOF-based fluorescent probe, with high sensitivity, selectivity, and simple regeneration, for environmentally relevant Fe(3+) and Cr2O7(2-) ions. 1-Eu also presents highly selective capture for CO2 over N2 and CH4 due to the multiple binding sites for CO2 molecules, which were supported by Grand Canonical Monte Carlo (GCMC) simulations. PMID:27022691

  20. 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.

  1. Acquired copy number alterations of miRNA genes in acute myeloid leukemia are uncommon.

    PubMed

    Ramsingh, Giridharan; Jacoby, Meagan A; Shao, Jin; De Jesus Pizzaro, Rigoberto E; Shen, Dong; Trissal, Maria; Getz, Angela H; Ley, Timothy J; Walter, Matthew J; Link, Daniel C

    2013-10-10

    Altered microRNA (miRNA) expression is frequently observed in acute myelogenous leukemia (AML) and has been implicated in leukemic transformation. Whether somatic copy number alterations (CNAs) are a frequent cause of altered miRNA gene expression is largely unknown. Herein, we used comparative genomic hybridization with a custom high-resolution miRNA-centric array and/or whole-genome sequence data to identify somatic CNAs involving miRNA genes in 113 cases of AML, including 50 cases of de novo AML, 18 cases of relapsed AML, 15 cases of secondary AML following myelodysplastic syndrome, and 30 cases of therapy-related AML. We identified a total of 48 somatic miRNA gene-containing CNAs that were not identified by routine cytogenetics in 20 patients (18%). All these CNAs also included one or more protein coding genes. We identified a single case with a hemizygous deletion of MIR223, resulting in the complete loss of miR-223 expression. Three other cases of AML were identified with very low to absent miR-223 expression, an miRNA gene known to play a key role in myelopoiesis. However, in these cases, no somatic genetic alteration of MIR223 was identified, suggesting epigenetic silencing. These data show that somatic CNAs specifically targeting miRNA genes are uncommon in AML. PMID:24009227

  2. 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

  3. 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

  4. 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.

  5. 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

  6. 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.

  7. 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

  8. 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

  9. Uncommon functional properties of the first piscine 26S proteasome from the Antarctic notothenioid Trematomus bernacchii.

    PubMed

    Gogliettino, Marta; Balestrieri, Marco; Riccio, Alessia; Facchiano, Angelo; Fusco, Carmela; Palazzo, Vincenzo Cecere; Rossi, Mosè; Cocca, Ennio; Palmieri, Gianna

    2016-04-01

    Protein homoeostasis is a fundamental process allowing the preservation of functional proteins and it has a great impact on the life of the Antarctic organisms. However, the effect of low temperatures on protein turnover is poorly understood and the cold-adaptation of the degradation machinery remains an unresolved issue. As the 26S proteasome represents the main proteolytic system devoted to the controlled degradation of intracellular proteins, the purpose of the present study was to investigate the functions of this complex in the notothenioid Trematomus bernacchii, in order to better understand its role in the physiology of Antarctic fish. To this aim, we purified and characterized the 26S proteasome from T. bernacchii and isolated the cDNAs codifying seven of the 14 subunits belonging to the proteasome 20S core particle. Results provided evidences of the high resistance of the piscine 26S proteasome to oxidative agents and of its 'uncommon' ability to efficiently hydrolyse oxidized bovine serum albumin (BSA), suggesting that this enzymatic complex could play a key role in the antioxidant defense systems in fish inhabiting permanently cold marine environments. These unique properties were also reflected by the 3D model analysis, which revealed a higher structural stability of the piscine complex respect to the murine template. Finally, a comparative analysis, performed in a variety of tissues collected from T. bernacchii and the temperate fish Dicentrarchus labrax, showed a lower protein retention in the cold-adapted fish, possibly due to a better efficiency of its degradation machinery. PMID:26933238

  10. 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

  11. 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…

  12. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    PubMed Central

    Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; 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

  13. 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

  14. 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

  15. Phylogenetic relationships of five uncommon species of Lasiosphaeria and three new species in the Helminthosphaeriaceae (Sordariomycetes).

    PubMed

    Miller, Andrew N; Huhndorf, Sabine M; Fournier, Jacques

    2014-01-01

    In an ongoing effort to monograph the genus Lasiosphaeria, it is desirable to obtain estimates of the phylogenetic relationships for five uncommon species, L. coacta, L. munkii, L. punctata, L. sphagnorum and L. stuppea. Three additional species previously placed in Lasiosphaeria, Echinosphaeria canescens, Hilberina caudata and Ruzenia spermoides, also were included in this study as well as three undescribed species. These species were believed to have relations elsewhere based on various ambiguous morphological characters, so an independent dataset from one or more genes was used to resolve their phylogenetic affinities. Sequences from the nuclear ribosomal 28S large subunit (LSU) and β-tubulin genes were generated for these taxa. Maximum likelihood and Bayesian analyses indicated these taxa form a well supported monophyletic group with members of the Helminthosphaeriaceae and therefore, should be transferred out of Lasiosphaeria. Except for Helminthosphaeria gibberosa, Hilberina elegans, Ruzenia spermoides and Synaptospora plumbea, all taxa within this clade possess ascomata with distinct thick-walled setae. Based on a combination of morphological and molecular data, Helminthosphaeria tomaculum, Helminthosphaeria triseptata and Hilberina robusta are described as new and four new combinations are proposed: Helminthosphaeria ludens, Hel. stuppea, Hilberina punctata and H. sphagnorum. Ten new combinations are proposed based on morphological data: Echinosphaeria heterostoma, Helminthosphaeria flavocompta, Hel. gibberosa, Hel. heterotricha, Hilberina breviseta, H. elegans, H. foliicola, H. meznaensis, H. moseri and H. rhynchospora. Lasiosphaeria coacta is placed in synonymy with Hel. ludens and the previous transfer of Hilberina munkii is accepted. Synaptospora plumbea was found to belong in the family. Illustrations are provided for most Helminthosphaeriaceae taxa seen in this study. PMID:24871607

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy

    PubMed Central

    Nagappa, Madhu; Taly, Arun B.; Mahadevan, Anita; Pooja, Mailankody; Bindu, Parayil Sankaran; Chickabasaviah, Yasha T.; Gayathri, Narayanappa; Sinha, Sanjib

    2015-01-01

    Tangier disease is a rare metabolic disorder that 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 diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. PMID:26713019

  2. 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 4 years 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 32 months 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

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

    PubMed

    Meyersburg, D; Schön, 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

  4. 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

  5. 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

  6. 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

  7. Extraskeletal osteosarcoma: An uncommon variant with rare metastatic sites detected with FDG PET/CT

    PubMed Central

    Puranik, Ameya D.; Purandare, Nilendu C.; Bal, Munita M.; Shah, Sneha; Agrawal, Archi; Rangarajan, Venkatesh

    2014-01-01

    Extraskeletal osteosarcoma (ESOS) is a rare malignancy, which commonly presents with metastatic disease. Like their osteogenic counterparts, these tumors commonly metastasize to lungs and bones. We report the fluoro-deoxyglucose positron emission tomography findings in a case of ESOS presenting with a combination of rare metastatic sites such as brain, kidney and the bone marrow. PMID:25006295

  8. Arrhythmogenic right ventricular dysplasia: an uncommon cause of ventricular tachycardia in young and old?

    PubMed Central

    McLay, J S; Norris, A; Campbell, R W; Kerr, F

    1993-01-01

    Right ventricular dysplasia is a little understood condition and is almost certainly underdiagnosed as an important cause of recurrent ventricular tachycardia and sudden death. This report describes two patients with right ventricular dysplasia. Their clinical presentation reflects the remarkable diversity of the disease while the potentially life-threatening nature of their arrhythmias and their lack of response to medical treatment justified the antiarrhythmic surgical procedure of right ventricular disarticulation. PMID:8435242

  9. 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.

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

    PubMed

    Lee, Dae-Hee; Jeong, Tae-Wan

    2016-03-01

    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. PMID:26955617

  11. 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

  12. Retroperitoneal fibrosis with large-vessel obstruction. An uncommon vascular disorder.

    PubMed

    Mathew, C V; Shanabo, A; Zyka, I; Eklöf, B

    1985-01-01

    Five cases are presented in which retroperitoneal fibrosis had entrapped the inferior vena cava and/or aorta and caused occlusive vascular disease. The diagnosis was known preoperatively in two cases and was made at laparotomy in the others. The fibrosis in one case was caused by abdominal tuberculosis. In another case it was most probably secondary to an earlier trauma to the back. No cause could be established in the other three cases. CT scanning is valuable for identifying the lesion. Venous thrombectomy with arteriovenous fistula formation was successful in cases presenting with deep venous thrombosis. PMID:4050279

  13. 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. PMID:26955617

  14. 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

  15. 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 José; Camargo de Souza, Dilair; Riedi, Carlos Antônio; 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

  16. Viral diseases of the ruminant nervous system.

    PubMed

    Callan, Robert J; Van Metre, David C

    2004-07-01

    This article presents the etiology, epidemiology, clinical features,and diagnosis of the primary viral neurologic diseases observed in ruminants. In general, these viral neurologic diseases are uncommon but often fatal. Rabies virus is perhaps the most important cause of encephalitis in cattle because of the public health implications. Other viral encephalitis diseases in ruminants include bovine herpesvirus encephalomyelitis, pseudorabies, malignant catarrhal fever, ovine and caprine lentiviral encephalitis, West Nile virus encephalitis, Borna disease, paramyxoviral sporadic bovine encephalomyelitis,and ovine encephalomyelitis (louping-ill). PMID:15203229

  17. Molecular genetics and immunohistochemistry characterization of uncommon and recently described renal cell carcinomas.

    PubMed

    Rao, Qiu; Xia, Qiu-Yuan; Cheng, Liang; Zhou, Xiao-Jun

    2016-02-01

    Renal cell carcinoma (RCC) compromises multiple types and has been emerging dramatically over the recent several decades. Advances and consensus have been achieved targeting common RCCs, such as clear cell carcinoma, papillary RCC and chromophobe RCC. Nevertheless, little is known on the characteristics of several newly-identified RCCs, including clear cell (tubulo) papillary RCC, Xp11 translocation RCC, t(6;11) RCC, succinate dehydrogenase (SDH)-deficient RCC, acquired cystic disease-associated RCC, hereditary leiomyomatosis RCC syndrome-associated RCC, ALK translocation RCC, thyroid-like follicular RCC, tubulocystic RCC and hybrid oncocytic/chromophobe tumors (HOCT). In current review, we will collect available literature of these newly-described RCCs, analyze their clinical pathologic characteristics, discuss their morphologic and immunohistologic features, and finally summarize their molecular and genetic evidences. We expect this review would be beneficial for the understanding of RCCs, and eventually promote clinical management strategies. PMID:27041925

  18. Molecular genetics and immunohistochemistry characterization of uncommon and recently described renal cell carcinomas

    PubMed Central

    Rao, Qiu; Xia, Qiu-Yuan; Cheng, Liang

    2016-01-01

    Renal cell carcinoma (RCC) compromises multiple types and has been emerging dramatically over the recent several decades. Advances and consensus have been achieved targeting common RCCs, such as clear cell carcinoma, papillary RCC and chromophobe RCC. Nevertheless, little is known on the characteristics of several newly-identified RCCs, including clear cell (tubulo) papillary RCC, Xp11 translocation RCC, t(6;11) RCC, succinate dehydrogenase (SDH)-deficient RCC, acquired cystic disease-associated RCC, hereditary leiomyomatosis RCC syndrome-associated RCC, ALK translocation RCC, thyroid-like follicular RCC, tubulocystic RCC and hybrid oncocytic/chromophobe tumors (HOCT). In current review, we will collect available literature of these newly-described RCCs, analyze their clinical pathologic characteristics, discuss their morphologic and immunohistologic features, and finally summarize their molecular and genetic evidences. We expect this review would be beneficial for the understanding of RCCs, and eventually promote clinical management strategies. PMID:27041925

  19. Chronic cluster-like headache secondary to prolactinoma: uncommon cephalalgia in association with brain tumors.

    PubMed

    Benitez-Rosario, Miguel A; McDarby, Geraldine; Doyle, Ray; Fabby, Carol

    2009-02-01

    Headache is a common and disabling aspect of pituitary disease. Chronic and episodic migraine are the most common clinical syndromes of headaches related to pituitary tumors, although other types of headache, such as trigeminal autonomic cephalalgias (TACs), can also be present. TACs include short-lasting, unilateral neuralgiform headache attacks with conjunctival injection and tearing; paroxysmal hemicrania; and cluster headache. We report on a patient with a chronic cluster-like headache associated with a macroprolactinoma. Although cabergoline, pregabalin, and corticosteroids were not effective as preventive treatments, high-dose verapamil showed good efficacy. Morphine and octreotide were efficacious as abortive treatments for attacks, but pain was only partially responsive to oxygen and refractory to subcutaneous sumatriptan. PMID:18694630

  20. Anti-c (Little c) IgM: An Uncommonly Observed but Expected Phenomenon.

    PubMed

    George, Alan A; Simon, Clayton D

    2014-01-01

    The c-antigen (little c) is part of the Rh blood group system and is found in approximately 80% of the United States population. Anti-c antibody develops in individuals sensitized through previous exposure and is associated with acute and delayed hemolytic transfusion reactions as well as hemolytic disease of the newborn (HDN). Most antibodies produced against Rh antigens are of the immunoglobulin (Ig) G type. We present a case of anti-c in a 30-year-old white woman who was gravida 2 para 1 (G2P1), whose laboratory workup at the time of admission for delivery suggests recent exposure and seroconversion in the latter part of her pregnancy, with evidence of the expected but rarely demonstrated presence of anti-c IgM and IgG. PMID:25378526

  1. 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

  2. Uncommon branching pattern with a prominent articular ramus of the inferior gluteal artery in a Korean male cadaver

    PubMed Central

    Eun, Heung Kee; Chung, Hee Sup

    2014-01-01

    We found a rare case of uncommon branching pattern with a prominent articular ramus of the inferior gluteal artery in a 39-year-old Korean male cadaver, whose cause of death was rectal carcinoma. The inferior gluteal artery branches off downwards at a time, the muscular rami ran in parallel with one another, and the articular ramus gave another muscular branch and has an anastomosis with the medial circumflex femoral artery. Knowledge of vascular variations in the gluteal region may give useful information of versatile flaps for reconstruction and the prominent articular ramus found in this case is good enough to consider the existence of the anastomosis between the medial circumflex femoral artery and the inferior gluteal artery as normal, not rudimentary PMID:24987553

  3. Molecular cytogenetic studies characterizing a novel complex karyotype with an uncommon 5q22 deletion in childhood acute myeloid leukemia.

    PubMed

    de Figueiredo, Amanda Faria; Capela de Matos, Roberto Rodrigues; Othman, Moneeb A K; Liehr, Thomas; da Costa, Elaine Sobral; Land, Marcelo Geradin Poirot; Ribeiro, Raul C; Abdelhay, Eliana; Silva, Maria Luiza Macedo

    2015-01-01

    Deletions in the long arm of chromosome 5 or loss of the whole chromosome are rare in childhood Acute Myeloid Leukemia (AML) patients. It is also unknown if the wide variety of breakpoints have diverging implications in the patient's outcome. Despite -5/5q- abnormalities have usually been described as a poor prognostic feature, however, the low frequency of -5/5q- in pediatric AML patients limits a full knowledge about this cytogenetic and clinical category, which is an intriguing factor for further research and new findings. Here, we report an AML child showing an uncommon deletion in 5q associated with 2 new abnormalities involving chromosome 2 within a complex karyotype well-characterized by several molecular cytogenetic approaches. Our work stimulates upcoming studies with more detailed descriptions about 5q abnormalities to better define its role in the stratification risk of such cytogenetic subgroup in childhood AML. PMID:26257826

  4. 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.

  5. Dorsalis pedis artery pseudoaneurysm: an uncommon cause of soft tissue mass of the dorsal foot in children.

    PubMed

    Bozio, G; Tronc, F; Douek, P; Bozio, A; Louis, D

    2009-04-01

    Pseudoaneurysm of the dorsalis pedis artery is an extremely rare entity with only 3 pediatric cases previously presented in the English literature. We describe a new case and discuss the clinical presentation and surgical management. A 6-year-old boy was referred to our clinic because of a pulsatile tumor of the right dorsal foot increasing in size. A focused history found a low grade trauma to the dorsal foot one year previously. Magnetic resonance imaging revealed a pseudoaneurysm of the DPA. Resection of the pseudoaneurysm was completed without complications. Pseudoaneurysm of the DPA is a very uncommon cause of soft tissue mass of the dorsal foot. It can appear after low grade trauma. Treatment is surgical. PMID:19242907

  6. 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

  7. 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.

  8. Grave's Disease and Primary Biliary Cirrhosis—An Unusual and Challenging Association

    PubMed Central

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2013-01-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial. PMID:25755537

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

    PubMed

    Fernandes, Bianca Furlan; Moraes, Érika Neves de Souza; de Oliveira, Francini Rossetto; Benevides, Gabriel Núncio; 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

  10. 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

  11. An Uncommon Cause of Bilateral Pulmonary Nodules in a Long-Term Smoker

    PubMed Central

    Panda, Mukta

    2007-01-01

    Background Dyspnea caused by pulmonary disease is a common symptom encountered by Internists. The most likely diagnosis of pulmonary nodules in a long-term smoker is lung cancer. Patient/Participant We report a case of an elderly male with a 70-pack-year smoking history, presenting with exertional dyspnea for 6 months. Interventions Detailed review of history was negative. Examination was normal except for diminished breath sounds in all lung fields. Chest x-ray showed bilateral nodular opacities. Computed tomography of thorax revealed multiple bilateral lung masses. A whole-body positron emission tomography revealed enhancement only of the pulmonary masses. Bronchoalveolar lavage was negative for acid fast bacilli, nocardia, and fungi. Main Results Lung biopsy showed findings consistent with amyloidosis. Bone marrow biopsy done to investigate primary amyloidosis showed no clonal plasma cells or amyloid staining, thus suggesting a diagnosis of localized pulmonary amyloidosis. Patient is being managed conservatively with close follow-up for signs of progression. PMID:17846845

  12. Nutrient composition, phenolic content and free radical scavenging activity of some uncommon vegetables of Pakistan.

    PubMed

    Khattak, Khanzadi Fatima

    2011-07-01

    Vegetables play a vital role in the prevention of human disease and in the improvement of general health as these contain vitamins, amino acids, fiber, antioxidants and minerals. In the present study, some less familiar vegetables of Pakistan namely chickpea (leaves), chungah (shoots), drumstick tree (inflorescences), radish (fruit pods), mountain ebony (flower buds), mustard (leaves), purslane (leaves) and white goosefoot (leaves and shoots) were evaluated for proximate composition, mineral content, phenolic content and free radical scavenging activity. The protein, fat, fiber, carbohydrate and ash contents of the selected vegetables were in the range of 2.9 to 6.6%, 0.2 to 2.5%, 2.4 to 8.6%, 9.7 to 20.1% and 1.0 to 2.3%, respectively. The concentration of vitamin C ranged between 32.6 to 120.1 mg/100 g. The phosphorus, calcium, iron, zinc, manganese, magnesium and copper were 190 to 3400, 103 to 987, 19 to 93, 12 to 47, 9 to 121, 299 to 1635 and non detectable level to 42 mg/kg, respectively. The amount of total phenolic content varied from 55.3 to 221.0 mg/g in the dry methanolic extracts of the studied plants. The EC(50) values were below 1400 μg/ml, indicating that all the studied vegetables have good scavenging effect on DPPH radical. PMID:21715260

  13. 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. PMID:27022543

  14. 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…

  15. 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

  16. 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

  17. 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...

  18. The avian pancreas in health and disease.

    PubMed

    Pilny, Anthony A

    2008-01-01

    The avian endocrine pancreas shares some similarities with mammals but also some clinically relevant differences in anatomy and physiology. Diabetes mellitus, an uncommon disease of pet birds, is a challenging condition because of lack of knowledge of the exact pathophysiology and responses to insulin therapy. This article reviews the anatomy and physiology of the avian pancreas and describes the etiology, diagnosis, and treatment of diabetes mellitus in pet birds. PMID:18165136

  19. 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

  20. 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

  1. 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

  2. Simultaneous presentation of coeliac disease and ulcerative colitis in a child.

    PubMed

    Day, A S; Abbott, G D

    1999-04-01

    Coeliac disease and inflammatory bowel disease (IBD) individually are not uncommon in children, but the occurrence of both conditions together is rare. The combined presentation of coeliac disease and IBD in a girl of 7 years is presented with a review of the related literature. The occurrence of coeliac disease with IBD should be considered at the time of diagnosis and at relapse, or where there is difficulty maintaining remission in established IBD. Screening with serum antibody tests may be helpful. PMID:10365362

  3. 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.

  4. 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

  5. Highly destructive perianal Crohn's disease.

    PubMed Central

    Shetty, A. K.; Udall, J.; Schmidt-Sommerfeld, E.

    1998-01-01

    This article reports a case of highly destructive perianal Crohn's disease in a 15-year-old boy who presented with fecal impaction and incontinence. Both upper and lower gastrointestinal tract endoscopy were unrevealing. Treatment with intravenous prednisolone and broad-spectrum antibiotics supplemented by enteral feeding with an elemental diet resulted in prompt recovery. However, healing of his perianal lesions began only after a diverting colostomy. Awareness of this uncommon entity is important because prompt recognition can lead to early institution of appropriate treatment and avoid further morbidity. PMID:9727293

  6. 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

  7. 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

  8. 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

  9. 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…

  10. 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

  11. Perioperative allergy: uncommon agents.

    PubMed

    Caimmi, S; Caimmi, D; Cardinale, F; Indinnimeo, L; Crisafulli, G; Peroni, D G; Marseglia, G L

    2011-01-01

    Anesthesia may often be considered as a high-risk procedure and anaphylaxis remains a major cause of concern for anesthetists who routinely administer many potentially allergenic agents. Neuromuscular blocking agents, latex and antibiotics are the substances involved in most of the reported reactions. Besides these three agents, a wide variety of substances may cause an anaphylactic reaction during anesthesia. Basically all the administered drugs or substances may be potential causes of anaphylaxis. Among them, those reported the most in literature include hypnotics, opioids, local anesthetics, colloids, dye, Non-Steroidal Anti-Inflammatory Drugs (NSAIDs), Iodinated Contrast Media (ICM), antiseptics, aprotinin, ethylene oxyde and formaldehyde, and protamine and heparins. No premedication can effectively prevent an allergic reaction and a systematic preoperative screening is not justified for all patients; nevertheless, an allergy specialist should evaluate those patients with a history of anesthesia-related allergy. Patients must be fully informed of investigation results, and advised to provide a detailed report prior to future anesthesia. PMID:22014927

  12. 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…

  13. The Uncommon Core

    ERIC Educational Resources Information Center

    Ohler, Jason

    2013-01-01

    This author contends that the United States neglects creativity in its education system. To see this, he states, one may look at the Common Core State Standards. If one searches the English Language Arts and Literacy standards for the words "creative," "innovative," and "original"--and any associated terms, one will find scant mention of the words…

  14. [Dercum's disease: a severe complication in a rare disease. A case report].

    PubMed

    Haddad, D; Athmani, B; Costa, A; Cartier, S

    2005-06-01

    Dercum's disease or adiposis dolorasa is unusual and unknown. Four symptoms are typical. It is characterized by painful subcutaneous fatty tumors in postmenopausal woman. We present this disease through the study of an uncommon clinical case: a sceptic choc following the "steato-cutaneous-necrosis" of a fatty tumor. The disease remains rare. The etiology is to this day unknown and different hypothesis (endocrinous, metabolic, genetics) are put forward. Multiple complications can occur but severe septicemia is rare. The treatment can be medical (loss of weight, corticoids, intravenous lidocaine) or surgical (surgical excision or liposuction). PMID:15963847

  15. Immunologically mediated oral diseases

    PubMed Central

    Jimson, Sudha; Balachader, N.; Anita, N.; Babu, R.

    2015-01-01

    Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient. PMID:26015713

  16. Male Zuska's disease

    PubMed Central

    Johnson, Shepard P; Kaoutzanis, Christodoulos; Schaub, George A

    2014-01-01

    Subareolar abscess of the male breast is a rare condition, which can be complicated by a fistula from the areolar skin into a lactiferous duct. In 1951, Zuska et al first characterised this entity in women. Literature on mammillary fistulas in men is scarce and therefore standardisation of treatment does not exist. We present two cases of recurrent subareolar abscesses with draining fistulas. Both patients were successfully treated by complete excision of the lactiferous duct fistula, and continue to do well with no evidence of disease recurrence. When male patients present with a draining subareolar abscess, one should have a high index of suspicion for a mammillary fistula. Failure to identify and surgically excise the fistula may lead to recurrence of the abscess and prolonged morbidity. The most effective management of this uncommon entity includes complete excision of the lactiferous duct fistula. PMID:24706699

  17. 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

  18. 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

  19. Current diagnosis and treatment of Castleman's disease.

    PubMed

    González García, A; Moreno Cobo, M Á; Patier de la Peña, J L

    2016-04-01

    Castleman's disease is not just a single disease but rather an uncommon, heterogeneous group of nonclonal lymphoproliferative disorders, which have a broad spectrum of clinical expression. Three histological types have been reported, along with several clinical forms according to clinical presentation, histological substrate and associated diseases. Interleukin-6, its receptor polymorphisms, the human immunodeficiency virus and the human herpes virus 8 are involved in the etiopathogenesis of Castleman's disease. The study of this disease has shed light on a syndrome whose incidence is unknown. Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment. PMID:26749192

  20. 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

  1. Chronic granulomatous disease mimicking early-onset Crohn’s disease with cutaneous manifestations

    PubMed Central

    2014-01-01

    Background Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered. Case presentation We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn’s disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed. Conclusion This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life. PMID:24947584

  2. 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

  3. 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 ...

  4. Hemorrhagic chondrosarcoma in a patient with Ollier disease: Case report and literature review

    PubMed Central

    Hughes, Marion Alicia; Delfyett, William; Gardner, Paul; Arvanitis, Leonidas; Rath, Tanya

    2015-01-01

    We present a rare case of skull-base hemorrhagic chondrosarcoma in a patient with Ollier disease. Chondrosarcomas complicated by intracranial hemorrhage are very uncommon, with few reported cases in the literature. To our knowledge, this is the first such reported case.

  5. Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child

    PubMed Central

    Kalra, Brahma Prakash; Bhat, Nowneet Kumar; Wasim, Sanobar

    2016-01-01

    Hepatoblastoma is an uncommon malignant liver tumour diagnosed usually during the first three years of life. It presents as abdominal mass with elevated alpha fetoprotein levels. The definite diagnosis requires histopathological confirmation. Although conditions like Familial Adenomatous Polyposis (FAP) or Beckwith-Wiedman Syndrome may be associated with hepatoblastomas, storage disorders are uncommonly documented. We describe a rare case of hepatoblastoma with co-existent glycogen storage disease in an infant male who presented with a progressively increasing mass in abdomen along with failure to thrive.

  6. 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

  7. 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

  8. Toxic dilatation in Crohn disease with CT correlation.

    PubMed

    Siskind, B N; Burrell, M I; Klein, M L; Princenthal, R A

    1985-01-01

    We describe the CT appearance of toxic dilatation in a patient with Crohn disease. The CT manifestations of this uncommon but important entity have not been previously described. The involved portion of the colon was mildly dilated and demonstrated pseudopolyp formation. Bowel wall thickening in this segment was minimal as expected in toxic dilatation. Intramural gas was identified representing pneumatosis intestinalis, an ominous sign in this condition. PMID:3968266

  9. 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

  10. 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

  11. Twiddler (or Not) Syndrome: Questioning etiology for an uncommon form of hardware malfunction in deep brain stimulation

    PubMed Central

    Silva, Pedro Alberto; Chamadoira, Clara; Costa, Henrique; Linhares, Paulo; Rosas, Maria José; Vaz, Rui

    2014-01-01

    Background: Hardware failure or malfunction after deep brain stimulation is an infrequent but costly occurrence with currently available systems. Case Description: The authors present the case of a 65-year-old female patient with predominantly tremoric Parkinson's disease who, 4 months after bilateral subthalamic nucleus stimulation with very good clinical results, began to display signs of recurrent disease and an increasingly smaller response to stimulation. Radiological studies, changes in electrode impedance and surgical findings and results established the diagnosis of Twiddler syndrome. Close patient follow-up, lack of a psychiatric history and physical examination findings were, however, contrary to the previously described causative mechanism. Conclusion: The clinical and radiological setup of Twiddler syndrome must be readily recognized. Its causative mechanism should remain under discussion, and intraoperative technical details may help to explain its occurrence. PMID:25289171

  12. 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

  13. Uncommon HLA alleles identified by hemizygous ultra-high Sanger sequencing: haplotype associations and reconsideration of their assignment in the Common and Well-Documented catalogue.

    PubMed

    Voorter, Christina E M; Groeneweg, Mathijs; Groeneveld, Lisette; Tilanus, Marcel G J

    2016-02-01

    Although the number of HLA alleles still increases, many of them have been reported being uncommon. This is partly due to lack of full length gene sequencing, especially for those alleles belonging to an allele ambiguity in which the first discovered allele has been assigned as the most frequent one. As members of the working group on Common and Well Documented (CWD) alleles and since we implemented full length group-specific sequencing as standard method routinely, we have investigated the presence of presumably rare alleles in our collection of HLA typing data. We identified 50 alleles, that were not previously encountered as Common or Well Documented. Sixteen of them should be added to the CWD catalogue, since we encountered them in 5 or more unrelated individuals. Another 11 could be added, based upon our results and the data present in the IMGT database and the rare allele section of the allele frequencies database. Furthermore, tight associations were observed between several different alleles even at the level of synonymous and non-coding sequences. In addition, in several cases the uncommon allele was found to be more frequent than its common counterpart. PMID:26610902

  14. 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

  15. 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

  16. 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

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

    PubMed

    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

  18. 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

  19. [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

  20. 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

  1. Myeloproliferative disease in a cat

    SciTech Connect

    Yates, R.W.; Weller, R.E.; Feldman, B.F.

    1984-10-01

    Myeloproliferative disorders, a complex of cytologic abnormalities arising in the bone marrow, are among domestic animals most frequently recognized in cats but are relatively uncommon. A 4-year-old female Siamese, with splenomegaly and weight loss, was listless, anorectic, pale and dehydrated. A hemogram showed severe, macrocytic normochromic anemia, leukocytosis and reticulocytosis, with abnormally high numbers of nucleated RBC and undifferentiated blast cells. Bone marrow smears contained predominantly undifferentiated blast cells, RBC precursors and myeloblasts. The fluorescent antibody test for FeLV was positive. The cat died 66 days later despite a blood transfusion and chemotherapy. Necropsy confirmed a diagnosis of myeloproliferative disease, with hepatic and splenic invasion. 15 references, 5 figures, 1 table.

  2. 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

  3. 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

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

    PubMed

    Jaiswal, Pooja; Yadav, Yogesh Kumar; Bhasker, Nilam; Kushwaha, Rashmi

    2015-12-01

    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

  5. 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

  6. Prion Diseases

    MedlinePlus

    ... cow" disease) in cattle; Creutzfeldt-Jakob disease in humans; scrapie in sheep; and chronic wasting disease in deer and elk. Much about TSE diseases remains unknown. The diseases are characterized by certain misshapen ...

  7. Rh Disease

    MedlinePlus

    ... Loss > Birth defects & other health conditions > Rh disease Rh disease E-mail to a friend Please fill ... treatment usually can prevent Rh disease. How does Rh disease affect a fetus or newborn? Rh disease ...

  8. Lyme Disease

    MedlinePlus

    ... Skip Content Marketing Share this: Main Content Area Lyme Disease Lyme disease, or borreliosis, is caused by ... designed to increase our understanding of this disease. Lyme Disease A History of Lyme Disease, Symptoms, Diagnosis, ...

  9. 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

  10. The role of glia in retinal vascular disease.

    PubMed

    Coorey, Nathan J; Shen, Weiyong; Chung, Sook H; Zhu, Ling; Gillies, Mark C

    2012-05-01

    Retinal vascular diseases collectively represent a leading cause of blindness. Unsurprisingly, pathological characterisation and treatment of retinal 'vascular' diseases have primarily focused on the aetiology and consequences of vascular dysfunction. Far less research has addressed the contribution of neuronal and glial dysfunction to the disease process of retinal vascular disorders. Ample evidence now suggests that retinal vasculopathy only uncommonly occurs in isolation, usually existing in concert with neuropathy and gliopathy. Retinal glia (Müller cells, astrocytes and microglia) have been reported to exhibit morphological and functional changes in both early and advanced phases of almost every retinal vascular disease. It is anticipated that identifying the causes of glial activation and dysfunction, and their contribution to loss of vision in retinal vascular disease, will lead to a better understanding of retinal vascular diseases, which might ultimately be translated into novel clinical therapies. PMID:22519424

  11. Biliary fascioliasis--an uncommon cause of recurrent biliary colics: report of a case and brief review.

    PubMed

    Al Qurashi, Hesham; Masoodi, Ibrahim; Al Sofiyani, Mohammad; Al Musharaf, Hisham; Shaqhan, Mohammed; All, Gamal Nasr Ahmed Abdel

    2012-01-01

    Biliary parasitosis is one of the important causes of biliary obstruction in endemic areas, however due to migration and travel the disease is known to occur in non endemic zones as well. The spectrum of biliary fascioliasis ranges from recurrent biliary colics to acute cholangitis. The long term complications are gall stones, sclerosing cholangitis and biliary cirrhosis. We describe fascioliasis as a cause of recurrent biliary colics in a young male necessitating multiple hospitalizations over a period of four years. Investigative profile had been non-contributory every time he was hospitalized for his abdominal pain prior to the current presentation. He never had cholangitis due to the worm in the common bile duct. It was only at endoscopic retrograde cholangiopancreatography (ERCP) biliary fascioliasis was discovered to be the cause of his recurrent biliary colics. After removal of the live Fasciola hepatica from the common bile duct he became symptom free and is attending our clinic for last 11 months now. Clinical spectrum of biliary fascioliasis is discussed in this report. PMID:22566787

  12. Biliary fascioliasis – an uncommon cause of recurrent biliary colics: Report of a case and brief review

    PubMed Central

    Al Qurashi, Hesham; Masoodi, Ibrahim; Al Sofiyani, Mohammad; Al Musharaf, Hisham; Shaqhan, Mohammed; All, Gamal Nasr Ahmed Abdel

    2012-01-01

    Biliary parasitosis is one of the important causes of biliary obstruction in endemic areas, however due to migration and travel the disease is known to occur in non endemic zones as well. The spectrum of biliary fascioliasis ranges from recurrent biliary colics to acute cholangitis. The long term complications are gall stones, sclerosing cholangitis and biliary cirrhosis. We describe fascioliasis as a cause of recurrent biliary colics in a young male necessitating multiple hospitalizations over a period of four years. Investigative profile had been non-contributory every time he was hospitalized for his abdominal pain prior to the current presentation. He never had cholangitis due to the worm in the common bile duct. It was only at endoscopic retrograde cholangiopancreatography (ERCP) biliary fascioliasis was discovered to be the cause of his recurrent biliary colics. After removal of the live Fasciola hepatica from the common bile duct he became symptom free and is attending our clinic for last 11 months now. Clinical spectrum of biliary fascioliasis is discussed in this report. PMID:22566787

  13. Gliomatosis cerebri in a patient with Ollier disease.

    PubMed

    Mitchell, Ruth A; Ye, Joshua Mingsheng; Mandelstam, Simone; Lo, Patrick

    2011-11-01

    Gliomatosis cerebri (GC) is an uncommon brain tumour defined as a diffuse neoplastic glial cell infiltration of the brain, involving more than two cerebral lobes and, occasionally, the infratentorial structures or the spinal cord. GC of the oligodendroglial phenotype is extremely rare, especially in the paediatric setting. We describe an unusual case of oligodendroglial GC diagnosed in a 16-year-old boy with Ollier disease. To our knowledge this is the first case of GC reported in a child with Ollier disease. PMID:21868231

  14. Chronic Granulomatous Disease

    PubMed Central

    2015-01-01

    Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder characterized by defective functioning of NADPH oxidase enzyme in the phagocytes. This leads to recurrent infections by catalase positive organisms and later, granuloma formation in multiple organs. This condition usually presents in the age group of 2-5 y and is uncommon in neonates. In this case report, we describe a rare case of CGD in a 40-day-old male child who initially presented with a history of erythematous pustular rash on left forearm and refusal to feeds. He remained unresponsive to regular antibiotics. CT chest and abdomen revealed multiple ill-defined lesions suggestive of granulomas or developing abscesses. Immunodeficiency workup showed negative Nitroblue Tetrazolium test and positive Dihydrorhodamine test (flow cytometry). A diagnosis of CGD was then made and treated accordingly. The aim of this report is to highlight the fact that although it is rare for CGD to present at such an early age, but in a neonate with multiple granulomas or abscesses, it should be considered as a differential and worked up accordingly. Early diagnosis and treatment can significantly improve the prognosis. PMID:26155526

  15. 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

  16. Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry.

    PubMed

    Work, Meghan E; Andrulis, Irene L; John, Esther M; Hopper, John L; Liao, Yuyan; Zhang, Fang Fang; Knight, Julia A; West, Dee W; Milne, Roger L; Giles, Graham G; Longacre, Teri A; O'Malley, Frances; Mulligan, Anna Marie; Southey, Melissa C; Hibshoosh, Hanina; Terry, Mary Beth

    2012-08-01

    Epidemiologic studies of histologic types of breast cancer including mucinous, medullary, and tubular carcinomas have primarily relied on International Classification of Diseases-Oncology (ICD-O) codes assigned by local pathologists to define histology. Using data from the Breast Cancer Family Registry (BCFR), we compared histologic agreement between centralized BCFR pathology review and ICD-O codes available from local tumor registries among 3,260 breast cancer cases. Agreement was low to moderate for less common histologies; for example, only 55 and 26 % of cases classified as mucinous and medullary, respectively, by centralized review were similarly classified using ICD-O coding. We then evaluated risk factors for each histologic subtype by comparing each histologic case group defined by centralized review with a common set of 2,997 population-based controls using polytomous logistic regression. Parity [odds ratio (OR) = 0.4, 95 % confidence interval (95 % CI): 0.2-0.9, for parous vs. nulliparous], age at menarche (OR = 0.5, 95 % CI: 0.3-0.9, for age ≥13 vs. ≤11), and use of oral contraceptives (OCs) (OR = 0.5, 95 % CI: 0.2-0.8, OC use >5 years vs. never) were associated with mucinous carcinoma (N = 92 cases). Body mass index (BMI) (OR = 1.05, 95 % CI: 1.0-1.1, per unit of BMI) and high parity (OR = 2.6, 95 % CI: 1.1-6.0 for ≥3 live births vs. nulliparous) were associated with medullary carcinoma (N = 90 cases). We did not find any associations between breast cancer risk factors and tubular carcinoma (N = 86 cases). Relative risk estimates from analyses using ICD-O classifications of histology, rather than centralized review, resulted in attenuated, and/or more imprecise, associations. These findings suggest risk factor heterogeneity across breast cancer tumor histologies, and demonstrate the value of centralized pathology review for classifying rarer tumor types. PMID:22527103

  17. 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

  18. 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.

  19. Parkinson's Disease

    MedlinePlus

    ... Deep Brain Stimulation Consortium Meeting Summary Parkinson's Disease Cell Biology Meeting Summary Parkinson's Disease Cell Biology Meeting Summary Udall Centers Meeting—Expediting Parkinson’s Disease ...

  20. The promise of futility trials in neurological diseases.

    PubMed

    Koch, Marcus W; Korngut, Lawrence; Patry, David G; Agha-Khani, Yahya; White, Christopher; Sarna, Justyna R; Yeung, Michael; Yong, V Wee; Heng, Daniel Y C; Cutter, Gary; Metz, Luanne

    2015-05-01

    Double-blinded randomized controlled trials (RCTs) have contributed much important evidence to guide treatment decisions in neurology. RCTs are relatively straightforward to conduct, provided that they investigate common diseases, have clearly defined outcome measures, and are of short duration. In neurology, however, many diseases are uncommon, have no consensus outcome measures, and develop over decades. Basic research into neurological diseases continues to identify candidate therapies faster than they can be tested for their clinical utility, leading to a 'translational gap'. Futility trials were initially developed in oncology to efficiently test candidate therapies in phase II trials. As single-arm unblinded studies, futility trials are relatively easy to conduct, and they generally require smaller sample sizes than RCTs. In this article, we discuss futility models, highlighting their advantages as well as challenges to their application in several neurological diseases, including Parkinson disease, stroke and multiple sclerosis. PMID:25776824

  1. Fibrinous tumor of the pleura: an orphan disease lost in translation

    PubMed Central

    Draba, Vasiliki; Machairiotis, Nikolaos; Manika, Katerina; Mikroulis, Dimitrios; Tsakiridis, Kosmas; Courcoutsakis, Nikolaos; Kioumis, Ioannis; Zissimopoulos, Athanasios; Zarogoulidis, Konstantinos

    2012-01-01

    Fibrous dysplasia is an uncommon, benign disorder also known as fibrous mesothelioma. The cause of fibrous dysplasia is unknown. They represent 5% of all pleura neoplasms and in 80% of all cases arise from the visceral pleura. The epidemiology of the disease is reported equal between males and females around the age of 50. Fibrous dysplasia is usually asymptomatic, although several disease symptoms have been reported as hypoglycemia, pain and swelling may accompany the lesion, in advanced disease. Chemotherapy has not presented disease control; nevertheless, radiotherapy is efficient and indicated in residual disease. The disease progress is usually benign; however several disease manifestations have been reported. There are several molecular pathways, which are possible activated during the disease progress and therefore the disease expression changes throughout its course. PMID:23050114

  2. Fibrinous tumor of the pleura: an orphan disease lost in translation.

    PubMed

    Zarogoulidis, Paul; Draba, Vasiliki; Machairiotis, Nikolaos; Manika, Katerina; Mikroulis, Dimitrios; Tsakiridis, Kosmas; Courcoutsakis, Nikolaos; Kioumis, Ioannis; Zissimopoulos, Athanasios; Zarogoulidis, Konstantinos

    2012-10-01

    Fibrous dysplasia is an uncommon, benign disorder also known as fibrous mesothelioma. The cause of fibrous dysplasia is unknown. They represent 5% of all pleura neoplasms and in 80% of all cases arise from the visceral pleura. The epidemiology of the disease is reported equal between males and females around the age of 50. Fibrous dysplasia is usually asymptomatic, although several disease symptoms have been reported as hypoglycemia, pain and swelling may accompany the lesion, in advanced disease. Chemotherapy has not presented disease control; nevertheless, radiotherapy is efficient and indicated in residual disease. The disease progress is usually benign; however several disease manifestations have been reported. There are several molecular pathways, which are possible activated during the disease progress and therefore the disease expression changes throughout its course. PMID:23050114

  3. Meningococcal Disease

    MedlinePlus

    ... Disease Mumps Pertussis (Whooping Cough) Pneumococcal Disease Rubella (German Measles) Shingles (Herpes Zoster) Tetanus (Lockjaw) Professional Resources ... Disease Mumps Pertussis (Whooping Cough) Pneumococcal Disease Rubella (German Measles) Shingles (Herpes Zoster) Tetanus (Lockjaw) You May ...

  4. 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....

  5. 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

  6. 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

  7. Cutaneous manifestations of gastrointestinal disease: part I.

    PubMed

    Shah, Kejal R; Boland, C Richard; Patel, Mahir; Thrash, Breck; Menter, Alan

    2013-02-01

    Cutaneous findings are not uncommonly a concomitant finding in patients afflicted with gastrointestinal (GI) diseases. The dermatologic manifestations may precede clinically evident GI disease. Part I of this 2-part CME review focuses on dermatologic findings as they relate to hereditary and nonhereditary polyposis disorders and paraneoplastic disorders. A number of hereditary GI disorders have an increased risk of colorectal carcinomas. These disorders include familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Each disease has its own cutaneous signature that aids dermatologists in the early diagnosis and detection of hereditary GI malignancy. These disease processes are associated with particular gene mutations that can be used in screening and to guide additional genetic counseling. In addition, there is a group of hamartomatous syndromes, some of which are associated with phosphatase and tensin homolog (PTEN) gene mutations, which present with concurrent skin findings. These include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Cronkhite-Canada syndrome. Finally, paraneoplastic disorders are another subcategory of GI diseases associated with cutaneous manifestations, including malignant acanthosis nigricans, Leser-Trélat sign, tylosis, Plummer-Vinson syndrome, necrolytic migratory erythema, perianal extramammary Paget disease, carcinoid syndrome, paraneoplastic dermatomyositis, and paraneoplastic pemphigus. Each of these disease processes have been shown to be associated with an increased risk of GI malignancy. This underscores the important role of dermatologists in the diagnosis, detection, monitoring, and treatment of these disorders while consulting and interacting with their GI colleagues. PMID:23317980

  8. Diseases of the respiratory tract of chelonians.

    PubMed

    Origgi, F C; Jacobson, E R

    2000-05-01

    Diseases of the respiratory tract commonly occur in captive chelonians, and several diseases also have occurred in wild chelonians. Infectious causes include viruses, bacteria, fungi, and parasites. Herpesviruses have surfaced as important pathogens of the oral cavity and respiratory tract in Hermann's tortoise (Testudo hermanii), spur-thighed tortoise (Testudo graeca), and other tortoises in Europe and the United States. Herpesvirus-associated respiratory diseases also have been reported in the green turtle, Chelonia mydas, in mariculture in the Cayman Islands. Of diseases caused by bacteria, an upper respiratory tract disease caused by Mycoplasma sp has been reported in free-hanging and captive gopher tortoises in the southeastern United States and in desert tortoises in the Mojave Desert of the southwestern United States. Mycotic pulmonary disease is commonly reported in captive chelonians, especially in those maintained at suboptimal temperatures. An intranuclear coccidia has been seen in several species of captive tortoises in the United States, and, in one case, a severe proliferative pneumonia was associated with organisms in the lung. The most common noninfectious cause of respiratory disease in chelonians results from trauma to the carapace. Although pulmonary fibromas commonly occur in green turtles with fibropapillomatosis, for the most part, tumors of the respiratory tract are uncommon in chelonians. PMID:11228895

  9. Peri-Implant Diseases

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  10. Gum Disease and Men

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  11. Gum Disease in Children

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  12. Gum Disease Symptoms

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  13. Gum Disease and Women

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. Sea Anemone Peptide with Uncommon β-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, π-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 μm) and partially (48 ± 2%) inhibited the amplitude of the sustained component (IC50 1.44 ± 0.19 μm). 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 β-turns and twisted β-hairpin without interstrand disulfide bonds. This is a novel peptide spatial structure that we propose to name boundless β-hairpin. PMID:23801332

  20. 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

  1. 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

  2. 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

  3. Atypical diagnosis diagnosis by endoscopic capsule: Whipple´s disease.

    PubMed

    Martínez Sánchez, Alba; Sánchez Ceballos, Francisco L; Fernández Díez, Servando; Suárez Solís, María Luisa; Asteinza Daganzo, Matilde; Baki, Walid; Esteban, José Miguel; Rey Díaz-Rubio, Enrique

    2016-03-01

    Whipple´s disease is a chronic systemic infection produced by the actinomycete Tropheryma whipplei. Endoscopic tests are key in the diagnosis as they allow biopsy and histopathological examination for definitive diagnosis of this entity. We present a case of Whipple´s disease where capsule endoscopy, uncommon for the diagnosis of this condition, was essential for it and its performance before and after antibiotic treatment allows to describe the macroscopic evolution of the findings in the small bowel. This case illustrates the utility of capsule endoscopy to allow complete examination of the small bowel disease in which up to 30% of patients may present with normal endoscopy. PMID:26182245

  4. 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

  5. An uncommon cause of syncope.

    PubMed

    Campagna, Davide; Amaradio, Maria Domenica; Battaglia, Eliana; Demma, Shirin; Russo, Cristina; Polosa, Riccardo

    2016-04-01

    The authors present a case of a man with recurrent syncopal episodes. The patient had been hospitalized twice before reaching a correct diagnosis. The syncope was originally ascribed to a sick sinus syndrome, which led to pacemaker implantation. Nonetheless, the patient relapsed with no evidence of pacemaker dysfunction, and was readmitted to the hospital where the likely cause for his symptoms was identified: an adenocarcinoma of the lung infiltrating the vagus and recurrent laryngeal nerves. No further syncopal episodes occurred after thoracic surgery. This syncope led to an early diagnosis of lung cancer leading to appropriate and life extending treatment. PMID:26407606

  6. Uncommon sense in orbit mechanics

    NASA Astrophysics Data System (ADS)

    Uphoff, Chauncey

    This paper is a presentation of several interesting, and sometimes valuable non-sequiturs derived from many aspects of orbital dynamics. The unifying feature of these vignettes is that they all demonstrate phenomena that are the opposite of what our `common sense' tells us. Each phenomenon is related to some application or problem solution close to or directly within the author's experience. In some of these applications, the common part of our sense comes from the fact that we grew up on the surface of a planet, deep in its gravity well. In other examples, our mathematical intuition is wrong because our mathematical model is incomplete or because we are accustomed to certain kinds of solutions like the ones we were taught in school. The theme of the paper is that many apparently unsolvable problems might be resolved by the process of guessing the answer and trying to work backwards to the problem. The ability to guess the right answer in the first place is a part of modern magic. A new method of ballistic transfer from Earth to inner solar system targets is presented as an example of the combination of two concepts that seem to work in reverse.

  7. Uncommon Infant and Newborn Problems

    MedlinePlus

    It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the ... treat it. If you have concerns about your baby's health, call your health care provider right away. ...

  8. 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

  9. 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

  10. 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…

  11. 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

  12. Myxomatous mitral valve disease in dogs: Does size matter?

    PubMed Central

    Parker, Heidi G.; Kilroy-Glynn, Paul

    2012-01-01

    Myxomatous mitral valve disease (MMVD) is the most commonly diagnosed cardiovascular disease in the dog accounting for more than 70% of all cardiovascular disease in dogs. As are most canine diseases with genetic underpinnings, risk of MMVD is greatly increased in a subset of breeds. What is uncommon is that the vast majority of the breeds at elevated risk for MMVD are small or toy breeds with average adult weights under 9 kg. These breeds appear to have little in common other than their diminutive size. In the following review we propose a number of mechanisms by which relatively unrelated small breeds may have developed a predisposition for chronic valvular disorders. Although factors such as age are key in the expression of MMVD, taking a comprehensive look at the commonalities, as well as the differences, between the susceptible breeds may assist in finding the causal variants responsible for MMVD and translating them to improved treatments for both dogs and humans. PMID:22356836

  13. 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 ...

  14. Stargardt Disease

    MedlinePlus

    ... Congenital Amaurosis Macular Degeneration Retinitis Pigmentosa Stargardt Disease Usher Syndrome Other Retinal Diseases Glossary News & Research News & ... for retinal degenerative diseases like retinitis pigmentosa (RP), Usher syndrome and macular degeneration . Back to top What ...

  15. Crohn's Disease

    MedlinePlus

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  16. Krabbe disease

    MedlinePlus

    ... for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but ... counseling is recommended for people with a family history of Krabbe disease who are considering having children. ...

  17. Hookworm Disease

    MedlinePlus

    ... Parasitic Roundworm Diseases Laboratory of Parasitic Diseases National Library of Medicine, MedlinePlus World Health Organization ​​ Hookworm Disease Skip Content Marketing Share this: JavaScript is disabled in your browser. ...

  18. Lyme Disease

    MedlinePlus

    ... Lyme Disease Teen information A A A ... Lyme disease is the result of infection with the bacteria Borrelia burgdorferi. The disease is transmitted by infected ticks that also feed on mice and deer. The tick can be found attached ...

  19. 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 ...

  20. 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 ( ...

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. Sandhoff Disease

    MedlinePlus

    ... Sandhoff diseases for use in humans. NIH Patient Recruitment for Sandhoff Disease Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 National Tay-Sachs and Allied Diseases ...

  5. 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

  6. 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, Matías; Lizasoain, Andrés; García, Mariana; Berois, Mabel; Cristina, Juan; Leite, José Paulo Gagliardi; Gómez, Mariela Martínez; 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

  7. 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

  8. 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 Children’s 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-γ, 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

  9. 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

  10. 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

  11. [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

  12. 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 ...

  13. 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 ...

  14. 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

  15. 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

  16. Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.

    PubMed

    Qaddoumi, Ibrahim; Orisme, Wilda; Wen, Ji; Santiago, Teresa; Gupta, Kirti; Dalton, James D; Tang, Bo; Haupfear, Kelly; Punchihewa, Chandanamali; Easton, John; Mulder, Heather; Boggs, Kristy; Shao, Ying; Rusch, Michael; Becksfort, Jared; Gupta, Pankaj; Wang, Shuoguo; Lee, Ryan P; Brat, Daniel; Peter Collins, V; Dahiya, Sonika; George, David; Konomos, William; Kurian, Kathreena M; McFadden, Kathryn; Serafini, Luciano Neder; Nickols, Hilary; Perry, Arie; Shurtleff, Sheila; Gajjar, Amar; Boop, Fredrick A; Klimo, Paul D; Mardis, Elaine R; Wilson, Richard K; Baker, Suzanne J; Zhang, Jinghui; Wu, Gang; Downing, James R; Tatevossian, Ruth G; Ellison, David W

    2016-06-01

    Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astrocytoma and 'adult-type' diffuse gliomas, are largely established, those of uncommon LGNTs remain to be defined. In this study, we have used massively parallel sequencing and various targeted molecular genetic approaches to study alterations in 91 LGNTs, mostly from children but including young adult patients. These tumors comprise dysembryoplastic neuroepithelial tumors (DNETs; n = 22), diffuse oligodendroglial tumors (d-OTs; n = 20), diffuse astrocytomas (DAs; n = 17), angiocentric gliomas (n = 15), and gangliogliomas (n = 17). Most LGNTs (84 %) analyzed by whole-genome sequencing (WGS) were characterized by a single driver genetic alteration. Alterations of FGFR1 occurred frequently in LGNTs composed of oligodendrocyte-like cells, being present in 82 % of DNETs and 40 % of d-OTs. In contrast, a MYB-QKI fusion characterized almost all angiocentric gliomas (87 %), and MYB fusion genes were the most common genetic alteration in DAs (41 %). A BRAF:p.V600E mutation was present in 35 % of gangliogliomas and 18 % of DAs. Pathogenic alterations in FGFR1/2/3, BRAF, or MYB/MYBL1 occurred in 78 % of the series. Adult-type d-OTs with an IDH1/2 mutation occurred in four adolescents, the youngest aged 15 years at biopsy. Despite a detailed analysis, novel genetic alterations were limited to two fusion genes, EWSR1-PATZ1 and SLMAP-NTRK2, both in gangliogliomas. Alterations in BRAF, FGFR1, or MYB account for most pathogenic alterations in LGNTs, including pilocytic astrocytomas, and alignment of these genetic alterations and cytologic features across LGNTs has diagnostic implications. Additionally, therapeutic options based upon targeting the effects of these alterations are already in clinical trials. PMID:26810070

  17. Haemolytic disease of the newborn due to anti-c

    PubMed Central

    Abourazzak, Sana; Hajjaj, Safae; Hakima, Chekabab; Bouharrou, Abdelhak; Hida, Moustapha

    2009-01-01

    Anti-D isoimmunisation remains the most common cause of erythroblastosis fetalis. Whereas most clinically significant blood group sensitisations noted during pregnancy are still secondary to anti-D incompatibility, sensitisation to antigens other than D in the CDE system is not uncommon and can cause severe disease. The widespread use of Rh-D immune globulin has led to a relative increase in the importance of non-Rh-D isoimmunisation as a cause of haemolytic disease of the newborn. We report the case of a baby with severe hyperbilirubinaemia and persistent anaemia due to anti-c isoimmunisation with a high-titre maternal c antibody. The baby required emergency transfusion and intensive phototherapy. The medical literature relating to maternal c isoimmunisation and neonatal outcome is also reviewed. Because of its ability to cause clinically significant haemolytic disease of the newborn, practitioners must manage anti-c isoimmunisation in a manner similar to that for anti-D. PMID:21686523

  18. Kimura disease

    PubMed Central

    AlGhamdi, Fares E.; Al-Khatib, Talal A.; Marzouki, Hani Z.; AlGarni, Mohammed A

    2016-01-01

    Kimura disease is a chronic inflammatory disease that mainly manifests as a lump in the cervical region. Although the underlying pathophysiology is not clear yet, the diagnosis can be established based on specific histopathological characteristics. The first case of this disease was described in China, as well as the majority of subsequent cases that were also described in the Far East countries made Kimura disease traditionally a disease of adult patients of Asian descent. This report describes the occurrence of Kimura disease in pediatric non-Asian patient with a similar clinicopathologic presentation. PMID:26905356

  19. Research Areas: Liver Disease

    MedlinePlus

    ... weight control and nutrition, urologic diseases, endocrine and metabolic diseases, and blood diseases La Información de la Salud ... Program Digestive Disease and Nutrition Endocrine Disease and Metabolic Disease Hematologic Disease Kidney Disease Liver Disease Obesity Urologic ...

  20. Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist

    PubMed Central

    Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Rubén 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 Sjögren'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 2006–September 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

  1. FDG PET images in a patient with Erdheim-Chester Disease

    PubMed Central

    Sioka, Chrissa; Estrada-Veras, Juvianee; Maric, Irinia; Gahl, William A.; Chen, Clara C.

    2013-01-01

    Erdheim-Chester disease (ECD) is an uncommon non-Langerhans-cell histiocytosis, due to excessive production of histiocytes deposited in various organs and tissues in the human body. FDG PET was performed in a 68-year-old man with documented active ECD to evaluate the extent of the disease. The patient was previously treated with high dose subcutaneous Interferon alpha 2b, 1,000,000 units 3 times a week, but treatment was interrupted approximately 5 weeks prior to evaluation at NIH due to side effects of the medication. FDG PET/CT showed lesions were imaged in brain, heart, mediastinum and abdomen. PMID:23640213

  2. Serous microcystic adenoma of the pancreas associated with malrotation and Hirschsprung's disease in an infant.

    PubMed

    Larson, Kelsey; Seifarth, Federico G; Plesec, Thomas; Magnuson, David K

    2015-04-01

    Serous microcystic adenoma of the pancreas is an uncommon tumor in adults, and reported in pediatric patients only a handful of times. The authors present a case of a 6 month patient with incidental finding of a large cystic mass on the tail of the pancreas during an operation for Hirschsprung's disease. Final pathology was consistent with serous microcystic adenoma. This is the second case report describing this lesion in an infant, and the first time it has been associated with Hirschsprung's disease. PMID:25623596

  3. 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

  4. HIV-associated Multicentric Castleman Disease

    PubMed Central

    Reddy, Deepa; Mitsuyasu, Ronald

    2015-01-01

    Purpose of review HIV-associated multicentric Castleman disease (HIV MCD) is a rare lymphoproliferative disorder, the incidence of which appears to be increasing in the highly active antiretroviral therapy (HAART) era. Current knowledge of the disease is limited and this review will discuss what is known about the pathophysiology, diagnosis, management, and prognosis of HIV MCD. Recent findings HIV MCD has been shown to be associated with infection with human herpervirus-8 (HHV8). Vascular endothelial growth factor and the cytokine interleukin-6 (IL-6) are also thought to play a role in the pathogenesis of MCD. Currently, rituximab is often used alone or in combination with chemotherapy for treatment of MCD. Novel monoclonal antibodies targeting IL-6 and the IL-6 receptor are also being studied for the management of this disease. Summary Because HIV MCD is an uncommon diagnosis, comprehensive clinical studies have not been done, and understanding of the disease is incomplete. Further studies are needed to make definitive conclusions regarding optimal treatment of HIV MCD. PMID:21760504

  5. Nephrology Update: Glomerular Disease in Children.

    PubMed

    Vogt, Beth

    2016-05-01

    Although kidney disease is much less common in children than in adults, clinicians must remain alert for the renal conditions that occur in this population because prompt diagnosis and management are essential. Acute postinfectious glomerulonephritis occurs as an uncommon sequela of streptococcal and other infections. Management is focused on providing supportive measures, including management of fluid-electrolyte imbalance and hypertension, until the patient recovers. Immunoglobulin (Ig) A nephropathy is a primary glomerulonephritis related to abnormal IgA glycosylation. The most common renal issue in children involves recurrent episodes of painless macroscopic hematuria during times of acute infection. Renal involvement occurs in the majority of children with Henoch-Schönlein purpura (HSP), with most experiencing asymptomatic hematuria and low level proteinuria. More severe forms of HSP nephritis, including rapidly progressive glomerulonephritis, may progress to end-stage kidney disease. Nephrotic syndrome commonly is related to steroid-responsive minimal change disease, and follows a course of relapses and remissions over time. However, a minority of children have steroid-resistant disease with potential for poor renal outcome. PMID:27163763

  6. 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

  7. Celiac Disease

    MedlinePlus

    ... problems in your small intestine when you eat gluten, a protein found in wheat, rye, and barley. Gluten is poison to people who have celiac disease. What does gluten do to people who have celiac disease? In ...

  8. 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 ...

  9. Tickborne Diseases

    MedlinePlus

    ... on a blade of grass. Credit: CDC. Rocky Mountain spotted fever, a bacterial disease transmitted by the ... Ehrlichiosis and Anaplasmosis Lyme Disease Relapsing Fever Rocky Mountain Spotted Fever Tularemia back to top ​​​​ Last Updated ...

  10. Menkes Disease

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Menkes Disease: Overview Skip sharing on social media links Share this: Page Content Menkes disease is a genetic disorder that affects how copper ...

  11. 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 ...

  12. Gaucher Disease

    MedlinePlus

    ... one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, ... research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, ...

  13. Alexander Disease

    MedlinePlus

    ... no exact animal model for the disease; however, mice have been engineered to produce the same mutant ... GFAP found in individuals with Alexander disease. These mice form Rosenthal fibers and have a predisposition for ...

  14. 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 ...

  15. Kawasaki Disease

    MedlinePlus

    ... including the arteries, veins, and capillaries. Sometimes Kawasaki disease affects the coronary arteries, which carry oxygen-rich blood ... can't pass it to another child. Kawasaki disease affects children of all races and ages and both ...

  16. 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 ...

  17. Menkes Disease

    MedlinePlus

    ... defective gene named ATPTA 1 that regulates the metabolism of copper in the body. The disease primarily ... Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless ...

  18. Lyme disease

    MedlinePlus

    ... R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 243. Wright WF. Diagnosis and management of Lyme disease. Am Fam Physician . 2012;85: ...

  19. Hashimoto's Disease

    MedlinePlus

    ... disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid ... Hashimoto’s disease is the most common cause of hypothyroidism in the United States. 1 Read more in ...

  20. Graves' Disease

    MedlinePlus

    ... our online catalog. ​ Additional Links Hashimoto's Disease Hyperthyroidism Hypothyroidism Pregnancy & Thyroid Disease Thyroid Tests Find a Specialist ... everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make ...

  1. Addison's Disease

    MedlinePlus

    ... example, a problem with your pituitary gland can cause secondary Addison’s disease. Or, you may develop Addison’s disease if you suddenly stop taking a corticosteroid medicine (such as prednisone). Corticosteroids ...

  2. Fifth disease

    MedlinePlus

    Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and ...

  3. Fifth Disease

    MedlinePlus

    ... Search The CDC Cancel Submit Search The CDC Parvovirus B19 and Fifth Disease Note: Javascript is disabled ... message, please visit this page: About CDC.gov . Parvovirus Home About Parvovirus B19 Fifth Disease Pregnancy and ...

  4. Coeliac disease.

    PubMed

    Freeman, Hugh; Lemoyne, Michel; Pare, Pierre

    2002-02-01

    Increased awareness of non-classical presentations and more reliable screening tests have led to higher detection rates for coeliac disease in elderly adults. Clinical presentations are influenced largely by the long-standing course of the subclinical disease before diagnosis. In the majority of elderly patients, weight loss, diarrhoea and iron deficiency anaemia are present. With a delay in diagnosis, there are increased risks of associated autoimmune diseases, of neoplasms (mostly small bowel lymphoma) and of metabolic bone diseases. Thyroid disease is the most common autoimmune disease. Lymphoma may be the initial presentation or may complicate the clinical course of well established coeliac disease. Osteopenia is very common at presentation, can be clinically severe and require specific therapy in addition to the gluten-free diet. The high risk of complications in elderly patients with coeliac disease warrants a systematic approach in their investigation and management. PMID:11977927

  5. Kawasaki disease

    MedlinePlus

    ... pubmed/23283289 . Mason JC. Rheumatic diseases of the cardiovascular system. In: Mann DL, Zipes DP, Libby P, Bonow RO, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: Elsevier Saunders; 2014: ...

  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. Bone Diseases

    MedlinePlus

    ... avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds ... break Osteogenesis imperfecta makes your bones brittle Paget's disease of bone makes them weak Bones can also ...

  8. Wilson Disease

    MedlinePlus

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  9. 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 ...

  10. 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 ...

  11. 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, ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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 ...

  17. 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 ...

  18. 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 ...

  19. Krabbe Disease

    MedlinePlus

    ... cell degeneration seen in Krabbe disease. NIH Patient Recruitment for Krabbe Disease Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 United Leukodystrophy Foundation 224 North 2nd ...

  20. Kennedy's Disease

    MedlinePlus

    ... to prevent, treat, and cure them. NIH Patient Recruitment for Kennedy's Disease Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Kennedy's Disease Association P.O. Box ...

  1. Reportable diseases

    MedlinePlus

    ... Botulism Brucellosis Chancroid Chickenpox Chlamydia trachomatis Cholera Coccidioidomycosis Cryptosporidiosis Cyclosporiasis Diphtheria Giardiasis Gonorrhea Haemophilus influenza, invasive disease ...

  2. Sever's Disease

    MedlinePlus

    ... any problems linked with Sever's disease? No long-term problems have been linked with Sever's disease. However, call your doctor if your child's heel pain does not get better with treatment, gets worse or if you notice changes in skin color or swelling. Prevention Can Sever's disease be prevented? ...

  3. 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…

  4. Kawasaki disease

    PubMed Central

    Kawasaki, Tomisaku

    2006-01-01

    Short history of Kawasaki disease, clinical features (principal symptoms and other significant symptoms or findings), diagnosis, cardiovascular involvement, epidemiology. Pathological features (lesion of vessels and lesion of organs exclusive of vessels), comparison between infantile periarteritis nodosa (IPN)/Kawasaki disease and classic periarteritis nodosa (CPN), etiology, treatment and management of Kawasaki disease are described. PMID:25792773

  5. 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…

  6. 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

  7. Behcet's Disease

    MedlinePlus

    ... with Behçet’s disease keep their joints strong and flexible. What Is the Prognosis for a Person With Behçet’s Disease? Most people with Behçet’s disease can lead productive lives and control symptoms with proper medicine, rest, and exercise. Doctors ...

  8. 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...

  9. 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...

  10. Prion Diseases

    PubMed Central

    Geschwind, Michael D.

    2016-01-01

    Purpose of Review This article presents an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. Recent Findings Prion diseases, a group of disorders caused by abnormally shaped proteins called prions, occur in sporadic (Jakob-Creutzfeldt disease), genetic (genetic Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia), and acquired (kuru, variant Jakob-Creutzfeldt disease, and iatrogenic Jakob-Creutzfeldt disease) forms. This article presents updated information on the clinical features and diagnostic methods for human prion diseases. New antemortem potential diagnostic tests based on amplifying prions in order to detect them are showing very high specificity. Understanding of the diversity of possible presentations of human prion diseases continues to evolve, with some genetic forms progressing slowly over decades, beginning with dysautonomia and neuropathy and progressing to a frontal-executive dementia with pathology of combined prionopathy and tauopathy. Unfortunately, to date, all human prion disease clinical trials have failed to show survival benefit. A very rare polymorphism in the prion protein gene recently has been identified that appears to protect against prion disease; this finding, in addition to providing greater understanding of the prionlike mechanisms of neurodegenerative disorders, might lead to potential treatments. Summary Sporadic Jakob-Creutzfeldt disease is the most common form of human prion disease. Genetic prion diseases, resulting from mutations in the prion-related protein gene (PRNP), are classified based on the mutation, clinical phenotype, and neuropathologic features and can be difficult to diagnose because of their varied presentations. Perhaps most relevant to this Continuum issue on neuroinfectious diseases, acquired prion diseases are caused by accidental transmission to humans, but fortunately, they are the least common form and are becoming rarer as awareness of transmission risk has led to implementation of measures to prevent such occurrences. PMID:26633779

  11. Prion diseases.

    PubMed

    McKintosh, Edward; Tabrizi, Sarah J; Collinge, John

    2003-04-01

    Prion diseases are incurable neurodegenerative conditions affecting both animals and humans. They may be sporadic, infectious, or inherited in origin. Human prion diseases include Creutzfeldt-Jakob desease (CJD), Gerstmann-Straussler-Scheinker disease, kuru, and fatal familial insomnia. The appearance of variant CJD, and the demonstration that is caused by strains indistinguishable from bovine spongiform encephalopathy (BSE) in cattle, has led to the threat of a major epidemic of human prion disease in the UK and other countries where widespread dietary exposure to bovine prions has occurred. This article reviews the history and epidemiology of these diseases, and then focuses on important areas of current research in human prion disorders. PMID:12707849

  12. [Pick's disease].

    PubMed

    Yamamoto, Kazuki; Ogihara, Tomomi

    2016-03-01

    Pick's disease is a type of frontotemporal lobar degeneration(FTLD) with circumscribed atrophy in the frontotemporal lobe. The terminology for Pick's disease has evolved over time. Pick's disease was a term formerly used to define a disorder with symptoms caused by frontal and temporal lobe dysfunction. Therefore, the diagnosis was previously based on clinical features and the distribution of brain atrophy. Pick's disease is currently defined by the presence of tau-positive Pick bodies, and thus can be diagnosed only pathologically. The clinical phenotypes of Pick's disease include behavioral variant FTD (bvFTD), progressive nonfluent aphasia (PNFA) and semantic dementia (SD). PMID:27025090

  13. 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

  14. [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

  15. 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

  16. 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

  17. [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

  18. 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.

  19. [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

  20. 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

  1. 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.

  2. 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

  3. Kawasaki Disease

    MedlinePlus

    ... Head Neck & Nervous System Heart Infections Learning Disabilities Obesity Orthopedic Prevention Sexually Transmitted Skin Tobacco Treatments Injuries & Emergencies Vaccine Preventable Diseases Healthy Children > Health ...

  4. Leishmaniasis Disease

    MedlinePlus

    ... Monday-Friday Closed Holidays Contact CDC-INFO Leishmaniasis General Information Leishmaniasis FAQs Epidemiology & Risk Factors Biology Disease Diagnosis Treatment Prevention & Control Resources for Health ...

  5. Wilson Disease

    MedlinePlus

    ... statement, and the Director's Update newsletter Offices & Divisions Organizational structure and descriptions of ... is Wilson disease treated? Changes in Eating, Diet, and Nutrition How can Wilson ...

  6. Whipworm Disease

    MedlinePlus

    ... About NIAID News & Events Volunteer NIAID > Health & Research Topics > Whipworm Disease Skip Website Tools Website Tools Print this page Get email updates Order publications Volunteer for Clinical ...

  7. 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

  8. Hypertrophic osteoarthropathy and congenital heart disease: this is not casual

    PubMed Central

    Ferreira, Ester; Camões, Isabel

    2013-01-01

    This case presents a patient with congenital cyanotic heart disease in whom secondary hypertrophic osteoarthropathy was diagnosed. The symptoms of severe bilateral leg pain started 2 months before hospital admission. The presence of clubbing, painful swelling of the lower limbs and his comorbid condition roused the suspicion of hypertrophic osteoarthropathy and a skeleton radiograph of the lower limbs was performed. The last showed changes consistent with periosteal new bone formation, so a non-steroid anti-inflammatory drug was started with complete resolution of the debilitating pain. Hypertrophic osteoarthropathy is an uncommon disease that may be genetically acquired or secondary to other conditions affecting lungs, heart, liver or bowel. Considering it elusive pathogenesis, treatment options are scarce and symptomatic relief is still the main objective. PMID:24049086

  9. Listeria meningitis complicating infliximab treatment for Crohn's disease

    PubMed Central

    Williams, Geoffrey; Khan, Asad A; Schweiger, Franzjosef

    2005-01-01

    Infliximab, a monoclonal antibody directed against tumour necrosis factor-alpha, is an effective therapy for Crohn's disease. Though uncommon, serious opportunistic infections, including reactivation of tuberculosis, have occurred in patients after infliximab administration. Meningitis caused by Listeria monocytogenes developed in a 37-year-old man six days after the second infusion of infliximab. The patient, who also was treated with azathioprine and corticosteroids, had an uneventful recovery after a course of antibiotics. Several other recent reports have implicated infliximab therapy in the development of severe Listeria infections, particularly meningitis and sepsis. With the increasing use of tumour necrosis factor-alpha-neutralizing agents, clinicians should be aware of the risk of opportunistic infections caused by L monocytogenes in patients with Crohn's disease following infliximab treatment. PMID:18159561

  10. [Hibernoma and cervical rib: two rare diseases, the same manifestation].

    PubMed

    Antunes, J; Santos, S; Andrade, N; Simões, F; Salgado, C

    2013-07-01

    The hibernoma is a rare benign tumor of soft tissue, derived from remnants of fetal brown adipose tissue. A cervical rib is a supernumerary or accessory rib derived from the 7th cervical vertebra. CLINCAL CASE: 2-year-old girl, previously healthy, referenced to Pediatrics consultation, for left supraclavicular mass. No history of infectious diseases or systemic symptoms. At exam presented mass in supraclavicular left region, 1.5 to 2 cm in diameter, hard, mobile, non-adherent to the deep planes. Laboratory tests exclude an infectious or lymphoproliferative disease. In cervical radiograph we observed bilateral cervical ribs. Cervical ultrasound revealed calcified nodule 0.8 cm, compatible with calcified adenopathy. Biopsy was performed and histology revealed a hibernoma, which was completely removed surgically. This case illustrates the association of two diagnoses, uncommon in children. These were made during the investigation of lymphadenopathies, a frequent reason for pediatrics consultation. PMID:24482907

  11. 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

  12. Averting the legacy of kidney disease – focus on childhood

    PubMed Central

    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 amongst 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 to help to 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, whilst only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that 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, policymakers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  13. 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

  14. 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

  15. 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

  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:26997373

  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:26926120

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

    PubMed Central

    Ingelfinger, J.R.; Kalantar-Zadeh, K.; Schaefer, F.

    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, in that the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease as a consequence 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, although only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that the World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:27096201

  19. Periodontal Disease and Systemic Health

    MedlinePlus

    ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ... Disease and Heart Disease Gum Disease and Other Systemic Diseases Gum Disease and Women Gum Disease and Men ...

  20. 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...

  1. Diverticular Disease

    MedlinePlus

    ... drink plenty of fluids and exercise regularly. Other Organizations American Society of Colon and Rectal Surgeons National Institute of Diabetes and Digestive and Kidney Diseases Questions to Ask Your Doctor What lifestyle changes can I make to prevent diverticular disease from ...

  2. [Caffey's disease].

    PubMed

    Femiano, F; Cozzolino, S; Malzone, A

    1990-01-01

    Caffey's disease or infantile cortical hyperostosis a rare condition affecting infants in the first five months of life. The disease begins usually as an acute febrile illness accompanied by painful swellings over one or more bones, with all the signs of acute inflammation. PMID:2097976

  3. 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 ...

  4. Lyme Disease

    MedlinePlus

    ... have it. Antibiotics can cure most cases of Lyme disease. The sooner treatment begins, the quicker and more complete the recovery. After treatment, some patients may still have muscle or joint aches and ... post-Lyme disease syndrome (PLDS). Long-term antibiotics have not been ...

  5. Kikuchi's disease.

    PubMed

    Chaitanya, Babu N; Sindura, Cs

    2010-01-01

    Kikuchi disease is an idiopathic, generally self-limiting cause for lymphadenitis that can be clinically and histologically mistaken for lymphoma or systemic lupus erythematosus. Differentiating this disease from common lymphatic disorder is extremely important from the pathologist's point of view, which is highlighted in the article. PMID:21180451

  6. Lyme Disease

    MedlinePlus

    ... simply be displayed as a subtle area of pink or red skin rather than the classic bull's-eye rash. Overview Lyme disease is the result of infection with the bacteria Borrelia burgdorferi. The disease is transmitted by infected ticks that also feed on mice and deer. The tick can be found attached ...

  7. Blount Disease

    MedlinePlus

    ... disease also can lead to arthritis of the knee joint and, in very severe cases, trouble walking. In ... Personal Plan Will Lifting Weights Harm My Bones? Knee Injuries Staying at a Healthy Weight Osgood-Schlatter Disease Bones, Muscles, and Joints Contact Us Print Resources Send to a friend ...

  8. 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...

  9. Alzheimer's Disease

    MedlinePlus

    ... cognitive decline and Alzheimer’s disease. Clinical trials are testing some of these possibilities. Diagnosis of Alzheimer’s Disease Doctors use several methods and tools to help determine whether a person who is having memory problems has “possible Alzheimer’s dementia” (dementia may be ...

  10. 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 ...

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  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. 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

  19. 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

  20. 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

  1. Hirayama disease.

    PubMed

    Foster, Emma; Tsang, Benjamin K-T; Kam, Anthony; Storey, Elsdon; Day, Bruce; Hill, Aron

    2015-06-01

    This article discusses three patients with likely Hirayama disease. They have no other significant past medical history and no personal or family history of other neurological disorders. Hirayama disease is a form of cervical myelopathy attributed to forward displacement of the posterior cervical dural sac on neck flexion with resultant cord compression and/or venous congestion. It is characterized by a pure motor focal amyotrophy in the distribution of C7, C8 and T1 spinal segmental-innervated muscles and differs from other motor neuron diseases by virtue of its ultimately non-progressive course. PMID:25766368

  2. [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

  3. Dercum's disease.

    PubMed

    Wortham, Noel C; Tomlinson, Ian Pm

    2005-01-01

    Dercum's disease (adiposis dolorosa, lipomatosis dolorosa morbus Dercum), is a rare disorder resulting in painful fatty deposits around the upper legs, trunk, and upper arms. The portrait painted of Dercum's disease is very complicated, with many other disorders seen associated with the disease. There are no clear pathological mechanisms known, although it is suspected that there is either a metabolic or autoimmune component involved. Here, the authors review the literature to date, including some information from their own studies. In particular, the authors will look at the different strands of evidence pointing to the pathological mechanism of the disorder. PMID:15891252

  4. Male fertility potential alteration in rheumatic diseases: a systematic review

    PubMed Central

    Tiseo, Bruno Camargo; Cocuzza, Marcello; Bonfá, Eloisa; Srougi, Miguel; Clovis, A

    2016-01-01

    ABSTRACT Background Improved targeted therapies for rheumatic diseases were developed recently resulting in a better prognosis for affected patients. Nowadays, patients are living longer and with improved quality of life, including fertility potential. These patients are affected by impaired reproductive function and the causes are often multifactorial related to particularities of each disease. This review highlights how rheumatic diseases and their management affect testicular function and male fertility. Materials and Methods A systematic review of literature of all published data after 1970 was conducted. Data was collected about fertility abnormalities in male patients with systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, Behçet disease and gout. Two independent researchers carried out the search in online databases. Results A total of 19 articles were included addressing the following diseases: 7 systemic lupus erythematosus, 6 Behçet disease, 4 ankylosing spondylitis, 2 rheumatoid arthritis, 2 dermatomyositis and one gout. Systemic lupus erythematosus clearly affects gonadal function impairing spermatogenesis mainly due to antisperm antibodies and cyclophosphamide therapy. Behçet disease, gout and ankylosing spondylitis patients, including those under anti-TNF therapy in the latter disease, do not seem to have reduced fertility whereas in dermatomyositis, the fertility potential is hampered by disease activity and by alkylating agents. Data regarding rheumatoid arthritis is scarce, gonadal dysfunction observed as consequence of disease activity and antisperm antibodies. Conclusions Reduced fertility potential is not uncommon. Its frequency and severity vary among the different rheumatic diseases. Permanent infertility is rare and often associated with alkylating agent therapy. PMID:27120778

  5. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

    SciTech Connect

    Nishimuri, Gen; Fukushima, Yoshimitsu; Ohashi, Hirofumi; Ikegawa, Shiro

    1995-11-20

    The recent discovery of mutations in the FGFR-3 (fibroblast growth factor receptor-3) gene (FGFR3) as the cause of achondroplasia has provided new insight into understanding genetic diseases. It was surprising from the viewpoint of molecular genetics that most patients with achondroplasia showed the same mutation at nucleotide 1138, leading to a single amino acid substitution from glycine to arginine at codon 380 (Gly380Arg). All 39 patients examined by two groups had the Gly380Arg; 38 patients and the other demonstrated a G to A and a G to C transition at nucleotide 1138, respectively. Subsequently another group disclosed a G to A transition at the same nucleotide 1138 in 21/23 patients of diverse ethnic origin, although mutations were not identified in two patients. To date, a total of 193 patients with the mutation of the G380Arg have been reported; a single patient with another mutation resulting in a substitution from glycine to cysteine at codon 375 (Gly375Cys) has been described. The presence of this common mutation is consistent with the clinical fact that achondroplastic individuals show less phenotypic variability than is unusual for autosomal dominant diseases. We encountered a Japanese boy with the Gly375Cys. His mother with achondroplasia has the same mutation. The molecular investigation of these patients was reported elsewhere. Here we report the clinical and radiological findings in this boy who demonstrated some atypical manifestations from those of typical achondroplasia. 8 refs., 1 fig.

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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 ...

  12. Autoimmune Diseases

    MedlinePlus

    ... suppress immune system activity. These drugs can help control the disease process and preserve organ function. For instance, these drugs are used to control inflammation in affected kidneys in people with lupus ...

  13. Graves disease

    MedlinePlus

    ... iodine uptake and scan This disease may also affect the following test results: Orbit CT scan or ultrasound Thyroid stimulating immunoglobulin ( TSI ) Thyroid peroxidase (TPO) antibody Anti-TSH receptor antibody

  14. [Whipple's disease].

    PubMed

    Seguy, David

    2007-01-01

    For many years, Whipple's disease was considered a rare, mainly intestinal disease causing malabsorption. At present, however, it appears to be multivisceral mainly occuring in subjects with specific and subtle cell-mediated immunity defects. Until recently, diagnosis and follow-up of treatment efficacy depended on PAS positive macrophage inclusions in duodenal biopsies. New diagnostic methods based on PCR gene amplification and immunohistochemistry are now available by DNA sequencing and culture, respectively, of the causal bacteria, which was recently renamed Tropheryma whipplei. Although results are still empirical, and the first randomized study is in progress, an evolution in the choice and duration of antibiotic treatment of this normally fatal disease has led to a marked reduction in clinical relapses, especially for neurological manifestations. The present review shows how recent medical advances have completely transformed the understanding of a disease first described a century ago. PMID:17925777

  15. Gaucher disease

    MedlinePlus

    Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases. ... is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents ...

  16. Periodontal Diseases

    MedlinePlus

    ... thought to begin when chalky white deposits called calculus accumulated near the gingiva, along the base of ... told their gingivitis would inevitably progress to periodontitis, advanced disease, and ultimately tooth loss. All people were ...

  17. Prostate Diseases

    MedlinePlus

    ... Types of Prostate Diseases Benign prostatic hyperplasia (BPH) Prostatitis Prostate cancer For men over the age of ... treatment. For men under the age of 50, prostatitis (inflammation of the prostate) is the most common ...

  18. Celiac Disease

    MedlinePlus

    ... brown rice syrup (often made from barley) cake flour (made from wheat) caramel color (occasionally made from barley) communion wafers ... disease) dry roasted nuts (processing agents may contain wheat flour or flavorings) fried chicken french fries (if they' ...

  19. Vaginal Diseases

    MedlinePlus

    ... some women have no symptoms. Common causes are bacterial infections, trichomoniasis, and yeast infections. Some other causes of vaginal symptoms include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems depends on the cause.

  20. Alzheimer disease

    MedlinePlus

    ... for their loved one's future care. The final phase of the disease may last from a few months to several years. During that time, the person becomes totally disabled. Death usually occurs from an infection or organ failure.