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Sample records for schamberg disease uncommon

  1. Recurrent purpura due to alcohol-related Schamberg's disease and its association with serum immunoglobulins: a longitudinal observation of a heavy drinker.

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    Bonnet, Udo; Selle, Claudia; Isbruch, Katrin; Isbruch, Katrin

    2016-10-31

    It is unusual for purpura to emerge as a result of drinking alcohol. Such a peculiarity was observed in a 55-year-old man with a 30-year history of heavy alcohol use. The Caucasian patient was studied for 11 years during several detoxification treatments. During the last 2 years of that period, purpuric rashes were newly observed. The asymptomatic purpura was limited to both lower limbs, self-limiting with abstinence, and reoccurring swiftly with alcohol relapse. This sequence was observed six times, suggesting a causative role of alcohol or its metabolites. A skin biopsy revealed histological features of purpura pigmentosa progressiva (termed Schamberg's disease). Additionally, alcoholic fatty liver disease markedly elevated serum immunoglobulins (immunoglobulin A and immunoglobulin E), activated T-lymphocytes, and increased C-reactive protein. In addition, moderate combined (cellular and humoral) immunodeficiency was found. Unlike the patient's immunoglobulin A level, his serum immunoglobulin E level fell in the first days of abstinence, which corresponded to the time of purpura decline. Systemic vasculitis and clotting disorders were excluded. The benign character of the purpura was supported by missing circulating immune complexes or complement activation. An alcohol provocation test with vinegar was followed by the development of fresh "cayenne pepper" spots characteristic of Schamberg's disease. This case report demonstrates that Schamberg's disease can be strongly related to alcohol intake, in our patient most likely as a late complication of severe alcoholism with alcoholic liver disease. Immunologic disturbances thereby acquired could have constituted a basis for a hypersensitivity-like reaction after ingestion of alcohol. Schamberg's disease induction by vinegar may point to an involvement of acetate, a metabolite of ethanol.

  2. Uncommon Presentation Of Bowen′s Disease

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    Dawn Goutam

    1995-01-01

    Full Text Available Bowen’s disease is desired as persistent, progressive, non- elevated, red scarry or crusted plaque, which is due to an intraepidermal carcinoma and is potentially malignant. Sunlight is considered as an important aetiological factor. In the past; arsenic exposure was also said to be important 1. The curaneous lesion of Bowen’s disease can sometimes be hyperkeratotic or fissured 2. Morphology can vary depending on site of involvement.

  3. Uncommon locations of hydatid disease: CT appearances

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    Gossios, K.J.; Kontoyiannis, D.S.; Dascalogiannaki, M.; Gourtsoyiannis, N.C.

    1997-01-01

    Hydatid disease (HD), already known by Hippocrates, is prevalent and widespread in most sheep-raising countries in Asia, Australia, South America, Near East, and southern Europe. The disease is most commonly due to Echinococcus granulosus and may occur in any organ or tissue. The location is mostly hepatic (75%) and pulmonary (15%), and only 10% occur in the rest of the body. Imaging modalities such as US, CT, and MR imaging are helpful in diagnosing the disease. The reliability of each method depends on the cyst's location in the body. The purpose of this essay is to illustrate the use of CT in depicting some unusual locations of HD besides the liver and lung. (orig.). With 18 figs

  4. Uncommon locations of hydatid disease: CT appearances

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    Gossios, K.J.; Kontoyiannis, D.S. [Department of Radiology, General Hospital of Ioannina, GR-450 01 Ioannina (Greece); Dascalogiannaki, M.; Gourtsoyiannis, N.C. [Department of Radiology, University of Crete Medical School, GR-711 10 Iraklion (Greece)

    1997-10-01

    Hydatid disease (HD), already known by Hippocrates, is prevalent and widespread in most sheep-raising countries in Asia, Australia, South America, Near East, and southern Europe. The disease is most commonly due to Echinococcus granulosus and may occur in any organ or tissue. The location is mostly hepatic (75%) and pulmonary (15%), and only 10% occur in the rest of the body. Imaging modalities such as US, CT, and MR imaging are helpful in diagnosing the disease. The reliability of each method depends on the cyst`s location in the body. The purpose of this essay is to illustrate the use of CT in depicting some unusual locations of HD besides the liver and lung. (orig.). With 18 figs.

  5. Uncommon Diseases of The Popliteal Artery: A Pictorial Review

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    Mohamed Jarraya

    2016-08-01

    Full Text Available Abstract Uncommon diseases of the popliteal artery include cystic adventitial disease, popliteal artery entrapment syndrome (PAES and popliteal artery aneurysm (PAA. Because all of these conditions may present with pain or intermittent claudication, imaging is crucial for differentiating them and directing management. Delayed diagnosis can lead to major complications, including acute limb ischemia. Our aim is to provide an illustrative overview of these conditions in order to make radiologists aware of them and avoid misdiagnosis for timely appropriate management. Teaching Points • Cystic adventitial disease diagnosis is based on evidence of cysts within artery walls. • A variety of anatomic variations may result in PAES. • PAES may be bilateral. • PAA is most commonly encountered in men. • Acute complications of PAA include acute thrombosis and distal embolization.

  6. Syphilitic hepatitis: An uncommon manifestation of a common disease

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    Sukriti Baveja

    2014-01-01

    Full Text Available 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.

  7. Ribbing disease: Uncommon cause of a common symptom

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    Damle, Nishikant Avinash; Patnecha, Manish; Kumar, Praveen; Gadodia, Ankur; Subbarao, Kiran; Bal, Chandrasekhar

    2011-01-01

    Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. It occurs after puberty and is more commonly seen in women. The most common presenting symptom is pain that is usually self-limited; however, progression is known. The etiology and optimal treatment for the disease are as yet undefined. We present here the case of a 31-year-old woman with clinical, radiological and bone scan manifestations of Ribbing disease corroborated by bone biopsy. Radiographs demonstrated cortical thickening of the diaphyses of both tibiae. 99mTc-methylene diphosphonate bone scan revealed intense irregular uptake in diaphyseal region of both tibiae. Magnetic resonance imaging showed cortical thickening with bone marrow edema in bilateral tibial diaphysis with minimal adjacent soft tissue edema. Bone biopsy revealed predominantly dense lamellar bone with irregular sized and spaced haversian systems. Serum and urine markers of bone metabolism were within normal limits. The patient was treated with analgesics, and had partial relief from pain. Medullary rimming is the next treatment option in case pain progresses. This report emphasizes the role of bone scan in the diagnosis of this rare condition

  8. Common and uncommon pathogenic cascades in lysosomal storage diseases.

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    Vitner, Einat B; Platt, Frances M; Futerman, Anthony H

    2010-07-02

    Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

  9. Salmonella Hepatitis: An Uncommon Complication of a Common Disease

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    Ritu Karoli

    2012-01-01

    Full Text Available Typhoid fever is a very common infectious disease of tropics, associated with high morbidity and mortality. Typhoid fever is often associated with hepatomegaly and mildly deranged liver functions; a clinical picture of acute hepatitis is a rare complication. We report a young patient who presented with fever and jaundice and was found to have acute hepatitis secondary to typhoid fever. Recognition of Salmonella hepatitis is of clinical importance as it can mimic acute viral hepatitis. Early institution of specific therapy can improve the prognosis in these patients.Typhoid fever is a very common infectious disease of tropics, associated with high morbidity and mortality. Typhoid fever is often associated with hepatomegaly and mildly deranged liver functions; a clinical picture of acute hepatitis is a rare complication. We report a young patient who presented with fever and jaundice and was found to have acute hepatitis secondary to typhoid fever. Recognition of Salmonella hepatitis is of clinical importance as it can mimic acute viral hepatitis. Early institution of specific therapy can improve the prognosis in these patients.

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

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    Liane Rabinowich

    2015-01-01

    Full Text Available 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.

  11. Cushing syndrome: maybe not so uncommon of an endocrine disease.

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    Guaraldi, Federica; Salvatori, Roberto

    2012-01-01

    Cushing syndrome (CS) is the result of extended exposure to excessive glucocorticoids from endogenous or exogenous sources. Traditionally, the most common cause of endogenous CS is a pituitary adenoma (Cushing disease). Less common causes are adrenocortical tumors and extrapituitary adrenocorticotropin-producing neoplasias. This review provides updated information regarding the potential for increased prevalence of CS in specific patient populations. Here the authors provide to family physicians clinical guidance for recognition of CS by presenting a case, discussing the advantages/disadvantages of the diagnostic tests, and discussing information about the treatment options. CS is expected to have an incidence of 10 to 15 people per million; however, studies of patients with diabetes, obesity, hypertension, and osteoporosis found a high prevalence of CS among these populations. The clinical manifestations of CS range from the distinctive clinical features (purple striae, facial plethora, proximal myopathy) to common conditions such as hypertension, obesity, and diabetes. Clinical practice guidelines recommend biochemical tests to screen patients for CS; however, the sensitivity and specificity of these tests vary, so a careful analysis must be performed to avoid misdiagnosis. CS is challenging to diagnose. Nevertheless, with a systematic approach to testing patients and an increased awareness of the high-risk patient populations, the disease can be identified in a timely manner.

  12. Acute calcific tendonitis of dorsal interosseous muscles of the hand: uncommon site of a frequent disease

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    D. Schneider

    2017-05-01

    Full Text Available Acute calcific tendinopathy is one of the manifestations of hydroxyapatite crystal deposition disease. While it is more frequent in the shoulder, it has been described in virtually all areas of the body, but rarely in the muscles of the hand. Its etiopathogenesis is not yet fully understood and despite being a fairly frequent condition, it is commonly misdiagnosed. The onset of the disease is usually acute and resolves spontaneously. Acute calcific tendinitis of the interosseous tendons of the hand is an uncommon site of a frequent condition. The clinical presentation is similar to other entities, thus errors in diagnosis frequently occur, resulting in over-treatment or unnecessary tests. We describe a case of acute calcific tendinitis of the interosseous muscles of the hand with a brief review of the current literature with emphasis on diagnostic imaging methods.

  13. An Uncommon Ocular Finding in Behçet’s Disease: Peripheral Ulcerative Keratitis

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    Orhan Ayar

    2014-12-01

    Full Text Available A 43-year-old female patient presented to our eye clinic with blurred vision and redness in the right eye for 2 weeks. Biomicroscopic examination revealed peripheral ulcerative keratitis with corneal thinning. After prescribing topical fluorometholon, moxifloxacin, preservative-free artificial tears, and vitamin A ointment, the patient was referred to Rheumatology department. Based on clinical findings and systemic research, the diagnosis of Behçet’s disease was established, and oral systemic azathioprine, hydroxychloroquine, and prednisolone treatment was started. In this study, we presented a case of peripheral ulcerative keratitis, an ocular manifestation uncommonly seen in Behçet’s disease. (Turk J Ophthalmol 2014; 44: 484-5

  14. Bilateral painful parotid lumps and a lump in the groin: An uncommon presentation of common Kikuchi's disease

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    Sumeet Prakash Mirgh

    2016-01-01

    Full Text Available Kikuchi-Fujimoto disease (KFD is an under-recognized disease most commonly presenting with cervical lymphadenopathy, fever, and cytopenias in young females. Bilateral parotid enlargement is usually caused by infections (e.g., mumps and autoimmune conditions (e.g., Sjogren syndrome. Parotid enlargement, inguinal lymphadenopathy, and pyrexia of unknown origin are uncommon presenting features of KFD and should be suspected in the appropriate setting.

  15. Febrile urticaria in a family: uncommon manifestation of a common disease.

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    Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

    2012-12-15

    Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

  16. Right hemithoracic pseudocyst with splenic artery aneurysm: two rare complications of uncommon disease

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    John Freels

    2006-06-01

    Full Text Available Pleural involvement is an uncommon but well recognized complication of chronic pancreatitis, mainly in the form of pleural effusion affecting the left hemithorax. Pancreatic pseudocyst extending to the posterior mediastinum with or without communication with the pleural space is another rare form of this involvement.The treatment of chronic pancreatic pleural effusions and pancreatic pseudocysts generally starts with a conservative approach including bowel rest, drainage of the pleural effusion by repeated thoracentesis or a chest tube, and total parenteral nutrition (TPN for a period of time determined by the clinical course. Other treatment modalities including percutaneous drainage, endoscopic retrograde cholangiopancreatogram (ERCP with stenting of the pancreatic duct and surgical drainage are used if conservative approaches fail.We report a patient with a complicated pancreatic pseudocyst who showed an involvement of the posterior mediastinum and right pleural space, with conspectus sparing of the left hemithorax. The patient had a prolonged and complicated course that included recurrence of the pseudocyst with oral feedings and the development of a splenic artery aneurysm. Some of the above findings have been reported separately as uncommon complications of chronic pancreatitis and pancreatic pseudcyst, but to our knowledge a single case with all these complications was not published in the English literature.

  17. tripleC-Interview mit Kerem Schamberger über Berufsverbote, linke Kommunikationswissenschaft und Kritik an der deutschen Wissenschaftslandschaft

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    Kerem Schamberger

    2017-01-01

    Full Text Available Kerem Schamberger ist ein Doktorand am Institut für Kommunikationswissenschaft und Medienforschung der Ludwig-Maximilians-Universität München. Er ist auch ein linker Aktivist und Mitglied der Deutschen Kommunistischen Partei (DKP. Im Zuge seiner Anstellung wurde auf Basis der bayrischen Gesetzeslage vom Bayrischen Verfassungsschutz geprüft, ob Kerem als verfassungsfeindlich gilt und ihm daher die Anstellung verweigert werden sollte. In der deutschen Mediensoziologie gab es mit Horst Holzer in den 1970er-Jahren einen ähnlichen Fall eines Berufsverbots, das damals durchgesetzt wurde. tripleC hat ein Interview mit Kerem geführt und ihn gebeten, die Hintergründe genauer zu erläutern. Das Interview wurde von Christian Fuchs und Thomas Allmer auf Deutsch geführt und ins Englische übersetzt.

  18. Systemic lupus erythematosus pancreatitis: an uncommon presentation of a common disease.

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    Rodriguez, Eduardo A; Sussman, Daniel A; Rodriguez, Vanessa R

    2014-11-17

    Acute pancreatitis is uncommon in systemic lupus erythematosus (SLE). When recognized early and properly treated with IV steroids and hydration, the course may be benign, as exemplified in the following report. A 21-year-old woman with history of SLE and stage IV lupus nephritis, was admitted to the Sergio Bernales Hospital ICU (Lima, Peru), complaining of worsening epigastric pain radiating to the back, and nausea and vomiting for 1 week. She denied prior cholelithiasis, alcohol use, or recent medication changes. On examination, she was tachycardic and normotensive, with a slightly distended abdomen and epigastric tenderness on deep palpation, without signs of peritoneal irritation. Laboratory results demonstrated leukocytosis without left shift, creatinine of 2.26 mg/dL, amylase of 750 U/L, and lipase of 1038 U/L. Liver chemistries, calcium, lactic acid, triglycerides, and IgG4 were normal and alcohol level was undetectable. Ultrasound did not show cholelithiasis, biliary sludge, or common bile duct dilation. CT of the abdomen showed pancreas head (parenchyma) stranding with uniform enhancement consistent with interstitial pancreatitis. Despite receiving IV fluids, opiates, anti-emetics, and nothing by mouth, her clinical condition deteriorated, prompting the use of IV methylprednisolone. After completing 1 week of IV steroids, she was transferred to the medical floor clinically improved. The patient was discharged with an oral steroid taper and complete resolution of symptoms. After ruling out common causes, such as hepatobiliary pathology or toxin-related insults like alcohol, hypercalcemia, hypertriglyceridemia or medications, steroids may be used in SLE pancreatitis because they might improve the overall prognosis.

  19. Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes

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    Duda Marlena

    2012-11-01

    Full Text Available Abstract Background Technological leaps in genome sequencing have resulted in a surge in discovery of human disease genes. These discoveries have led to increased clarity on the molecular pathology of disease and have also demonstrated considerable overlap in the genetic roots of human diseases. In light of this large genetic overlap, we tested whether cross-disease research approaches lead to faster, more impactful discoveries. Methods We leveraged several gene-disease association databases to calculate a Mutual Citation Score (MCS for 10,853 pairs of genetically related diseases to measure the frequency of cross-citation between research fields. To assess the importance of cooperative research, we computed an Individual Disease Cooperation Score (ICS and the average publication rate for each disease. Results For all disease pairs with one gene in common, we found that the degree of genetic overlap was a poor predictor of cooperation (r2=0.3198 and that the vast majority of disease pairs (89.56% never cited previous discoveries of the same gene in a different disease, irrespective of the level of genetic similarity between the diseases. A fraction (0.25% of the pairs demonstrated cross-citation in greater than 5% of their published genetic discoveries and 0.037% cross-referenced discoveries more than 10% of the time. We found strong positive correlations between ICS and publication rate (r2=0.7931, and an even stronger correlation between the publication rate and the number of cross-referenced diseases (r2=0.8585. These results suggested that cross-disease research may have the potential to yield novel discoveries at a faster pace than singular disease research. Conclusions Our findings suggest that the frequency of cross-disease study is low despite the high level of genetic similarity among many human diseases, and that collaborative methods may accelerate and increase the impact of new genetic discoveries. Until we have a better

  20. Moyamoya Disease – a Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents

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    Yasmin S Hamirani

    2008-09-01

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    Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging.

  1. Common and Uncommon Conditions of Breast Disease in Children and Adolescents: A Pictorial Review

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    Cho, Hyoun; Kim, Kyu Soon; Kim, Da Mi [Dept. of f Radiology, Eulji University Hospital, Daejeon (Korea, Republic of); Kim, You Me [Dept. of Radiology, Dankook University Hospital, Cheonan (Korea, Republic of); Kim, Hak Hee [Dept. of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2013-02-15

    The purpose of this study is to review various breast diseases in children and adolescents and to illustrate the sonographic findings. We reviewed the cases at our institution in order to identify breast disease in children and adolescent patients who underwent sonography and mammography. Breast disease in children and adolescents included developmental disturbance, infection, benign tumors and inherent defects. In contrast to adults, the radiologic findings of malignant breast conditions in pediatric populations have rarely been reported; however, we show ductal carcinoma in situ with juvenile fibroadenoma and rhabdomyosarcoma. During childhood and adolescence, the recognition and correct identification of physiologic breast development and specific lesions in breast entities on radiologic findings is most helpful in identifying and characterizing abnormalities and in guiding further investigation.

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

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    Upadhyay, R.; Kumar, P.; Sharma, D.N.; Haresh, K.P.; Gupta, S.; Julka, P.K.; Rath, G.K.; Bhankar, H.

    2016-01-01

    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 60 year old male

  3. An uncommon presentation of Kikuchi Fujimoto disease: a case report with literature review.

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    Ranabhat, Sabin; Tiwari, Mamta; Kshetri, Jiwan; Maharjan, Sushna; Osti, Bidur Prasad

    2015-09-26

    Kikuchi-Fujimoto disease is so named because Kikuchi and Fujimoto were the first scientists to describe it in Japan in 1972. Although the disease has been reported from all over the world and more so from Asia, it is rare. To date only eight cases have been reported from Nepal. Cervical lymphadenopathy, fever and raised Erythrocyte Sedimentation Rate are usual presenting features of this disease. We describe a case which presented with thrombocytopenia and axillary lymphadenopathy in addition to the usual features. Out of the total eight cases that have been reported from Nepal so far, no patients had thrombocytopenia and only one patient had axillary lymphadenopathy. A 24-year-old Nepali female presented with a 3-week history of low-grade fever, headache, and painful, discrete, unilateral left-sided cervical and axillary lymphadenopathy. Among the multitude of tests that were carried out, Erythrocyte Sedimentation Rate was raised and there was thrombocytopenia while other tests were normal. Painful lymphadenopathy pointed to bacterial lymphadenitis while chronic low-grade fever suggested tuberculosis. A cervical lymph node was excised for histopathological examination to reach an accurate diagnosis. On the basis of pathognomonic features viz., paracortical foci composed of various types of histiocytes including crescentic type in the background of abundant apoptotic karyorrhectic debris, a diagnosis of Kikuchi-Fujimoto disease was made. On follow-up evaluation after 6 weeks, the patient had no systemic symptoms, enlarged lymph nodes had regressed in size significantly, and Erythrocyte Sedimentation Rate and platelet count had become normal. Kikuchi-Fujimoto disease should be kept in the differential diagnosis of lymphadenopathy in young patients, female or male even in tuberculosis-endemic countries and even in patients who have unusual features; for example thrombocytopenia and involvement of axillary lymph nodes in addition to cervical lymph nodes as in this

  4. Uncommon and Neglected Venezuelan Viral Diseases: Etiologic Agents, Physiopathological, Clinical and Epidemiological Characteristics

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    Juan C. Gabaldon-Figueira

    2015-10-01

    Full Text Available Abstract (english Viral infectious diseases are common in Venezuela, influenza, dengue, yellow fever, HIV infection, viral Hepatitis, chikungunya fever and many others represent public health problems in the country and therefore, have been well documented. However, other rarer and even unique or lethal viral illnesses present in Venezuela are usually poorly understood or even unknown. This review described Venezuelan Hemorrhagic Fever, Venezuelan Equine Encephalitis, Hantavirus Infections and Mayaro fever, named as neglected diseases, emphasizing the etiologic agents and their most relevant pathogenic mechanisms, clinical and epidemiological characteristics. Although there is not an official report about the re-emergence of these diseases, falling living standards and unsanitary conditions, together with limited accessibility to hygiene products and medical supplies, put us on alert about the re-emergence of these neglected diseases. Resumen (español Las enfermedades infecciosas virales son comunes en Venezuela, influenza, dengue, fiebre amarilla, infección por VIH, hepatitis viral, fiebre chikungunya y muchas otras representan problemas de salud pública en el país y por lo tanto, han sido bien documentadas. Sin embargo, otras enfermedades virales más raras e incluso únicas y letales presentes en Venezuela son generalmente poco estudiadas y hasta desconocidas. Esta revisión describe alguna de estas enfermedades olvidadas tales como la fiebre hemorrágica venezolana, la encefalitis equina venezolana, las infecciones por hantavirus y la fiebre de Mayaro, haciendo hincapié en los agentes etiológicos y en sus mecanismos patogénicos más relevantes, características clínicas y epidemiológicas. Aunque no hay informes oficiales sobre el resurgimiento de estas enfermedades, la caída de los niveles de vida y las condiciones insalubres, junto con el acceso limitado a los productos de higiene y suministros médicos, debe alertar sobre el

  5. Orbital Pseudotumor: Uncommon Initial Presentation of IgG4-Related Disease

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    Teresa Carbone

    2015-01-01

    Full Text Available IgG4-related disease (IgG4-RD encompasses a group of fibroinflammatory conditions recognized in recent times. The main clinical features include variable degrees of tissue fibrosis, tumorlike expansions, perivascular lymphocytic infiltration rich in IgG4-positive plasma cells, and elevated serum IgG4. A case has been reported of an elderly patient with an unexplained unilateral exophthalmia; biopsy was performed and revealed lymphocytic infiltration, suggesting IgG4-RD. High serum levels of IgG4, in association with a good response to steroid therapy and to the exclusion of other diagnoses, confirmed the hypothesis of orbital pseudotumor by IgG4-RD.

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

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    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.

  7. Developing and Testing a High-Fidelity Simulation Scenario for an Uncommon Life-Threatening Disease: Severe Malaria

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    Andrew Kestler

    2011-01-01

    Full Text Available Background. Severe malaria is prevalent globally, yet it is an uncommon disease posing a challenge to education in nonendemic countries. High-fidelity simulation (sim may be well suited to teaching its management. Objective. To develop and evaluate a teaching tool for severe malaria, using sim. Methods. A severe malaria sim scenario was developed based on 5 learning objectives. Sim sessions, conducted at an academic center, utilized METI ECS mannequin. After sim, participants received standardized debriefing and completed a test assessing learning and a survey assessing views on sim efficacy. Results. 29 participants included 3rd year medical students (65%, 3rd year EM residents (28%, and EM nurses (7%. Participants scored average 85% on questions related to learning objectives. 93% felt that sim was effective or very effective in teaching severe malaria, and 83% rated it most effective. All respondents felt that sim increased their knowledge on malaria. Conclusion. Sim is an effective tool for teaching severe malaria in and may be superior to other modalities.

  8. Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man

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    Isman-Nelkenbaum, G.; Wolach, B.; Gavrieli, R.; Roos, D.; Sprecher, E.; Bash, E.; Gat, A.; Sprecher, H.; Ben-Ami, R.; Zeeli, T.

    2011-01-01

    Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250 000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin

  9. A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

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    Marco Ceccanti

    2016-11-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

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

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    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. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. Urinary Schistosomiasis in an Adolescent Refugee from Africa: An Uncommon Cause of Hematuria and an Emerging Infectious Disease in Europe.

    Science.gov (United States)

    Poddighe, Dimitri; Castelli, Lucia; Pulcrano, Giovanna; Grosini, Alessia; Balzaretti, Michela; Spadaro, Salvatore; Bruni, Paola

    2016-10-01

    We report a case of urinary schistosomiasis in an adolescent refugee from Gambia (arrived to Italy illegally), who was brought to the Emergency Department of our hospital. The patient complained of gross hematuria and, in the absence of clinical evidence of bacterial urinary infection, was admitted to the pediatric ward, considering his provenience and social setting. An appropriate collection and microscopic analysis of urine samples led to the detection of bilharzia. Much attention should be paid to this emerging disease in Europe by physicians in order to recognize and treat it timely, which could prevent future and higher costs for public health systems and could reduce the potential risk of environmental spreading. In fact, there are some areas in Italy where the parasite can find its intermediate host to complete its lifecycle.

  12. Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib

    Directory of Open Access Journals (Sweden)

    Karl R. Sorenson

    2017-08-01

    Full Text Available Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2 overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations.

  13. Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib.

    Science.gov (United States)

    Sorenson, Karl R; Piovezani Ramos, Guilherme; Villasboas Bisneto, Jose Caetano; Price, Katharine

    2017-01-01

    Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2) overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations.

  14. Uncommon breast lesions. Radiologic and pathologic findings

    International Nuclear Information System (INIS)

    Velasco, M.; Santamaria, G.; Pages, M.; Fernandez, P.; Farrus, B.

    1998-01-01

    To illustrate the radiologic findings in several uncommon breast and infrequent diseases that present with unusual mammographic images. We reviewed the mammograms performed in our department between 1998 and 1995, selecting 16 patients (12 women and 4 men). Nine patients had benign breast lesions (adenomyoepithelioma, epidermal cyst, adenoid cystic carcinoma, myofibroblastoma, multiple hamartomas, intra cystic papillomas, lipoma, idiopathic granulomatous mastitis and fat necrosis) and 7 patients presented malignant breast diseases (malignant fibrous histiocytoma, intra cystic carcinoma, primary lymphoma of the breast, liposarcoma and metastasis). We present a review of the radiologic and pathologic findings in several uncommon breast diseases. (Author) 14 refs

  15. Uncommon Species and Other Features

    Data.gov (United States)

    Vermont Center for Geographic Information — The Vermont Fish and Wildlife Department's Natural Heritage Inventory (NHI) maintains a database of uncommon, rare, threatened and endangered species and natural...

  16. Case studies of uncommon headaches.

    Science.gov (United States)

    Evans, Randolph W

    2006-05-01

    The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia.

  17. Uncommon adrenal masses: CT and MRI features with histopathologic correlation

    International Nuclear Information System (INIS)

    Guo Yingkun; Yang Zhigang; Li Yuan; Deng Yuping; Ma Ensen; Min Pengqiu; Zhang Xiaochun

    2007-01-01

    Adrenal glands are common sites of diseases. With dramatically increased use of computed tomography (CT) and magnetic resonance (MR) imaging, more and more uncommon adrenal masses have been detected incidentally at abdominal examinations performed for other purposes. In this article, uncommon adrenal masses are classified as cystic masses (endothelial cysts, epithelial cysts, parasitic cysts, and pseudocysts), solid masses (ganglioneuroma, ganglioneuroblastoma, extramedullary plasmacytoma (EMP), neurilemmoma, and lymphoma), fat-containing masses (myelolipoma, teratoma), and infectious masses (tuberculoma), and the imaging features of these uncommon masses are demonstrated. Although most of these lesions do not have specific imaging features, some fat-containing masses and cystic lesions present with characteristic appearances, such as myelolipoma, teratoma, and hydatid. Combination with histopathologic characteristic of these uncommon masses of adrenal gland, radiological features of these lesions on CT and MR imaging can be accurately understood with more confidences. Moreover, CT and MRI are highly accurate in localization of uncommon adrenal masses, and useful to guide surgical treatments

  18. Uncommon presentation of neuro- cysticercosis

    African Journals Online (AJOL)

    Uncommon presentation of neuro- cysticercosis. Neurocysticercosis (NCC) is a common parasitic infection of the central nervous system caused by the pork tapeworm Taenia solium. The clinical presentation of NCC in children includes generalised and partial seizures with or without features of raised intracranial pressure.

  19. Bednar Tumor: An Uncommon Entity.

    Science.gov (United States)

    Amonkar, Gayathri P; Rupani, Asha; Shah, Ajay; Deshpande, Ramesh

    2016-01-01

    Bednar tumor is an uncommon variant of dermatofibrosarcoma protuberans. Also known as pigmented dermatofibrosarcoma protuberans, this tumor is of intermediate grade. It is seen in adults and has a predisposition to affect the shoulder region. We report a rare case of Bednar tumor in a 40-year-old female patient. The diagnosis of Bednar tumor must be considered while reporting pigmented subcutaneous spindle cell lesions.

  20. Breast cancer metastases to the thyroid gland - an uncommon sentinel for diffuse metastatic disease: a case report and review of the literature.

    Science.gov (United States)

    Plonczak, Agata M; DiMarco, Aimee N; Dina, Roberto; Gujral, Dorothy M; Palazzo, Fausto F

    2017-09-22

    Metastases to the thyroid are rare. The most common primary cancer to metastasize to the thyroid is renal cell carcinoma, followed by malignancies of the gastrointestinal tract, lungs, and skin, with breast cancer metastases to the thyroid being rare. Overall, the outcomes in malignancies that have metastasized to the thyroid are poor. There are no prospective studies addressing the role of surgery in metastatic disease of the thyroid. Isolated thyroidectomy has been proposed as a local disease control option to palliate and prevent the potential morbidity of tumor extension related to the airway. Here, we present a case of a patient with breast cancer metastases to the thyroid gland and discuss the role of thyroidectomy in the context of the current literature. A 62-year-old Afro-Caribbean woman was diagnosed as having bilateral breast carcinoma in 2004, for which she underwent bilateral mastectomy. The pathology revealed multifocal disease on the right, T2N0(0/20)M0 grade 1 and 2 invasive ductal carcinoma, and on the left side, T3N1(2/18)M0 grade 1 invasive ductal carcinoma. Surgery was followed by adjuvant chemotherapy and regional radiotherapy. The disease was under control on hormonal therapy until 2016, when she developed cervical lymphadenopathy. The fine-needle aspiration cytology of the thyroid was reported as papillary thyroid cancer; and the fine-needle biopsy of the left lateral nodal disease was more suggestive of breast malignancy. She underwent a total thyroidectomy and a clearance of the central compartment lymph nodes and a biopsy of the lateral nodal disease. The histopathological analysis was consistent with metastatic breast cancer in the thyroid and lymph nodes with no evidence of a primary thyroid malignancy. A past history of a malignancy elsewhere should raise the index of suspicion of metastatic disease in patients presenting with thyroid lumps with or without cervical lymphadenopathy. Detection of metastases to the thyroid generally

  1. Uncommon paths in quantum physics

    CERN Document Server

    Kazakov, Konstantin V

    2014-01-01

    Quantum mechanics is one of the most fascinating, and at the same time most controversial, branches of contemporary science. Disputes have accompanied this science since its birth and have not ceased to this day. Uncommon Paths in Quantum Physics allows the reader to contemplate deeply some ideas and methods that are seldom met in the contemporary literature. Instead of widespread recipes of mathematical physics, based on the solutions of integro-differential equations, the book follows logical and partly intuitional derivations of non-commutative algebra. Readers can directly penetrate the

  2. Uncommon surgical emergencies in neonatology

    Directory of Open Access Journals (Sweden)

    R. Angotti

    2014-12-01

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

  3. Mastopatia Diabética: Causa Incomum de Doença Inflamatória da Mama Diabetic Mastopathy: Uncommon Cause of Inflammatory Disease of the Breast

    Directory of Open Access Journals (Sweden)

    Juvenal Mottola Jr.

    2002-09-01

    histopathologic analysis, and diabetic mastopathy was diagnosed. Results: the patients' average age was 50.2 years, and all had insulin-dependent diabetes mellitus, with average disease time of 14.9 years. All patients, with no exception, had a bad glycemic control; the average blood glucose was 329.6 mg/dL and the glycosilated hemoglobin average was 9.7%. NPH insulin dose being applied per day was 37.2 units. Patients underwent a clinical treatment with antibiotics and control of the glycemic levels with NPH insulin and had resolution of the symptoms in about five weeks. Conclusion: the professionals involved in women health care must be aware of this inflammatory pathology of the breast and its benign characteristics to avoid unnecessary procedures sometimes with patient injury.

  4. Childhood Xantho granulomatous Pyelonephritis; an Uncommon Entity

    International Nuclear Information System (INIS)

    Bravo-Bravo, C.; Martinez-Leon, M. I.; Ceres-Ruiz, L.; Weil-Lara, B.

    2003-01-01

    Xanthogranulomotous pyelonephritis is an uncommon chronic inflammatory illness characterized by the replacement of renal parenchyma with a cellular infiltration of lipid-laden macrophages. There are few cases in the literature which describe the disease in children. Its pathogenesis remains unknown, although in up to 76% of cases it has been related to lithiasic obstruction of the pyeloureteral junction. Escherichia coli and Proteus mirabilis are most often cited as being the causing bacteria. Since neither its clinical characteristics nor radiological manifestations are specific, it is frequently infra diagnosed, Its definitive diagnosis is anatomophatological, and it is treated by nephrectomy. We present the case of a child with poorly evolving pyonephrosis diagnosed after the anatomopathological study of a renal sample. Special not is made of the importance of performing a preoperative diagnosis, and including such in a differential diagnosis with slowly evolving infectious/obstructive processes. (Author) 11 refs

  5. Secondary Syphilis: Uncommon Manifestations a Common Disease

    OpenAIRE

    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 h...

  6. Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

    Science.gov (United States)

    Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

    2016-07-01

    Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

  7. Uncommon locations of hydatid cyst

    International Nuclear Information System (INIS)

    Bal, N.; Kocer, Nazim E.; Kayaselcuk, F.; Ezer, A.; Arpaci, R.

    2008-01-01

    The objective was to document the hydatid cyst cases in the endemic Cukurova region of Turkey, by their involvement sites in the body, and discuss the clinical and morphological features of the cases with rare localization. Archival materials of 153 hydatid cyst cases that were diagnosed in 2 different medical centers in Adana, Turkey Cukurova region between the years 2000-2006 were included in the study. Cases with rare localizations were re-evaluated in terms of clinical and laboratory findings, and histopathological features. Involvement sites of the cases were documented, cases with rare localizations are discussed. The liver was the most common localization with 63 cases followed by lungs with 54 cases. Uncommon locations were spleen n=4, bone n=3, intra-arterial n=1, ovary n=1, adrenal n=1, heart n=1, mesenteric n=2, retroperitoneal n=2, subcutaneous tissue n=4, breast n=1, intramuscular tissue n=4. The diagnosis of hydatic cyst should be considered in patients with a cystic mass, who live or have lived in a geographic region that has a high risk for Echinococcus granulosus, or visited an endemic area. (author)

  8. Progressive Pigmentary Purpura

    Science.gov (United States)

    ... Category: Share: Yes No, Keep Private Progressive Pigmentary Purpura Share | Progressive pigmentary purpura (we will call it PPP) is a group ... conditions ( Schamberg's disease , Lichenoid dermatitis of Gourgerot-Blum, purpura annularis telangiectodes of Majocchi and Lichen aureus). Schamberg's ...

  9. ENDOCARDITIS WITH AN UNCOMMON GERM

    Directory of Open Access Journals (Sweden)

    M. Gharouni

    2006-07-01

    Full Text Available Enterococci are normal inhabitants of gastrointestinal tract, being responsible for 5 to 18% of infective endocarditis and the incidence appears to be increasing. Eleven patients with enterococcal endocarditis were studied. In a case series group, 10 men (average 57 years and one woman (37 years were studied. Two patients had rheumatic heart disease, 5 patients arteriosclerotic disease and one patient chronic renal failure on hemodialysis. Ten patients were treated with ampicillin and gentamycin. Valve replacement was performed in 3 patients with aortic valve endocarditis, one on 8th day and two at the end of the treatment. Overall clinical cure was achieved in 9 patients. Two relapses occurred and 2 patients died as a result of refractory congestive heart failure and cerebral emboli. All of the enterococcal endocarditis cases were community acquired. In conclusion, infective endocarditis in patients with preexistent valvular heart disease, community acquisition and non specific symptoms with bacteriuria should be considered as enterococcal endocarditis.

  10. Uncommon opportunistic yeast bloodstream infections from Qatar

    NARCIS (Netherlands)

    Taj-Aldeen, S.J.; AbdulWahab, A.; Kolecka, A.; Deshmukh, A.; Meis, J.F.G.M.; Boekhout, T.

    2014-01-01

    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

  11. Developing Textbook Materials in Uncommon Languages.

    Science.gov (United States)

    Lathrop, Thomas A.

    Guidelines are offered for preparing and publishing textbook materials in Portuguese and other uncommonly taught languages. The available options for publishing Portuguese materials include two textbook publishers, three university presses, self-publication, and the Cabrilho Press, which produces language textbooks. Methods for submitting…

  12. Pelvic hydatid cyst with uncommon sciatalgia manifestation: a case report

    Directory of Open Access Journals (Sweden)

    Ghodratolah Maddah

    2013-11-01

    Full Text Available Background: Hydatid disease or echinococcosis is a common parasitic disease of human and bovine, caused by infection with larva of the cestode echinococcus. Liver is the most common organ that is involved in this disease. Pelvic involvement and neurological symptoms, due to mass effect of pelvic involvement, in lower extremities are very uncommon manifestations of the disease.Case presentation: A forty six year old man was referred to clinic of surgery at Ghaem Hospital, Medical University of Mashhad, Iran. The patient complained about weakness and motor impairment in right lower extremity accompanied by numbness and radicular pain over past two months. Physical examination demonstrated muscular atrophy and reduced muscular strength in right lower extremity. Computed tomography and ultrasonographic studies showed a cystic mass in right side of the pelvic cavity with extention to the sciatic notch and another cystic mass in right gluteal region. Surgical operation revealed a cystic mass deep in pelvic cavity with the extention to the right sciatic notch with compression of nerve roots. The cystic mass was contained of daughter cysts which confirmed the diagnosis of hydatid cyst disease. This diagnosis was confirmed by pathologic assessment.Conclusion: Although uncommon, but hydatid disease can involve the pelvic cavity and make a pelvic, usually cystic, mass; that can make compression on nerve roots and so making neurologic symptoms in lower extremities. So in endemic areas for hydatid disease, such as Iran, pelvic hydatid cysts should be considered as a possible differential diagnosis in patients presenting with the sciatic pain and neurological manifestations in whom a pelvic mass has been found too.

  13. Uncommon toxicity of low-dose methotrexate: case report

    Directory of Open Access Journals (Sweden)

    Zohreh Yousefi

    2015-10-01

    Full Text Available Background: Standard treatment of Gestational Trophoblastic Disease (GTD is chemotherapy. Single-agent chemotherapy regime including Methotrexate (MTX or Actinomycin. Single-agent is widely used in treatment of persistent trophoblastic disease. We reported an uncommon toxicity of low-dose single-agent methotrexate in a patient. Case Presentation: A 20-year-old woman, primary gravid after two months missed period and spotting with diagnosis of incomplete abortion with uterine size equivalent of ten weeks pregnancy (8-10 cm underwent evacuation curettage. In serial follow-up, based on rise of beta-hCG titer and absence of metastatic disease, it was categorized as low-risk persistent trophoblastic disease. She was referred to gynecology oncology center of Ghaem Hospital, Mashhad University of Medical Sciences in May 2014. Because of rise of beta-hCG titer, after complete metastatic work-up and lack of disease in other sites, persistent disease was diagnosed and candidate for chemotherapy (single agent low-dose. The patient received first course of therapy with MTX (50 mg/m², intra muscular. Unfortunately, after two days of treatment she developed uncommon severe toxicity, fever, severe nausea and vomiting, tachycardia, and generalized weakness. Also, we found hematologic abnormality (WBC: -14000-15000 µI, platelet- 540 µI and sever neutropenia, and abnormal rising in liver function test (SGOT, SGPT (three to four times and renal function test (BUN and Creatinine (two times. In addition, she had disseminated erosive lesion in all of body especially in face. Due to the fatal side effects of chemotherapy, she was admitted to intensive care unit (ICU. Fortunately, after two to three weeks, she was improved by conservative management. After few weeks beta-hCG titer was in normal limit. However she had normal serial beta-hCG in one year of follow-up. Conclusion: It is important to emphasis unpredictable side effects of chemotherapy with low

  14. Is pneumothorax after acupuncture so uncommon?

    DEFF Research Database (Denmark)

    Stenger, Michael; Bauer, Nicki Eithz; Licht, Peter B

    2013-01-01

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

  15. Xanthogranulomatous pyelonephritis: an uncommon pediatric renal mass

    Energy Technology Data Exchange (ETDEWEB)

    Smith, Ethan A.; Dillman, Jonathan R. [University of Michigan Health System, C. S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Styn, Nicholas; Wan, Julian [University of Michigan Health System, C. S. Mott Children' s Hospital, Department of Urology, Ann Arbor, MI (United States); McHugh, Jonathan [University of Michigan Health System, C. S. Mott Children' s Hospital, Department of Pathology, Ann Arbor, MI (United States)

    2010-08-15

    Xanthogranulomatous pyelonephritis (XGP) is a chronic suppurative infectious process that only rarely affects pediatric patients, and most commonly occurs in the setting of a large obstructing calculus. Histologically, XGP is characterized by the presence of chronic inflammation and lipid-laden macrophages. This case report illustrates the radiological, surgical, and pathologic findings in a young patient who presented to our institution for treatment of this uncommon condition. Although rare, xanthogranulomatous pyelonephritis is a clinically important entity that can affect pediatric patients. This condition should be considered in the differential diagnosis for an atypical-appearing renal mass. (orig.)

  16. Elastofibroma Dorsi: An Uncommon Benign Pseudotumour

    Directory of Open Access Journals (Sweden)

    C. R. Chandrasekar

    2008-01-01

    Full Text Available Elastofibroma dorsi is an uncommon benign soft tissue pseudotumour usually located at the lower pole of the scapula, deep to serratus anterior, and often attached to the periosteum of the ribs, presenting with long history of swelling and occasionally pain and discomfort. This lesion is usually seen in patients over the age of 50 years and is not uncommonly mistaken as a malignant tumour because of its size and location deep to the periscapular muscles. Review of the orthopaedic oncology database of 17 500 patients revealed that there were 15 patients with elastofibroma dorsi. There were 12 males and 3 females, mean age at diagnosis of 68.4 years range 51–79 years. The diagnosis was confirmed by MRI in 3 patients, excision biopsy in 3 patients, trucut biopsy in 8 patients and open biopsy in 1 patient. Eight patients had excision of the lesion which was symptomatic. There have been no recurrences. We highlight the clinical and radiological presentation of elastofibroma dorsi to increase awareness of its existence and management.

  17. Solving the uncommon reactor core neutronics problems

    International Nuclear Information System (INIS)

    Vondy, D.R.; Fowler, T.B.

    1980-01-01

    The common reactor core neutronics problems have fundamental neutron space, energy spectrum solutions. Typically the most positive eigenvalue is associated with an all-positive flux for the pseudo-steady-state condition (k/sub eff/), or the critical state is to be effected by selective adjustment of some variable such as the fuel concentration. With sophistication in reactor analysis has come the demand for solutions of other, uncommon neutronics problems. Importance functionss are needed for sensitivity and uncertainty analyses, as for ratios of intergral reaction rates such as the fuel conversion (breeding) ratio. The dominant higher harmonic solution is needed in stability analysis. Typically the desired neutronics solution must contain negative values to qualify as a higher harmonic or to satisfy a fixed source containing negative values. Both regular and adjoint solutions are of interest as are special integrals of the solutions to support analysis

  18. An Uncommon Cause of Stroke: Non-bacterial Thrombotic Endocarditis.

    Science.gov (United States)

    Gundersen, Hilde; Moynihan, Barry

    2016-10-01

    Our objective is to present the case of an uncommon but probably under-recognized cause of stroke: Non-bacterial thrombotic endocarditis (NBTE). A 59-year-old man presented to our hospital with multiple bihemispheric infarcts despite taking rivaroxaban for pulmonary emboli diagnosed 2 weeks earlier. The patient's symptoms progressed quickly and he died within a week of his initial presentation despite attempts at neuroradiologically guided clot retrieval and early recognition and treatment of disseminated intravascular coagulation. On postmortem examination it was discovered that he had an undiagnosed squamous cell adenocarcinoma of the lung and NBTE. NBTE is difficult to diagnose and difficult to treat. It is associated with a mortality rate and is often not diagnosed until autopsy. However there are case reports in the literature where NBTE has been successfully treated. Early recognition and prompt treatment of the underlying disease process is the essential first step. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  19. Allergy to uncommon pets: new allergies but the same allergens.

    Directory of Open Access Journals (Sweden)

    Araceli eDiaz-Perales

    2013-12-01

    Full Text Available 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 3 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.

  20. Primary intestinal hodgkin′s lymphoma: An uncommon presentation

    Directory of Open Access Journals (Sweden)

    Shruti Sharma

    2013-01-01

    Full Text Available Primary intestinal lymphoma is a rare lymphoproliferative neoplasm of the small intestine. The primary nature is established on the basis of lack of evidence of lymphoma on chest X-ray, computerized tomographic scan, peripheral blood or bone marrow puncture. Tumor involvement is limited to the gastrointestinal tract, the criteria for inclusion are that the symptoms related to the small intestine are predominant or the only symptoms at the time of laparotomy. Hodgkin′s lymphoma (HL primarily in the small intestine is a rare entity and an uncommon presentation of the disease. Ileum is the more common site of infliction than the jejunum because of its abundant lymphoid follicles. Here, we present a case of primary intestinal HL, in a 30-year-old male.

  1. Tetralogy of fallot in down syndrome (trisomy 21) - an uncommon association

    International Nuclear Information System (INIS)

    Rashid, A.K.M.M.; Basu, B.; Rahman, M.M.

    2009-01-01

    Down Syndrome (trisomy 21) is the common disorder among chromosomal anomalies. This is frequently associated with congenital a cyanotic heart disease. Tetralogy of fallot is an uncommon event in the trisomy 21. Tetralogy of fallot presents with cyanosis usually in the later part of infancy, but cyanosis is present since birth if Tetralogy of Fallot is accompanied with Down Syndrome. (author)

  2. Extraordinary electronic properties in uncommon structure types

    Science.gov (United States)

    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

  3. Uncommon mucosal metastases to the stomach

    Directory of Open Access Journals (Sweden)

    Kanthan R

    2009-08-01

    Full Text Available Abstract 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.

  4. Imaging appearances and endovascular management of uncommon pseudoaneurysms

    International Nuclear Information System (INIS)

    Burli, P.; Winterbottom, A.P.; Cousins, C.; Appleton, D.S.; See, T.C.

    2008-01-01

    Pseudoaneurysms are uncommon and their aetiology is varied. They occur in numerous anatomical locations and present with a multitude of clinical presentations sometimes life-threatening. This review describes the causes, sites, and presentations of uncommon pseudoaneurysms, as well as illustrating their diagnostic appearances and endovascular management

  5. Unusual Development of Iatrogenic Complex, Mixed Biliary and Duodenal Fistulas Complicating Roux-en-Y Antrectomy for Stenotic Peptic Disease of the Supraampullary Duodenum Requiring Whipple Procedure: An Uncommon Clinical Dilemma.

    Science.gov (United States)

    Polistina, Francesco A; Costantin, Giorgio; Settin, Alessandro; Lumachi, Franco; Ambrosino, Giovanni

    2010-10-23

    Complex fistulas of the duodenum and biliary tree are severe complications of gastric surgery. The association of duodenal and major biliary fistulas occurs rarely and is a major challenge for treatment. They may occur during virtually any kind of operation, but they are more frequent in cases complicated by the presence of difficult duodenal ulcers or cancer, with a mortality rate of up to 35%. Options for treatment are many and range from simple drainage to extended resections and difficult reconstructions. Conservative treatment is the choice for well-drained fistulas, but some cases require reoperation. Very little is known about reoperation techniques and technical selection of the right patients. We present the case of a complex iatrogenic duodenal and biliary fistula. A 42-year-old Caucasian man with a diagnosis of postoperative peritonitis had been operated on 3 days earlier; an antrectomy with a Roux-en-Y reconstruction for stenotic peptic disease was performed. Conservative treatment was attempted with mixed results. Two more operations were required to achieve a definitive resolution of the fistula and related local complications. The decision was made to perform a pancreatoduodenectomy with subsequent reconstruction on a double jejunal loop. The patient did well and was discharged on postoperative day 17. In our experience pancreaticoduodenectomy may be an effective treatment of refractory and complex iatrogenic fistulas involving both the duodenum and the biliary tree.

  6. Unusual Development of Iatrogenic Complex, Mixed Biliary and Duodenal Fistulas Complicating Roux-en-Y Antrectomy for Stenotic Peptic Disease of the Supraampullary Duodenum Requiring Whipple Procedure: An Uncommon Clinical Dilemma

    Directory of Open Access Journals (Sweden)

    Francesco A. Polistina

    2010-10-01

    Full Text Available Complex fistulas of the duodenum and biliary tree are severe complications of gastric surgery. The association of duodenal and major biliary fistulas occurs rarely and is a major challenge for treatment. They may occur during virtually any kind of operation, but they are more frequent in cases complicated by the presence of difficult duodenal ulcers or cancer, with a mortality rate of up to 35%. Options for treatment are many and range from simple drainage to extended resections and difficult reconstructions. Conservative treatment is the choice for well-drained fistulas, but some cases require reoperation. Very little is known about reoperation techniques and technical selection of the right patients. We present the case of a complex iatrogenic duodenal and biliary fistula. A 42-year-old Caucasian man with a diagnosis of postoperative peritonitis had been operated on 3 days earlier; an antrectomy with a Roux-en-Y reconstruction for stenotic peptic disease was performed. Conservative treatment was attempted with mixed results. Two more operations were required to achieve a definitive resolution of the fistula and related local complications. The decision was made to perform a pancreatoduodenectomy with subsequent reconstruction on a double jejunal loop. The patient did well and was discharged on postoperative day 17. In our experience pancreaticoduodenectomy may be an effective treatment of refractory and complex iatrogenic fistulas involving both the duodenum and the biliary tree.

  7. Rickettsial diseases in Haryana: not an uncommon entity.

    Science.gov (United States)

    Chaudhry, D; Garg, A; Singh, I; Tandon, C; Saini, R

    2009-04-01

    Rickettsioses have not been reported from the plains of North India and Haryana in particular. Here we are reporting three cases of scrub typhus and one cases of Indian tick typhus in the state of Haryana, all of which presented with fever and multi organ dysfunction, rash and without eschar. All were successfully treated with doxycycline.

  8. Calf enlargement associated with neurologic disease: two uncommon cases.

    Science.gov (United States)

    Harwood, S C; Honet, J C

    1988-01-01

    Muscle enlargement and hypertrophy are rare findings in neurogenic lesions. The two in combination have been reported in cases of peripheral nerve lesions, polyneuropathy, and poliomyelitis. True and pseudo muscle hypertrophy are the two possible etiologies, whereas infiltration, stretch, or exercise of the muscle are the causative factors. We report two cases of unilateral calf enlargement, one occurring after surgery for S1 radiculopathy with associated cramping, and the other after poliomyelitis.

  9. Superior Mesenteric Artery Syndrome: An Uncommon Cause of ...

    African Journals Online (AJOL)

    comprehensive series of 75 patients.[1] SMA syndrome is a ... Patient had history of weight loss of about ten kilogram in the ... had past history for appendicular perforation 3 years back for ... Uncommon Cause of Abdominal Pain Mimicking.

  10. Uncommon presentation of actinomycosis mimicking colonic cancer: Colon actinomycosis with invasion of the abdominal wall

    Directory of Open Access Journals (Sweden)

    Ilhan Bali

    2015-04-01

    Full Text Available Actinomycosis is an uncommon chronic suppurative infectious disease that is caused by Actinomycetes organisms, which are gram-positive, microaerophilic, anaerobic bacteria. Herein, we present the case of a 42-year-old female patient who underwent surgical exploration following presentation with abdominal pain and an abdominal mass, initially thought to be a malignancy. Histological examination of the specimen revealed colon actinomycosis. [Arch Clin Exp Surg 2015; 4(2.000: 107-110

  11. Anal canal plasmacytoma - An uncommon presentation site

    International Nuclear Information System (INIS)

    Antunes, M. I.; Bujor, L.; Grillo, I. M.

    2011-01-01

    Background: Extramedullary plasmacytomas (EMP) are rare plasma cell tumors that arise outside the bone marrow. They are most often located in the head and neck region, but may also occur in the other locations. The lower gastrointestinal EMP represents less than 5% of all cases, and location in the anal canal is exceedingly rare. Aim: We present an exceedingly rare case of anal canal plasmacytoma, aiming to achieve a better understanding of this rare entity. Methods: We report a case of a 61-year-old man with a bulky mass in the anal canal. The lesion measured about 6 cm and invaded in all layers of the anal canal wall. The biopsy was performed and revealed a round and plasmocitoid cell population with a solid growth pattern and necrosis. The tumoral cells have express CD79a and CD138 with lambda chains. There was no evidence of disease in other locations and these features were consistent with the diagnosis of an extra-osseous plasmacytoma. The patient was submitted to conformal radiotherapy 50.4 Gy total dose, 1.8 Gy per fraction. After 24 months, the patient is asymptomatic and the lesion has completely disappeared. Conclusions: EMP accounts for approximately 3% of plasma cell malignancies. The median age is about 60 years, and the majority of patients are male. The treatment of choice for extramedullary plasmacytoma is radiation therapy in a dosage of about 50 Gy. Patients should be followed-up for life with repeated bone marrow aspiration and protein studies to detect the development of multiple myeloma. (authors)

  12. Uncommon presentations of intraosseous haemophilic pseudotumor in imaging diagnosis

    International Nuclear Information System (INIS)

    Santos, Marcel Koenigkam; Polezi, Mariana Basso; Pastorello, Monica Tempest; Simao, Marcelo Novelino; Engel, Edgard Eduard; Elias Junior, Jorge; Nogueira-Barbosa, Marcello Henrique

    2009-01-01

    Objective: The present study was aimed at describing uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis. Materials and methods: Retrospective study evaluating five hemophilic pseudotumors in bones of two patients with hemophilia A. Imaging findings were consensually evaluated by two musculoskeletal radiologists. Plain radiography, computed tomography and magnetic resonance imaging studies were analyzed. Results: At contrast-enhanced computed tomography images, one of the lesions on the left thigh was visualized with heterogeneously enhanced solid areas. This finding was later confirmed by anatomopathological study. Another uncommon finding was the identification of a healthy bone portion interposed between two intraosseous pseudotumors in the humerus. And, finally, a femoral pseudotumor with extension towards soft tissues and transarticular extension, and consequential tibial and patellar involvement. Conclusion: The above described imaging findings are not frequently reported in cases of intraosseous pseudotumors in hemophilic patients. It is important that radiologists be aware of these more uncommon presentations of intraosseous pseudotumors. (author)

  13. Uncommon primary hydatid cyst occupying the adrenal gland space, treated with laparoscopic surgical approach in an old patient

    Directory of Open Access Journals (Sweden)

    Aprea Giovanni

    2016-01-01

    Full Text Available Hydatid disease (HD is caused by Echinococcus Granulosus (EG, which is a larva endemic in many undeveloped areas. The most common target is the liver (59%–75%. The retroperitoneal space is considered as a rare localization. We report an uncommon case of HD located in the adrenal gland space.

  14. Healthcare-associated outbreaks due to Mucorales and other uncommon fungi.

    Science.gov (United States)

    Davoudi, Setareh; Graviss, Linda S; Kontoyiannis, Dimitrios P

    2015-07-01

    Healthcare-associated outbreaks of fungal infections, especially with uncommon and emerging fungi, have become more frequent in the past decade. Here, we reviewed the history and definition of healthcare-associated outbreaks of uncommon fungal infections and discussed the principles of investigating, containing and treatment of these outbreaks. In case of these uncommon diseases, occurrence of two or more cases in a short period is considered as an outbreak. Contaminated medical devices and hospital environment are the major sources of these outbreaks. Care must be taken to differentiate a real infection from colonization or contamination. Defining and identifying cases, describing epidemiologic feature of cases, finding and controlling the source of the outbreak, treating patients, and managing asymptomatic exposed patients are main steps for outbreak elimination. These fungal outbreaks are not only difficult to detect but also hard to treat. Early initiation of appropriate antifungal therapy is strongly associated with improved outcomes in infected patients. Choice of antifungal drugs should be made based on spectrum, pharmacodynamic and pharmacokinetic characteristics and adverse effects of available drugs. Combination antifungal therapy and surgical intervention may be also helpful in selected cases. A multidisciplinary approach and close collaboration between all key partners are necessary for successful control of fungal outbreaks. © 2015 Stichting European Society for Clinical Investigation Journal Foundation.

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

    Science.gov (United States)

    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…

  16. Recurrent Bartholin's gland abscess in pregnancy: An uncommon ...

    African Journals Online (AJOL)

    Recurrent Bartholin's gland abscess in pregnancy: An uncommon presentation. ... This case involved a 25-year old grandmultipara, who presented at a gestational age of 24 weeks with a huge vulval swelling measuring 14cm x 10cm, following failure of its resolution from self-medicated antibiotics. She had experienced ...

  17. Pylephlebitis: An Uncommon Complication of Intra-Abdominal Infection

    Directory of Open Access Journals (Sweden)

    Salim R Surani

    2011-05-01

    Full Text Available We herein present a case of pylephlebitis, which is an infective suppurative thrombosis of the portal vein. Pylephlebitis is an uncommon complication of intra-abdominal infections and carries with it significant morbidity and mortality. [West J Emerg Med. 2011;12(4:575–576.

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

    Science.gov (United States)

    Dutta, J K

    1998-10-01

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

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

    OpenAIRE

    Dutta, J. K.

    1998-01-01

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

  20. Cold Antibodies: An uncommon factor in transfusion safety in a ...

    African Journals Online (AJOL)

    Background Cold reacting antibodies with a thermal optimum at 0°C are an uncommon occurrence, and the clinical manifestations are rarely observed in the warm climate of the tropical countries of sub-Saharan Africa. Objective The objective of this presentation is to report two cases in which cold-reacting antibodies were ...

  1. An Uncommon Case of Pediatric Esthesioneuroblastoma Presenting as SIADH

    DEFF Research Database (Denmark)

    Fosbøl, Marie Øbro; Bilde, Anders; Friborg, Jeppe

    2018-01-01

    Esthesioneuroblastoma (ENB) is an uncommon neuroendocrine tumor originating from the olfactory neuroepithelium and accounts for 3-6% of all intranasal tumors [¹]. ENBs can be locally aggressive and cause invasion and destruction of surrounding structures. Histological grading and clinical stage a...

  2. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    International Nuclear Information System (INIS)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli

    2014-01-01

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

  3. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

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

  4. Human Syngamosis as an Uncommon Cause of Chronic Cough

    Directory of Open Access Journals (Sweden)

    Pulcherio, Janaína Oliveira Bentivi

    2013-09-01

    Full Text Available Introduction: Chronic cough may represent a diagnostic challenge. Chronic parasitism of upper airways is an unusual cause. Objective: To describe a case of human syngamosis as an uncommon cause of dry cough. Case Report: An endoscopic exam performed in a woman suffering of chronic cough revealed a Y-shaped worm in the larynx identified as Syngamus laryngeus. Discussion: This nematode parasitizes the upper respiratory tract of many animals including humans. The diagnosis is performed by the examination of the worm expelled by cough or by endoscopy. Endoscopic exam is easy to perform and is essential in the diagnosis of causes of chronic cough, even uncommon entities. Removal is the only efficient treatment.

  5. Novel Occurrence of Uncommon Polyamines in Higher Plants 1

    Science.gov (United States)

    Kuehn, Glenn D.; Rodriguez-Garay, Benjamin; Bagga, Suman; Phillips, Gregory C.

    1990-01-01

    Diamines and polyamines are ubiquitous components of living cells, and apparently are involved in numerous cellular and physiological processes. Certain “uncommon” polyamines have limited distribution in nature and have been associated primarily with organisms adapted to extreme environments, although the precise function of these polyamines in such organisms is unknown. This article summarizes current knowledge regarding the occurrence in higher plants of the uncommon polyamines related to and including norspermidine and norspermine. A putative biosynthetic pathway to account for the occurrences of these uncommon polyamines in higher plants is presented, with a summary of the supporting evidence indicating the existence of the requisite enzymatic activities in alfalfa, Medicago sativa L. PMID:16667862

  6. Intrahepatic ascariasis – Common parasite at an uncommon site

    Directory of Open Access Journals (Sweden)

    Udit Chauhan

    2016-08-01

    Full Text Available Bacterial infections of the biliary tree are common infections of the biliary system which frequently lead to life-threatening sepsis. Parasitic infections of the biliary tree like ascariasis are not uncommon. Most adult worms reside into the extrahepatic biliary system. Intrahepatic existence is not commonly described. Urgent recognition of the intrahepatic existence of this common parasite is of paramount importance in order to start timely treatment of this lifethreatening infection. Authors described a case of intrahepatic ascariasis in a young male who was diagnosed radiologically and thereafter managed with endoscopic retrograde cholangiopancreatography and antibiotics.

  7. Solar elastosis in its papular form: uncommon, mistakable.

    Science.gov (United States)

    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.

  8. Uncommon tumor of the bone: Intraosseous epidermoid cyst

    Directory of Open Access Journals (Sweden)

    Candemir Ceran

    2017-04-01

    Full Text Available Intraosseous epidermoid cyst is an uncommon bone tumor. The differential diagnosis of expansile, lytic lesions of the phalanges remains broad, and definitive diagnosis requires histopathological tissue analysis. Differentiation of intraosseous epidermoid cysts of the phalanx from other radiolucent lesions of the digits remains challenging, especially when classical radiographic findings are not seen. Here, we present a case of an intraosseous epidermoid cyst with atypical findings at the base of the distal phalanx of the thumb without a history of trauma. It was treated successfully without any complications. [Hand Microsurg 2017; 6(1.000: 43-46

  9. Struma Ovarii in Pregnancy: An Uncommon Cause of Hyperthyroidism.

    Science.gov (United States)

    Merza, Zayd; White, Duncan; Khanem, Noor

    2015-08-01

    A 28-year-old woman presented with weight loss and tiredness. Investigations revealed hyperthyroidism. She was commenced on treatment and later became pregnant. Her thyroid levels remained raised, and she later underwent an elective cesarean delivery and ovarian cystectomy. Only a partial cystectomy was achieved, and histopathology examination revealed struma ovarii. An isotope uptake scan ((123)I) including her pelvis revealed low uptake in the thyroid gland and an area of high uptake in her pelvis. The cyst was subsequently removed, and within days, her thyroid hormone levels dropped. This case illustrates the importance of considering uncommon causes of hyperthyroidism.

  10. European and German food legislation facing uncommon foodstuffs.

    Science.gov (United States)

    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.

  11. Pleural mesothelioma: Case-report of uncommon occupational asbestos exposure in a small furniture industry.

    Science.gov (United States)

    Oddone, Enrico; Imbriani, Marcello

    2016-01-01

    The relationship between asbestos exposure and malignant mesothelioma is no longer disputed, although it is not always easy to trace past occupational exposure. This report describes a case of uncommon asbestos exposure of a small furniture industry worker, who subsequently died of pleural malignant mesothelioma, to stress the crucial importance of a full reconstruction of the occupational history, both for legal and compensation purposes. Sarcomatoid pleural mesothelioma was diagnosed in a 70-year-old man, who was previously employed as a carpenter in a small furniture industry. He worked for about 6 years in the small factory, was exposed to asbestos during the assembly of the furniture inspired by classical architecture, in which asbestos cement tubes were used to reproduce classical columns. During this production process no specific work safety measures were applied, nor masks or local aspirators. No extra-professional exposure to asbestos was identified. This mesothelioma case was investigated by the Public Prosecutor's assignment that commissioned expert evidence on the legal accountability for the disease. Despite its uncommon expositive circumstance, the length of latency (about 30 years), the duration of exposure, the clinical and histochemical features are all consistent with literature evidence, accounting for the occupational origin of this malignancy. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

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

    Science.gov (United States)

    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. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  13. Drowsiness and uncommon fever in a child after cannabis ingestion.

    Science.gov (United States)

    Feliu, Catherine; Cazaubon, Yoann; Fouley, Aurélie; Guillemin, Hélène; Millart, Hervé; Gozalo, Claire; Djerada, Zoubir

    2017-08-01

    Trivialization of cannabis consumption goes hand in hand with a growing exposure of children and the number of cannabis poisoning cases is steadily increasing. As clinical presentation can be different from what is currently seen in adults, added to the fact that it is not always suspected, diagnosis of cannabis intoxication in children is often delayed or missed. A 16-month-old girl was admitted to the pediatric emergency unit for an important drowsiness combined to moderate fever. After elimination of infectious causes, a toxic origin was considered and biological analyses led to the diagnosis of involuntary acute cannabis intoxication. In conclusion, cannabis intoxication in child has uncommon presentations compared to that seen in adults. In this context, biological analyses have a great importance for a rapid diagnosis and also for the understanding intoxication circumstance. This is of paramount importance because it may lead to consider child protection measures.

  14. Pancreaticoduodenectomy in children: optimising outcome of uncommon paediatric procedures.

    LENUS (Irish Health Repository)

    Yeap, B H

    2012-02-01

    Contemporary surgical practice is increasingly dominated by subspecialisation in response to improved outcome from high volume centres, though uncertainties persist for uncommon paediatric procedures. Three paediatric pancreaticoduodenectomies performed at Our Lady\\'s Children\\'s Hospital, Dublin, over a period of 9 years were evaluated to substantiate their continuing performance by paediatric rather than adult pancreatic surgeons. With ages ranging from 18 months to 8 years old, the mean operating time was 263 minutes, while the average hospital stay was 12 days. There was no perioperative mortality, although complication rate was 100%. Re-operation was required in 33%. The long term outcome of this small paediatric cohort was comparable to adult series despite the low patient accrual, underscoring the advantages of a multidisciplinary approach afforded by tertiary paediatric institutions for intricate yet infrequent operations in children.

  15. A Case of Empyema necessitans: An uncommon presentation of Empyema

    Directory of Open Access Journals (Sweden)

    Sushanta Bhanja

    2017-07-01

    Full Text Available ABSTRACTIntroductionEmpyema is an accumulation of pus in the pleural space. Empyema necessitans occurs when pus extends through the parietal pleura into the surrounding tissues.Case ReportWe present here a 4 month old babywith severe respiratory distress and anassociated huge boggy swelling over the left side of his chest and back. Evaluation revealed pus accumulated in the pleural space which extended to the subcutaneous tissue; a case of empyema necessitans an uncommon occurrence with empyema. Early intercostal drain(ICD insertion helped to save the baby.ConclusionEmpyema can sometimes extend beyond the pleural space into the surrounding tissue leading to empyema necessitans. Early and prompt intervention is necessary which could significantly reduce morbidity and mortality.

  16. Colopancreatic Fistula: An Uncommon Complication of Recurrent Acute Pancreatitis

    Directory of Open Access Journals (Sweden)

    Mouhanna Abu Ghanimeh

    2018-01-01

    Full Text Available Colonic complications, including colopancreatic fistulas (CPFs, are uncommon after acute and chronic pancreatitis. However, they have been reported and are serious. CPFs are less likely to close spontaneously and are associated with a higher risk of complications. Therefore, more definitive treatment is required that includes surgical and endoscopic options. We present a case of a 62-year-old male patient with a history of heavy alcohol intake and recurrent acute pancreatitis who presented with a 6-month history of watery diarrhea and abdominal pain. His abdominal imaging showed a possible connection between the colon and the pancreas. A further multidisciplinary workup by the gastroenterology and surgery teams, including endoscopic ultrasound, endoscopic retrograde cholangiopancreatography, and colonoscopy, resulted in a diagnosis of CPF. A distal pancreatectomy and left hemicolectomy were performed, and the diagnosis of CPF was confirmed intraoperatively. The patient showed improvement afterward.

  17. Perforated Duodenal Ulcer in a Young Child: An Uncommon Condition

    Directory of Open Access Journals (Sweden)

    Rohit Prasad Yadav

    2009-04-01

    Full Text Available Duodenal ulcer is an uncommonly diagnosed entity in children. H. pyloriinfection, blood group ‘O’ or secondary to medications like non steroidal anti-infl ammatory drugs (NSAID and corticosteroids or physiological stress in burns, head injury and mucosal ischemia are implicated as risk factors for their causation. The diagnosis is usually overlooked because of vague and variable symptoms and remote index of suspicion accounted for their low incidence in children. Undiagnosed or mistreated perforations may carry high morbidity and mortality. We report a successfully treated 41/2 year old male child who presented with features of perforation peritonitis and was incidentally found to have a perforated duodenal ulcer. Key Words: duodenal ulcer, laparotomy, perforation

  18. The structure of common and uncommon mental disorders.

    Science.gov (United States)

    Forbush, K T; Watson, D

    2013-01-01

    Co-morbidity patterns in epidemiological studies of mental illness consistently demonstrate that a latent internalizing factor accounts for co-morbidity patterns among unipolar mood and anxiety disorders, whereas a latent externalizing factor underlies the covariation of substance-use disorders and antisocial behaviors. However, this structure needs to be extended to include a broader range of disorders. Exploratory and confirmatory factor analyses were used to examine the structure of co-morbidity using data from the Collaborative Psychiatric Epidemiological Surveys (n = 16 233). In the best-fitting model, eating and bipolar disorders formed subfactors within internalizing, impulse control disorders were indicators of externalizing, and factor-analytically derived personality disorder scales split between internalizing and externalizing. This was the first large-scale nationally representative study that has included uncommon mental disorders with sufficient power to examine their fit within a structural model of psychopathology. The results of this study have important implications for conceptualizing myriad mental disorders.

  19. Recognizing Uncommon Presentations of Psychogenic (Functional Movement Disorders

    Directory of Open Access Journals (Sweden)

    José Fidel Baizabal-Carvallo

    2015-01-01

    Full Text Available 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.

  20. Jaundice and life-threatening hemobilia: an uncommon presentation of choledochal cyst.

    Science.gov (United States)

    Koh, Peng Soon; Yoong, Boon Koon; Vijayananthan, Anushya; Nawawi, Ouzreiah; Mahadeva, Sanjiv

    2013-08-01

    Hemobilia with jaundice as a result of cholestasis and bleeding from choledochal cyst is uncommon. Ascertaining the diagnosis is often challenging and delayed diagnosis can lead to significant consequences due to hemodynamic instability, particularly in elderly patients. Although surgery remains the definitive treatment modality, interventional radiology for hemostasis has been increasingly recognized as an option. In this manuscript, we described two Malaysian cases of jaundice and hemobilia associated with choledochal cysts and the challenges related with clinical diagnosis and management. © 2013 The Authors. Journal of Digestive Diseases © 2013 Wiley Publishing Asia Pty Ltd and Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine.

  1. Childhood Xantho granulomatous Pyelonephritis; an Uncommon Entity; Pielonefritis xantogranulomatorsa en la infancia: una entidad rara

    Energy Technology Data Exchange (ETDEWEB)

    Bravo-Bravo, C.; Martinez-Leon, M. I.; Ceres-Ruiz, L.; Weil-Lara, B. [Hospital Materno-Infantil CHU Carlos Haya. Malaga (Spain)

    2003-07-01

    Xanthogranulomotous pyelonephritis is an uncommon chronic inflammatory illness characterized by the replacement of renal parenchyma with a cellular infiltration of lipid-laden macrophages. There are few cases in the literature which describe the disease in children. Its pathogenesis remains unknown, although in up to 76% of cases it has been related to lithiasic obstruction of the pyeloureteral junction. Escherichia coli and Proteus mirabilis are most often cited as being the causing bacteria. Since neither its clinical characteristics nor radiological manifestations are specific, it is frequently infra diagnosed, Its definitive diagnosis is anatomophatological, and it is treated by nephrectomy. We present the case of a child with poorly evolving pyonephrosis diagnosed after the anatomopathological study of a renal sample. Special not is made of the importance of performing a preoperative diagnosis, and including such in a differential diagnosis with slowly evolving infectious/obstructive processes. (Author) 11 refs.

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

    Science.gov (United States)

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

    2015-04-01

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

  3. Hoverboards: spectrum of injury and association with an uncommon fracture

    Energy Technology Data Exchange (ETDEWEB)

    Schapiro, Andrew H.; Lall, Neil U.; Anton, Christopher G.; Trout, Andrew T. [Cincinnati Children' s Hospital Medical Center, Department of Radiology and Medical Imaging, Cincinnati, OH (United States)

    2017-04-15

    Self-balancing electric scooters, commonly known as hoverboards, are a new and popular consumer item with recognized fall hazards. The spectrum of injuries associated with hoverboard use has not been studied. The purpose of this study is to determine the spectrum of radiologically apparent injuries associated with hoverboard use. We retrospectively reviewed all imaging studies interpreted at our institution for hoverboard-related injuries during an 8-month period. We recorded patient demographics and injury characteristics. Thirty-two of the 47 pediatric patients imaged for hoverboard-related injury had radiologically detectable injuries, all fractures. Fifty percent of these 32 patients were female and 50% were male, with a mean age of 12.4 years. There were 42 fractures total, all involving the appendicular skeleton, with 74% in the upper extremities and 26% in the lower extremities. Thirty-eight percent of the fractures involved the physis. A distinct injury pattern was seen in three patients who sustained open distal phalanx juxta-epiphyseal fractures. Most of the fractures sustained during hoverboard use are commonly seen in everyday pediatric radiology practice, with an overall pattern paralleling that reported in association with skateboard use. However an otherwise uncommon fracture, the distal phalanx juxta-epiphyseal fracture, was identified in association with hoverboard use, and this finding has important treatment implications including need for irrigation and debridement, antibiotic therapy, and potential surgical fixation. (orig.)

  4. DYSPHONIA AS AN UNCOMMON PRESENTATION OF PONTOCEREBELLAR CHOROID PLEXUS PAPILLOMA.

    Science.gov (United States)

    Rotim, Krešimir; Sajko, Tomislav; Zmajević, Marina; Šumonja, Ilijana; Grgić, Marko

    2015-06-01

    A case is presented of a patient with dysphonia, hearing loss and ataxia due to vestibulocochlear and vagal nerve compression by choroid plexus papilloma in the cerebellopontine angle. Choroid plexus papillomas are rare tumors usually arising in the lateral and fourth ventricle, and rarely found in the cerebellopontine angle, making the neuroimaging characteristics usually not sufficient for diagnosis. Patients usually present with headache and hydrocephalus but tumors in the cerebellopontine angle can cause vestibulocochlear dysfunction and cerebellar symptoms. Dysphonia along with hearing loss was a dominant symptom in the case presented. After complete surgical removal of the tumor, deterioration of dysphonia was noticed; it could be explained as peripheral vagal nerve neuropathy due to tumor compression and intraoperative manipulation. In this case report, we describe dysphonia as an uncommon presentation of a rare posterior fossa tumor. To our knowledge, a case of choroid plexus papilloma presenting with dysphonia has not been described before. Our case extends the differential diagnosis of dysphonia from the otorhinolaryngological to the neurosurgical field.

  5. Hoverboards: spectrum of injury and association with an uncommon fracture

    International Nuclear Information System (INIS)

    Schapiro, Andrew H.; Lall, Neil U.; Anton, Christopher G.; Trout, Andrew T.

    2017-01-01

    Self-balancing electric scooters, commonly known as hoverboards, are a new and popular consumer item with recognized fall hazards. The spectrum of injuries associated with hoverboard use has not been studied. The purpose of this study is to determine the spectrum of radiologically apparent injuries associated with hoverboard use. We retrospectively reviewed all imaging studies interpreted at our institution for hoverboard-related injuries during an 8-month period. We recorded patient demographics and injury characteristics. Thirty-two of the 47 pediatric patients imaged for hoverboard-related injury had radiologically detectable injuries, all fractures. Fifty percent of these 32 patients were female and 50% were male, with a mean age of 12.4 years. There were 42 fractures total, all involving the appendicular skeleton, with 74% in the upper extremities and 26% in the lower extremities. Thirty-eight percent of the fractures involved the physis. A distinct injury pattern was seen in three patients who sustained open distal phalanx juxta-epiphyseal fractures. Most of the fractures sustained during hoverboard use are commonly seen in everyday pediatric radiology practice, with an overall pattern paralleling that reported in association with skateboard use. However an otherwise uncommon fracture, the distal phalanx juxta-epiphyseal fracture, was identified in association with hoverboard use, and this finding has important treatment implications including need for irrigation and debridement, antibiotic therapy, and potential surgical fixation. (orig.)

  6. Hydrothermal synthesis of magnetite particles with uncommon crystal facets

    Directory of Open Access Journals (Sweden)

    Junki Sato

    2014-09-01

    Full Text Available Hydrothermal synthesis of Fe3O4 (magnetite particles was carried out using organic compounds as morphology control agents to obtain magnetite crystals with uncommon facets. It was established that the morphology of Fe3O4 crystals obtained by hydrothermal treatment of an aqueous solution containing Fe2+ and organic compounds depended on the organic compound used. The shape of the Fe3O4 particles obtained when no additives were used was quasi-octahedral. In contrast, the addition of picolinic acid, citric acid or pyridine resulted in the formation of polyhedral crystals, indicating the presence of not only {1 1 1}, {1 0 0} and {1 1 0} facets but also high-index facets including at least {3 1 1} and {3 3 1}. When citric acid was used as an additive, octahedral crystals with {1 1 1} facets also appeared, and their size decreased as the amount of citric acid was increased. Thus, control of Fe3O4 particle morphology was achieved by a simple hydrothermal treatment using additives.

  7. Ewing’s sarcoma: an uncommon breast tumor

    Directory of Open Access Journals (Sweden)

    Sawsen Meddeb

    2014-10-01

    Full Text Available Ewing’s sarcoma/primitive neuroectodermal tumors (EWS/PNET are rare malignant and aggressive tumors, usually seen in the trunk and lower limbs of children and young adults. They are uncommon in the breast. We report a case of a 43-year-old woman who developed a painless breast mass. An initial core needle biopsy concluded to a fibrocystic dystrophy contrasting with a rapidly growing mass; thus a large lumpectomy was done. Diagnosis of primary PNET of the breast was established, based on both histopathological examination and immunohistochemical findings. Surgical margins were positive, therefore, left modified radical mastectomy with axillary lymph nodes dissection was performed. The patient was given 6 cycles of adjuvant chemotherapy containing cyclophosphamide, adriamycin and vincristine. Twenty months later, she is in life without recurrence or metastasis. EWS/PNET may impose a diagnostic challenge. Indeed, mammography and ultrasonography features are non specific. The histopathological pattern is variable depending on the degree of neuroectodermal differentiation. Immuno-phenotyping is necessary and genetic study is the only confirmatory tool of diagnosis showing a characteristic cytogenetic anomaly; t (11; 22 translocation.

  8. Thoracolumbar fracture with listhesis - an uncommon manifestation of child abuse

    International Nuclear Information System (INIS)

    Levin, Terry L.; Blitman, Netta M.; Berdon, Walter E.; Cassell, Ian

    2003-01-01

    Thoracolumbar fracture with listhesis (FL) is an uncommon manifestation of child abuse (increasingly known as nonaccidental trauma), with only six prior reports in the literature. This article seeks to call attention to FL of the thoracolumbar spine in abused children and infants. We reviewed plain films, CT and MR images in seven new cases of FL of the thoracolumbar spine in abused children ages 6 months to 7 years, two of whom became paraplegic from their injuries. Findings varied from subtle listhesis of one vertebra on another to frank vertebral dislocation, most commonly at L1/2. Paravertebral calcification was present in all but one case. In two children, thoracolumbar FL was the only radiographic sign of abuse. Radiographic findings of FL of the thoracolumbar spine may be subtle and may be erroneously interpreted as due to a congenital or neoplastic cause. While other signs of child abuse should be sought, spinal injury may be the sole sign of abuse. Recognition of this entity is important to pursue the diagnosis of abuse. (orig.)

  9. Thoracolumbar fracture with listhesis - an uncommon manifestation of child abuse

    Energy Technology Data Exchange (ETDEWEB)

    Levin, Terry L.; Blitman, Netta M. [Department of Radiology, Montefiore Medical Center, 111 E. 210th Street, Bronx, New York, NY 10467-2490 (United States); Berdon, Walter E. [Department of Radiology, Babies Hospital, New York Presbyterian Hospital, New York (United States); Cassell, Ian [Department of Radiology, Phoenix Children' s Hospital, Phoenix, AZ (United States)

    2003-05-01

    Thoracolumbar fracture with listhesis (FL) is an uncommon manifestation of child abuse (increasingly known as nonaccidental trauma), with only six prior reports in the literature. This article seeks to call attention to FL of the thoracolumbar spine in abused children and infants. We reviewed plain films, CT and MR images in seven new cases of FL of the thoracolumbar spine in abused children ages 6 months to 7 years, two of whom became paraplegic from their injuries. Findings varied from subtle listhesis of one vertebra on another to frank vertebral dislocation, most commonly at L1/2. Paravertebral calcification was present in all but one case. In two children, thoracolumbar FL was the only radiographic sign of abuse. Radiographic findings of FL of the thoracolumbar spine may be subtle and may be erroneously interpreted as due to a congenital or neoplastic cause. While other signs of child abuse should be sought, spinal injury may be the sole sign of abuse. Recognition of this entity is important to pursue the diagnosis of abuse. (orig.)

  10. Alopecia neoplastica: An uncommon presentation of metastatic breast carcinoma

    Directory of Open Access Journals (Sweden)

    Felipe Ladeira de Oliveira

    2016-12-01

    Full Text Available Cutaneous metastasis may correspond to the initial clinical presentation of hidden internal malignancies. In patients presenting said neoplasia, clinical manifestations of breast cancer reaches 23.9%. Considering that neoplastic alopecia appears as an unusual pattern of the said metastasis, this report describes a case of such uncommon neoplastic alopecia which presents itself as a cutaneous metastasis of rapid progression in a patient with prior breast cancer history. We present a 47-year-old female patient reporting lesions at the scalp, and who was asymptomatic with a 1-year evolution. The patient reported prior breast cancer history and presence of lung metastasis, and was undergoing chemotherapy at the time of consultation. A dermatological evaluation showed only a nodular lesion with erythematous surface and a diameter measuring about 4 cm, firm in consistency, and immovable. She was routed to the Department of Dermatological Surgery, and the results from histopathology were consistent with a diagnosis of metastatic breast adenocarcinoma. Neoplastic alopecia appears as an unusual form of cutaneous metastasis which is predominantly described in association with breast cancer. The lesion’s clinical features play a crucial role at the differential diagnosis, as the presence of erythema could distinguish neoplastic alopecia from alopecia areata. The existence of cutaneous metastasis leads to unfavorable outcomes. As a conclusion, cutaneous evaluation of patients is essential for treating visceral metastases, since the forms of cutaneous metastasis are diverse and can also affect the scalp.

  11. Chronic hypopituitarism is uncommon in survivors of aneurysmal subarachnoid haemorrhage.

    Science.gov (United States)

    Hannon, M J; Behan, L A; O'Brien, M M; Tormey, W; Javadpour, M; Sherlock, M; Thompson, C J

    2015-01-01

    The incidence of hypopituitarism after aneurysmal subarachnoid haemorrhage (SAH) is unclear from the conflicting reports in the literature. As routine neuroendocrine screening for hypopituitarism for all patients would be costly and logistically difficult, there is a need for precise data on the frequency of hypopituitarism and on factors which might predict the later development of pituitary dysfunction. We aimed to: (i) Establish the incidence of long-term hypopituitarism in patients with aneurysmal SAH. (ii) Determine whether data from patients' acute admission with SAH could predict the occurrence of long-term hypopituitarism. One hundred patients were studied prospectively from the time of presentation with acute SAH. Plasma cortisol, plasma sodium and a variety of clinical and haemodynamic parameters were sequentially measured for the first 12 days of their acute admission. Forty-one patients then underwent dynamic pituitary testing at median 15 months following SAH (range 7-30 months), with insulin tolerance test (ITT) or, if contraindicated, a glucagon stimulation test (GST) plus short synacthen test (SST). If symptoms of cranial diabetes insipidus (CDI) were present, a water deprivation test was also performed. Forty-one patients attended for follow-up dynamic pituitary testing. Although 14 of 100 had acute glucocorticoid deficiency immediately following SAH, only two of 41 had long-term adrenocorticotrophic hormone (ACTH) deficiency and four of 41 had growth hormone (GH) deficiency. None were hypothyroid or gonadotrophin deficient. None had chronic CDI or hyponatraemia. There was no association between acute glucocorticoid deficiency, acute CDI or acute hyponatraemia and long-term pituitary dysfunction. Both anterior and posterior hypopituitarism are very uncommon following SAH and are not predicted by acute clinical, haemodynamic or endocrinological parameters. Routine neuroendocrine screening is not justified in SAH patients. © 2014 John Wiley & Sons

  12. A tumefactive multiple sclerosis lesion in the brain: An uncommon site with atypical magnetic resonance image findings

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Min Sun; Kim, Hyun Sook; Kim, Jae Hoon; Kim, Eun Kyung; Choi, Yun Sun [Eulji Hospital, Eulji University, Seoul (Korea, Republic of)

    2013-11-15

    Tumefactive multiple sclerosis (MS) is a rare type of demyelinating disease. Typical magnetic resonance (MR) image findings show incomplete ring enhancement with a mild mass effect. This lesion is otherwise indistinguishable from other mass-like lesions in the brain. Knowledge of the MR imaging findings for tumefactive MS is thus helpful for correct diagnosis and appropriate therapy. In this report we describe the MR image findings for pathology-confirmed tumefactive MS in an uncommon location, alongside a discussion of its aggressive features.

  13. Appendiceal hemorrhage – An uncommon cause of lower gastrointestinal bleeding

    Directory of Open Access Journals (Sweden)

    Ching-Chung Chiang

    2011-06-01

    Full Text Available Lower gastrointestinal bleeding is a common disease among elderly patients. The common sources of lower gastrointestinal bleeding include vascular disease, Crohn’s disease, neoplasms, inflammatory bowel disease, hemorrhoids, and ischemic colitis. Lower gastrointestinal bleeding arising from the appendix is an extremely rare condition. We report a case of appendiceal hemorrhage in a young male. Diagnosis was made by multidetector computerized tomography during survey for hematochezia. The patient recovered well after appendectomy. The histological finding revealed focal erosion of appendix mucosa with bleeding.

  14. Dislocation of temporo-mandibular joint - an uncommon circumstance of occurrence: vaginal delivery.

    Science.gov (United States)

    El Bouazzaoui, Abderrahim; Labib, Smael; Derkaoui, Ali; Adnane Berdai, Mohammed; Bendadi, Azzeddine; Harandou, Mustapha

    2010-06-25

    Dislocation of temporo-mandibular joint (TMJ) is an infrequent disease but still spectacular. This disease consists of a permanent, to some extent complete disruption of the temporo-mandibular joint. These dislocations often occur in a context of yawning, and less frequently after a burst of laughing or relatively mild facial trauma (slap, punch on the chin). We report a case of TMJ occurring in an uncommon circumstance: vaginal delivery. A woman aged 24-years with no special past medical history; primipara was admitted in the Department of Maternity of the University Hospital Hassan II of Fez for an imminent delivery of a twin pregnancy. Ten minutes after admission, the patient delivered vaginally with episiotomy. She gave birth to twins weighing 2800 g and 2400 g. During labour, and due to efforts of crying, the patient developed a sudden and immediate loss of function of the temporo-mandibular joint, with difficulty of speaking, the mouth permanently opened and with the chin lowered and thrown forward. The examination found an empty glenoid fossa of the temporo-mandibular joint in both sides. The diagnosis of dislocation of the TMJ was established. A CT scan of facial bones was done, objectifying a bilateral dislocation of TMJ. The reduction of this dislocation was performed in the operating room under sedation.

  15. Dislocation of temporo-mandibular joint - an uncommon circumstance of occurrence: vaginal delivery

    Directory of Open Access Journals (Sweden)

    Abderrahim El Bouazzaoui

    2010-06-01

    Full Text Available Dislocation of temporo-mandibular joint (TMJ is an infrequent disease but still almost spectacular. This disease consists of a permanent, to some extent complete disruption of the temporo-mandibular joint. These dislocations often occurs in a context of yawning, and less frequently after a burst of laughing or relatively mild facial trauma (slap, punch on the chin.We report a case of TMJ occurring in an uncommon circumstance : vaginal delivery. A young woman aged 24-years with no special past medical history; primipara was admitted in the Department of Maternity of the University Hospital Hassan II of Fez for an imminent delivery of a twin pregnancy. Obstetrical analgesia was not possible so the parturient cried in a strong manner during labour. Ten minutes after admission, the patient delivered vaginally with episiotomy. She gave birth to twins weighing 2800g and 2400g. During labour, and effort of crying, the patient presented a sudden and immediate loss of function of the temporo-mandibular joint, with difficulty of speaking, the mouth permanently opened, with the chin lowered and thrown forward. The examination found an emptiness of the glenoid fossa of the temporo-mandibular joint in both sides. The diagnosis of dislocation of the TMJ has established. Performance of special radiologic screening to study the TM was technically not possible. A CT scan of facial bones has been achieved so objectifying a bilateral dislocation of TMJ. The reduction of this dislocation was performed in the operating room under sedation

  16. Cancer Risk in Astronauts: A Constellation of Uncommon Consequences

    Science.gov (United States)

    Milder, Caitlin M.; Elgart, S. Robin; Chappell, Lori; Charvat, Jaqueline M.; Van Baalen, Mary; Huff, Janice L.; Semones, Edward J.

    2017-01-01

    Excess cancers resulting from external radiation exposures have been noted since the early 1950s, when a rise in leukemia rates was first reported in young atomic bomb survivors [1]. Further studies in atomic bomb survivors, cancer patients treated with radiotherapy, and nuclear power plant workers have confirmed that radiation exposure increases the risk of not only leukemia, but also a wide array of solid cancers [2,3]. NASA has long been aware of this risk and limits astronauts' risk of exposure-induced death (REID) from cancer by specifying permissible mission durations (PMD) for astronauts on an individual basis. While cancer is present among astronauts, current data does not suggest any excess of known radiation-induced cancers relative to a comparable population of U.S. adults; however, very uncommon cancers have been diagnosed in astronauts including nasopharyngeal cancer, lymphoma of the brain, and acral myxoinflammatory fibroblastic sarcoma. In order to study cancer risk in astronauts, a number of obstacles must be overcome. Firstly, several factors make the astronaut cohort considerably different from the cohorts that have previously been studied for effects resulting from radiation exposure. The high rate of accidents and the much healthier lifestyle of astronauts compared to the U.S. population make finding a suitable comparison population a problematic task. Space radiation differs substantially from terrestrial radiation exposures studied in the past; therefore, analyses of galactic cosmic radiation (GCR) in animal models must be conducted and correctly applied to the human experience. Secondly, a large enough population of exposed astronauts must exist in order to obtain the data necessary to see any potential statistically significant differences between the astronauts and the control population. Thirdly, confounders and effect modifiers, such as smoking, diet, and other space stressors, must be correctly identified and controlled for in those

  17. Uncommon manifestations of scrub typhus encephalitis in two cases: Clinical and magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Heo, Young Jin; Jeong, Hae Woong [Dept. of Radiology, Inje University Busan Paik Hospital, Busan (Korea, Republic of)

    2015-11-15

    Scrub typhus is a well-known acute febrile illness caused by Orientia tsutsugamushi. This disease has multiorgan involvement, which includes the lungs, heart, liver, spleen, and the central or peripheral nervous system. Scrub typhus involving the central nervous system (CNS) is not rare. However, meningitis and meningoencephalitis can cause changes in mentation and death and are therefore associated with a poor prognosis. We report two consecutive cases of scrub typhus with CNS involvement. One patient presented with extensive white matter involvement, similar to that observed in acute disseminated encephalomyelitis, whereas the other patient presented with subependymal enhancement along the lateral ventricles. To the best of our knowledge, scrub typhus encephalitis, with extensive white matter involvement and subependymal enhancement, are very rarely described findings in the previous literature. Our patients did not show complete recovery, but the symptoms resolved with treatment. Recognizing these uncommon radiologic findings of scrub typhus may be helpful in the early diagnosis of scrub typhus with CNS involvement, which may alter the prognoses of patients.

  18. Uncommon manifestations of scrub typhus encephalitis in two cases: Clinical and magnetic resonance imaging findings

    International Nuclear Information System (INIS)

    Heo, Young Jin; Jeong, Hae Woong

    2015-01-01

    Scrub typhus is a well-known acute febrile illness caused by Orientia tsutsugamushi. This disease has multiorgan involvement, which includes the lungs, heart, liver, spleen, and the central or peripheral nervous system. Scrub typhus involving the central nervous system (CNS) is not rare. However, meningitis and meningoencephalitis can cause changes in mentation and death and are therefore associated with a poor prognosis. We report two consecutive cases of scrub typhus with CNS involvement. One patient presented with extensive white matter involvement, similar to that observed in acute disseminated encephalomyelitis, whereas the other patient presented with subependymal enhancement along the lateral ventricles. To the best of our knowledge, scrub typhus encephalitis, with extensive white matter involvement and subependymal enhancement, are very rarely described findings in the previous literature. Our patients did not show complete recovery, but the symptoms resolved with treatment. Recognizing these uncommon radiologic findings of scrub typhus may be helpful in the early diagnosis of scrub typhus with CNS involvement, which may alter the prognoses of patients

  19. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience

    Directory of Open Access Journals (Sweden)

    Fransisca J. Siahaya

    2013-01-01

    Full Text Available Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.

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

    Directory of Open Access Journals (Sweden)

    Rajesh Jain

    2012-01-01

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

  1. Pericardial Effusion due to Primary Malignant Pericardial Mesothelioma: A Common Finding but an Uncommon Cause

    Directory of Open Access Journals (Sweden)

    Valery Istomin

    2016-01-01

    Full Text Available This case report describes a 37-year-old female who was admitted to our Emergency Department because of shortness of breath. On physical examination, she had dyspnea and tachycardia and blood pressure was 80/50 mmHg with a pulsus paradoxus of 22 mmHg. Neck veins were distended, heart sounds were distant, and dullness was found on both lung bases. Her chest X-ray revealed bilateral pleural effusion and cardiomegaly. On both computed tomography and echocardiography the heart was of normal size and a large pericardial effusion was noted. The echocardiogram showed signs of impending tamponade, so the patient underwent an emergent pericardiocentesis. No infectious etiology was found and she was assumed to have viral pericarditis and was treated accordingly. However, when the pericardial effusion recurred and empirical therapy for tuberculosis failed, a pericardial window was performed. A typical staining pattern for mesothelioma was found on her pericardial biopsy specimen. Since no other mesodermal tissue was affected, a diagnosis of primary malignant pericardial mesothelioma was made. Chemotherapy was not effective and she passed away a year after the diagnosis was made. This case highlights the difficulties in diagnosing this uncommon disease in patients that present with the common finding of pericardial effusion.

  2. An uncommon cause of dysphagia in pediatric age

    Directory of Open Access Journals (Sweden)

    Joana Aquino

    2014-09-01

    Comments: Achalasia is a rare disease associated with a challenging and delayed diagnosis. The normality of the upper digestive endoscopy and the hypothesis of an eating behavior disorder both led to a delayed diagnosis. It is important to proceed with investigation in the presence of unremitting dysphagia symptoms.

  3. Cryptococcal laryngitis: An uncommon presentation of a common ...

    African Journals Online (AJOL)

    laryngoscopy and biopsy of the vocal fold lesions. The clinical findings were confirmed in theatre, and no further abnormalities were detected. Histological examination of the tissue biopsies showed multiple fungal spores, with thick capsules, in the submucosa (Figs 1 - 3). There was no evidence of granulomatous disease or ...

  4. Mental Representation of Fractions: It All Depends on Whether They Are Common or Uncommon.

    Science.gov (United States)

    Liu, Fuchang

    2017-08-13

    This study examined whether common and uncommon fractions are mentally represented differently and whether common ones are used in accessing the magnitudes of uncommon ones. In Experiments 1 and 2, college education majors, most of whom were female, Caucasian, and in their early 20s, made comparisons involving common and uncommon fractions. In Experiment 3, participants were presented with comparison tasks involving uncommon fractions and asked to describe the strategies which they used in making such comparisons. Analysis of reaction times and error rates support the hypothesis that for common fractions, it is their holistic real value, rather than their individual components, that gets represented. For uncommon fractions, the access of their magnitudes is a process of retrieving and using a known common one having a similar value. Such results suggest that the development of the cognizance of the magnitudes of fractions may be principally a matter of common ones only and that learners' handling of uncommon fractions may be greatly facilitated through instructions on matching them with common ones having a similar value.

  5. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

    Directory of Open Access Journals (Sweden)

    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  6. Idiopathic chronic calcific pancreatitis in a child: An uncommon entity

    OpenAIRE

    Aggarwal, Simmi; Garg, Ravinder; Bansal, Pankaj

    2013-01-01

    Inflammatory disease of pancreas can be acute or chronic. Acute pancreatitis is a reversible process whereas chronic pancreatitis produces irreversible changes in the architecture and function of pancreas. Although pancreatitis is less common in children than in adults it still occurs with regularity and should be considered in any child with acute or chronic abdominal pain. The main difference between chronic pancreatitis in children and adults is in the etiology. We present a case of idiopa...

  7. Sciatic nerve tumor and tumor-like lesions - uncommon pathologies

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, Vibhor; Thakkar, Rashmi S.; Carrino, John A.; Chhabra, Avneesh [Johns Hopkins University School of Medicine, Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Maragakis, Nicholas; Hoeke, Ahmet; Sumner, Charlotte J.; Lloyd, Thomas E. [Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD (United States); Belzberg, Allan J. [Johns Hopkins University School of Medicine, Department of Neurosurgery, Baltimore, MD (United States)

    2012-07-15

    Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. (orig.)

  8. Psychos’ Haunting Memories: A(n (Uncommon Literary Heritage

    Directory of Open Access Journals (Sweden)

    Maria Antónia Lima

    2015-07-01

    Full Text Available In our times, one of the most prevailing forms of terror is certainly the psychological terror. In the history of literature and cinema, it’s impossible to forget some very widely known characters called psychos, especially those created by Edgar Allan Poe, Robert Bloch, Stephen King, Bret Easton Ellis, Sarah Kane and Patrick McGrath. Usually, they are haunted not only by their own private memories, but also by a literary memory that associates them to a common heritage, as if each psychotic character belonged to a very old gothic family, in which every member had been cursed to inherit the disease of his ancestors or the sins of his fathers. Haunted by images of their past, that recurrently return to the present, these psychos defy the barriers of time and all the traditional distinctions between reality and imagination, because one can never be sure if the stories are really about murders or about victims of their very diseased minds. Uncertainties and doubts disturb the reader as they also disturb the main character in search of a lost identity. Keywords: Psychos, Terror, Haunting Memories, Literary Heritage, Poe.

  9. Lupus Flare: An Uncommon Presentation of Disseminated Gonorrhea

    Directory of Open Access Journals (Sweden)

    Uyen To

    2014-01-01

    Full Text Available Gonorrhea is one of the most common sexually transmitted diseases in the US with 700,000 annual cases. Although most cases of gonorrhea are localized, approximately 0.5–3% become disseminated. Here we discuss a rare case of a patient with systemic lupus erythematosus (SLE who developed septic shock from disseminated gonorrhea infection (DGI. Our patient is a 24-year-old woman with SLE, mixed connective tissue disease with cutaneous vasculitis, and lupus nephritis who presented with several weeks of malaise and generalized body aches associated with a diffuse rash along her fingers, palms, and trunk. Infectious workup was unrevealing with the exception of a positive gonorrhea test obtained from a cervical swab. Given her symptoms of tenosynovitis, the appearance of her skin lesions, and her positive gonorrhea test, she was diagnosed with septic shock secondary to DGI. With antibiotic treatment, the patient reported a dramatic improvement of the pain in her swollen joints and her rash receded. Patients diagnosed with SLE carry an increased risk of gonorrhea regardless of whether or not they are being treated for their SLE. Although it is well-documented that SLE is associated with severe DGI, few describe it resulting in overt septic shock.

  10. Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood.

    Science.gov (United States)

    Kara, Ozlem; Demirel, Fatma; Acar, Banu Celikel; Cakar, Nilgün

    2013-01-01

    Wegener granulomatosis (WG) is a cytoplasmic antineutrophil cytoplasmic antibody (c-ANCA)-associated, multi-system, necrotizing granulomatous vasculitis. Inflammation of the nasal or oral mucosa, and lung and kidney involvements are typical in the course of the disease. In rare cases, pituitary involvement may occur and cause panhypopituitarism. Pituitary involvement is very rare, and only two pediatric case reports have been published to date out of a total of 24 cases. This is a case report of an adolescent patient who presented with panhypopituitarism symptoms and was later diagnosed with WG. A 16-year-old female patient complained of fever, headache, purulent nasal discharge and severe muscle and joint pain. Additionally, she had polyuria and polydipsia. Investigations revealed a pituitary mass and panhypopituitarism. Positivity of c-ANCA and renal biopsy result compatible with WG confirmed the diagnosis.

  11. Membranous glomerulopathy with spherules: an uncommon variant with obscure pathogenesis.

    Science.gov (United States)

    Kowalewska, Jolanta; Smith, Kelly D; Hudkins, Kelly L; Chang, Anthony; Fogo, Agnes B; Houghton, Donald; Leslie, Deena; Aitchison, John; Nicosia, Roberto F; Alpers, Charles E

    2006-06-01

    Occasional case reports of membranous glomerulopathy described unique subepithelial accumulations of an unusual type of immune deposit composed of spherular structures. The identity of such structures as nuclear pores has been suggested, but not established. We identified a cohort of patients (n = 14, including 1 patient with disease recurrence in an allograft) who presented with nephrotic syndrome and had renal biopsy specimens with light and immunofluorescence microscopic findings characteristic of membranous glomerulopathy. These patients were distinguished by ultrastructural studies that showed glomerular capillary wall accumulations of subepithelial immune deposits composed of uniform spherular structures, while lacking the typical granular electron-dense deposits seen in membranous glomerulopathy. The molecular identity of these spherular structures as nuclear pores was tested by using immunofluorescence microscopy and immunohistochemistry with mouse monoclonal antinuclear pore antibodies (Covance, Princeton, NJ) and anti-Nuclear Pore-O-Linked Glycoprotein (Affinity BioReagents Inc, Golden, CO) antibodies. Measurement of spherular structures by using high-magnification electron microscopy showed an average diameter of 84.5 nm, which correlated well with accepted diameters of nuclear pores (80 to 120 nm). Immunofluorescence microscopy and immunoperoxidase staining with both antibodies showed characteristic beaded staining of nuclear membranes of multiple cell types within normal control kidney, but no staining of immune-type deposits within glomerular basement membranes. These cases form a rare, but distinctive, morphological subclass of membranous glomerulopathy. The antigenic specificity of immune deposits in these cases remains elusive.

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

    Directory of Open Access Journals (Sweden)

    Kara M. Smith

    2015-02-01

    Full Text Available 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.

  13. A population-specific uncommon variant in GRIN3A associated with schizophrenia.

    Science.gov (United States)

    Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

    2013-03-15

    Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  14. Pulmonary tuberculosis with neuromyelitis optica: an uncommon association of a common disease

    International Nuclear Information System (INIS)

    Siddiqi, S.A.; Hashmi, M.; Azmat, Z.; Mustafa, S.; Siddiqui, K.A.

    2012-01-01

    Systemic tuberculosis has been reported with varying neurological manifestations like meningitis, tuberculomas, myositis and neuropathy. Neuromyelitis optica (NMO) is a well known neurological entity which has been described in association with several systemic disorders like systemic lupus erythematosis, diabetes mellitus, hypothyroidism, exposure to Mycobacterium tuberculosis. insecticides etc. However, only a few cases of NMO have been reported in association with Here, we report a case of pulmonary tuberculosis in association with NMO to highlight the under-reported association of NMO with pulmonary tuberculosis presenting in a peculiar anatomical fashion i.e. longitudinal myelitis with predominant posterior column involvement. (author)

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

    Science.gov (United States)

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

    2014-04-01

    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.

  16. Vaginal and (uncommon) cervical cancers in the Netherlands, 1989-2003

    NARCIS (Netherlands)

    van der Aa, Maaike A.; Helmerhorst, Th.J.M.; Siesling, Sabine; Riemersma, Sietske; Coebergh, Jan Willem W.

    2010-01-01

    Background: The clinical and prognostic evaluation of cervical and vaginal tumors other than squamous cell and adenocarcinomas is hampered by the low incidence, and clinical and epidemiological studies on these uncommon tumors are scarce. Having close affinity with the pathology laboratories, the

  17. Gorham's disease of the spine

    International Nuclear Information System (INIS)

    Livesley, P.J.; Saifuddin, A.; Webb, P.J.; Mitchell, N.; Ramani, P.

    1996-01-01

    Massive osteolysis is a rare condition and is very uncommon in the spine. The MRI appearance of Gorham's disease of the spine has not previously been reported. We present here a case of this condition with imaging details. (orig.)

  18. Dermopathy of Graves′ disease: Clinico-pathological correlation

    Directory of Open Access Journals (Sweden)

    Sagili Vijaya Bhaskar Reddy

    2012-01-01

    Full Text Available Dermopathy of Graves′ disease is a classical, but uncommon extrathyroidal manifestation of Graves′ disease. The images of a typical case of dermopathy of Graves′ disease are presented along with clinico-pathological correlation.

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

    Science.gov (United States)

    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

  20. Double Mesiodentes, Bilateral to Midline: A Report of Two Uncommon Cases

    OpenAIRE

    Avina Banari

    2013-01-01

    Background: Spontaneously erupted double mesiodentes, bilateral to midline are extremely rare and can alter both occlusion and appearance by affecting the eruption path, position, inclination and axial rotation of the maxillary permanent incisors. Case Report: Two cases of uncommon occurrence of spontaneously erupted double mesiodentes, bilateral to midline are presented here. The first case report highlights a situation where in treatment has been sought due to esthetic concerns arising,...

  1. [Uncommon non-fermenting Gram-negative rods as pathogens of lower respiratory tract infection].

    Science.gov (United States)

    Juhász, Emese; Iván, Miklós; Pongrácz, Júlia; Kristóf, Katalin

    2018-01-01

    Glucose non-fermenting Gram-negative bacteria are ubiquitous environmental organisms. Most of them are identified as opportunistic, nosocomial pathogens in patients. Uncommon species are identified accurately, mainly due to the introduction of matrix-assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF MS) in clinical microbiology practice. Most of these uncommon non-fermenting rods are isolated from lower respiratory tract samples. Their significance in lower respiratory tract infections, such as rules of their testing are not clarified yet. The aim of this study was to review the clinical microbiological features of these bacteria, especially their roles in lower respiratory tract infections and antibiotic treatment options. Lower respiratory tract samples of 3589 patients collected in a four-year period (2013-2016) were analyzed retrospectively at Semmelweis University (Budapest, Hungary). Identification of bacteria was performed by MALDI-TOF MS, the antibiotic susceptibility was tested by disk diffusion method. Stenotrophomonas maltophilia was revealed to be the second, whereas Acinetobacter baumannii the third most common non-fermenting rod in lower respiratory tract samples, behind the most common Pseudomonas aeruginosa. The total number of uncommon non-fermenting Gram-negative isolates was 742. Twenty-three percent of isolates were Achromobacter xylosoxidans. Beside Chryseobacterium, Rhizobium, Delftia, Elizabethkingia, Ralstonia and Ochrobactrum species, and few other uncommon species were identified among our isolates. The accurate identification of this species is obligatory, while most of them show intrinsic resistance to aminoglycosides. Resistance to ceftazidime, cefepime, piperacillin-tazobactam and carbapenems was frequently observed also. Ciprofloxacin, levofloxacin and trimethoprim-sulfamethoxazole were found to be the most effective antibiotic agents. Orv Hetil. 2018; 159(1): 23-30.

  2. LIPOMA OF THE HEEL: A COMMON BENIGN TUMOR OVER UNCOMMON SITE

    Directory of Open Access Journals (Sweden)

    Mirat

    2015-09-01

    Full Text Available Lipoma is a universal benign tumour which is uncommon in foot and especially in sole region. It should be considered in the differential diagnosis of foot lesions. A case of lipoma of heel of five years duration in a 48 year s old housewife is described in which FNAC was inconclusive. However findings of imaging studies suggested diagnosis of lipoma w hich was confirmed on histopathological examination of the excised mass. Literature has been reviewed emphasising rarity of site lesion.

  3. (Un)common suffering: distributional impact of recent inflation in India

    OpenAIRE

    Majumder, Rajarshi

    2010-01-01

    The recent inflation in India is special both because of its peaks as also for its persistence. While couple of years back the rising inflation was blamed on global factors, this time around there is no denying the fact that it is due to structural problems of our economy, especially those related to the agricultural, specifically the foodgrains sector. Impact of the recent inflation is also not shared equally, with the bottom strata facing uncommon difficulties, as their purchasing power see...

  4. Abnormal innominate vein and right aortic arch, an uncommon association that should be taken into account

    International Nuclear Information System (INIS)

    Catala, J.; Martin, C.

    2000-01-01

    A case of abnormal innominate vein associated with right aortic arch and aberrant left subclavian artery is presented. It was an incidental finding during the radiological study of an 8-year old boy suspected of having tuberculosis. The authors review the different etiological theories, radiological features and diagnostic impact of this uncommon venous malformation, as well as its relationship to other cardiovascular anomalies. (Author) 9 refs

  5. Corynebacterium species: an uncommon agent of peritoneal dialysis-related peritonitis and a challenging treatment

    OpenAIRE

    Ferreira, Joel; Teixeira e Costa, Fernando; Ramos, Aura

    2015-01-01

    Introduction: Corynebacterium is a component of normal skin flora and it is responsible for an increasing incidence of nosocomial infections in the last decades. Peritonitis and exit-site infections caused by this microorganism are uncommon but have a significant clinical impact due to their high relapsing rate. The ideal therapeutic approach in these situations is not yet clearly defined. Methods: Retrospective analysis of Corynebacterium spp peritonitis in a peritoneal dialysis unit between...

  6. 2-[F-18] fluoro-2-deoxy-D-glucose (FDG) positron emission tomography (PET) in uncommon malignancies

    International Nuclear Information System (INIS)

    Nair, N.; Basu, S.

    2004-01-01

    This is a retrospective study with an aim to evaluate the clinical role of FDG-PET imaging in changing the decision making process or management strategies in patients with various uncommon malignancies or in malignancies where there is paucity of literature regarding application of PET at present. The study population consisted of a wide variety of various uncommon malignancies who were mainly referred from the neighboring Tata Memorial Hospital with few cases from the outside centers. Patients were fasting at least for 6 hours. Sixty minutes after injection of 370 MBq FDG, patients were imaged on the dedicated BGO based GE Advance PET scanner (General Electric Medical systems, Milwaukee, WI). Images were reconstructed using the attenuation weighted Ordered Subsets Expectation Maximization (OSEM) algorithm. Axial, coronal, sagittal and 3D images were visually interpreted and foci of increased tracer uptake were considered as disease involvement. The findings were compared lesion by lesion with other imaging procedures regarding staging, treatment response evaluation and residual disease evaluation. The malignancies selected for retrospective analysis, along with the number of cases are presented. 2 cases of chordoma were evaluated of which one had primary in the cervicodorsal region and came for PET evaluation post surgery and RT. PET showed metastatic foci in left axillary node, body of sacrum and right lower neck region in addition to the persistence of disease in the primary. The other was a case of petroclival chordoma came for disease evaluation post surgery. The MRI was inconclusive regarding persistence of residual disease and postoperative changes. PET scan was normal in the case. In a solitary case of operated Dermato-fibrosarcoma, PET revealed a hypermetabolic focus at one end of scar, subsequently proven as scar recurrence of the primary. 3 cases of skin adenexal tumour were evaluated, all of whom were upstaged by PET and changed the subsequent

  7. Alopecia: manifestação cutânea rara de sarcoidose Alopecia: an uncommon cutaneous manifestation of sarcoidosis

    Directory of Open Access Journals (Sweden)

    Fabiane Mulinari Brenner

    2008-10-01

    Full Text Available A sarcoidose é doença granulomatosa multissistêmica que geralmente compromete o trato respiratório e os linfonodos hilares. A pele é comumente afetada, mas raramente o couro cabeludo. Dois casos de sarcoidose com lesões no couro cabeludo são relatados: o primeiro, em paciente negra apresentando áreas de alopecia no couro cabeludo associada a outras lesões cutâneas; e o segundo, em paciente branca, portadora de sarcoidose pulmonar, com alopecia como manifestação cutânea isolada. A sarcoidose de couro cabeludo merece especial atenção, pois nos pacientes com essa forma de lesão cutânea existe alta incidência de acometimento sistêmico.Sarcoidosis is a multi-system granulomatous disease that generally affects the respiratory tract and hilar lymph nodes. The skin is also commonly involved, although cutaneous sarcoidosis on the scalp is rare. Two cases of scalp sarcoidosis are reported: the first presented with patchy alopecia, cutaneous sarcoidosis and also systemic disease in a black patient; the second case is related to an uncommon presentation with alopecia as the single cutaneous manifestation in a Caucasian patient with pulmonary sarcoidosis. Scalp sarcoidosis deserves special attention because there is a high incidence of other systemic lesions with this cutaneous manifestation, thus a careful investigation should be performed in these patients.

  8. Uncommon EGFR mutations in cytological specimens of 1,874 newly diagnosed Indonesian lung cancer patients

    Science.gov (United States)

    Syahruddin, Elisna; Wulandari, Laksmi; Sri Muktiati, Nunuk; Rima, Ana; Soeroso, Noni; Ermayanti, Sabrina; Levi, Michael; Hidajat, Heriawaty; Widjajahakim, Grace; Utomo, Ahmad Rusdan Handoyo

    2018-01-01

    Purpose We aimed to evaluate the distribution of individual epidermal growth factor receptor (EGFR) mutation subtypes found in routine cytological specimens. Patients and methods A retrospective audit was performed on EGFR testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015–2016). Testing was performed by ISO15189 accredited central laboratory. Results Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. EGFR mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common EGFR mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher EGFR mutation rate (52.9%) vs men (39.1%; pcytological techniques yielded similar success rate to detect EGFR mutations. Uncommon EGFR mutations were frequent events in Indonesian lung cancer patients. PMID:29615847

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

    Science.gov (United States)

    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.

  10. Nasal Carriage of Uncommon Coagulase-Negative Staphylococci in Nurses and Physicians of Tehran University Hospitals

    Directory of Open Access Journals (Sweden)

    Elaheh Salimi

    2016-05-01

    Full Text Available Coagulase-negative staphylococci (CoNS have been identified as a major cause of nosocomial infections. Nasal carriage of CoNS in nurses and physicians is known to be an important risk factor for potential hospital infections. This study was carried out to investigate the prevalence of nasal carriage of uncommon coagulase-negative staphylococci among nurse and physician staffs of Tehran University Hospitals. A total of 116 CoNS were isolated from anterior nares of the study participants working in different wards of the hospitals. Thirteen uncommon CoNS were identified using phenotypic and biochemical methods, were subsequently confirmed by API kits. Staphylococcus xylosus, Staphylococcus haemolyticus, and Staphylococcus capitis species accounted for 53.85%, 30.77%, and 15.38% from the isolates, respectively. Six isolates (46.15% were found to be resistant to methicillin. In conclusion, screening of healthcare workers for uncommon CoNS colonization along with identification and testing for susceptibility of cultured isolates is of paramount importance in strengthening effective nosocomial infection control and prevention measures.

  11. Identification of uncommon oral yeasts from cancer patients by MALDI-TOF mass spectrometry.

    Science.gov (United States)

    Aslani, Narges; Janbabaei, Ghasem; Abastabar, Mahdi; Meis, Jacques F; Babaeian, Mahasti; Khodavaisy, Sadegh; Boekhout, Teun; Badali, Hamid

    2018-01-08

    Opportunistic infections due to Candida species occur frequently in cancer patients because of their inherent immunosuppression. The aim of the present study was to investigate the epidemiology of yeast species from the oral cavity of patients during treatment for oncological and haematological malignancies. MALDI-TOF was performed to identify yeasts isolated from the oral cavity of 350 cancer patients. Moreover, antifungal susceptibility testing was performed in according to CLSI guidelines (M27-A3). Among 162 yeasts and yeast-like fungi isolated from the oral cavity of cancer patients, Candida albicans was the most common species (50.6%), followed by Candida glabrata (24.7%), Pichia kudriavzevii (Candida krusei (9.9%)), Candida tropicalis (4.3%), Candida dubliniensis (3.7%), Kluyveromyces marxianus (Candida kefyr (3.7%)) and Candida parapsilosis (1%). In addition, uncommon yeast species i.e., Saprochaete capitata, Saccharomyces cerevisiae, Clavispora lusitaniae (C. lusitaniae) and Pichia kluyveri (C. eremophila) were recovered from oral lesions. Oral colonization by C. albicans, non-albicans Candida species and uncommon yeasts were as follow; 55%, 44% and 1%, whereas oral infection due to C. albicans was 33.3%, non-albicans Candida species 60.6%, and uncommon yeasts 6.1%. Poor oral hygiene and xerostomia were identified as independent risk factors associated with oral yeast colonization. The overall resistance to fluconazole was 11.7% (19/162). Low MIC values were observed for anidulafungin for all Candida and uncommon yeast species. This current study provides insight into the prevalence and susceptibility profiles of Candida species, including emerging Candida species and uncommon yeasts, isolated from the oral cavity of Iranian cancer patients. The incidence of oral candidiasis was higher amongst patients with hematological malignancies. The majority of oral infections were caused by non-albicans Candida species which were often more resistant to anti

  12. Squamous cell carcinoma presenting with trigeminal anesthesia: An uncommon presentation of head & neck cancer with unknown primary.

    Science.gov (United States)

    Shah, Ameer T; Dagher, Walid I; O'Leary, Miriam A; Wein, Richard O

    The differential diagnosis of facial anesthesia is vast. This may be secondary to trauma, neoplasm, both intracranial and extracranial, infection, and neurologic disease. When evaluating a patient with isolated facial anesthesia, the head and neck surgeon often thinks of adenoid cystic carcinoma, which has a propensity for perineural invasion and spread. When one thinks of head and neck squamous cell carcinoma with or without unknown primary, the typical presentation involves dysphagia, odynophagia, weight loss, hoarseness, or more commonly, a neck mass. Squamous cell carcinoma presenting as facial anesthesia and perineural spread, with no primary site is quite rare. Case presentations and review of the literature. Trigeminal anesthesia is an uncommon presentation of head and neck squamous cell carcinoma with unknown primary. We present two interesting cases of invasive squamous cell carcinoma of the trigeminal nerve, with no primary site identified. We will also review the literature of head and neck malignancies with perineural spread and the management techniques for the two different cases presented. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Uncommon Infections in Children Suggest Underlying Immunodeficiency: A Case of Infective Endocarditis in a 3-Year-Old Male

    Directory of Open Access Journals (Sweden)

    Aisha Shakoor

    2018-01-01

    Full Text Available Infective endocarditis (IE results from bacterial or fungal infection and is associated with significant morbidity and mortality. Several known risk factors exist for endocarditis, and 90% of pediatric cases have an underlying structural or congenital heart disease or prosthetic heart valve. Literature on IE in previously healthy children is relatively sparse, and the pathogenesis and underlying risk factors remain mostly unknown. Our patient was a 3-year-old male with a unique presentation of IE. His lack of structural and congenital risk factors for endocarditis prompted further workup, and labs were consistent with insufficient immunoglobulin, suggesting a primary immunodeficiency (PAD. PAD presents as heightened susceptibility to infections, commonly seen as recurrent pneumonia, meningitis, septic arthritis, and otitis media. Pediatric patients commonly have infections, yet as many as in 1 in 2000 patients have PAD. Our case emphasizes the potential need for further investigation into PAD in a young patient with no known risk factors who develops an uncommon infection such as IE.

  14. Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming.

    Science.gov (United States)

    Artusi, Carlo Alberto; Farooqi, Ashar; Romagnolo, Alberto; Marsili, Luca; Balestrino, Roberta; Sokol, Leonard L; Wang, Lily L; Zibetti, Maurizio; Duker, Andrew P; Mandybur, George T; Lopiano, Leonardo; Merola, Aristide

    2018-03-06

    In uncommon tremor disorders, clinical efficacy and optimal anatomical targets for deep brain stimulation (DBS) remain inadequately studied and insufficiently quantified. We performed a systematic review of PubMed.gov and ClinicalTrials.gov. Relevant articles were identified using the following keywords: "tremor", "Holmes tremor", "orthostatic tremor", "multiple sclerosis", "multiple sclerosis tremor", "neuropathy", "neuropathic tremor", "fragile X-associated tremor/ataxia syndrome", and "fragile X." We identified a total of 263 cases treated with DBS for uncommon tremor disorders. Of these, 44 had Holmes tremor (HT), 18 orthostatic tremor (OT), 177 multiple sclerosis (MS)-associated tremor, 14 neuropathy-associated tremor, and 10 fragile X-associated tremor/ataxia syndrome (FXTAS). DBS resulted in favorable, albeit partial, clinical improvements in HT cases receiving Vim-DBS alone or in combination with additional targets. A sustained improvement was reported in OT cases treated with bilateral Vim-DBS, while the two cases treated with unilateral Vim-DBS demonstrated only a transient effect. MS-associated tremor responded to dual-target Vim-/VO-DBS, but the inability to account for the progression of MS-associated disability impeded the assessment of its long-term clinical efficacy. Neuropathy-associated tremor substantially improved with Vim-DBS. In FXTAS patients, while Vim-DBS was effective in improving tremor, equivocal results were observed in those with ataxia. DBS of select targets may represent an effective therapeutic strategy for uncommon tremor disorders, although the level of evidence is currently in its incipient form and based on single cases or limited case series. An international registry is, therefore, warranted to clarify selection criteria, long-term results, and optimal surgical targets.

  15. MR imaging of uncommon soft tissue tumors in the foot: a pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Youn Joo; Chun, Kyung Ah; Kim, Jee Young; Sung, Mi Sook; Kim, Ki Tae [The Catholic University of Korea, Uijeongbu (Korea, Republic of)

    2007-06-15

    The large variety of masses occur in the foot. The foot is a comparatively rare site of soft tissue neoplasms. MRI has greatly improved the ability to detect and delineate soft tissue lesions and is now considered the gold-standard imaging technique in their investigation. Recently, we have encountered rare soft tissue tumors of the foot. The presented cases include benign masses such as granuloma annulare, angiomyoma, neural fibrolipoma, and giant cell tumor of tendon sheath, as well as malignant tumors such as melanoma, synovial sarcoma, rhabdomyosarcoma and extraskeletal myxoid chondrosarcoma. We wish to illustrate the MR findings of these uncommon soft tissue mors to aid in their diagnosis.

  16. The first Swedish H1N2 swine influenza virus isolate represents an uncommon reassortant

    OpenAIRE

    Renström Lena HM; Isaksson Mats; Berg Mikael; Zohari Siamak; Widén Frederik; Metreveli Giorgi; Bálint Ádám; Wallgren Per; Belák Sándor; Segall Thomas; Kiss István

    2009-01-01

    Abstract The European swine influenza viruses (SIVs) show considerable diversity comprising different types of H1N1, H3N2, and H1N2 strains. The intensifying full genome sequencing efforts reveal further reassortants within these subtypes. Here we report the identification of an uncommon reassortant variant of H1N2 subtype influenza virus isolated from a pig in a multisite herd where H1N2 swine influenza was diagnosed for the first time in Sweden during the winter of 2008-2009. The majority o...

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

    Science.gov (United States)

    Sierra-Solís, A; Leo-Barahona, M; Romero-López, A I; Gómez-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. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.

  18. An uncommon cause of acquired osteosclerosis in adults: hepatitis C-associated osteosclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Epperla, Narendranath [Marshfield Clinic, Department of Internal Medicine, Marshfield, WI (United States); McKiernan, Fergus E. [Marshfield Clinic, Center for Bone Disease, Marshfield, WI (United States)

    2014-09-15

    Hepatitis C-associated osteosclerosis (HCAO) is a rare sclerosing bone condition characterized by debilitating, predominantly lower extremity bone pain, accelerated bone turnover, and a generalized increase in histologically normal trabecular and cortical bone tissue. Herein we report the clinical presentation and imaging results of the 19th case of HCAO. Clinicians, particularly those caring for a population at risk for HCV infection, should be aware of this uncommon condition. The etio-pathogenesis of HCAO remains obscure but may bear important lessons in bone biology that could lead to new treatment options for osteoporosis. (orig.)

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

    Science.gov (United States)

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

    2016-01-01

    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

  20. Clinical features and treatment outcome of non-small cell lung cancer (NSCLC) patients with uncommon or complex epidermal growth factor receptor (EGFR) mutations

    Science.gov (United States)

    Fassan, Matteo; Indraccolo, Stefano; Calabrese, Fiorella; Favaretto, Adolfo; Bonanno, Laura; Polo, Valentina; Zago, Giulia; Lunardi, Francesca; Attili, Ilaria; Pavan, Alberto; Rugge, Massimo; Guarneri, Valentina; Conte, PierFranco; Pasello, Giulia

    2017-01-01

    Introduction Tyrosine-kinase inhibitors (TKIs) represent the best treatment for advanced non-small cell lung cancer (NSCLC) with common exon 19 deletion or exon 21 epidermal growth factor receptor mutation (EGFRm). This is an observational study investigating epidemiology, clinical features and treatment outcome of NSCLC cases harbouring rare/complex EGFRm. Results Among 764 non-squamous NSCLC cases with known EGFRm status, 26(3.4%) harboured rare/complex EGFRm. Patients receiving first-line TKIs (N = 17) achieved median Progression Free Survival (PFS) and Overall Survival (OS) of 53 (IC 95%, 2–105) and 84 (CI 95%, 27–141) weeks respectively, without significant covariate impact. Response Rate and Disease Control Rate (DCR) were 47% and 65%, respectively. Uncommon exon 19 mutations achieved longer OS and PFS and higher DCR compared with exon 18 and 20 mutations. No additional gene mutation was discovered by MassARRAY analysis. TKIs were globally well tolerated. Materials and methods A retrospective review of advanced non-squamous NSCLC harbouring rare/complex EGFRm referred to our Center between 2010 and 2015 was performed. Additional molecular pathways disregulation was explored in selected cases, through MassARRAY analysis. Conclusions Peculiar clinical features and lower TKIs sensitivity of uncommon/complex compared with common EGFRm were shown. Exon 19 EGFRm achieved the best TKIs treatment outcome, while the optimal treatment of exon 18 and 20 mutations should be further clarified. PMID:28427238

  1. Radiation Recall Reaction: Two Case Studies Illustrating an Uncommon Phenomenon Secondary to Anti-Cancer Agents

    International Nuclear Information System (INIS)

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

    2012-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    Marcel Petreanu

    2015-01-01

    Full Text Available 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.

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

    Directory of Open Access Journals (Sweden)

    Mazen Zaarour

    2015-01-01

    Full Text Available 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.

  4. An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

    2014-01-01

    Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.

  5. [Esophageal bronchogenic cyst: an uncommon cause of dysphagia in adults. Case report and literature review].

    Science.gov (United States)

    Ceniceros-Cabrales, Ana P; Sánchez-Fernández, Patricio

    2018-01-01

    Bronchogenic cysts result from abnormal budding of the primitive tracheobronchial tube and are rare congenital cystic lesions. The location of the cyst depends on the embryological stage of abnormal budding. Although periesophageal bronchogenic cysts have been frequently reported, a completely intramural cyst is very rare. A 42-year-old female patient, a three-month course with retrosternal pain associated with food intake, accompanied by intermittent dysphagia to solids. Esophagogram, high resolution thoracic tomography and endoscopic ultrasound are performed, concluding a probable esophageal bronchogenic cyst. Resection is performed by video-assisted thoracic surgery, without complications. Patient presents with adequate evolution and complete remission of the symptomatology. Bronchogenic cysts of the esophageal wall are extremely uncommon lesions. Its surgical treatment is indicated to be symptomatic; video-assisted thoracoscopic surgery resection is of choice, with excellent long-term results and minimal morbidity. Copyright: © 2018 Permanyer.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  8. [Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum].

    Science.gov (United States)

    Le Loch, J-B; Freymond, N; Khettab, F; Pacheco, Y; Devouassoux, G

    2008-02-01

    Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

  9. Uncommon Asymptomatic Unilateral Complete Duplicated Collecting System and Giant Ectopic Ureterocele in Middle-Age Patient

    Directory of Open Access Journals (Sweden)

    Halil Serin

    2014-02-01

    Full Text Available Ureterocele is a common pediatric urologic problem, but has been reported seldom in adults. Most duplex system ureteroceles existent as urinary tract infections at an early age, with adult presentation being uncommon. Urinary stasis in the dilated distal ureter often lends to urinary infection and stone formation; precluding the most common offering symptoms of dysuria, urgency, and recurrent urinary tract infections. Ižn duplex system ureteroceles to poorly or non-functioning moieties, heminephroureterectomy is an definite solution. We present a case of rarely middle-age asymptomatic obstructive giant ureterocele. We intended to emphasize that patient with obstructive, giant, ectopic ureterocele and duplicated collecting system may have asymptomatic course.

  10. Fatigue Stress Fracture of the Talar Body: An Uncommon Cause of Ankle Pain.

    Science.gov (United States)

    Kim, Young Sung; Lee, Ho Min; Kim, Jong Pil; Moon, Han Sol

    2016-01-01

    Fatigue stress fractures of the talus are rare and usually involve the head of the talus in military recruits. We report an uncommon cause of ankle pain due to a fatigue stress fracture of the body of the talus in a 32-year-old male social soccer player. Healing was achieved after weightbearing suppression for 6 weeks. Although rare, a stress fracture of the body of the talus should be considered in an athlete with a gradual onset of chronic ankle pain. Magnetic resonance imaging and bone scan are useful tools for early diagnosis. Copyright © 2016 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  11. Analysis of readability and quality of web pages addressing both common and uncommon topics in pediatric surgery.

    Science.gov (United States)

    Adorisio, Ottavio; Silveri, Massimiliano; Rivosecchi, Massimo; Tozzi, Alberto Eugenio; Scottoni, Federico; Buonuomo, Paola Sabrina

    2012-06-01

    The quality medical information on Internet is highly variable. The aim of this study is to determine if Web pages addressing four common pediatric surgical topics (CT) and four uncommon pediatric surgical topics (UT) differ significantly in terms of quality and/or characteristics. We performed an Internet search regarding four CT, addressing more frequent clinical conditions with an incidence≤1:1.500 children (inguinal hernia, varicocele, umbilical hernia, and phimosis) and four UT addressing less frequent clinical conditions with an incidence≥1:1.500 children (anorectal malformation, intestinal atresia, gastroschisis, and omphalocele), using a popular search engine (Google). We evaluated readability with the Flesch reading ease (FRE) and the Flesch-Kincaid grade (FKG) and quality of content using the site checker of the HON Code of Conduct (HON code) for each website. In this study, 30/40 websites addressing CT versus 33/50 addressing UT responded to our criteria. No differences statistically significant in advertisements between the two groups were found (15 vs. 16%) (p>0.05). No differences were found in terms of time from last update, owner/author type, financial disclosure, accreditation, or advertising. CT had higher quality level according to the HON code (6.54±1.38 vs. 5.05±1.82) (p0.05). The mean FKG was 8.1±1.9 for CT versus 8±1.9 for UT (p>0.05). Websites devoted to pediatric surgical topics have higher readability and quality information for disease diagnosis and natural history. Otherwise, the quality of pediatric surgical information on the Internet is high for CT and UT. A high reading level is required to use these resources. Copyright © 2012 by Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Uncommon presentations of intraosseous haemophilic pseudotumor in imaging diagnosis; Apresentacoes incomuns no diagnostico por imagem do pseudotumor intraosseo do hemofilico

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Marcel Koenigkam; Polezi, Mariana Basso; Pastorello, Monica Tempest; Simao, Marcelo Novelino [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Hospital das Clinicas; Engel, Edgard Eduard [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Dept. de Biomecanica, Medicina e Reabilitacao do Aparelho Locomotor; Elias Junior, Jorge; Nogueira-Barbosa, Marcello Henrique [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Div. de Radiologia], e-mail: marcellonog@yahoo.com

    2009-05-15

    Objective: The present study was aimed at describing uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis. Materials and methods: Retrospective study evaluating five hemophilic pseudotumors in bones of two patients with hemophilia A. Imaging findings were consensually evaluated by two musculoskeletal radiologists. Plain radiography, computed tomography and magnetic resonance imaging studies were analyzed. Results: At contrast-enhanced computed tomography images, one of the lesions on the left thigh was visualized with heterogeneously enhanced solid areas. This finding was later confirmed by anatomopathological study. Another uncommon finding was the identification of a healthy bone portion interposed between two intraosseous pseudotumors in the humerus. And, finally, a femoral pseudotumor with extension towards soft tissues and transarticular extension, and consequential tibial and patellar involvement. Conclusion: The above described imaging findings are not frequently reported in cases of intraosseous pseudotumors in hemophilic patients. It is important that radiologists be aware of these more uncommon presentations of intraosseous pseudotumors. (author)

  13. One Patient, Two Uncommon B-Cell Neoplasms: Solitary Plasmacytoma following Complete Remission from Intravascular Large B-Cell Lymphoma Involving Central Nervous System

    Directory of Open Access Journals (Sweden)

    Joycelyn Lee

    2014-01-01

    Full Text Available Second lymphoid neoplasms are an uncommon but recognized feature of non-Hodgkin’s lymphomas, putatively arising secondary to common genetic or environmental risk factors. Previous limited evaluations of clonal relatedness between successive mature B-cell malignancies have yielded mixed results. We describe the case of a man with intravascular large B-cell lymphoma involving the central nervous system who went into clinical remission following immunochemotherapy and brain radiation, only to relapse 2 years later with a plasmacytoma of bone causing cauda equina syndrome. The plasmacytoma stained strongly for the cell cycle regulator cyclin D1 on immunohistochemistry, while the original intravascular large cell lymphoma was negative, a disparity providing no support for clonal identity between the 2 neoplasms. Continued efforts atcataloging and evaluating unique associations of B-cell malignancies are critical to improving understanding of overarching disease biology in B-cell malignancies.

  14. Intra-articular fibrous band of the ankle: an uncommon cause of post-traumatic ankle pain

    International Nuclear Information System (INIS)

    Slavotinek, J.P.; Martin, D.K.

    2006-01-01

    A case of an intra-articular fibrous band of the ankle is presented with emphasis on the MR imaging appearances. This entity is an important but uncommon cause of post-traumatic ankle pain and is well recognized within the arthroscopy literature, but there is little if any documentation of this condition in the imaging literature

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

    Science.gov (United States)

    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.

  16. Well-differentiated fetal adenocarcinoma: A very uncommon malignant lung tumor

    Directory of Open Access Journals (Sweden)

    H. El Ouazzani

    2012-01-01

    Full Text Available 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. Resumo: O adenocarcinoma fetal bem diferenciado (WDFA, de acordo com a sigla em inglês é um tumor maligno no pulmão muito invulgar que tem origem no pulmão. Este relatório descreve o caso de uma mulher de 38 anos com WDFA tratada através de cirurgia. A malignidade é de baixo grau e está associada a um bom prognóstico e, por isso, é importante que os clínicos estejam atentos e identifiquem esta variante rara de adenocarcinoma. Keywords: Well-differentiated fetal adenocarcinoma, Lung, Good prognosis, Palavras-chave: Adenocarcinoma fetal bem diferenciado, pulmão, bom prognóstico

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

    Science.gov (United States)

    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. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  18. Cytological Diagnosis of an Uncommon High Grade Malignant Thyroid Tumour: A Case Report.

    Science.gov (United States)

    Nagpal, Ruchi; Kaushal, Manju; Kumar, Sawan

    2017-07-01

    Anaplastic Thyroid Carcinoma (ATC) is a relatively uncommon highly malignant tumour originating from the follicular cells of thyroid gland having poor prognosis. It accounts for 2% to 5% of all thyroid carcinomas and patients typically present with a rapidly growing anterior neck mass with aggressive symptoms. A 53-year-old male presented with diffuse neck swelling measuring 8x6 cm and right cervical lymph node measuring 2x2 cm since one month which was associated with dyspepsia and dyspnoea. Ultrasound and Contrast Enhanced Computed Tomography (CECT) neck revealed enlarged right lobe of thyroid and multiple enlarged cervical lymph nodes with soft tissue density nodules in bilateral lungs. Fine Needle Aspiration (FNA) from the swelling revealed giant cell, spindle cell and squamoid pattern. Focal areas showed follicular epithelial cells arranged in repeated microfollicular pattern suggesting an underlying follicular neoplasm. FNAC smears from the lymph node also revealed similar findings. Based on the cytomorphological and radiological findings, final diagnosis of ATC probably arising from underlying follicular carcinoma with cervical lymph node and lung metastasis was given. FNAC leads to prompt and definitive diagnosis, so that therapy can be initiated as soon as possible for better outcome. Multimodality therapy (surgery, external beam radiation, and chemotherapy) is the mainstay of treatment.

  19. Phenolic profiling of Portuguese propolis by LC-MS spectrometry: uncommon propolis rich in flavonoid glycosides.

    Science.gov (United States)

    Falcão, Soraia I; Vale, Nuno; Gomes, Paula; Domingues, Maria R M; Freire, Cristina; Cardoso, Susana M; Vilas-Boas, Miguel

    2013-01-01

    Propolis is a chemically complex resinous substance collected by honeybees (Apis mellifera) from tree buds, comprising plant exudates, secreted substances from bee metabolism, pollen and waxes. Its chemical composition depends strongly on the plant sources available around the beehive, which have a direct impact in the quality and bioactivity of the propolis. Being as Portugal is a country of botanical diversity, the phenolic characterisation of propolis from the different regions is a priority. Extensive characterisation of the phenolic composition of Portuguese propolis from different continental regions and islands. Forty propolis ethanolic extracts were analysed extensively by liquid chromatography with diode-array detection coupled to electrospray ionisation tandem mass spectrometry (LC-DAD-ESI-MS(n) ). Seventy-six polyphenols were detected in the samples and two groups of propolis were established: the common temperate propolis, which contained the typical poplar phenolic compounds such as flavonoids and their methylated/esterified forms, phenylpropanoid acids and their esters, and an uncommon propolis type with an unusual composition in quercetin and kaempferol glycosides - some of them never described in propolis. The method allowed the establishment of the phenolic profile of Portuguese propolis from different geographical locations, and the possibility to use some phenolic compounds, such as kaempferol-dimethylether, as geographical markers. Data suggest that other botanical species in addition to poplar trees can be important sources of resins for Portuguese propolis. Copyright © 2012 John Wiley & Sons, Ltd.

  20. Management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation

    Directory of Open Access Journals (Sweden)

    Zafar Ali Khan

    2017-12-01

    Full Text Available Background Trigeminal neuralgia (TN may sometimes present secondary to an intra-cranial cause. Arnold Chiari Malformation (ACM is downward herniation of the cerebellar tonsils through the foramen magnum that may be a cause of TN like pain in very rare cases. Aims The aim of this brief report is to suggest the proper management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation. Methods A male patient presented electric shock like stabbing pain on the right side of the face for more than ten years. The symptoms were typical of trigeminal neuralgia except that there was loss of corneal reflex on the right side and the patient also complained of gait & sleep disturbances. Complex and multilevel diagnosis was made. Results A multiplanar imaging through brain acquiring T1/T2W1 revealed ACM Type I Malformation with caudal displacement of cerebellar tonsils through foramen magnum. Conclusion Dental surgeons and oral and Maxillofacial Surgeons should exclude intra-cranial causes by Magnetic Resonance Imaging(MRI in patients of TN presenting with loss of corneal reflex, gait and sleep disturbances due to night time pain episodes.

  1. Radioactive iodine-refractory differentiated thyroid cancer: an uncommon but challenging situation

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, Angelica; Iglesias, Laura; Schlumberger, Martin J. [Institut Gustave Roussy, Univ. Paris-Saclay, Villejuif (France); Klain, Michele [Univ. Federico II di Napoli (Italy); Pitoia, Fabian [Division of Endocrinology, Hospital de Clinicas, Univ. of Buenos Aires (Argentina)

    2017-01-15

    Radioiodine (RAI)-refractory thyroid cancer is an uncommon entity, occurring with an estimated incidence of 4-5 cases/year/million people. RAI refractoriness is more frequent in older patients, in those with large metastases, in poorly differentiated thyroid cancer, and in those tumors with high 18-fluorodeoxyglucose uptake on PET/CT. These patients have a 10-year survival rate of less than 10%. In recent years, new therapeutic agents with molecular targets have become available, with multi kinase inhibitors (MKIs) being the most investigated drugs. Two of these compounds, sorafenib and lenvatinib, have shown significant objective response rates and have significantly improved the progression-free survival in the two largest published prospective trials on MKI use. However, no overall survival benefit has been achieved yet. This is probably related to the crossover that occurs in most patients who progress on placebo treatment to the open treatment of these studies. In consequence, the challenge is to correctly identify which patients will benefit from these treatments. It is also crucial to understand the appropriate timing to initiate MKI treatment and when to stop it. The purpose of this article is to define RAI refractoriness, to summarize which therapies are available for this condition, and to review how to select patients who are suitable for them. (author)

  2. Eosinophils in biopsy specimens of lichen sclerosus: a not uncommon finding.

    Science.gov (United States)

    Lester, Elizabeth B; Swick, Brian L

    2015-01-01

    Evolving lesions of lichen sclerosus (LS) pose a diagnostic challenge owing to an absence of classic findings of epidermal atrophy, dermal sclerosis, a band-like lymphocytic infiltrate and the presence of eosinophils. Retrospective specimens of LS were reviewed. Demographic information, biopsy vs. excision and the following histopathological characteristics were noted: presence and number of eosinophils, epidermal hyperplasia, spongiosis, early/transitional LS, well-developed LS and coexisting squamous cell carcinoma (SCC). Linear regression analysis was performed. The data consisted of 66 biopsies (36 male [M], 30 female [F]), from 53 individuals (33M, 20F), including 57 genital and 9 extragenital biopsies. Seven biopsies showed SCC, 28 showed epidermal hyperplasia and 14 exhibited spongiosis. Thirty-five specimens were early/transitional LS and commonly exhibited epidermal hyperplasia (57%), epidermotropism of lymphocytes (97%) and basement membrane thickening (97%). Thirty-five biopsies (53%) contained eosinophils (23 early/transitional lesions). Male gender (p = 0.074) was associated with increased eosinophils. The presence of SCC (p = 0.014) was a significant predictors of eosinophil number. Epidermal hyperplasia, epidermotropism of lymphocytes and basement membrane thickening are helpful features in identifying early LS. Eosinophils are not an uncommon finding in LS and are most common in male genital lesions and in LS associated with SCC. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Changing Trend In Coronary Heart Disease In Nigeria

    African Journals Online (AJOL)

    Buchi

    lifestyle. Conclusion: Coronary Heart disease is still relatively uncommon in ... the world where most health resources are channeled into .... cholesterol in the elderly population in Benin, Nigeria, .... Reducing risks, promoting healthy life.

  4. The first Swedish H1N2 swine influenza virus isolate represents an uncommon reassortant

    Directory of Open Access Journals (Sweden)

    Renström Lena HM

    2009-10-01

    Full Text Available Abstract The European swine influenza viruses (SIVs show considerable diversity comprising different types of H1N1, H3N2, and H1N2 strains. The intensifying full genome sequencing efforts reveal further reassortants within these subtypes. Here we report the identification of an uncommon reassortant variant of H1N2 subtype influenza virus isolated from a pig in a multisite herd where H1N2 swine influenza was diagnosed for the first time in Sweden during the winter of 2008-2009. The majority of the European H1N2 swine influenza viruses described so far possess haemagglutinin (HA of the human-like H1N2 SIV viruses and the neuraminidase (NA of either the European H1N2 or H3N2 SIV-like viruses. The Swedish isolate has an avian-like SIV HA and a H3N2 SIV-like NA, which is phylogenetically more closely related to H3N2 SIV NAs from isolates collected in the early '80s than to the NA of H3N2 origin of the H1N2 viruses isolated during the last decade, as depicted by some German strains, indicative of independent acquisition of the NA genes for these two types of reassortants. The internal genes proved to be entirely of avian-like SIV H1N1 origin. The prevalence of this SIV variant in pig populations needs to be determined, as well as the suitability of the routinely used laboratory reagents to analyze this strain. The description of this H1N2 SIV adds further information to influenza epidemiology and supports the necessity of surveillance for influenza viruses in pigs.

  5. The first Swedish H1N2 swine influenza virus isolate represents an uncommon reassortant.

    Science.gov (United States)

    Bálint, Adám; Metreveli, Giorgi; Widén, Frederik; Zohari, Siamak; Berg, Mikael; Isaksson, Mats; Renström, Lena Hm; Wallgren, Per; Belák, Sándor; Segall, Thomas; Kiss, István

    2009-10-28

    The European swine influenza viruses (SIVs) show considerable diversity comprising different types of H1N1, H3N2, and H1N2 strains. The intensifying full genome sequencing efforts reveal further reassortants within these subtypes. Here we report the identification of an uncommon reassortant variant of H1N2 subtype influenza virus isolated from a pig in a multisite herd where H1N2 swine influenza was diagnosed for the first time in Sweden during the winter of 2008-2009. The majority of the European H1N2 swine influenza viruses described so far possess haemagglutinin (HA) of the human-like H1N2 SIV viruses and the neuraminidase (NA) of either the European H1N2 or H3N2 SIV-like viruses. The Swedish isolate has an avian-like SIV HA and a H3N2 SIV-like NA, which is phylogenetically more closely related to H3N2 SIV NAs from isolates collected in the early '80s than to the NA of H3N2 origin of the H1N2 viruses isolated during the last decade, as depicted by some German strains, indicative of independent acquisition of the NA genes for these two types of reassortants. The internal genes proved to be entirely of avian-like SIV H1N1 origin. The prevalence of this SIV variant in pig populations needs to be determined, as well as the suitability of the routinely used laboratory reagents to analyze this strain.The description of this H1N2 SIV adds further information to influenza epidemiology and supports the necessity of surveillance for influenza viruses in pigs.

  6. White-Coat Effect Is Uncommon in Patients With Refractory Hypertension.

    Science.gov (United States)

    Siddiqui, Mohammed; Judd, Eric K; Oparil, Suzanne; Calhoun, David A

    2017-09-01

    Refractory hypertension is a recently described phenotype of antihypertensive treatment failure defined as uncontrolled blood pressure (BP) despite the use of ≥5 different antihypertensive agents, including chlorthalidone and spironolactone. Recent studies indicate that refractory hypertension is uncommon, with a prevalence of ≈5% to 10% of patients referred to a hypertension specialty clinic for uncontrolled hypertension. The prevalence of white-coat effect, that is, uncontrolled automated office BP ≥135/85 mm Hg and controlled out-of-office BP hypertensive patients overall is ≈30% to 40%. The prevalence of white-coat effect among patients with refractory hypertension has not been previously reported. In this prospective evaluation, consecutive patients referred to the University of Alabama at Birmingham Hypertension Clinic for uncontrolled hypertension were enrolled. Refractory hypertension was defined as uncontrolled automated office BP ≥135/85 mm Hg with the use of ≥5 antihypertensive agents, including chlorthalidone and spironolactone. Automated office BP measurements were based on 6 serial readings, done automatically with the use of a BpTRU device unobserved in the clinic. Out-of-office BP measurements were done by 24-hour ambulatory BP monitor. Thirty-four patients were diagnosed with refractory hypertension, of whom 31 had adequate ambulatory BP monitor readings. White-coat effect was present in only 2 patients, or 6.5% of the 31 patients with refractory hypertension, suggesting that white-coat effect is largely absent in patients with refractory hypertension. These findings suggest that white-coat effect is not a common cause of apparent lack of BP control in patients failing maximal antihypertensive treatment. © 2017 American Heart Association, Inc.

  7. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

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

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2014-01-01

    Full Text Available 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.

  9. Hypertensive Crisis in A Young Woman: A Rare Presentation of an Uncommon Disease (Poster), New Nerve racking Neurologic Symptoms (Podium)

    Science.gov (United States)

    2017-04-26

    NNllE. RANKiGRACE. TITLE OF REVlEWE:R 45. ~EVIEWER Sl~NATURE 50. DATE PREVIOUS EDITIONS ARE OBS>CL ETE Title: Hypertensive Crisis in a Young Woman : A...male with past medical history of m ild developmental delay developed increasing fatigue and 20 pound weight loss over two months. She then presented...lower extremity weakness --- • Pertinent past medical and surgical history : • ER/PR + Breast cancer (stage Ill) in 2013 • Bilateral mastectomy and

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

    OpenAIRE

    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...

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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. [Un]disciplined gestures and [un]common sense: the sensual, acoustic logic(s) of paradox and art

    OpenAIRE

    Calvert, Sheena

    2009-01-01

    This dissertation takes as its point of departure, the claim that difference, not identity, is the primary quality of language. This difference is initially argued to be an 'uncommon sense'; one which does not emerge from a ground, origin, or operate within a dialectic of essence/appearance, but which consists of an economy of acoustic surfaces/timings/spatialities: diffuse, interpenetrative, and unclassifiable: a 'sensual' logic, not a logic based on identity, or metaphysics. Traditional phi...

  14. Selective common and uncommon imaging manifestations of blunt nonaortic chest trauma: when time is of the essence.

    Science.gov (United States)

    Altoos, Rola; Carr, Robert; Chung, Jonathan; Stern, Eric; Nevrekar, Dipti

    2015-01-01

    This is a pictorial essay in which we review and illustrate a variety of thoracic injuries related to blunt trauma. Non-aortic blunt thoracic trauma can be divided anatomically into injuries of the chest wall, lungs, pleura, mediastinum, and diaphragm. Some injuries involve more than one anatomic compartment, and multiple injuries commonly coexist. This article provides common imaging findings and discussion of both common and uncommon but critical thoracic injuries encountered. Published by Elsevier Inc.

  15. Uncommon primary tumors of the orbit diagnosed by computed tomography-guided core needle biopsy: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Tyng, Chiang Jeng; Matushita Junior, Joao Paulo Kawaoka; Bitencourt, Almir Galvao Vieira; Amoedo, Mauricio Kauark; Barbosa, Paula Nicole Vieira; Chojniak, Rubens, E-mail: almirgvb@yahoo.com.br [A.C.Camargo Cancer Center, Sao Paulo, SP (Brazil). Dept. de Imagem; Neves, Flavia Branco Cerqueira Serra [Hospital do Servidor Publico Estadual, Sao Paulo, SP (Brazil). Div. de Oftalmologia

    2014-11-15

    Computed tomography-guided percutaneous biopsy is a safe and effective alternative method for evaluating selected intra-orbital lesions where the preoperative diagnosis is important for the therapeutic planning. The authors describe two cases of patients with uncommon primary orbital tumors whose diagnosis was obtained by means of computed tomography-guided core needle biopsy, with emphasis on the technical aspects of the procedure. (author)

  16. Photorefractive keratectomy after cataract surgery in uncommon cases: long-term results

    Directory of Open Access Journals (Sweden)

    Anna Maria Roszkowska

    2018-04-01

    Full Text Available AIM: To evaluate the efficacy and safety of the excimer laser correction of the residual refractive errors after cataract extraction with intraocular lens (IOL implantation in uncommon cases. METHODS: Totally 24 patients with high residual refractive error after cataract surgery with IOL implantation were examined. Twenty-two patients had a history of phacoemulsification and IOL implantation, and two had extra-capsular cataract extraction with IOL implantation. Detailed examination of preoperative medical records was done to explain the origin of the post-cataract refractive errors. All patients underwent photorefractire keratectomy (PRK enhancement. The mean outcome measures were refraction, uncorretted visual acuity (UCVA, best corrected visual acuity (BCVA and corneal transparency and follow up ranged from 1 to 8y. RESULTS: The principal causes of residual ametropia was inexact IOL calculation in abnormal eyes with high myopia and congenital lens abnormalities, followed by corneal astigmatism both suture induced and preexisting. After cataract surgery and before the laser enhancement the mean spherical equivalent (SE was -0.56±3 D ranging from -4.62 to +2.25 D in high myopic patients, instead it was -1±1.73 D ranging from -3.25 to +3.75 D in the astigmatic eyes, with a mean cylinder of -3.75±0 ranging from -3 to +5.50 D. After laser refractive surgery the mean SE was 0.1±0.73, ranging from -0.50 to +1.50 in the myopic group, and it was -0.50±0.57 ranging from -1.25 to +0.50 in astigmatic patients, with a mean cylinder of -0.25±0.75. In myopic patients the mean UCVA and BCVA were 0.038±0.072 logMAR and 0.018±0.04 respectively, both ranging from 0.10 to 0.0. In astigmatic patients, the mean UCVA and BCVA were 0.213±0.132 and 0.00±0.0 respectively, UCVA ranging from 0.50 to 0.22 and BCVA was 0.00. All patients presented normal corneal transparency. No ocular hypertension was detected and no corneal haze was observed. All registered

  17. Genetics Home Reference: Gaucher disease

    Science.gov (United States)

    ... 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  18. Right hilar mass with hemoptysis: An unusual presentation of uncommon disorder

    Directory of Open Access Journals (Sweden)

    Asmita A Mehta

    2011-01-01

    Full Text Available Common differential diagnosis of lung and hilar opacity includes infectious pathology or a mitotic lesion. Behcet′s disease (BD is a rarely diagnosed disease in Indian subcontinent. BD is a multisystem inflammatory disorder that presents with recurrent orogenital ulceration, uveitis, and erythema nodosum. We present here the case of a patient who presented with recurrent hemoptysis with radiological picture of hilar mass, during the evaluation of which the diagnosis of BD was established.

  19. The “Pearls” of Multidisciplinary Team: Conquering the Uncommon Rosette Rash

    Directory of Open Access Journals (Sweden)

    Nitin Verma

    2016-01-01

    Full Text Available Linear IgA disease of childhood (LAD also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling “strings of pearls” or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia. The rash transformed into painful blisters. A recent contact with chickenpox was present. She remained apyrexial but hemodynamically stable and was treated as chickenpox patient with secondary infection. Due to persistent symptoms after repeated attendance she was reviewed by Dermatology team and diagnosed with linear IgA disease also known as chronic bullous disease of childhood. This was based on the presence of blistering rash with rosette appearance and string of pearl lesions. The clinical features of LAD can be difficult to distinguish from more common skin infections. Benefiting from the experience of other multidisciplinary teams can sometimes be a game changer and can lead to the correct diagnosis and treatment.

  20. Immunologically mediated oral diseases

    OpenAIRE

    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 imm...

  1. Pleomorphic Adenoma of Breast: A Radiological and Pathological Study of a Common Tumor in an Uncommon Location

    Directory of Open Access Journals (Sweden)

    Paula S. Ginter

    2015-01-01

    Full Text Available Pleomorphic adenoma occurs commonly in the major salivary glands but is uncommonly encountered in the breast. In both of these locations, the tumor is typically grossly circumscribed and has a “mixed” histological appearance, being composed of myoepithelial and epithelial components amid a myxochondroid matrix. Herein, we report a case of pleomorphic adenoma of the breast which was preoperatively thought to represent a fibroadenoma on clinical and radiological grounds. It is the rarity of the tumor in the breast, rather than its histological appearance, that causes diagnostic difficulty.

  2. Right Brain/Left Brain President Barack Obama's Uncommon Leadership Ability and How We Can Each Develop It

    CERN Document Server

    Decosterd, Mary Lou

    2010-01-01

    Right Brain/Left Brain President: Barack Obama's Uncommon Leadership Ability and How We Can Each Develop It is an inspirational guide to leadership as it should be practiced, conveyed through an up-close look at the man who sets the new leadership bar. Author Mary Lou D'costerd uses her Right Brain/Left Brain Leadership Model to frame Barack Obama's leadership skill sets. Her book shows that Obama's unique brand of leadership is the result of his extraordinary ability to leverage full-brain potential in the ways he thinks, decides, and acts. ||Right Brain/Left Brain President examines Obama's

  3. Mycobacterium bovis and Other Uncommon Members of the Mycobacterium tuberculosis Complex.

    Science.gov (United States)

    Esteban, Jaime; Muñoz-Egea, Maria-Carmen

    2016-12-01

    Since its discovery by Theobald Smith, Mycobacterium bovis has been a human pathogen closely related to animal disease. At present, M. bovis tuberculosis is still a problem of importance in many countries and is considered the main cause of zoonotic tuberculosis throughout the world. Recent development of molecular epidemiological tools has helped us to improve our knowledge about transmission patterns of this organism, which causes a disease indistinguishable from that caused by Mycobacterium tuberculosis. Diagnosis and treatment of this mycobacterium are similar to those for conventional tuberculosis, with the important exceptions of constitutive resistance to pyrazinamide and the fact that multidrug-resistant and extremely drug-resistant M. bovis strains have been described. Among other members of this complex, Mycobacterium africanum is the cause of many cases of tuberculosis in West Africa and can be found in other areas mainly in association with immigration. M. bovis BCG is the currently available vaccine for tuberculosis, but it can cause disease in some patients. Other members of the M. tuberculosis complex are mainly animal pathogens with only exceptional cases of human disease, and there are even some strains, like "Mycobacterium canettii," which is a rare human pathogen that could have an important role in the knowledge of the evolution of tuberculosis in the history.

  4. Melanoacanthoma: Uncommon presentation of an uncommon condition

    Directory of Open Access Journals (Sweden)

    Resham J Vasani

    2013-01-01

    Full Text Available Melanoacanthoma is very rare variant of seborrheic keratosis presenting as a deeply pigmented benign proliferation of melanocytes and keratinocytes usually presenting over the head, neck and trunk of elderly people. A sixty-two-years-old male was presented with a solitary slow growing asymptomatic hyperpigmented verrucous outgrowth with cerebriform surface measuring 15 cm by 8 cm present over the left inguinal region extending on to the scrotum since past 8 years. There was no associated lymphadenopathy. The histopathology revealed hyperkeratosis, papillomatosis, acanthosis with presence of melanocytes at all levels of epidermis with abundant melanin giving the diagnosis of melanoacanthoma. The patient further underwent surgical excision of the lesion. The case is being reported for its rarity, unusual location, massive size and clinical resemblance to a verrucous carcinoma.

  5. Pseudomonas species as an uncommon culprit in transbronchial needle aspiration of mediastinal lymph node

    Directory of Open Access Journals (Sweden)

    Avdhesh Bansal

    2016-01-01

    Full Text Available Mediastinal lymphadenopathy due to various infective agents such as Mycobacterium and fungus, due to sarcoidosis, lymphoma, and metastasis is often seen. Ordinary bacteria have rarely been reported to cause necrotizing, usually suppurative granulomatous reactions. We report a case of mediastinal lymphadenopathy due to Pseudomonas infection, in a patient of chronic kidney disease on maintenance hemodialysis, who presented with fever, breathlessness, and low blood pressure.

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

    Energy Technology Data Exchange (ETDEWEB)

    Watson, R.

    1995-07-01

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

  7. Assessment of long-term knowledge retention following single-day simulation training for uncommon but critical obstetrical events

    Science.gov (United States)

    Vadnais, Mary A.; Dodge, Laura E.; Awtrey, Christopher S.; Ricciotti, Hope A.; Golen, Toni H.; Hacker, Michele R.

    2013-01-01

    Objective The objectives were to determine (i) whether simulation training results in short-term and long-term improvement in the management of uncommon but critical obstetrical events and (ii) to determine whether there was additional benefit from annual exposure to the workshop. Methods Physicians completed a pretest to measure knowledge and confidence in the management of eclampsia, shoulder dystocia, postpartum hemorrhage and vacuum-assisted vaginal delivery. They then attended a simulation workshop and immediately completed a posttest. Residents completed the same posttests 4 and 12 months later, and attending physicians completed the posttest at 12 months. Physicians participated in the same simulation workshop 1 year later and then completed a final posttest. Scores were compared using paired t-tests. Results Physicians demonstrated improved knowledge and comfort immediately after simulation. Residents maintained this improvement at 1 year. Attending physicians remained more comfortable managing these scenarios up to 1 year later; however, knowledge retention diminished with time. Repeating the simulation after 1 year brought additional improvement to physicians. Conclusion Simulation training can result in short-term and contribute to long-term improvement in objective measures of knowledge and comfort level in managing uncommon but critical obstetrical events. Repeat exposure to simulation training after 1 year can yield additional benefits. PMID:22191668

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

    OpenAIRE

    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.

  9. Grave's Disease and Primary Biliary Cirrhosis-An Unusual and Challenging Association.

    Science.gov (United States)

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2014-03-01

    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.

  10. Aorto-iliac occlusive disease in the different population groups ...

    African Journals Online (AJOL)

    Background. It has previously been accepted that atherosclerotic disease is uncommon among blacks worldv.ride; however, recent studies have increasingly reported atherosclerotic disease in this group. Study design. Prospective study of hospital patients with aorta-iliac occlusive disease presenting to the vascUlar ...

  11. Characterization of Salmonella enterica Ituri isolated from diseased ...

    African Journals Online (AJOL)

    Salmonella enterica Ituri is an uncommon serotype associated with poultry disease. One of the serotype isolated from a poultry disease in Nigeria was characterized by serotyping and screening for the presence of Salmonella genomic island 1(SGI1) as a possible factor responsible for its involvement in a poultry disease ...

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

    Directory of Open Access Journals (Sweden)

    Fareedi Mukram Ali

    2016-01-01

    Full Text Available 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.

  13. [An uncommon cause of dyspnea in children. Plexiform neurofibroma of the larynx].

    Science.gov (United States)

    Moussali, N; Belmoukari, S; Elmahfoudi, H; Elbenna, N; Abdelouafi, A; Gharbi, A

    2013-06-01

    Plexiform neurofibroma is a rare benign tumor developed from cells of the sheath of Schwann peripheral nervous system often associated with neurofibromatosis type 1 or Von Recklinghausen disease. Laryngeal involvement in neurofibromatosis is rare and usually presents with obstructive respiratory symptoms. Imaging including CT and MRI provides the diagnosis as well as the staging of this lesion, whose treatment is primarily surgical. We report the case of a plexiform neurofibroma of the larynx found in a 4-year-old child revealing a mass completely obstructing the laryngeal vestibule. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  14. An Uncommon Severe Case of Pulmonary Hypertension - From Genetic Testing to Benefits of Home Anticoagulation Monitoring

    Directory of Open Access Journals (Sweden)

    Varga Andreea

    2016-12-01

    Full Text Available A 62 year-old caucasian male was admitted in our pulmonary hypertension expert center with initial diagnosis of pulmonary veno-occlusive disease for validation and specific treatment approach. Routine examinations revealed no apparent cause of pulmonary hypertension. Patient was referred for a thorax contrast enhanced multi-slice computed tomography which revealed extensive bilateral thrombi in pulmonary lower lobe arteries, pleading for chronic post embolic lesions. A right heart catheterization and pulmonary angiography confirmed the diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH. Following the local regulations, the patient underwent thrombophilia screening including molecular genetic testing, with positive findings for heterozygous for VCORK1 -1639G>A gene single nucleotide polymorphism, PAI-1 4G/5G and factor II G20210A gene. With heterozygous genetic profile of 3 mutations he has a genetic predisposition for developing a thrombophilic disease which could be involved in the etiology of CTEPH. Familial screening was extended to descendants; the unique son was tested with positive results for the same three genes. Supportive pulmonary hypertension drug therapy was initiated together with patient self-monitoring management of oral anticoagulation therapy. For optimal control of targeted anticoagulation due to a very high risk of thrombotic state the patient used a point-of-care device (CoaguChek®XS System, Roche Diagnostics for coagulation self-monitoring.

  15. October 2012 pulmonary case of the month: hempotypsis from an uncommon cause

    Directory of Open Access Journals (Sweden)

    Wesselius LJ

    2012-10-01

    Full Text Available No abstract available. Article truncated at 150 words. History of Present IllnessA 39 year old woman is seen with a history of cough intermittently productive of small amounts of blood or blood-tinged sputum for 4 months. She reports no other respiratory symptoms and has otherwise felt well. PMH, FH and SHThere was no significant PMH and no prior history of lung disease. Her father has a history of Parkinson’s disease and osteosarcoma. She is a nonsmoker, does not drink alcohol, and has never abused drugs. She has 2 children and is engaged to be remarried. Physical ExaminationHer physical examination is normal. Chest X-rayHer chest x-ray is below (Figure 1. Figure 1. Panel A: Frontal chest radiography. Panel B: Lateral chest radiography.Laboratory EvaluationHemoglobin was 13.2 g/dL and WBC was 8400 cells/μL with a normal differential. Urinanalysis was unremarkable. Which of the following statements regarding hemoptysis is or are true?1.A normal chest …

  16. Common and uncommon features of focal splenic lesions on contrast-enhanced ultrasound: a pictorial review

    Energy Technology Data Exchange (ETDEWEB)

    Zavariz, Julia D., E-mail: julia.zavariz@hc.fm.usp.br [Universidade de São Paulo (HC/FMUSP), São Paulo, SP (Brazil). Faculdade de Medicina. Hospital das Clínicas; Konstantatou, Eleni; Deganello Annamaria; Bosanac, Diana; Huang, Dean Y.; Sellars, Maria E.; Sidhu, Paul S. [Department of Radiology, King’s College Hospital, Denmark Hill, London (United Kingdom)

    2017-11-15

    The characterization of focal splenic lesions by ultrasound can be quite challenging. The recent introduction of contrast-enhanced ultrasound (CEUS) has come to play a valuable role in the field of imaging splenic pathologies, offering the possibility of an ionizing radiation-free investigation. Because CEUS has been incorporated into everyday clinical practice, malignant diseases such as focal lymphomatous infiltration, metastatic deposits, benign cysts, traumatic fractures, and hemangiomas can now be accurately depicted and characterized without the need for further imaging. More specifically, splenic traumatic fractures do not require additional imaging by computed tomography (with ionizing radiation exposure) for follow-up, because splenic fractures and their complications are safely imaged with CEUS. In the new era of CEUS, more patients benefit from radiation-free investigation of splenic pathologies with high diagnostic accuracy. (author)

  17. Pancreatic neuroendocrine tumour (PNET): Staging accuracy of MDCT and its diagnostic performance for the differentiation of PNET with uncommon CT findings from pancreatic adenocarcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hoon; Lee, Jeong Min; Han, Joon Koo; Choi, Byung-Ihn [Seoul National University Hospital, Department of Radiology, 101 Daehangno, Jongno-gu, Seoul (Korea, Republic of); Seoul National University College of Medicine, Institute of Radiation Medicine, Seoul (Korea, Republic of); Eun, Hyo Won [Yonsei University College of Medicine, Department of Radiology, Severance Hospital, Seodaemun-ku, Seoul (Korea, Republic of); Kim, Young Jae [Soonchunhyang University Hospital, Department of Radiology, 657 Hannam-Dong, Youngsan-Ku, Seoul (Korea, Republic of)

    2016-05-15

    To investigate staging accuracy of multidetector CT (MDCT) for pancreatic neuroendocrine tumour (PNET) and diagnostic performance for differentiation of PNET from pancreatic adenocarcinoma. We included 109 patients with surgically proven PNET (NETG1 = 66, NETG2 = 31, NEC = 12) who underwent MDCT. Two reviewers assessed stage and presence of predefined CT findings. We analysed the relationship between CT findings and tumour grade. Using PNETs with uncommon findings, we also estimated the possibility of PNET or adenocarcinoma. Accuracy for T stage was 85-88 % and N-metastasis was 83-89 %. Common findings included well circumscribed, homogeneously enhanced, hypervascular mass, common in lower grade tumours (p < 0.05). Uncommon findings included ill-defined, heterogeneously enhanced, hypovascular mass and duct dilation, common in higher grade tumours (p < 0.05). Using 31 PNETs with uncommon findings, diagnostic performance for differentiation from adenocarcinoma was 0.760-0.806. Duct dilatation was an independent predictor for adenocarcinoma (Exp(B) = 4.569). PNETs with uncommon findings were associated with significantly worse survival versus PNET with common findings (62.7 vs. 95.7 months, p < 0.001). MDCT is useful for preoperative evaluation of PNET; it not only accurately depicts the tumour stage but also prediction of tumour grade, because uncommon findings were more common in higher grade tumours. (orig.)

  18. The International Network of Obstetric Survey Systems (INOSS): benefits of multi-country studies of severe and uncommon maternal morbidities.

    Science.gov (United States)

    Knight, Marian

    2014-02-01

    The International Network of Obstetric Survey Systems (INOSS) is a multi-country collaboration formed to facilitate studies of uncommon and severe complications of pregnancy and childbirth. Collaborations such as INOSS offer many benefits in the study of rare complications. The use of uniform case definitions, common datasets, specifically collected detailed data and prospectively agreed comparative and combined analyses all add to the validity of studies and their utility to guide policy and clinical practice and hence improve the quality of care. Such multi-national collaborations allow for the conduct of robust studies less subject to many of the biases attributed to typical observational studies. For very rare conditions such collaborations may provide the only route to providing high quality evidence to guide practice. Clinicians and researchers conducting studies into rare and severe complications should consider working through a network such as INOSS to maximize the value of their research. © 2013 Nordic Federation of Societies of Obstetrics and Gynecology.

  19. Ameloblastic Fibroodontoma: Uncommon Case Presentation in a 6-Year-Old Child with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Anshad Mohamed Abdulla

    2017-01-01

    Full Text Available Ameloblastic fibroodontoma is a benign mixed odontogenic neoplasm considered in patients with asymptomatic swelling and unerupted teeth that exhibit histologic features between ameloblastic fibroma and complex odontoma. Radiographically, this lesion appears as radiolucency admixed with focal radio opaque masses of irregular shapes and sizes. This lesion is confirmed by the presence of proliferating odontogenic epithelium, ectomesenchyme, and dental hard tissue formation on pathological analysis supplementing clinical and radiographic findings. As this tumour is less commonly seen in routine clinical practice, ameloblastic fibroodontoma with detailed orofacial features and periodic approach to its diagnosis is discussed. This paper reports a case of ameloblastic fibroodontoma of the mandible in a 6-year-old male patient with an uncommon case presentation and review of the literature.

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

    Directory of Open Access Journals (Sweden)

    Richard A. Schatz MD

    2015-04-01

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

  1. Splenic Abscess: An Uncommon Entity with Potentially Life-Threatening Evolution

    Directory of Open Access Journals (Sweden)

    Mei-Chun Lee

    2018-01-01

    Full Text Available Background/Purpose. Splenic abscess is rare with potentially life-threatening evolution. The aim of this study is to review the clinical features, microbiological etiologies, treatment, and outcomes of patients with splenic abscess. Methods. We reviewed the admitted patients with suspected splenic abscess and made the diagnosis of splenic abscess. The clinical characteristics, underlying diseases, treatment course, organism spectra, abscess number and size, therapeutic methods, and clinical outcome at a tertiary medical center in Taiwan over a period of 5 years were analyzed. Results. Of 16 patients with splenic abscess, the male to female ratio was 1 : 1. Common presentations were fever (11 patients, 68.7%, diffuse abdominal pain (6 patients, 37.5%, left upper quadrant pain or tenderness (6 patients, 37.5%, and left-sided pleural effusions (8 patients, 50%. Antimicrobial therapy was administered in all patients. Fourteen (87.5% patients recovered under medical treatment. One (6.2% patient underwent splenectomy, four (25% patients performed percutaneous drainage of their splenic abscess, and 11 (68.7% patients received antimicrobial therapy alone. Conclusion. We noted that mortality may be more related to patients with underlying immunodeficiency. Patients with splenic abscesses receiving antimicrobial therapy alone were in a relatively high proportion and got a good prognosis especially in patients with small and multiple abscesses.

  2. Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review

    Directory of Open Access Journals (Sweden)

    Nader Salama

    2016-08-01

    Full Text Available Background: Kallmann syndrome (Kal S is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. Case: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation. The patient reported also anosmia combined with loss of hearing ability. A diagnostic work-up identified the presence of Kal S associated with sensorineural hearing loss. Administration of gonadotrophins regained the erection and a viable-sperm containing ejaculation. Conclusion: Lack of erection and ejaculation are important components of delayed puberty which could lead to diagnosis of Kal S. The existence of a hearing impairment in the reported patient makes the recommendation to screen the hearing ability in Kal S of utmost importance

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

    Science.gov (United States)

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

    2013-05-01

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

  4. Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

    Energy Technology Data Exchange (ETDEWEB)

    Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

    2017-06-15

    Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

  5. Spontaneous Spleen Rupture in a Teenager: An Uncommon Cause of Acute Abdomen

    Directory of Open Access Journals (Sweden)

    Verroiotou Maria

    2013-01-01

    Full Text Available Spontaneous spleen rupture is a rare complication of infectious diseases and it can become a potentially life-threatening condition if not diagnosed in time. A 17-year-old Greek female presented to the ER due to acute abdominal pain, mainly of the left upper quadrant. She had no recent report of trauma. The patient was pale, her blood pressure was 90/70 mmHg, and her pulse was 120 b/min. Clinical examination of the abdomen revealed muscle contraction and resistance. The patient was submitted to an ultrasound of the upper abdomen and to a CT scanning of the abdomen that revealed an extended intraperitoneal hemorrhage due to spleen rupture. Due to the patient’s hemodynamic instability, she was taken to the operation room and splenectomy was performed. Following a series of laboratory examinations, the patient was diagnosed to be positive for current cytomegalovirus infection. The postoperative course was uneventful, and in a two year follow-up the patient is symptom-free. Spontaneous spleen rupture due to Cytomegalovirus infection is a rare clinical entity, described in few case reports in the world literature and should always be taken into consideration in differential diagnosis of acute abdomen, especially in adolescents with no recent report of trauma.

  6. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

    Science.gov (United States)

    Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent

    2016-03-22

    Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS). Our test cohort consisted of 11 DNA samples, all with known mutations and/or non pathogenic SNPs in two of the tested genes. We then used the same technique to analyse samples from a prospective cohort of 40 patients. Multiplex amplification and sequencing were performed using AmpliSeq protocol on the Ion Torrent PGM (Life Technologies). We identified causative mutations in 17 out of the 40 patients (43%). Four patients showed biallelic mutations in the ERCC6(CSB) gene, five in the ERCC8(CSA) gene: most of them had classical CS features but some had very mild and incomplete phenotypes. A small cohort of 4 unrelated classic XP patients from the Basque country (Northern Spain) revealed a common splicing mutation in POLH (XP-variant), demonstrating a new founder effect in this population. Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. Our study confirms that NGS is an efficient technique for the analysis of NER-related disorders on a molecular level. It is particularly useful for phenotypes with combined features or unusually mild symptoms. Targeted NGS used in conjunction with DNA repair functional tests and precise clinical evaluation permits rapid and cost-effective diagnosis in patients with NER-defects.

  7. Atypical disease phenotypes in pediatric ulcerative colitis

    DEFF Research Database (Denmark)

    Levine, Arie; de Bie, Charlotte I; Turner, Dan

    2013-01-01

    Definitive diagnosis of pediatric ulcerative colitis (UC) may be particularly challenging since isolated colitis with overlapping features is common in pediatric Crohn's disease (CD), while atypical phenotypes of UC are not uncommon. The Paris classification allows more accurate phenotyping...... of atypical inflammatory bowel disease (IBD) patients. Our aim was to identify the prevalence of atypical disease patterns in new-onset pediatric UC using the Paris classification....

  8. Characterization of Salmonella enterica Ituri isolated from diseased ...

    African Journals Online (AJOL)

    User

    2013-04-17

    Apr 17, 2013 ... Salmonella enterica Ituri is an uncommon serotype associated with poultry disease. One of the serotype isolated from a poultry disease in Nigeria was characterized by serotyping and screening for the presence of Salmonella genomic island 1(SGI1) as a possible factor responsible for its involvement.

  9. Granulomatous cystitis in chronic granulomatous disease: Ultrasound diagnosis

    International Nuclear Information System (INIS)

    Hassel, D.R.; Glasier, C.M.; McConnell, J.R.; Arkansas Children's Hospital, Little Rock

    1987-01-01

    Chronic granulomatous disease (CGD) is a fatal hereditary disease of childhood characterized by chronic recurrent bacterial infections. Involvement of the genitourinary tract is uncommon. We report a child with CGD with granulomatous cystitis demonstrated by both ultrasound and computed tomography. (orig.)

  10. Haemorrhage - the main presenting feature of diverticular disease of ...

    African Journals Online (AJOL)

    Haemqrrhage is one of the less common presentations of diverticular disease. This retrospective 5 year study of 23 patients has identified it as the main presentation (74%) among South African blacks in whom the disease is uncommon, but emerging as a clinical problem. Women constituted a statistically significant ...

  11. Disease: H01647 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01647 Subacute thyroiditis; Subacute granulomatous thyroiditis; De Quervain thyroiditis Subacute thyroidit...is (SAT), also called subacute granulomatous or de Quervain thyroiditis, is a spont... ... Karachalios GN, Amantos K, Kanakis KV, Deliousis A, Karachaliou IG, Zacharof AK ... TITLE ... Subacute thyroiditis...aneously remitting, painful, inflammatory disease of the thyroid gland, which is considered the most common cause of painful thyroidi...tis. It is an uncommon but important cause of fever of u

  12. Comprehensive update of dalbavancin activity when tested against uncommonly isolated streptococci, Corynebacterium spp., Listeria monocytogenes, and Micrococcus spp. (1357 strains).

    Science.gov (United States)

    Jones, Ronald N; Stilwell, Matthew G

    2013-06-01

    Dalbavancin is an investigational lipoglycopeptide having an extended serum elimination half-life allowing once-weekly dosing. Data from testing 1357 strains of uncommonly isolated species expand the dalbavancin spectrum details as follows (MIC50/90): β-haemolytic streptococcal serogroups C, F, and G (≤0.03/≤0.03 μg/mL), 7 viridans group of streptococci (≤0.03/≤0.03-0.06 μg/mL), 5 Corynebacterium spp. (0.06/0.12 μg/mL), Listeria monocytogenes (0.06/0.12 μg/mL), and Micrococcus spp. (≤0.03/≤0.03 μg/mL). Among all reported isolates, 99.8% of tested strains were inhibited at dalbavancin MIC values at ≤0.12 μg/mL. Dalbavancin remains very potent against rarer Gram-positive pathogens, using in vitro test experience with organisms cultured through 2011. Copyright © 2013 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. The Uncommon Core

    Science.gov (United States)

    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…

  15. UNCOMMON SENSORY METHODOLOGIES

    Directory of Open Access Journals (Sweden)

    Vladimír Vietoris

    2015-02-01

    Full Text Available Sensory science is the young but the rapidly developing field of the food industry. Actually, the great emphasis is given to the production of rapid techniques of data collection, the difference between consumers and trained panel is obscured and the role of sensory methodologists is to prepare the ways for evaluation, by which a lay panel (consumers can achieve identical results as a trained panel. Currently, there are several conventional methods of sensory evaluation of food (ISO standards, but more sensory laboratories are developing methodologies that are not strict enough in the selection of evaluators, their mechanism is easily understandable and the results are easily interpretable. This paper deals with mapping of marginal methods used in sensory evaluation of food (new types of profiles, CATA, TDS, napping.

  16. Hydrated disease of bone

    International Nuclear Information System (INIS)

    Mishwani, A.H.; Ahmed, M.; Anwar, S.D.

    2003-01-01

    A case of primary hydatid disease of the right femur is reported that presented with pathological fracture and was diagnosed at the time of exploration for biopsy. The patient was treated by removal of all cysts, irrigation with colloidal solution, bone grafting and immobilization of the fracture followed by four cycles of oral Albendazole. Eosinophilia and serological tests reverted to normal but the patient died due to acute myocardial infarction six months later. This uncommon condition should be considered in the differential diagnosis of pathological fractures, bone pain or osteolytic lesions, especially in patients of rural and farmer background.(author)

  17. A FIVE-YEAR HISTOPATHOLOGICAL REVIEW OF CNS TUMOURS IN A TERTIARY CENTRE WITH EMPHASIS ON DIAGNOSTIC ASPECTS OF UNCOMMON TUMOURS

    Directory of Open Access Journals (Sweden)

    Premalatha Pidakala

    2016-06-01

    Full Text Available BACKGROUND Tumours of central nervous system (CNS are of varied histogenesis and show divergent lines of differentiation and morphological features. These tumours show specific predilection for age and sex groups, more commonly than of tumours of other systems. Though tumours of glial tissue are more common, other tumours of neural, ependymal and meningeal origin are not uncommon. Metastatic disease is the common encounter in elderly. Tumour diagnosis is not always straight forward as many non-neoplastic lesions and reactive proliferations mimic tumours. Immunohistochemistry may help in problematic cases and thus can be used as an adjuvant tool in the diagnosis of such cases in addition to the routine histopathological staining methods. An accurate histological diagnosis is of extreme importance in these sites as exact diagnosis helps in proper management and favourable clinical outcome. MATERIAL & METHODS This study is on a retrospective and prospective basis in our institution from January 2011 to January, 2016. Our institute is a tertiary care center attached to a medical college catering to the needs of a rural based population. During this period, a total of 717 central nervous system tumour specimens were received and diagnosed based on examination of Haematoxylin and Eosin stained sections of formalin fixed and paraffin embedded specimens. Immunohistochemical markers (IHC were applied in selective cases for an accurate diagnosis and a number of rare cases were diagnosed based on morphology and IHC marker studies. RESULTS Age and sex incidence and anatomic distribution of various tumours were studied. In adults, meningiomas occurred most frequently in the present study followed by nerve sheath tumours, astrocytomas, metastatic deposits, glioblastomas and pituitary adenomas. Embryonal tumours occurred frequently in children. Other rare tumours identified are amyloidogenic pituitary adenoma, central neurocytoma, glioneuronal tumour with

  18. Parkinson’s Disease and Cryptogenic Epilepsy

    Directory of Open Access Journals (Sweden)

    Andre Y. Son

    2016-01-01

    Full Text Available Epilepsy is an uncommon comorbidity of Parkinson’s disease (PD and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85 who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  19. Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe.

    Directory of Open Access Journals (Sweden)

    Anna Olivieri

    Full Text Available 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.

  20. Campylobacter jejuni, an uncommon cause of splenic abscess diagnosed by 16S rRNA gene sequencing

    Directory of Open Access Journals (Sweden)

    Piseth Seng

    2014-12-01

    Full Text Available Splenic abscess is a rare disease that primarily occurs in patients with splenic trauma, endocarditis, sickle cell anemia, or other diseases that compromise the immune system. This report describes a culture-negative splenic abscess in an immunocompetent patient caused by Campylobacter jejuni, as determined by 16S rRNA gene sequencing.

  1. Transsphenoidal surgery in Cushing disease: The challenging microadenoma (Local experience

    Directory of Open Access Journals (Sweden)

    Zakaria Wael K.

    2018-03-01

    Full Text Available Background: Cushing disease is uncommon challenging disease. The adenomas are usually small in size in most case making the disease diagnosis and management is sometimes difficult. In some cases, the tumor cannot be identified on imaging studies and in many cases the adenoma is eccentric in location adding more difficulties to the trans-sphenoid approach for excision of such tricky tumors.

  2. Hydatid disease: A rare cause of fracture nonunion

    Directory of Open Access Journals (Sweden)

    Divya Aggarwal

    2017-01-01

    Full Text Available Hydatid disease is an infrequent parasitic infestation caused by cestode, most commonly, Echinococcus granulosus. Bone involvement is distinctly uncommon. We would like to share our experience of a rare case of hydatid disease of femur in a 24-year-old male who presented with nonunion of subtrochanteric fracture. Histopathology showed typical lamellated wall and dagger-shaped hooklets. In view of its rarity, hydatid disease often remains an unsuspected infection of the bone.

  3. Intracerebral abscess: A complication of severe cystic fibrosis lung disease

    OpenAIRE

    Fenton, Mark E; Cockcroft, Donald W; Gjevre, John A

    2008-01-01

    Intracerebral abscess is an uncommon complication of severe cystic fibrosis lung disease. The present report describes a case of fatal multiple intracerebral abscesses in a patient with a severely bronchiectatic, nonfunctioning right lung and chronic low-grade infection. The patient was previously turned down for pneumonectomy. Intracerebral abscess in cystic fibrosis and the potential role of pneumonectomy in the present patient are discussed.

  4. PYOMYOSITIS IN SICKLE-CELL DISEASE - AN UNEXPECTED DIAGNOSIS

    NARCIS (Netherlands)

    SMID, WM; BREUKELMAN, F; KONINGS, JG; DAENEN, S

    Pyomyositis is a pyogenic infection of muscle, leading to abscess formation. Pyomyositis is frequent in tropical areas but uncommon in areas with a temperate climate [4]; therefore, diagnosis can be difficult and can be delayed [6]. Sickle cell disease (SCD) can be complicated by vascular occlusion

  5. Childhood acquired heart disease in Nigeria: an echocardiographic ...

    African Journals Online (AJOL)

    Introduction: Acquired heart diseases (AHD) are not uncommon in children. The current multi-center study aims to provide a more representative data of AHD in Nigeria. Methods: Over 42 months, children referred for echocardiographic evaluation who had confirmed AHD in three centers in Nigeria were recruited. The data ...

  6. Polycystic Kidney Disease In Pregnancy In A Nigerian Woman ...

    African Journals Online (AJOL)

    Adult Polycystic Kidney disease (ADPKD) is a known but uncommon cause of haematuria in pregnancy in this environment. Other causes include, haemaglobinopathies, calculi, pyelonephritis, schistosomiasis, haemangiomata and neoplasms. Although ADPKD is the commonest single gene disorder of man affecting both ...

  7. Pulmonary arteriovenous fistulae associated with Rendu-Osler-Weber disease: report of two cases and review of the literature

    International Nuclear Information System (INIS)

    Souza, Ricardo Pires de; Setubal, Roger; Soares, Ademir Humberto; Gomes, Marcio Rogerio Alcala; Mayo, Suzete Varela

    1996-01-01

    Pulmonary arteriovenous fistula (PAVF) is an uncommon disease with approximately 500 cases report in the literature and its association with Rendu-Osler-Weber (ROW) disease is well established. This study relates two cases of PAVF associated with ROW disease and proceeds a literature review with particularly emphasis on imaging diagnosis modalities used nowadays. (author). 14 refs., 6 figs

  8. Amyand's hernia masquerading inguinal abscess complicated with appendico-cutaeneous fistula in an infant with Hirschsprung's disease

    Directory of Open Access Journals (Sweden)

    Ruzaimie Noor

    2017-06-01

    Full Text Available A normal or diseased vermiform appendix located inside the inguinal hernia is called Amyand's hernia (AH. The incidence of appendicitis in Amyand's hernia is rare. The appendicitis per se is uncommon disease in infancy. We reported an extremely rare case of undiagnosed right Amyand's hernia mimicking inguinal abscess complicated with appendico-cutaneous fistula in total colonic Hirschsprung's Disease.

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

    Science.gov (United States)

    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

  10. Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

    Science.gov (United States)

    Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of

  11. Hydatid cyst of testis: An unusual presentation of hydatid disease - case report and review of literature

    Directory of Open Access Journals (Sweden)

    Baldev Singh

    2001-01-01

    Full Text Available Hvdatid disease is a parasitic disease usually caused by Echinococcus granulosus. It usually presents with liver involvement and uncommonly lungs and rarely other organs are involved. A rare case of hydatid testis is reported that was provisionally diagnosed as testicular tumor.

  12. Acromegaly: A rare disease?

    Directory of Open Access Journals (Sweden)

    Oscar D. Bruno

    2018-04-01

    Full Text Available Acromegaly is generally considered a benign and uncommon disease. However, some recent data bring support to the idea that it is more frequent than previously thought. Besides, acromegaly can significantly shorten the length of life due to its cardiovascular and metabolic complications. Since its clinical signs are insidiously progressive for many years, there is a considerable delay in its detection. Usually, many different specialists have been consulted before reaching diagnosis of acromegaly. Those specialists include cardiologists, pulmonologists, dentists, rheumatologists, and diabetes specialists. Possible means to achieve earlier detection are based on increasing awareness of doctors and the public in general. In this paper, the author analyzes the factors related to delayed diagnosis and the potential ways to ameliorate awareness of the disease with particular attention to screening procedures.

  13. Graves′ disease allied with multiple pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Brahim Housni

    2013-01-01

    Full Text Available 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.

  14. Uncommon presentation of cryptogenic organizing pneumonia with miliary pattern in the thorax; Ungewoehnliche Manifestation einer kryptogen organisierenden Pneumonie mit miliarem Verschattungsmuster im Thorax

    Energy Technology Data Exchange (ETDEWEB)

    Langen, H.J.; Biewener, C. [Missionsaerztliche Klinik, Radiologische Abteilung, Wuerzburg (Germany); Ruediger, T. [Universitaet Wuerzburg, Pathologisches Institut, Wuerzburg (Germany); Jany, B. [Missionsaerztliche Klinik, Abteilung fuer Innere Medizin, Wuerzburg (Germany)

    2008-03-15

    A 28-year-old female with worsening dyspnea showed miliary nodules of 2 mm in diameter on chest X-ray and high-resolution CT (HRCT). Histological evaluation and clinical outcome revealed an uncommon presentation of cryptogenic organizing pneumonia. (orig.) [German] Bei einer 28-jaehrigen Patientin mit zunehmender Dyspnoe wurden auf der Thoraxroentgenaufnahme und in der hochaufloesenden CT (HRCT) homogen verteilte monomorphe miliare Fleckschatten von ca. 2 mm Durchmesser nachgewiesen. Die histologische Sicherung und der klinische Verlauf ergaben eine kryptogen organisierende Pneumonie, die sich bildmorphologisch ungewoehnlicherweise nur mit miliaren Knoetchen manifestierte. (orig.)

  15. Extramammary Paget's disease: role of radiation therapy

    International Nuclear Information System (INIS)

    Guerrieri, M.; Back, M.F.

    2002-01-01

    Extra mammary Paget's disease (EMPD) is an uncommon premalignant skin condition that has been traditionally managed with surgery. A report of long-standing Paget's disease with transformation to invasive adenocarcinoma definitively managed with radiation therapy is presented. A review of cases of extramammary Paget's disease treated with radiation therapy is discussed. The use of radiation therapy should be considered in selected cases, as these studies demonstrate acceptable rates of local control when used as an adjunct to surgery, or as a definitive treatment modality. Copyright (2002) Blackwell Science Pty Ltd

  16. Uncommon presentation of CAPD-related peritonitis with unusual organism: Kocuria kristinae. Case report and review of the literature

    OpenAIRE

    BARUTCU ATAS, Dilek; ARIKAN, Hakki; AYKENT, Basar; ASICIOGLU, Ebru; VELIOGLU, Arzu; TUGLULAR, Serhan; OZENER, Cetin

    2017-01-01

    Kocuria kristinae is a gram-positive coccus of Micrococcaceae family. Kocuria kristinae inhabits the skin and mucous membranes. It can cause opportunistic infections in patients with indwelling devices and severe underlying diseases. We describe here a case of acute peritonitis caused by Kocuria kristinae in a patient on continuous ambulatory peritoneal dialysis (CAPD). Additionally, a review of other reported CAPD related peritonitis by Kocuria kristinae is provid...

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

    Science.gov (United States)

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

    2016-01-01

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

  18. Paediatric cyclical Cushing's disease due to corticotroph cell hyperplasia.

    LENUS (Irish Health Repository)

    Noctor, E

    2015-06-01

    Cushing\\'s disease is very rare in the paediatric population. Although uncommon, corticotroph hyperplasia causing Cushing\\'s syndrome has been described in the adult population, but appears to be extremely rare in children. Likewise, cyclical cortisol hypersecretion, while accounting for 15 % of adult cases of Cushing\\'s disease, has only rarely been described in the paediatric population. Here, we describe a very rare case of a 13-year old boy with cyclical cortisol hypersecretion secondary to corticotroph cell hyperplasia.

  19. Immunologically mediated oral diseases.

    Science.gov (United States)

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

    2015-04-01

    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.

  20. Immunologically mediated oral diseases

    Directory of Open Access Journals (Sweden)

    Sudha Jimson

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    Sowa, Michał; Ślepokura, Katarzyna; Matczak-Jon, Ewa

    2014-01-01

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

  2. Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

    Science.gov (United States)

    Murphy, D L; Sims, K; Eisenhofer, G; Greenberg, B D; George, T; Berlin, F; Zametkin, A; Ernst, M; Breakefield, X O

    1998-01-01

    Lack of monoamine oxidase A (MAO-A) due to either Xp chromosomal deletions or alterations in the coding sequence of the gene for this enzyme are associated with marked changes in monoamine metabolism and appear to be associated with variable cognitive deficits and behavioral changes in humans and in transgenic mice. In mice, some of the most marked behavioral changes are ameliorated by pharmacologically-induced reductions in serotonin synthesis during early development, raising the question of possible therapeutic interventions in humans with MAO deficiency states. At the present time, only one multi-generational family and a few other individuals with marked MAO-A deficiency states have been identified and studied in detail. Although MAO deficiency states associated with Xp chromosomal deletions were identified by distinct symptoms (including blindness in infancy) produced by the contiguous Norrie disease gene, the primarily behavioral phenotype of individuals with the MAO mutation is less obvious. This paper reports a sequential research design and preliminary results from screening several hundred volunteers in the general population and from putative high-risk groups for possible MAO deficiency states. These preliminary results suggest that marked MAO deficiency states are very rare.

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

    Science.gov (United States)

    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.

  4. The role of epidemiological cutoff values (ECVs/ECOFFs) in antifungal susceptibility testing and interpretation for uncommon yeasts and moulds.

    Science.gov (United States)

    Espinel-Ingroff, Ana; Turnidge, John

    2016-01-01

    The role of antimicrobial susceptibility testing is to aid in selecting the best agent for the treatment of bacterial and fungal diseases. This has been best achieved by the setting of breakpoints by Clinical Laboratory Standards Institute (CLSI) for prevalent Candida spp. versus anidulafungin, caspofungin, micafungin, fluconazole, and voriconazole. The European Committee on Antimicrobial Susceptibility Testing (EUCAST) also has set breakpoints for prevalent and common Candida and Aspergillus species versus amphotericin B, itraconazole, and posaconazole. Recently, another interpretive category, the epidemiological cut off value, could aid in the early identification of strains with acquired resistance mechanisms. CLSI has postulated that epidemiological cut off values may, with due caution, aid physicians in managing mycosis by species where breakpoints are not available. This review provides (1) the criteria and statistical approach to establishing and estimating epidemiological cut off values (ECVs), (2) the role of the epidemiological cut off value in establishing breakpoints, (3) the potential role of epidemiological cut off values in clinical practice, (4) and the wide range of CLSI-based epidemiological cut off values reported in the literature as well as EUCAST and Sensititre Yeast One-ECVs. Additionally, we provide MIC/MEC (minimal inhibitory concentrations/minimum effective concentrations) ranges/modes of each pooled distribution used for epidemiological cut off value calculation. We focus on the epidemiological cut off value, the new interpretive endpoint that will identify the non-wild type strains (defined as potentially harboring resistance mechanisms). However, we emphasize that epidemiological cut off values will not categorize a fungal isolate as susceptible or resistant as breakpoints do, because the former do not account for the pharmacology of the antifungal agent or the findings from clinical outcome studies. Copyright © 2016 Asociación Espa

  5. Multifocal osteogenic sarcoma in Paget's disease

    International Nuclear Information System (INIS)

    Vuillemin-Bodaghi, V.; Parlier-Cuau, C.; Laredo, J.D.; Cywiner-Golenzer, C.; Quillard, A.; Kaplan, G.

    2000-01-01

    The most serious complication of Paget's disease is sarcomatous degeneration of pagetic bone. Multifocal sarcomatous degeneration occurs mainly in polyostotic Paget's disease. Multifocal Paget's sarcoma is uncommon and can arise in any site. We report two cases of synchronous multifocal sarcomatous degeneration. The two patients were elderly women (aged 77 and 86 years, respectively) who developed sarcomatous lesions concomitantly, in the first case report in left ilium, left tibia, and first lumbar vertebra and in the second case report in the skull, right ilium, and sacrum. Whether these cases are due to the simultaneous development of several primaries or to metastases from a single primary remains unclear. (orig.)

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

    Science.gov (United States)

    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. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  7. Paradoxical euthyroid hormone profile in a case of Graves' disease with cardiac failure

    Directory of Open Access Journals (Sweden)

    Kapoor Aditya

    2011-07-01

    Full Text Available Abstract Cardiac failure is an uncommon complication of juvenile hyperthyroidism. We describe an adolescent boy with Graves' disease who developed manifestations of heart failure while on antithyroid medications. There was no evidence of any underlying cardiac disease. He had paradoxical euthyroid hormone profile which rose to hyperthyroid range when the manifestations of the cardiac failure subsided. The case highlights several unusual features of Graves' disease.

  8. Castleman's disease associated with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

    Science.gov (United States)

    Jeon, Chul Jin; Kim, Mi Jin; Lee, Jong Seung; Lee, Ji Hyuk; Kong, Doo-Sik; Shin, Hyung Jin; Suh, Yeon Lim; Kim, Kyoung Mee; Choe, Yon Ho

    2010-11-01

    Castleman's disease (CD) is a rare nonneoplastic lymphoproliferative disorder of unknown etiology. It is characterized by enlarged hyperplastic lymph nodes, usually presenting as a localized mass. Although an intracranial location is very uncommon, it should be considered in the differential diagnosis of a chordoid meningioma. We describe a pediatric case of CD with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

  9. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

    NARCIS (Netherlands)

    Butterworth, A.S.; Braund, P.S.; Hardwick, R.J.; Saleheen, D.; Peden, J.F.; Soranzo, N.; Chambers, J.C.; Kleber, M.E.; Keating, B.; Qasim, A.; Klopp, N.; Erdmann, J.; Basart, H.; Baumert, J.H.; Bezzina, C.R.; Boehm, B.O.; Brocheton, J.; Bugert, P.; Cambien, F.; Collins, R.; Couper, D.; Jong, J.S. de; Diemert, P.; Ejebe, K.; Elbers, C.C.; Elliott, P.; Fornage, M.; Frossard, P.; Garner, S.; Hunt, S.E.; Kastelein, J.J.; Klungel, O.H.; Kluter, H.; Koch, K.; Konig, I.R.; Kooner, A.S.; Liu, K.; McPherson, R.; Musameh, M.D.; Musani, S.; Papanicolaou, G.; Peters, A.; Peters, B.J.; Potter, S.; Psaty, B.M.; Rasheed, A.; Scott, J.; Seedorf, U.; Sehmi, J.S.; Sotoodehnia, N.; Stark, K.; Stephens, J.; Schoot, C.E. van der; Schouw, Y.T. van der; Harst, P. van der; Vasan, R.S.; Wilde, A.A.; Willenborg, C.; Winkelmann, B.R.; Zaidi, M.; Zhang, W.; Ziegler, A.; Koenig, W.; Matz, W.; Trip, M.D.; Reilly, M.P.; Kathiresan, S.; Schunkert, H.; Hamsten, A.; Hall, A.S.; Kooner, J.S.; Thompson, S.G.; Thompson, J.R.; Watkins, H.; Danesh, J.; Barnes, T.; Rafelt, S.; Codd, V.; Bruinsma, N.; Dekker, L.R.; Henriques, J.P.; Koch, K.T.; Winter, R.J. de; Alings, M.; Allaart, C.F.; Gorgels, A.P.; Verheugt, F.W.A.; Mueller, M.; Meisinger, C.; DerOhannessian, S.; Mehta, N.N.; Ferguson, J.; Hakonarson, H.; Matthai, W.; Wilensky, R.; Hopewell, J.C.; Parish, S.; Linksted, P.; Notman, J.; Gonzalez, H.; Young, A.; Ostley, T.; Munday, A.; Goodwin, N.; Verdon, V.; Shah, S.; Edwards, C.; Mathews, C.; Gunter, R.; Benham, J.; Davies, C.; Cobb, M.; Cobb, L.; Crowther, J.; Richards, A.; Silver, M.; Tochlin, S.; Mozley, S.; Clark, S.; Radley, M.; Kourellias, K.; Olsson, P.; Barlera, S.; Tognoni, G.; Rust, S.; Assmann, G.; Heath, S.; Zelenika, D.; Gut, I.; Green, F.; Farrall, M.; Goel, A.; Ongen, H.; Franzosi, M.G.; Lathrop, M.; Clarke, R.; Aly, A.; Anner, K.; Bjorklund, K.; Blomgren, G.; Cederschiold, B.; Danell-Toverud, K.; Eriksson, P.; Grundstedt, U.; Heinonen, M.; Hellenius, M.L.; Hooft, F. van 't; Husman, K.; Lagercrantz, J.; Larsson, A.; Larsson, M.; Mossfeldt, M.; Malarstig, A.; Olsson, G.; Sabater-Lleal, M.; Sennblad, B.; Silveira, A.; Strawbridge, R.; Soderholm, B.; Ohrvik, J.; Zaman, K.S.; Mallick, N.H.; Azhar, M.; Samad, A.; Ishaq, M.; Shah, N.; Samuel, M.; Kathiresan, S.C.; Assimes, T.L.; Holm, H.; Preuss, M.; Stewart, A.F.; Barbalic, M.; Gieger, C.; Absher, D.; Aherrahrou, Z.; Allayee, H.; Altshuler, D.; Anand, S.; Andersen, K.; Anderson, J.L.; Ardissino, D.; Ball, S.G.; Balmforth, A.J.; Barnes, T.A.; Becker, L.C.; Becker, D.M.; Berger, K.; Bis, J.C.; Boekholdt, S.M.; Boerwinkle, E.; Brown, M.J.; Burnett, M.S.; Buysschaert, I.; Carlquist, J.F.; Chen, L.; Davies, R.W.; Dedoussis, G.; Dehghan, A.; Demissie, S.; Devaney, J.; Do, R.; Doering, A.; El Mokhtari, N.E.; Ellis, S.G.; Elosua, R.; Engert, J.C.; Epstein, S.; Faire, U. de; Fischer, M.; Folsom, A.R.; Freyer, J.; Gigante, B.; Girelli, D.; Gretarsdottir, S.; Gudnason, V.; Gulcher, J.R.; Tennstedt, S.; Halperin, E.; Hammond, N.; Hazen, S.L.; Hofman, A.; Horne, B.D.; Illig, T.; Iribarren, C.; Jones, G.T.; Jukema, J.W.; Kaiser, M.A.; Kaplan, L.M.; Khaw, K.T.; Knowles, J.W.; Kolovou, G.; Kong, A.; Laaksonen, R.; Lambrechts, D.; Leander, K.; Li, M.; Lieb, W.; Lettre, G.; Loley, C.; Lotery, A.J.; Mannucci, P.M.; Martinelli, N.; McKeown, P.P.; Meitinger, T.; Melander, O.; Merlini, P.A.; Mooser, V.; Morgan, T.; Muhleisen T.W., .; Muhlestein, J.B.; Musunuru, K.; Nahrstaedt, J.; Nothen, Markus; Olivieri, O.; Peyvandi, F.; Patel, R.S.; Patterson, C.C.; Qu, L.; Quyyumi, A.A.; Rader, D.J.; Rallidis, L.S.; Rice, C.; Roosendaal, F.R.; Rubin, D.; Salomaa, V.; Sampietro, M.L.; Sandhu, M.S.; Schadt, E.; Schafer, A.; Schillert, A.; Schreiber, S.; Schrezenmeir, J.; Schwartz, S.M.; Siscovick, D.S.; Sivananthan, M.; Sivapalaratnam, S.; Smith, A.V.; Smith, T.B.; Snoep, J.D.; Spertus, J.A.; Stefansson, K.; Stirrups, K.; Stoll, M.; Tang, W.H.; Thorgeirsson, G.; Thorleifsson, G.; Tomaszewski, M.; Uitterlinden, A.G.; Rij, A.M. van; Voight, B.F.; Wareham, N.J.; AWells, G.; Wichmann, H.E.; Witteman, J.C.; Wright, B.J.; Ye, S.; Cupples, L.A.; Quertermous, T.; Marz, W.; Blankenberg, S.; Thorsteinsdottir, U.; Roberts, R.; O'Donnell, C.J.; Onland-Moret, N.C.; Setten, J. van; Bakker, P.I. de; Verschuren, W.M.; Boer, J.M.; Wijmenga, C.; Hofker, M.H.; Maitland-van der Zee, A.H.; Boer, A. de; Grobbee, D.E.; Attwood, T.; Belz, S.; Cooper, J.; Crisp-Hihn, A.; Deloukas, P.; Foad, N.; Goodall, A.H.; Gracey, J.; Gray, E.; Gwilliams, R.; Heimerl, S.; Hengstenberg, C.; Jolley, J.; Krishnan, U.; Lloyd-Jones, H.; Lugauer, I.; Lundmark, P.; Maouche, S.; Moore, J.S.; Muir, D.; Murray, E.; Nelson, C.P.; Neudert, J.; Niblett, D.; O'Leary, K.; Ouwehand, W.H.; Pollard, H.; Rankin, A.; Rice, C.M.; Sager, H.; Samani, N.J.; Sambrook, J.; Schmitz, G.; Scholz, M.; Schroeder, L.; Syvannen, A.C.; Wallace, C.

    2011-01-01

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants.

  10. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  11. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease

    Directory of Open Access Journals (Sweden)

    Bhupesh Kumar

    2014-01-01

    Full Text Available Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  12. Neonatal Graves' Disease with Maternal Hypothyroidism.

    Science.gov (United States)

    Akangire, Gangaram; Cuna, Alain; Lachica, Charisse; Fischer, Ryan; Raman, Sripriya; Sampath, Venkatesh

    2017-07-01

    Neonatal Graves' disease presenting as conjugated hyperbilirubinemia is a diagnostic challenge because the differential includes a gamut of liver and systemic diseases. We present a unique case of neonatal Graves' disease in a premature infant with conjugated hyperbilirubinemia born to a mother with hypothyroidism during pregnancy and remote history of Graves' disease. Infant was treated with a combination of methimazole, propranolol, and potassium iodide for 4 weeks. Thyroid function improved after 8 weeks of treatment with full recovery of thyroid function, disappearance of thyroid-stimulating antibodies, and resolution of failure to thrive and conjugated hyperbilirubinemia. This case provides several clinical vignettes as it is a rare, severe, presentation of an uncommon neonatal disease, signs, symptoms, and clinical history presented a diagnostic challenge for neonatologists and endocrinologists, normal newborn screen was misleading, and yet timely treatment led to a full recovery.

  13. Hemolytic disease of the newborn- anti c antibody induced hemolysis.

    Science.gov (United States)

    Murki, Srinivas; Kandraju, Hemasree; Devi, Surekha A

    2012-02-01

    Hemolytic disease in the newborn, as a cause of early jaundice, is not uncommon. This is mostly due to Rh (D), ABO incompatibility and rarely due to other minor blood group incompatibility. The authors report two cases of Rh anti c isoimmunization presenting as significant early neonatal jaundice within the 20 h of life. Both the babies were treated with intensive phototherapy. One baby underwent exchange transfusion and the other required packed cell transfusion for anemia.

  14. Kikuchi Fujimoto Disease

    Directory of Open Access Journals (Sweden)

    Al-Bishri Jamal

    2012-01-01

    Full Text Available In order to determine the clinical significance of Kikuchi Fujimoto Disease (histiocytic necrotizing lymhadenitis and to review the literature available on this condition, we selected the Medicine research papers in English language published between the years 1972 to 2011. Kikuchi Fujimoto Disease (KFD is an uncommon, cosmopolitan, benign and self-limiting condition with higher Japanese and Asian prevalence. Most of the sufferers of KFD are young people who seek treatment because of having acute tender cervical lymphadenopathy, low grade fever and night sweats. Coagulative necrosis with ample karyorrhetic debris in paracortical areas of the involved lymph nodes is the characteristic histologic feature of KFD. Diagnosing KFD is crucial as it can be mistaken for malignant lymphoma and SLE. KFD was put forth first time in 1972 by Dr. Masahiro Kikuchi and by Funimoto as lymphadenitis with reticular proliferation, histiocytes and abundant nuclear debris. It is a rare benign condition of lymph nodes and most of the clinicians and pathologists are unfamiliar with it. KFD is self-limiting disease (within 1 to 4 months, however, patients should be followed up regularly as it may crop up again or progress to SLE. Analgesics and antipyretics help to ameliorate the symptoms.

  15. Central neurocytomas of uncommon locations: report of two cases Localizações incomuns do neurocitoma central: relato de dois casos

    Directory of Open Access Journals (Sweden)

    Francinaldo Lobato Gomes

    2006-12-01

    Full Text Available We report two patients with central neurocytomas at an uncommon location in the brain. The first, a 58-year-old man presenting with signs and symptoms of increased intracranial pressure, had a tumor located at the pineal region. The second, a 21-year-old woman with tumor in the aqueductal region had worsening migraine-like headaches and diplopia. Both patients had obstructive hydrocephalus treated by neuroendoscopic third ventriculostomy and biopsy of the tumors. No additional treatment was done. We conclude that neurocytomas should be considered in the differential diagnosis of tumors located in the pineal and aqueductal regions.Relatamos dois pacientes com neurocitoma central com localização incomum no sistema nervoso central. O primeiro, 58 anos, masculino, apresentava sinais e sintomas de hipertensão intracraniana, tinha um tumor na região da pineal. O segundo, feminino, 21 anos, tinha um tumor na região do aqueduto de Sylvius e apresentava cefaléia migranosa progressiva e diplopia. Ambos apresentavam hidrocefalia obstrutiva tratada com terceiroventriculostomia endoscópica e biópsia da lesão. Não foi feito tratamento adicional. Concluimos que os neurocitomas devem ser considerados no diagnóstico diferencial de tumores localizados na região da pineal e do aqueduto.

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

    Directory of Open Access Journals (Sweden)

    Ian Morrissey

    Full Text Available 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.

  17. Penetrating chest trauma caused by a blank cartridge actuated rubber ball projectile: case presentation and ballistic investigation of an uncommon weapon type.

    Science.gov (United States)

    Frank, Matthias; Peters, Dieter; Klemm, Wolfram; Grossjohann, Rico; Ekkernkamp, Axel; Bockholdt, Britta; Seifert, Julia

    2017-09-01

    Recently, an increasing number of an uncommon weapon type based on a caliber 6-mm Flobert blank cartridge actuated revolver which discharges 10-mm-diameter rubber ball projectiles has been confiscated by police authorities following criminal offenses. A recent trauma case presenting with a penetrating chest injury occasioned an investigation into the basic ballistic parameters of this type of weapon. Kinetic energy E of the test projectiles was calculated between 5.8 and 12.5 J. Energy density ED of the test projectiles was close to or higher than the threshold energy density of human skin. It can be concluded that penetrating skin injuries due to free-flying rubber ball projectiles discharged at close range cannot be ruled out. However, in case of a contact shot, the main injury potential of this weapon type must be attributed to the high energy density of the muzzle gas jet which may, similar to well-known gas or alarm weapons, cause life-threatening or even lethal injuries.

  18. Detection of uncommon G3P[3] rotavirus A (RVA) strain in rat possessing a human RVA-like VP6 and a novel NSP2 genotype.

    Science.gov (United States)

    Ianiro, Giovanni; Di Bartolo, Ilaria; De Sabato, Luca; Pampiglione, Guglielmo; Ruggeri, Franco M; Ostanello, Fabio

    2017-09-01

    Rotavirus is one of the leading causes of acute gastroenteritis in infants and young children. RVAs infect not only humans but also a wide range of mammals including rats, which represent a reservoir of several other zoonotic pathogens. Due to the segmented nature of the RVA genome, animal RVA strains can easily adapt to the human host by reassortment with co-infecting human viruses. This study aims to detect and characterize RVA in the intestinal content of Italian sinantropic rats (Rattus rattus). Out of 40 samples examined following molecular approach, one resulted positive for RVA. The molecular characterization of VP1-4, 6 and 7, and NSP1-5 genes by sequencing revealed the genomic constellation G3-P[3]-I1-R11-C11-M10-A22-N18-T14-E18-H13. This uncommon genomic combination includes: the VP1-4,VP7, the NSP1, 3, 4 and 5 gene segments, closely related to those of RVA from rodents, the N18 novel genotype established for the NSP2 gene segment and the human Wa-like VP6 gene, suggesting interspecies reassortment. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. [Chronic diarrhea with uncommon etiology].

    Science.gov (United States)

    Gil Borrás, R; Juan Vidal, O; Talavera Encinas, M I; Bixquert Jiménez, M

    2005-03-01

    Chronic diarrhea is a common syndrome. An etiological diagnosis is often reached through clinical history, physical examination and simple tests. In some cases, when the etiology is not found, the syndrome is called functional diarrhea, even though established criteria are often not fulfilled. We present the case of a patient with diarrhea for several months. The most common causes were ruled out through clinical history, physical examination, radiographic studies and laboratory tests, and the patient was diagnosed with functional diarrhea. Three months later, the patient presented a neck mass, and biopsy revealed medullary carcinoma of the thyroid. A review of recommendations for the systematic evaluation of chronic diarrhea is presented. A general approach should include careful history taking characteristics of diarrhea (onset, associated symptoms, epidemiological factors, iatrogenic causes such as laxative ingestion), a thorough physical examination with special attention to the anorectal region, and routine laboratory tests (complete blood count and serum chemistry). In addition, stool analysis including electrolytes (fecal osmotic gap), leukocytes, fecal occult blood, excess stool fat and laxative screening can yield important objective information to classify the diarrhea as: osmotic (osmotic gaps > 125 mOsm/Kg), secretory (osmotic gaps diarrhea described above. A systematic approach to the evaluation of chronic diarrhea is warranted. Medullary thyroid carcinoma and other endocrine syndromes causing chronic diarrhea are very rare. Measurement of serum peptide concentrations should only be performed when clinical presentation and findings in stool or radiographic studies suggest this etiology.

  20. Uncommon presentation of pulmonary aspergilloma

    Directory of Open Access Journals (Sweden)

    Baradkar V

    2009-01-01

    Full Text Available Cases of pulmonary aspergilloma without any predisposing factors are rarely reported. Clinical presentation varies from case to case. Here, we report a case of pulmonary aspergilloma in a 60-year-old male patient who was admitted to the Intensive Respiratory Care Unit with spontaneous pneumothorax. The patient had a history of dyspnea on exertion since 9 months and mild haemoptysis since the last 6 months. A computerised tomographic scan of the lungs showed a lesion in the left main bronchus along with obstructive emphysema of the right lung, moderate pneumothorax and mediastinal emphysema. Bronchoscopy was performed and the biopsy samples were processed for histopathological examination and culture on Sabouraud′s dextrose agar, which yielded growth of Aspergillus flavus. Repeat sputum samples also yielded the growth of A. flavus . The patient responded to intravenous liposomaamphotericin B and intercostal drainage.

  1. Uncommon vancomycin: induced side effects

    Directory of Open Access Journals (Sweden)

    Rocha Jaime Luís Lopes

    2002-01-01

    Full Text Available Vancomycin has been used with increased frequency during the past 15 years and the most common toxicity with this drug is the "red man syndrome". Other adverse effects include neutropenia, fever, phlebitis, nephrotoxicity, ototoxicity, thrombocytopenia, interstitial nephritis, lacrimation, linear IgA bullous dermatosis, necrotizing cutaneous vasculitis and toxic epidermal necrolysis. Only two cases of vancomycin-induced Stevens-Johnson syndrome and one case of pancytopenia have been reported in the medical literature. The treatment for both situations is based on cessation of the vancomycin therapy; in cases of Stevens-Johnson syndrome, antihistamine and/or steroid agents can be used. This article reports a case of pancytopenia and a case of erythema major associated with neutropenia.

  2. Uncommon, undeclared oesophageal foreign bodies

    African Journals Online (AJOL)

    2011-05-11

    May 11, 2011 ... presented with a sudden onset of total dysphagia and history of ingestion of foreign bodies was not volunteered by any despite direct questioning. Plain radiograph of the neck and chest in either case did not reveal presence of foreign body. Both were successfully removed through rigid oesophagoscopy.

  3. Metastatic breast disease from cutaneous malignant melanoma.

    Science.gov (United States)

    Moschetta, Marco; Telegrafo, Michele; Lucarelli, Nicola Maria; Martino, Gianluigi; Rella, Leonarda; Stabile Ianora, Amato Antonio; Angelelli, Giuseppe

    2014-01-01

    Malignant melanoma is one of the most rapidly increasing cancer in the world. Breast metastases from melanoma are uncommon but could reflect a widespread disease. We report a case of malignant widespread melanoma presenting with bilateral breast nodules in a 39 year-old pre-menopausal Caucasian woman with an history of cutaneous melanoma of the trunk. Breast clinical examination revealed the presence of a hard and mobile lump located on the left breast. Ultrasound detected two bilateral nodules corresponding to oval opacities with well-defined edges and without calcifications or architectural distortion on mammography. Fine needle aspiration cytology performed on both breast nodules confirmed that the breast lesions were metastases from primary cutaneous malignant melanoma. A total-body CT examination detected brain, lung and abdominal lymph nodes metastases. The breast represents an uncommon site of metastatic disease from extra-mammary tumors. Imaging features of breast metastases from melanoma usually do not allow a differential diagnosis with breast primary tumors. Breast metastases may be asymptomatic or palpable as dense and well-circumscribed nodules. Breast metastases indicate a widespread disease and should lead to avoid aggressive surgical procedures because of the poor prognosis of patients affected by metastatic melanoma. The detection of bilateral breast metastases from melanoma is highly suggestive of metastatic multi-organ disease and could be useful to address the therapeutic approach. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  4. Face of the giant panda sign in Wilson disease

    Directory of Open Access Journals (Sweden)

    Sumit Chakraborty

    2013-08-01

    Full Text Available Wilson disease usually presents with neurologic or hepatic manifestations. Magnetic resonance imaging (MRI of the brain is very informative in diagnosiing of this disease, especially in patients with neurological features. High T2 signal intensity in the corpus striatum is the most commonly encountered MRI finding. The 'face of the giant panda' sign is seen on axial T2-weighted MRI, and results from abnormal signal intensities in the midbrain. Though uncommon, the sign is considered as the pathognomonic MRI sign of Wilson disease.

  5. Coronary artery disease in patients undergoing cardiac surgery for non-coronary lesions in a tertiary care centre

    Directory of Open Access Journals (Sweden)

    Cholenahally Nanjappa Manjunath

    2014-01-01

    Conclusion: The overall prevalence of CAD among patients undergoing non-coronary cardiac surgery is 8.7%. Coronary artery disease is relatively uncommon in patients with rheumatic VHD (4.9%, while its prevalence is highest in DAVD (23.4%.

  6. Chromatographic and Spectroscopic Identification and Recognition of Natural Dyes, Uncommon Dyestuff Components, and Mordants: Case Study of a 16th Century Carpet with Chintamani Motifs.

    Science.gov (United States)

    Otłowska, Olga; Ślebioda, Marek; Kot-Wasik, Agata; Karczewski, Jakub; Śliwka-Kaszyńska, Magdalena

    2018-02-06

    A multi-tool analytical practice was used for the characterisation of a 16th century carpet manufactured in Cairo. A mild extraction method with hydrofluoric acid has been evaluated in order to isolate intact flavonoids and their glycosides, anthraquinones, tannins, and indigoids from fibre samples. High-performance liquid chromatography coupled to spectroscopic and mass spectrometric detectors was used for the identification of possible marker compounds with special attention paid to natural dyes present in the historical samples. Weld, young fustic, and soluble redwood dye were identified as the dye sources in yellow thread samples. Based on the developed method, it was possible to establish that red fibres were coloured with lac dye, whereas green fibre shades were obtained with indigo and weld. Tannin-containing plant material in combination with indigo and weld were used to obtain the brown hue of the thread. Hyphenation of high-performance liquid chromatography (HPLC) with quadrupole time-of-flight mass spectrometry (QTOF MS) and triple-quadrupole mass spectrometry (QqQ MS) enabled us to recognise four uncommon and thus-far unknown dye components that were also found in the historical samples. These compounds probably represent a unique fingerprint of dyed threads manufactured in a Turkish workshop. Scanning electron microscopy with energy-dispersive X-ray detector (SEM-EDS) and Fourier transform infrared spectroscopy (FT-IR) were used for the identification and characterisation of substrates and mordants present in the historical carpet. Carbon and oxygen were detected in large quantities as a part of the wool protein. The presence of aluminium, iron, and calcium indicated their usage as mordants. Trace amounts of copper, silica, and magnesium might originate from the contaminants. FT-IR analysis showed bands characteristic for woollen fibres and SEM micrographs defined the structure of the wool.

  7. Chromatographic and Spectroscopic Identification and Recognition of Natural Dyes, Uncommon Dyestuff Components, and Mordants: Case Study of a 16th Century Carpet with Chintamani Motifs

    Directory of Open Access Journals (Sweden)

    Olga Otłowska

    2018-02-01

    Full Text Available A multi-tool analytical practice was used for the characterisation of a 16th century carpet manufactured in Cairo. A mild extraction method with hydrofluoric acid has been evaluated in order to isolate intact flavonoids and their glycosides, anthraquinones, tannins, and indigoids from fibre samples. High-performance liquid chromatography coupled to spectroscopic and mass spectrometric detectors was used for the identification of possible marker compounds with special attention paid to natural dyes present in the historical samples. Weld, young fustic, and soluble redwood dye were identified as the dye sources in yellow thread samples. Based on the developed method, it was possible to establish that red fibres were coloured with lac dye, whereas green fibre shades were obtained with indigo and weld. Tannin-containing plant material in combination with indigo and weld were used to obtain the brown hue of the thread. Hyphenation of high-performance liquid chromatography (HPLC with quadrupole time-of-flight mass spectrometry (QTOF MS and triple-quadrupole mass spectrometry (QqQ MS enabled us to recognise four uncommon and thus-far unknown dye components that were also found in the historical samples. These compounds probably represent a unique fingerprint of dyed threads manufactured in a Turkish workshop. Scanning electron microscopy with energy-dispersive X-ray detector (SEM-EDS and Fourier transform infrared spectroscopy (FT-IR were used for the identification and characterisation of substrates and mordants present in the historical carpet. Carbon and oxygen were detected in large quantities as a part of the wool protein. The presence of aluminium, iron, and calcium indicated their usage as mordants. Trace amounts of copper, silica, and magnesium might originate from the contaminants. FT-IR analysis showed bands characteristic for woollen fibres and SEM micrographs defined the structure of the wool.

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

    Directory of Open Access Journals (Sweden)

    Mette Koefoed

    Full Text Available 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.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.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.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.

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

    Science.gov (United States)

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

    2016-01-01

    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. 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. 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. 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.

  10. Post-Prandial Plasma Glucose Less Than or Equal to 70 mg/dL Is Not Uncommon in Young Japanese Women.

    Science.gov (United States)

    Tsuboi, Ayaka; Takeuchi, Mika; Kitaoka, Kaori; Minato, Satomi; Kurata, Miki; Kazumi, Tsutomu; Fukuo, Keisuke

    2017-08-01

    Post-breakfast/post-challenge plasma glucose (PG) concentrations were studied less in young normal weight Japanese women. We addressed these issues. Two separate groups of female collegiate athletes and female untrained students underwent either a standardized meal test or a standard 75-g oral glucose tolerance test, but not both. Frequency of women whose post-breakfast/post-load PG fell to 70 mg/dL or lower (termed as low glycemia) was compared between athletes and non-athletes, who also underwent measurements of serum adipokines, markers of insulin resistance and inflammation and dual-energy X-ray absorptiometry. Insulin secretion, insulin sensitivity/resistance and serum adipokines were compared between women with and without post-breakfast low glycemia. The same comparison was done between women whose post-breakfast PG returned to levels below the fasting PG and women whose post-breakfast PG never fell below the fasting PG. There was no difference between athletes and non-athletes in frequency of post-breakfast low glycemia (47% (8/17) and 44% (8/18)) and post-challenge low glycemia (24% (12/50) and 23% (27/118)). As compared to seven women whose post-breakfast PG never fell below the fasting PG, 28 women whose post-breakfast PG returned to levels below the fasting PG had higher meal-induced insulin responses (283 ± 366 vs. 89 ± 36 µU/mg, P = 0.014). However, two groups did not differ in body composition, markers of insulin resistance and serum adiponectin. No significant difference was also observed in any of these variables between women with and without post-breakfast low glycemia. Post-prandial PG ≤ 70 mg/dL is not uncommon in young normal weight Japanese women and may not be a pathological condition. The underlying mechanisms for this finding need further exploration.

  11. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease

    DEFF Research Database (Denmark)

    Husby, S; Koletzko, S; Korponay-Szabó, I R

    2012-01-01

    Diagnostic criteria for coeliac disease (CD) from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) were published in 1990. Since then, the autoantigen in CD, tissue transglutaminase, has been identified; the perception of CD has changed from that of a rather...... uncommon enteropathy to a common multiorgan disease strongly dependent on the haplotypes human leukocyte antigen (HLA)-DQ2 and HLA-DQ8; and CD-specific antibody tests have improved....

  12. A rare association of Castleman′s disease and nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    I Tazi

    2011-01-01

    Full Text Available Castleman′s Disease (CD is an uncommon and poorly understood disorder of lymph node hyperplasia of unknown etiology. This entity belongs to the atypical lymphoproliferative disorders, a heterogeneous group of diseases characterized by a hyperplastic reactive process involving the immune system. The association of the nephrotic syndrome and CD is extremely rare and their interrelation remains enigmatic. We report a case of CD of the hyaline-vascular type with unicentric localization complicated by nephrotic syndrome.

  13. Echinococcosis: an Occupational Disease

    Directory of Open Access Journals (Sweden)

    M Farahmand

    2010-03-01

    Full Text Available Hydatidosis is a common infestation caused by Echinococcus spp. Solitary hydatid cyst of the lung is not uncommon but coexistence of two or more pulmonary cysts are less common. These cysts may drain into the bronchial tree or very rarely into the pleural cavity which causes a poor outcome. Certain people such as slaughters, tanners, stockbreeders, shepherds, butchers, veterinarians and all whose job makes them to work closely with animals are at higher risk of the infection and developing echinococcosis. Herein, we present a 14-year-old shepherd who developed severe chest pain and hydropneumothorax following a minor trauma to his chest. He had two pulmonary hydatid cysts, one of which drained to the left pleural cavity and caused the symptoms. Another cyst was complicated during his hospital course. The patient was treated surgically, received albendazole and discharged home uneventfully. A high index of suspicion is of utmost importance for the correct diagnosis and treatment of hydatid disease in hyperendemic areas and in those whose occupation might put them at a higher risk of contraction of hydatid disease.

  14. A report of three cases of untreated Graves' disease associated with pancytopenia in Malaysia.

    Science.gov (United States)

    Rafhati, Abdullah Noor; See, Chee Keong; Hoo, Fan Kee; Badrulnizam, Long Bidin Mohamed

    2014-01-01

    Generally, clinical presentations of Graves' disease range from asymptomatic disease to overt symptomatic hyperthyroidism with heat intolerance, tremor, palpitation, weight loss, and increased appetite. However, atypical presentation of Graves' disease with hematological system involvement, notably pancytopenia, is distinctly uncommon. Hereby, we present and discuss a series of three untreated cases of Graves' disease clinically presented with pancytopenia and the hematological abnormalities that responded well to anti-thyroid treatment. With resolution of the thyrotoxic state, the hematological parameters improved simultaneously. Thus, it is crucial that anti-thyroid treatment be considered in patients with Graves' disease and pancytopenia after a thorough hematological evaluation.

  15. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review

    Directory of Open Access Journals (Sweden)

    Dennis Andrew Buck

    2017-09-01

    cumulative risk of contralateral metachronous testicular cancer of 1.9% versus the seemingly contradictory 5.2% cumulative risk 25 years after the first testicular germ cell tumor. With his second primary (seminoma, he presented with the common retroperitoneal landing zone site, though with an uncommon involvement of the gastrointestinal tract (<1% and rare incidence of involving the duodenum.

  16. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review.

    Science.gov (United States)

    Buck, Dennis Andrew; Smith, Tristan Dean; Montana, Wilbur Nelson

    2017-01-01

    .9% versus the seemingly contradictory 5.2% cumulative risk 25 years after the first testicular germ cell tumor. With his second primary (seminoma), he presented with the common retroperitoneal landing zone site, though with an uncommon involvement of the gastrointestinal tract (<1%) and rare incidence of involving the duodenum.

  17. Cystic lung disease: Achieving a radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Trotman-Dickenson, Beatrice, E-mail: btrotmandickenson@partners.org

    2014-01-15

    Diffuse cystic lung disease represents a diverse group of uncommon disorders with characteristic appearance on high resolution CT imaging. The combination of imaging appearance with clinical features and genetic testing where appropriate permits a confident and accurate diagnosis in the majority of the diseases without recourse for open lung biopsy. The mechanism of cyst development disease is unclear but in some disorders appears to be related to small airways obstruction. These diseases are incurable, with the exception of Langerhans cell histiocytosis which may spontaneously remit or resolve on smoking cessation. Disease progression is unpredictable; in general older patients have a more benign disease, while young patients may progress rapidly to respiratory failure. An understanding of the complications of cystic lung disease and the appearance of disease progression is essential for the management of these patients. A number of these disorders are associated with malignancy, recognition of the potential tumors permits appropriate imaging surveillance. Due to the widespread use of CT, pulmonary cysts are increasingly discovered incidentally in an asymptomatic individual. The diagnostic challenge is to determine whether these cysts represent an early feature of a progressive disease or have no clinical significance. In the elderly population the cysts are unlikely to represent a progressive disease. In individuals <50 years further evaluation is recommended.

  18. Cystic lung disease: Achieving a radiologic diagnosis

    International Nuclear Information System (INIS)

    Trotman-Dickenson, Beatrice

    2014-01-01

    Diffuse cystic lung disease represents a diverse group of uncommon disorders with characteristic appearance on high resolution CT imaging. The combination of imaging appearance with clinical features and genetic testing where appropriate permits a confident and accurate diagnosis in the majority of the diseases without recourse for open lung biopsy. The mechanism of cyst development disease is unclear but in some disorders appears to be related to small airways obstruction. These diseases are incurable, with the exception of Langerhans cell histiocytosis which may spontaneously remit or resolve on smoking cessation. Disease progression is unpredictable; in general older patients have a more benign disease, while young patients may progress rapidly to respiratory failure. An understanding of the complications of cystic lung disease and the appearance of disease progression is essential for the management of these patients. A number of these disorders are associated with malignancy, recognition of the potential tumors permits appropriate imaging surveillance. Due to the widespread use of CT, pulmonary cysts are increasingly discovered incidentally in an asymptomatic individual. The diagnostic challenge is to determine whether these cysts represent an early feature of a progressive disease or have no clinical significance. In the elderly population the cysts are unlikely to represent a progressive disease. In individuals <50 years further evaluation is recommended

  19. Extramammary Paget’s disease of the scrotum

    Directory of Open Access Journals (Sweden)

    Guang-Dar Juang

    2011-07-01

    Full Text Available Extramammary Paget’s disease is an uncommon intra-epidermal malignant neoplasm that arises in area rich in apocrine glands. Common sites of occurrence include the vulva, perianal region, perineum, and scrotum. The lesion may be accompanied by an invasive adenocarcinoma or adenocarcinoma in situ of the apocrine glands. Generally, the prognosis is poor. Herein, we report two cases of extramammary Paget’s disease, one involving the penoscrotal area with bilateral inguinal and pelvic lymph node metastases, the other involving the scrotal area without metastases.

  20. Hydatid disease of the cranium: neuroradiological findings in one case

    International Nuclear Information System (INIS)

    Ruiz, T.; Rivera, A.; Blanco, A.

    1998-01-01

    Hydatid disease is caused by Echinococcus granulosus. The most common locations for hydatid cysts are lung and liver. The central nervous system is involved in only 2% of cases, and these cysts are usually located in the brain parenchyma. Primary involvement of the bones of the skull is very uncommon. We report the case of a child with cranial echinococcosis which presented in the form of an osteolytic lesion with an extradural cyst. This was the unique feature of the disease. The CT and MR findings are described. This presentation has rarely been reported in the literature. (Author) 5 refs

  1. Primary Testicular Carcinoid Tumor presenting as Carcinoid Heart Disease

    Directory of Open Access Journals (Sweden)

    Manjunath L Chikkaraddi

    2015-01-01

    Full Text Available Primary carcinoid tumors of the testis are very rare, and they seldom present with carcinoid syndrome. We report a hereto unreported instance, where a patient with a long-standing testicular mass presented with carcinoid heart disease, an uncommon form of carcinoid syndrome. He presented with symptoms of right heart failure, episodic facial flushing and was found to have severe right-sided valvular heart disease. His urinary 5-hydroxy indole acetic acid level was elevated. He underwent orchidectomy and the histopathology confirmed a testicular carcinoid tumor.

  2. Emerging infectious diseases with cutaneous manifestations: Viral and bacterial infections.

    Science.gov (United States)

    Nawas, Zeena Y; Tong, Yun; Kollipara, Ramya; Peranteau, Andrew J; Woc-Colburn, Laila; Yan, Albert C; Lupi, Omar; Tyring, Stephen K

    2016-07-01

    Given increased international travel, immigration, and climate change, bacterial and viral infections that were once unrecognized or uncommon are being seen more frequently in the Western Hemisphere. A delay in diagnosis and treatment of these diseases can lead to significant patient morbidity and mortality. However, the diagnosis and management of these infections is fraught with a lack of consistency because there is a dearth of dermatology literature on the cutaneous manifestations of these infections. We review the epidemiology, cutaneous manifestations, diagnosis, and management of these emerging bacterial and viral diseases. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  3. Usual interstitial pneumonia in adult-onset still's disease

    International Nuclear Information System (INIS)

    Rodelo, Joaquin; Gonzalez, Luis Alonso; Velasquez, Monica Patricia; Vasquez, Gloria; Uribe, Oscar; Perez, Maria del Pilar; Ramirez, Luis Alberto

    2005-01-01

    Adult-onset still's disease (AOSD) is a multi-system inflammatory disorder of unknown origin, characterized by high spiking fevers, evanescent salmon colored rash, arthralgias or arthritis, hepatospleno-megaly, Iymphadenopathy and sore throat. It is not uncommon for AOSD to involve other organs, such as the liver, the kidney; the bone marrow and less often the lungs. Pulmonary involvement ranges from 30 to 40 % (0 to 53 %), the pulmonary manifestations of AOSD include pleurisy, acute pneumonitis and even the acute respiratory distress syndrome. We present a case of a patient with AOSD who developed an interstitial lung disease and reviewed the literature on it

  4. Sickle cell disease with orbital infarction and epidural hematoma

    International Nuclear Information System (INIS)

    Naran, A.D.; Fontana, L.

    2001-01-01

    Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. (orig.)

  5. Farber's Disease

    Science.gov (United States)

    ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ...

  6. Diagnostic challenges in celiac disease

    Directory of Open Access Journals (Sweden)

    M Haghighat

    2014-04-01

    Full Text Available   1-The most important challenge in diagnosis of celiac disease is not- performing the diagnostic tests in suspected persons. Because of multi-organ damage and multiple manifestations of disease, diagnosis of celiac disease may be delayed. It seems general physicians should be awared about uncommon presentations of disease and indications of celiac tests 2-The second most important challenge is in patients with suspected disease but negative serologic tests. In these cases evaluating of HLA can be useful. 3- The third challenge is in cases with positive serologic tests but negative histopathological findings. There may be false positive serologic response or consumption of gluten before testing. We recommend introduction of gluten for at least 3 mo and re- endoscopy and if diagnosis is equivocal HLA-typing  for DQ8 and  DQ2 should be done. 4-The forth challenge is about performing endoscopy. Based on guideline from ESPGHAN if there are typical clinical manifestations of celiac disease, Anti-TTG more than ten times UPN , positive Anti-EMA and HLA DQ2, performing endoscopy may not be necessary, but many physicians don’t agree with this idea. 5-In people who are genetically predisposed to celiac disease antibody levels may be fluctuating thus endoscopy with biopsy should be done in these patients. 6-In children lower than 2years, Anti- TTG and Anti –EMA have low sensitivity. we recommend Anti-TTG and Anti-DGP in these patients. 7-Resolution of symptoms after gluten free diet is not necessarily a feature of celiac disease. This condition may be seen in patients with IBS or non-celiac gluten sensitivity.  

  7. A case report of symptomatic gallbladder disease in the setting of peritoneal carcinomatosis originating from invasive lobular carcinoma of the breast

    Directory of Open Access Journals (Sweden)

    David Brinkman

    2016-01-01

    Conclusion: Symptomatic gallbladder disease in the setting of peritoneal carcinomatosis secondary to invasive lobular carcinoma is an uncommon presentation to surgeons. A diagnostic laparoscopy is the preferred initial evaluation. If deemed feasible, and if the surgeon has the required experience, a laparoscopic cholecystectomy can be undertaken selectively.

  8. Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece

    NARCIS (Netherlands)

    Raptaki, Maria; Varela, Ioanna; Spanou, Kleopatra; Tzanoudaki, Marianna; Tantou, Sofia; Liatsis, Manolis; Constantinidou, Nikki; Bakoula, Chryssa; Roos, Dirk; Kanariou, Maria

    2013-01-01

    Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and

  9. Zinc absorption in inflammatory bowel disease

    International Nuclear Information System (INIS)

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

    1986-01-01

    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

  10. Endocrine Diseases

    Science.gov (United States)

    ... Syndrome (PCOS) Pregnancy and Thyroid Disease Primary Hyperparathyroidism Prolactinoma Thyroid Tests Turner Syndrome Contact Us The National ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

  11. Extranodal Rosai Dorfman disease in multiple sites: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Shim, Jong Joon; Kim, Ho Kyun; Shim, Jae Chan; Lee, Kyoung Eun; Lee, Ghi Jai; Suh, Jung Ho; Hong, Seong Woo; Lee, Hye Kyung [Seoul Paik Hospital/Inje Univ. College of Medicine, Seoul (Korea, Republic of)

    2012-07-15

    Rosai Dorfman disease involves an abnormal proliferation of histiocytes. This abnormal growth tends to occur within the lymph nodes, with occasional extranodal presentation. Rosai Dorfman disease is a rare disease, and the extranodal cases are even more uncommon. We report a rare case of extranodal Rosai Dorfman disease in multiple sites in a 56 year old male patient. Abdominopelvic CT revealed soft tissue attenuation masses, encasing both the renal pelvis and both ureters, as well as the thoracic vertebra. Following the neck sonography, both submandibular glands had an enlarged honey combed appearance. Although Rosai Dorfman disease is rare, it should be considered as a potential differential diagnosis when multiple sites involving soft tissue attenuation masses are observed with sonogram and CT.

  12. Isolated lacrimal gland involvement in Rosai-Dorfman-Destombes disease

    Directory of Open Access Journals (Sweden)

    Gulwani Hanni

    2008-01-01

    Full Text Available Rosai-Dorfman-Destombes (sinus histiocytosis with massive lymphadenopathy disease is an uncommon disease characterized by benign proliferation of histiocytes, with painless lymph node enlargement and frequent extranodal disease. Orbital involvement occurs in 9-11% of cases. However, isolated Rosai-Dorfman-Destombes disease of the lacrimal gland without any systemic involvement is very rare with only three case reports. We describe here one such young male patient with unilateral lacrimal gland swelling. Excision biopsy revealed almost complete replacement of the lacrimal gland by lymphocytes, plasma cells and large pale histiocytes. The latter exhibited emperipolesis and stained positive for S-100 and CD68 on immunohistochemistry. Patient is well and has no other manifestation or recurrence of the disease during a follow-up of 24 months.

  13. Two Cases of Sternal 'Cold' Lesions on Bone Imaging in the Metastatic Skeletal Disease

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyung Gun; Seo, Bong Kwan; Lee, Hoon Yong; Lee, Myung Chul; Choi, Sung Jae; Kim, Noe Kyeong; Koh, Chang Soon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1983-09-15

    Traditionally, a positive bone scan shows single or multiple areas of increased uptake in them metastatic skeletal disease. The occurrence of 'cold' lytic-like or photon-deficient lesions in bone imaging is probably uncommon. Photon-deficient focus or cold lesion of the sternum was demonstrated on {sup 99m}Tc-MDP bone imaging in 2 individuals with acute myeloid leukemia and primary hepatoma, respectively.

  14. Castleman's disease presenting as a pleural tumor: a case report with CT findings.

    Science.gov (United States)

    Doo, Kyung Won; Kim, Bomi

    2018-02-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

  15. Primary biliary cirrhosis and myopathy: an uncommon association Cirrose biliar primária e miopatia: uma rara associação

    Directory of Open Access Journals (Sweden)

    Bruno Cupertino Migueletto

    1999-10-01

    Full Text Available Primary biliary cirrhosis (PBC is a cholestatic liver disease, which is characterized by a chronic inflammatory destruction of intrahepatic bile ducts. It is a rare disorder whose precise etiology is still to be elucidated. Even though the liver is the principal target of PBC, other organ systems also might be affected. Muscular involvement has rarely been described in this disease, and in the majority of cases, muscular weakness has been interpreted as polymyositis. We report the case of a 48-year-old woman suffering from classic PBC, in association with a myopathy whose histological features are distinct from the cases reported before. We also performed a MEDLINE research for PBC and concomitant muscular diseases.A cirrose biliar primária (CBP é uma doença hepática colestática crônica de etiologia desconhecida e rara. Apesar do principal órgão acometido na CBP ser o fígado, outros órgãos podem também ser afetados. O acometimento muscular raramente tem sido relatado em pacientes com CBP e na maioria destes casos, a fraqueza muscular tem sido interpretada como Polimiosite. Nós relatamos o caso de uma mulher de 48 anos com CBP e miopatia com achados histopatológicos distintos dos casos anteriormente descritos e fizemos uma revisão da literatura sobre o acometimento muscular na CBP.

  16. Chylous ascites in a cheetah (Acinonyx jubatus) with venoocclusive liver disease.

    Science.gov (United States)

    Terrell, Scott P; Fontenot, Deidre K; Miller, Michele A; Weber, Martha A

    2003-12-01

    An 11-yr-old female cheetah (Acinonyx jubatus) was diagnosed clinically with hepatic and renal disease and euthanatized after an extended illness. Postmortem examination revealed 8-10 L of milky white fluid in the abdominal cavity and markedly dilated lymphatic vessels within the intestinal mesentery. The abdominal fluid was a chylous effusion based on the cytologic predominance of lymphocytes and macrophages and comparison of cholesterol and triglyceride levels in the fluid and in serum. Gross and histopathologic lesions in the liver were consistent with a diagnosis of venoocclusive liver disease. Chylous ascites is uncommon with human chronic liver disease and is rarely identified in animals.

  17. Primary extramammary Paget′s disease with extensive skeletal metastases

    Directory of Open Access Journals (Sweden)

    Indukooru Subrayalu Reddy

    2012-01-01

    Full Text Available Extramammary Paget′s disease (EMPD is an uncommon malignancy that is most commonly seen in the vulval area in postmenopausal women. Pruritus is the predominant symptom. The clinical presentation can be so nonspecific that it can be misdiagnosed as an inflammatory or infective condition. We report an elderly male patient with EMPD over the pubic area, which remained asymptomatic for 5 years; he presented with severe low backache of 5 months′ duration. Skin biopsy and immunohistochemistry showed the typical epidermal changes and deep dermal invasion. Positron emission tomography scan revealed involvement of regional lymph nodes as well as extensive skeletal metastases.

  18. Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.

    Science.gov (United States)

    Factor, Stewart A; Molho, Eric S

    2004-01-01

    Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome.

  19. Ribbing disease

    International Nuclear Information System (INIS)

    Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh

    2010-01-01

    Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc

  20. Treatment of Children with Protein – Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition with Limited Human and Technical Resources

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Zeka, Naim; Bejiqi, Hana; Vuqiterna, Armend; Maloku, Arlinda

    2014-01-01

    Background Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It’s relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. Aim of presentation is to describe single centre ...

  1. Plasma Cell Type of Castleman's Disease Involving Renal Parenchyma and Sinus with Cardiac Tamponade: Case Report and Literature Review

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Un; Kim, Suk; Lee, Jun Woo; Lee, Nam Kyung; Jeon, Ung Bae; Ha, Hong Gu; Shin, Dong Hoon [Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan (Korea, Republic of)

    2012-09-15

    Castleman's disease is an uncommon disorder characterized by benign proliferation of the lymphoid tissue that occurs most commonly in the mediastinum. Although unusual locations and manifestations have been reported, involvement of the renal parenchyma and sinus, and moreover, manifestations as cardiac tamponade are extremely rare. Here, we present a rare case of Castleman's disease in the renal parenchyma and sinus that also accompanied cardiac tamponade.

  2. [Thyroid cancer in patients with Grave's Disease].

    Science.gov (United States)

    Mssrouri, R; Benamr, S; Essadel, A; Mdaghri, J; Mohammadine, El H; Lahlou, M-K; Taghy, A; Belmahi, A; Chad, B

    2008-01-01

    To evaluate the incidence of thyroid carcinoma in patients operated on for Graves' disease, to identify criteria which may predict malignancy, and to develop a practical approach to determine the extensiveness of thyroidectomy. Retrospective study of all patients who underwent thyroidectomy for Graves' disease between 1995 and 2005. 547 patients underwent subtotal thyroidectomy for Graves' disease during this period. Post-operative pathology examination revealed six cases of thyroid cancer (1.1%). All six cases had differentiated thyroid carcinoma (papillary carcinoma in 3 cases, follicular carcinoma in 2 cases and papillo-follicular carcinoma in 1 case). The indication for initial thyroidectomy was a palpable thyroid nodule in 3 cases (50%), failure of medical treatment for Grave's disease in 2 cases (33%), and signs of goiter compression in 1 case (17%). Five patients underwent re-operative total thyroidectomy. This study shows that while malignancy in Grave's disease is uncommon, the presence of thyroid nodule(s) in patients with Grave's disease may be considered as an indication for radical surgery. The most adequate radical surgery in this situation is to perform a total thyroidectomy.

  3. Bilateral pleural effusion and interstitial lung disease as unusual manifestations of kikuchi-fujimoto disease: case report and literature review

    Directory of Open Access Journals (Sweden)

    Magdalena Fernandez-Martinez

    2010-11-01

    Full Text Available Abstract Background Kikuchi-Fujimoto's disease (KFD, also called histiocytic necrotizing lymphadenitis, is a rare, idiopathic and self-limited condition usually characterized by cervical lymphadenopathy and fever, most often affecting young patients. Aetiology is unknown. Differential diagnosis includes mainly malignant lymphoma, tuberculous lymphadenitis and systemic lupus erythematosus (SLE, so early diagnosis is crucial. Pleuropulmonary involvement due to isolated KFD has been seldom reported. Case Presentation a 32-year-old man, on treatment for iatrogenic hypothyroidism, was admitted due to high grade fever and painful cervical lymphadenopathies. KFD was diagnosed by lymph node biopsy. Some days after admission the patient got worse, he developed generalized lymphadenopathy, bilateral pleural effusion and interstitial lung disease. All of them resolved with prednisone and after two years of following up he remains asymptomatic and without evidence of any other associated disease. Conclusion Pleural effusion and interstitial lung disease are very uncommon manifestations of KFD. In our experience, treatment with oral prednisone was effective.

  4. Cognitive decline in Parkinson disease

    Science.gov (United States)

    Aarsland, Dag; Creese, Byron; Politis, Marios; Chaudhuri, K. Ray; ffytche, Dominic H.; Weintraub, Daniel; Ballard, Clive

    2017-01-01

    Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD). In recent years, research has focused on the pre-dementia stages of cognitive impairment in PD, including mild cognitive impairment (MCI). Several longitudinal studies have shown that MCI is a harbinger of dementia in PD, although the course is variable, and stabilization of cognition — or even reversal to normal cognition — is not uncommon. In addition to limbic and cortical spread of Lewy pathology, several other mechanisms are likely to contribute to cognitive decline in PD, and a variety of biomarker studies, some using novel structural and functional imaging techniques, have documented in vivo brain changes associated with cognitive impairment. The evidence consistently suggests that low cerebrospinal fluid levels of amyloid-β42, a marker of comorbid Alzheimer disease (AD), predict future cognitive decline and dementia in PD. Emerging genetic evidence indicates that in addition to the APOE*ε4 allele (an established risk factor for AD), GBA mutations and SCNA mutations and triplications are associated with cognitive decline in PD, whereas the findings are mixed for MAPT polymorphisms. Cognitive enhancing medications have some effect in PD dementia, but no convincing evidence that progression from MCI to dementia can be delayed or prevented is available, although cognitive training has shown promising results. PMID:28257128

  5. Cranial MRI in Wilson's disease

    International Nuclear Information System (INIS)

    Prayer, L.; Grimm, G.

    1990-01-01

    Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: Dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition - a proton-electron-dipolar-dipolar-interaction would there for be impossible. (orig.)

  6. Invasive amebiasis and ameboma formation presenting as a rectal mass: An uncommon case of malignant masquerade at a western medical center

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    A 54-year-old man presented with rectal pain and bleeding secondary to ulcerated, necrotic rectal and cecal masses that resembled colorectal carcinoma upon colonoscopy. These masses were later determined to be benign amebomas caused by invasive Entamoeba histolytica, which regressed completely with medical therapy. In Western countries, the occurrence of invasive protozoan infection with formation of amebomas is very rare and can mistakenly masquerade as a neoplasm. Not surprisingly, there have been very few cases reported of this clinical entity within the United States. Moreover, we report a patient that had an extremely rare occurrence of two synchronous lesions, one involving the rectum and the other situated in the cecum. We review the current literature on the pathogenesis of invasive E. Histolytica infection and ameboma formation, as well as management of this rare disease entity at a western medical center.

  7. Apresentações incomuns no diagnóstico por imagem do pseudotumor intraósseo do hemofílico Uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis

    Directory of Open Access Journals (Sweden)

    Marcel Koenigkam Santos

    2009-06-01

    Full Text Available OBJETIVO: Este estudo tem como objetivo descrever apresentações incomuns do pseudotumor do hemofílico no diagnóstico por imagem. MATERIAIS E MÉTODOS: Estudo retrospectivo com avaliação de cinco pseudotumores ósseos do hemofílico em dois pacientes. Os achados de imagem em dois pacientes hemofílicos tipo A foram avaliados em consenso por dois radiologistas musculoesqueléticos. Foram estudados exames de radiografia simples, tomografia computadorizada e ressonância magnética. RESULTADOS: Em uma das lesões analisadas a fase pós-contraste intravenoso da tomografia computadorizada mostrou áreas de reforço heterogêneo e de aspecto sólido no interior da lesão da coxa direita. Este aspecto foi confirmado no exame anatomopatológico da lesão em questão. Outro achado raro foi a identificação de dois pseudotumores intraósseos no úmero, separados por segmento de osso normal. E, por fim, também um pseudotumor do fêmur com extensão para partes moles e transarticular, com conseqüente acometimento da tíbia e patela. CONCLUSÃO: Os achados de diagnóstico por imagem acima descritos não são comumente relatados para os pseudotumores ósseos do hemofílico. É importante que o radiologista tenha conhecimento dessas apresentações mais raras.OBJECTIVE: The present study was aimed at describing uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis. MATERIALS AND METHODS: Retrospective study evaluating five hemophilic pseudotumors in bones of two patients with hemophilia A. Imaging findings were consensually evaluated by two musculoskeletal radiologists. Plain radiography, computed tomography and magnetic resonance imaging studies were analyzed. RESULTS: At contrast-enhanced computed tomography images, one of the lesions on the left thigh was visualized with heterogeneously enhanced solid areas. This finding was later confirmed by anatomopathological study. Another uncommon finding was the identification of

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

    Science.gov (United States)

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

    2016-01-01

    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. 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. 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. 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.

  9. Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

    Science.gov (United States)

    Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

    2017-01-01

    patients withCD in comparison with other categories of IBD. Endoscopic findings and relevant histopathology of biopsy samples in UC showed 65% patient had pan-colitis and 13 % with disease restricted to rectum only whereas in CD 70% patient had disease in ileo-colon and only 10 % had involvement of ileum at the time diagnosis. Patients with UC dominated in our cohort. The most common clinical presentation in UC was bloody diarrhea and rectal bleeding and patients with CDhad abdominal pain and chronic diarrhea as predominant clinical features. Extraintestinal features were uncommon in our cohort. In endoscopic findings, pan-colitis was the mostfrequentfinding in UC and ileo-colonwas common location in CD. IC and UC shared common clinical features and disease location on endoscopy.

  10. Managing acute complications of sickle cell disease in pediatric patients [digest].

    Science.gov (United States)

    Subramaniam, Sathyaseelan; Chao, Jennifer H; Chaudhari, Pradip

    2016-11-22

    Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management. Patients with sickle cell trait generally have a benign course, but are also subject to serious complications. This issue provides a current review of evidence-based management of the most common acute complications of sickle cell disease seen in pediatric patients in the emergency department. [Points & Pearls is a digest of Pediatric Emergency Medicine Practice].

  11. Atrial flutter with spontaneous 1:1 atrioventricular conduction in adults: an uncommon but frequently missed cause for syncope/presyncope.

    Science.gov (United States)

    Turitto, Gioia; Akhrass, Philippe; Leonardi, Marino; Saponieri, Cesare; Sette, Antonella; El-Sherif, Nabil

    2009-01-01

    To compare patients with atrial flutter (AFl) and 1:1 atrioventricular conduction (AVC) with patients with AFl and higher AVC. The characteristics of 19 patients with AFl and 1:1 AVC (group A) were compared with those of 116 consecutive patients with AFl and 2:1 AVC or higher degree AV block (group B). Age, gender, and left ventricular function were similar in the two groups. In group A versus group B, more patients had no structural heart disease (42% vs 17%, P AVC or vice versa was associated with small but definite changes in AFl CL, which showed larger variations in response to sympathetic stimulation. In group A patients who were studied off drugs, the atrial-His interval was not different from group B, but maximal atrial pacing rate with 1:1 AVC was faster. In group A, five patients were misdiagnosed as ventricular tachyarrhythmias, and three with a defibrillator received inappropriate shocks. Four patients had ablation of AVC and six had ablation of AFl circuit. The main difference between groups A and B may be an inherent capacity of the AV node for faster conduction, especially in response to increased sympathetic tone. The latter affects not only AVC but also the AFl CL. One should be aware of the different presentations of AFl with 1:1 AVC to avoid misdiagnosis/mismanagement and to consider the diagnosis in patients with narrow or wide QRS tachycardia and rates above 220/min.

  12. Primary brain lymphoma presenting as Parkinson's disease

    International Nuclear Information System (INIS)

    Sanchez-Guerra, M.; Leno, C.; Berciano, J.; Cerezal, L.; Diez, C.; Figols, J.

    2001-01-01

    Neoplasm is an uncommon cause of a parkinsonian syndrome. We report a woman with primary brain B-cell lymphoma presenting as Parkinson's disease. After 1 year of the illness, CT and MRI showed lesions without mass effect in the basal ganglia and corpus callosum. The patient did not respond to levodopa and right cerebellar and brain-stem signs appeared, which prompted further neuroimaging, showing an increase in size of the lesions and a right cerebellar and pontine mass. Stereotactic biopsy of the basal ganglia showed high-grade B-cell lymphoma. Despite the basal ganglia frequently being involved in lymphoma of the brain, presentation with typical or atypical parkinsonism is exceptional. (orig.)

  13. Liver transplantation in polycystic liver disease

    DEFF Research Database (Denmark)

    Krohn, Paul S; Hillingsø, Jens; Kirkegaard, Preben

    2008-01-01

    OBJECTIVE: Polycystic liver disease (PLD) is a rare, hereditary, benign disorder. Hepatic failure is uncommon and symptoms are caused by mass effects leading to abdominal distension and pain. Liver transplantation (LTX) offers fully curative treatment, but there is still some controversy about...... whether it is a relevant modality considering the absence of liver failure, relative organ shortage, perioperative risks and lifelong immunosuppression. The purpose of this study was to review our experience of LTX for PLD and to compare the survival with the overall survival of patients who underwent LTX...... from 1992 to 2005. MATERIAL AND METHODS: A retrospective study of the journals of 440 patients, who underwent 506 LTXs between 1992 and 2005, showed that 14 patients underwent LTX for PLD. All patients had normal liver function. Three were receiving haemodialysis and thus underwent combined liver...

  14. Prostate Diseases

    Science.gov (United States)

    ... Home › Aging & Health A to Z › Prostate Diseases Font size A A A Print Share Glossary Basic ... body. Approximately 3 million American men have some type of prostate disease. The most common prostate diseases ...

  15. Infectious Diseases

    Science.gov (United States)

    ... But some of them can make you sick. Infectious diseases are diseases that are caused by germs. There ... many different ways that you can get an infectious disease: Through direct contact with a person who is ...

  16. Pick disease

    Science.gov (United States)

    Semantic dementia; Dementia - semantic; Frontotemporal dementia; FTD; Arnold Pick disease; 3R tauopathy ... doctors tell Pick disease apart from Alzheimer disease. (Memory loss is often the main, and earliest, symptom ...

  17. Prion Diseases

    Science.gov (United States)

    ... with facebook share with twitter share with linkedin Prion Diseases Prion diseases are a related group of ... deer and elk. Why Is the Study of Prion Diseases a Priority for NIAID? Much about TSE ...

  18. Periodontal Diseases

    Science.gov (United States)

    ... diseases. The primary research focus was on oral bacteria. Periodontal diseases were thought to begin when chalky white ... tools to target their treatment specifically to the bacteria that trigger periodontal disease. At the same time, because biofilms form ...

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

    Directory of Open Access Journals (Sweden)

    Julie R. Ingelfinger

    2016-03-01

    Full Text Available 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 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 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.

  20. Epstein-Barr virus infection and related hematological diseases.

    Science.gov (United States)

    Sawada, Akihisa

    2016-01-01

    Once the Epstein-Barr virus (EBV) has infected a person, it then latently infects B cells. This latent infection lasts a lifetime. However, EBV can infect T or NK cells (T/NK cells) in rare cases. Therefore, EBV causes various hematological diseases. Among these diseases, CAEBV is regarded as the most problematic because, although it is not particularly uncommon, the diagnostic tests for this disease are not covered by health insurance, a serious illness in the "non-active" periods is lacking, and the appropriate motivation for early initiation of treatment can easily be lost. However, the symptoms may suddenly change; and if the manifestations are resistant when such exacerbation occurs, CAEBC is potentially lethal. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure. Once the diagnosis has been made, earlier treatment initiation, safer bridging to allogeneic HSCT with multi-drug chemotherapy, and then, planned HSCT can be completed more safely and thereby achieve a better outcome.

  1. An unusual cause of cervical lymphadenopathy: Kikuchi-Fujimoto disease

    Directory of Open Access Journals (Sweden)

    Mehmet Uluğ

    2012-03-01

    Full Text Available Kikuchi-Fujimoto disease (KFD, also known as histiocytic necrotizing lymphadenitis, is an uncommon clinical and pathologicalself-limited feature of benign prognosis that may mimic many other diseases diagnosed chiefly in youngadults. The etiology of the disease is unknown although several investigators postulate viral, parasitic and autoimmuneetiologies. The most common symptoms are cervical lymphadenopathy and fever. Diagnosis is usually rendered withexcisional biopsy of lymph nodes and through histopathological findings. Non-steroidal anti-inflammatory drugs areused for the treatment. In this report, two cases of KFD without any associated infectious and/or non-infectious conditionswere presented. J Microbiol Infect Dis 2012; 2(1: 21-25

  2. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic......, metabolic, dermatologic (mucocutaneous), ophthalmologic, hepatobiliary, hematologic, thromboembolic, urinary tract, pulmonary, and pancreatic extraintestinal manifestations related to IBD. Articles were identified through search of the PubMed and Embase databases, the Cochrane Library, and the web sites......', 'thromboembolism', and 'treatment'. The search was performed on English-language reviews, practical guidelines, letters, and editorials. Articles were selected based on their relevance, and additional papers were retrieved from their reference lists. Since some of the diseases discussed are uncommon, valid...

  3. Hydatid disease in childhood: revisited report of an interesting case.

    Science.gov (United States)

    Jairajpuri, Zeeba Shamim; Jetley, Sujata; Hassan, Md Jaseem; Hussain, Musharraf

    2012-10-01

    Hydatid disease is a zoonosis caused by the tapeworm of Echinococcus spp. The disease is widely endemic in many sheep and cattle rearing locales. However, hydatidosis does not remain restricted to endemic geographical locales anymore but rather is a global health concern. It is a major public health burden causing significant morbidity and mortality. Echinococcus granulosus involvement in children has a different pattern than adults. Children of all age groups are susceptible and localization of the disease in the lungs is more commonly seen. Multiple liver cysts in the paediatric age group is relatively uncommon. We report an interesting case of multiple liver cysts in a 5-year old boy which was diagnosed as hydatid cysts on histopathological examination.

  4. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Science.gov (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune bullous skin diseases (ABDs are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ. These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Ernst H. Beutner, Ph.D. and Robert E. Jordon, M.D. confirmed the autoimmune nature of these diseases. Walter F. Lever, M.D. contributed significantly to our understanding of the histopathologic features of these diseases. Walter Lever, M.D. and Ken Hashimoto, M.D. contributed electron microscopic studies of these diseases, especially in pemphigus vulgaris and bullous pemphigoid. In bullous pemphigoid (BP, linear IgA bullous dermatosis, epidermolysis bullosa acquisita (EBA and dermatitis herpetiformis (DH, loss of adhesion takes place within or underneath the BMZ. Classic EBA demonstrates extensive skin fragility; DH is commonly associated with gluten-sensitive enteropathy, and manifests clinically with pruritic papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The clinical spectrum of bullous pemphigoid includes tense blisters, urticarial plaques, and prurigo-like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy, and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a „cluster of jewels”-like pattern in childhood (chronic bullous disease of childhood and is more clinically heterogeneous in adulthood. Many of the autoantigens in these disorders are known and have been well characterized. ABDs may be influenced by both genetic and exogenous factors. The diagnoses of

  6. Prevalence of celiac disease among first-degree relatives of Indian celiac disease patients.

    Science.gov (United States)

    Mishra, Asha; Prakash, Shyam; Kaur, Gurvinder; Sreenivas, Vishnubhatla; Ahuja, Vineet; Gupta, Siddhartha Datta; Makharia, Govind K

    2016-03-01

    Celiac disease, once thought to be uncommon in Asia, is now recognized in Asian nations as well. We investigated the prevalence of celiac disease in first-degree relatives of celiac disease patients followed in our centre. First-degree relatives were screened prospectively for celiac disease using questionnaire-based interview and anti-tissue transglutaminase antibody. Serology positive first-degree relatives underwent duodenal biopsies. Diagnosis of celiac disease was made based on positive serology and villous abnormality Marsh grade 2 or higher. Human leucocyte antigen DQ2/-DQ8 was also assessed in 127 first-degree relatives. 434 first-degree relatives of 176 celiac disease patients were prospectively recruited; 282 were symptomatic (64.9%), 58 were positive for serology (13.3%). Seroprevalence was higher in female than in males (19% vs 8.5%; p=0.001) and highest in siblings (16.9%) than parents (13.6%) and children (5.9%) of celiac patients (p=0.055); 87.4% first-degree relatives were human leucocyte antigen-DQ2/-DQ8 positive. Overall prevalence of celiac disease was 10.9% amongst first-degree relatives. The prevalence of celiac disease in first-degree relatives of celiac disease patients was 10.9% in our cohort, and 87% had human leucocyte antigen-DQ2 or -DQ8 haplotype. All first-degree relatives of celiac disease patients should be screen for celiac disease even if asymptomatic or with atypical manifestations. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  7. Angular cheilitis as the initial sign of Crohn’s disease in children

    Directory of Open Access Journals (Sweden)

    Nuzul Rezki Ramadhani

    2016-06-01

    Full Text Available Crohn’s disease (CD is a chronic inflammatory process of gastrointestinal tract and originally described as a disorder of the smallest intestine caused by an inappropiate mucosal inflammatory response to intestinal bacteria in genetically predisposed host. Oral manifestation are important clinical finding in Crohn’s disease especially in a pediatric patient. This review highlight oral manifestation of gastrointestinal disorder with angular cheilitis as the initial sign of CD in children. Angular cheilitis are considered to be an important extraintestinal manifestation an presenting as the initial sign of Crohn’s disease in children, although uncommon but can be an important clue in the diagnosis of CD before the development of gastrointestinal symptoms. Angular cheilitis may occasionally occur before the onset of gastrointestinal  disease be present during the disease process or persist even even after the disease has resolved.

  8. Addison's Disease

    Science.gov (United States)

    ... of potassium and low levels of sodium. What causes Addison’s disease? Addison’s disease is caused by injury to your ... example, a problem with your pituitary gland can cause secondary Addison’s disease. Or, you may develop Addison’s disease if you ...

  9. Graves' Disease

    Science.gov (United States)

    ... 2011 survey of clinical practice patterns in the management of Graves' disease. Journal of Clinical Endocrinology and Metabolism. 2012 Dec;97( ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  10. Heart Diseases

    Science.gov (United States)

    ... 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 ...

  11. Celiac disease presenting as rickets in Saudi children.

    Science.gov (United States)

    Assiri, Asaad; Saeed, Anjum; AlSarkhy, Ahmed; El Mouzan, Mohammed Issa; El Matary, Wael

    2013-01-01

    Rickets is commonly seen as a sign of malabsorption like celiac disease if it is not treated appropriately with vitamin D and calcium supplements. The aim of this study was to examine the frequency of diagnosis of celiac disease among children with unexplained rickets in Saudi children at a tertiary hospital setting. Retrospective review of records of patients referred over 10 years to a pediatric gastroenterology and hepatology unit. The study included all patients referred for evaluation of unexplained rickets and osteomalacia and screened for celiac disease. The diagnosis of rickets was made on the basis of history, physical examination, biochemical and radiological investigations. The diagnosis of celiac disease was made based on the ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology, and Nutrition) criteria. Twenty-six children with a mean (SD) age of 9.5 (4.6) years (5 males, range 1-15 years) were referred for evaluation of unexplained rickets and were screened for celiac disease. The diagnosis of celiac disease based on small bowel biopsy findings was confirmed in 10 (38.4%) patients with rickets. Serological markers for celiac disease including antiendomyseal antibodies and antitissue transglutaminase antibodies were positive in all ten children. Rickets is not an uncommon presentation of celiac disease in Saudi children and pediatricians should consider celiac disease as an underlying cause for rickets.

  12. Emerging Vector-Borne Diseases.

    Science.gov (United States)

    Huntington, Mark K; Allison, Jay; Nair, Dilip

    2016-10-01

    Several mosquito-borne viral infections have recently emerged in North America; West Nile virus is the most common in the United States. Although West Nile virus generally causes a self-limited, flulike febrile illness, a serious neuroinvasive form may occur. Dengue is the most common vector-borne viral disease worldwide, and it has been a significant public health threat in the United States since 2009. Known as breakbone fever for its severe myalgias and arthralgias, dengue may cause a hemorrhagic syndrome. Chikungunya also causes flulike febrile illness and disabling arthralgias. Although meningoencephalitis may occur with chikungunya, bleeding is uncommon. Symptoms of Zika virus infection are similar to those of dengue, but milder. Zika virus increases the risk of fetal brain abnormalities, including microcephaly, if a pregnant woman is infected. Zika virus is spread through Aedes albopictus mosquito bites, is transmitted sexually, and may rarely spread nonsexually from person to person. Diagnosis of these vectorborne infections is clinical and serologic, and treatment is supportive. Other, well-established vector-borne diseases are also important. Ehrlichiosis is a tick-borne bacterial disease that presents as a nonspecific syndrome of fever, headache, malaise, and myalgias. It is diagnosed via blood smear testing, with confirmatory serology. Ehrlichiosis is treated with doxycycline. Rickettsial infections are transmitted by fleas, mites, and ticks, and severity ranges from mild to life threatening. Rocky Mountain spotted fever, the most significant rickettsial infection, is primarily a clinical diagnosis that presents as fever, headache, myalgias, petechial rash, and tick exposure. Doxycycline is effective for rickettsial infections if administered promptly. Vector avoidance strategies are critical to the prevention of all of these infections.

  13. [Histological diagnosis and complications of celiac disease. Update according to the new S2k guidelines].

    Science.gov (United States)

    Aust, D E; Bläker, 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 transglutaminase 2 (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.

  14. [Non-Helicobacter pylori, Non-nonsteroidal Anti-inflammatory Drug Peptic Ulcer Disease].

    Science.gov (United States)

    Chang, Young Woon

    2016-06-25

    Non-Helicobacter pylori, non-NSAID peptic ulcer disease (PUD), termed idiopathic PUD, is increasing in Korea. Diagnosis is based on exclusion of common causes such as H. pylori infection, infection with other pathogens, surreptitious ulcerogenic drugs, malignancy, and uncommon systemic diseases with upper gastrointestinal manifestations. The clinical course of idiopathic PUD is delayed ulcer healing, higher recurrence, higher re-bleeding after initial ulcer healing, and higher mortality than the other types of PUD. Genetic predisposition, older age, chronic mesenteric ischemia, cigarette smoking, concomitant systemic diseases, and psychological stress are considered risk factors for idiopathic PUD. Diagnosis of idiopathic PUD should systematically explore all possible causes. Management of this disease is to treat underlying disease followed by regular endoscopic surveillance to confirm ulcer healing. Continuous proton pump inhibitor therapy is an option for patients who respond poorly to the standard ulcer regimen.

  15. Spectrum of high-resolution computed tomography imaging in occupational lung disease.

    Science.gov (United States)

    Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

    2013-10-01

    Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases.

  16. Spectrum of high-resolution computed tomography imaging in occupational lung disease

    International Nuclear Information System (INIS)

    Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

    2013-01-01

    Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases

  17. Multi-organ IgG4-related disease: Demystifying the diagnostic enigma

    Directory of Open Access Journals (Sweden)

    S Bhardwaj

    2018-01-01

    Full Text Available IgG4-related disease (IgG4-RD is a multisystemic mass forming immune-mediated disease entity, commonly creating confusion and diagnostic challenges. We present a case of a 25-year-old female who presented with bilateral orbital masses, lymphadenopathy, paraspinal and renal masses, which clinicoradiologically simulated lymphoma. The lymph node biopsy revealed interfollicular sheets of plasma cells creating confusion with Castleman's disease and marginal zone lymphoma. The orbital biopsy revealed ductular destruction, periductular plasma cells, and fibrosis, mimicking Sjogren's syndrome and Castleman's disease. However, the correlation of the clinical features with histopathological findings, IgG4 immunopositivity, and serum studies helped in clinching the diagnosis. This case presents an uncommon combination of clinical features infrequently reported in literature. Furthermore, and more importantly, it highlights the need to keep a differential of IgG4-RD in mind, to aid early and correct treatment of the disease.

  18. MIXED HYALINE VASCULAR AND PLASMA CELL TYPE CASTLEMAN’S DISEASE: REPORT OF A CASE

    Directory of Open Access Journals (Sweden)

    F. Asgarani

    2006-05-01

    Full Text Available Castleman’s disease (angiofollicular lymphoid hyperplasia includes a heterogeneous group of lymphoproliferative disorders. The cause of this disease remains uncertain. There are two types of localized Castleman’s disease: the more common hyaline vascular and the plasma cell types. Mixed variant is an uncommon localized lesion in general population. The lesions can occur in any part of the body that contains lymphoid tissue, although seventy percent are found in the anterior mediastinum. We report a thirty years old boy with Castleman’s disease who presented with fever, anorexia, weight loss,sweating, anemia and abdominal mass. The histologic examination of the biopsy specimens revealed a mixed hyaline vascular and plasma cell type of Castleman’s disease.

  19. Simultaneous occurrence of Graves’ disease in eutopic and ectopic thyroid tissues: A case report and review of literature

    International Nuclear Information System (INIS)

    Khan, Shoukat H; Rather, Tanveer A; Syed, Tajamul

    2012-01-01

    Ectopic thyroid tissue an uncommon condition results from abnormal migration of the primitive thyroid bud. This may be the only functional thyroid. Ectopic thyroid tissue may sometimes coexist with the eutopic thyroid gland. Hyperthyroidism in association with ectopic thyroid tissue is very uncommon. We report a rare case of simultaneous involvement of ectopic and eutopic thyroid tissue in a married women of 35 years who was referred to our department for a technetium 99m thyroid scan. Coexisting ectopic and eutopic thyroid tissue due to identical histology may have similar response to various stimulatory and inhibitory factors like hormones and immunoglobulin's. Iodine-131 is an easy to administer and effective treatment for patients with simultaneous Graves’ disease in the ectopic and eutopic thyroid tissues

  20. Gaucher Disease

    Science.gov (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you ... affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types ...

  1. Lyme Disease

    Science.gov (United States)

    ... spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of Lyme disease ... My Lyme Disease Risk? Bug Bites and Stings Bell's Palsy Rocky Mountain Spotted Fever Meningitis View more About ...

  2. Stargardt Disease

    Science.gov (United States)

    ... Stargardt disease, lipofuscin accumulates abnormally. The Foundation Fighting Blindness supports research studying lipofuscin build up and ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is ...

  3. Refsum Disease

    Science.gov (United States)

    ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ...

  4. Addison Disease

    Science.gov (United States)

    ... your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  5. Alzheimer disease

    Science.gov (United States)

    ... likely need to plan for their loved one's future care. The final phase of the disease may ... disease and other dementias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: ...

  6. Menkes Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Menkes disease is caused by a defective gene named ATPTA ... arteries. Weakened bones (osteoporosis) may result in fractures. × Definition Menkes disease is caused by a defective gene named ATPTA ...

  7. Fabry Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty ... severe symptoms similar to males with the disorder. × Definition Fabry disease is caused by the lack of or faulty ...

  8. Liver Diseases

    Science.gov (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

  9. Liver disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  10. Digestive Diseases

    Science.gov (United States)

    ... Lactose Intolerance Liver Disease Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the Bowel Pancreatitis Peptic Ulcers (Stomach ... and outreach materials. Clinical Trials Clinical trials offer hope for many people and opportunities to help researchers ...

  11. Kidney Disease

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Kidney Disease KidsHealth / For Teens / Kidney Disease What's in ... Coping With Kidney Conditions Print What Do the Kidneys Do? You might never think much about some ...

  12. Sandhoff Disease

    Science.gov (United States)

    ... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ...

  13. Fifth disease

    Science.gov (United States)

    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 mouth ...

  14. Femoral neck fractures complicating gaucher disease in children

    Energy Technology Data Exchange (ETDEWEB)

    Goldman, A.B.; Jacobs, B.

    1984-09-01

    In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without other injury to the skeleton. Three children with Gaucher disease who developed pathologic fractures of the femoral neck are described. In all three, the fractures occurred between five and nine years of age, and the fracture lines passed through areas of abnormal bone characterized by poorly defined patches of increased and decreased density and cortical thinning along the medial femoral necks. In the affected hips, there was no evidence of avascular necrosis of the femoral heads at the time of injury. One child's fracture was preceeded by multiple bone 'crisis' localized to the proximal femora.

  15. Femoral neck fractures complicating gaucher disease in children

    International Nuclear Information System (INIS)

    Goldman, A.B.; Jacobs, B.

    1984-01-01

    In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without other injury to the skeleton. Three children with Gaucher disease who developed pathologic fractures of the femoral neck are described. In all three, the fractures occurred between five and nine years of age, and the fracture lines passed through areas of abnormal bone characterized by poorly defined patches of increased and decreased density and cortical thinning along the medial femoral necks. In the affected hips, there was no evidence of avascular necrosis of the femoral heads at the time of injury. One child's fracture was preceeded by multiple bone 'crisis' localized to the proximal femora. (orig.)

  16. A Case of Multiple Sclerosis and Celiac Disease

    Directory of Open Access Journals (Sweden)

    H. Z. Batur-Caglayan

    2013-01-01

    Full Text Available Objectives. Multiple sclerosis (MS is an inflammatory autoimmune disorder of the central nervous system (CNS. Since a correlation between gluten intake and incidence of MS had been reported, the relationship of antigliadin antibodies and MS was debated. Case Report. We report the case of a 45-year-old female MS patient who is under interferon treatment. After seven years of monitoring, during her routine gastroenterological assessment, she was diagnosed with celiac disease. Conclusion. Beside the neurological manifestations that have been demonstrated in about 10% of celiac disease (CD patients, white-matter abnormalities in brain MRI are uncommon and controversial. But in the literature, MS seems to be associated with CD as in our patient. We suggest that MS patients with gastroenterological complaints should undergo an assessment for CD.

  17. Femoral neck fractures complicating gaucher disease in children

    Energy Technology Data Exchange (ETDEWEB)

    Goldman, A B; Jacobs, B

    1984-09-01

    In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without other injury to the skeleton. Three children with Gaucher disease who developed pathologic fractures of the femoral neck are described. In all three, the fractures occurred between five and nine years of age, and the fracture lines passed through areas of abnormal bone characterized by poorly defined patches of increased and decreased density and cortical thinning along the medial femoral necks. In the affected hips, there was no evidence of avascular necrosis of the femoral heads at the time of injury. One child's fracture was preceeded by multiple bone 'crisis' localized to the proximal femora.

  18. Cardiovascular diseases

    International Nuclear Information System (INIS)

    Kodama, Kazunori

    1992-01-01

    This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

  19. Autoinflammatory Diseases

    International Nuclear Information System (INIS)

    Penaranda P, Edgar; Spinel B, Nestor; Restrepo, Jose F; Rondon H, Federico; Millan S, Alberto; Iglesias G Antonio

    2010-01-01

    We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immuno genetics and clinical characteristics more important of every disease.

  20. Lyme Disease.

    Science.gov (United States)

    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…

  1. Gaucher disease

    Science.gov (United States)

    ... please enable JavaScript. Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It ...

  2. T-cell non-Hodgkin lymphomas: Spectrum of disease nd the role of imaging in the management of common subtypes

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hye Sun [Dept. of Radiology and Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Krajewski, Katherine M.; Braschi-Amirfarzan, Marta; Shinagare, Atul B. [Dept. of Imaging, Dana Farber Cancer Institute, Harvard Medical School, Boston (United States)

    2017-01-15

    T-cell non-Hodgkin lymphomas (NHLs) are biologically diverse, uncommon malignancies characterized by a spectrum of imaging findings according to subtype. The purpose of this review is to describe the common subtypes of T-cell NHL, highlight important differences between cutaneous, various peripheral and precursor subtypes, and summarize imaging features and the role of imaging in the management of this diverse set of diseases.

  3. Piriformis ganglion: An uncommon cause of sciatica.

    Science.gov (United States)

    Park, J H; Jeong, H J; Shin, H K; Park, S J; Lee, J H; Kim, E

    2016-04-01

    Sciatica can occur due to a spinal lesion, intrapelvic tumor, diabetic neuropathy, and rarely piriformis syndrome. The causes of piriformis syndrome vary by a space-occupying lesion. A ganglionic cyst can occur in various lesions in the body but seldom around the hip joint. In addition, sciatica due to a ganglionic cyst around the hip joint has been reported in one patient in Korea who underwent surgical treatment. We experienced two cases of sciatica from a piriformis ganglionic cyst and we report the clinical characterics and progress after non-operative treatment by ultrasonography-guided aspiration. The two cases were diagnosed by magnetic resonance imaging and were treated by ultrasonography-guided aspiration. We followed the patients for more than 6months. The symptoms of piriformis syndrome from the ganglion improved following aspiration and this conservative treatment is a treatment method that can be used without extensive incision or cyst excision. Level IV historical case. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  4. Coexistence of pheochromocytoma with uncommon vascular lesions

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Background: Pheochromocytoma/paragangliomas have been described to be associated with rare vascular abnormalities like renal artery stenosis. Coexistence of physiologically significant renal artery lesions is a compounding factor that alters management and prognosis of pheochromocytoma patients. Apart from individual case reports, data on such association in Indian population is not available. The aim of this study is to find the nature and prevalence of associated vascular abnormalities. Materials and Methods: From 1990 to 2010, a total of 50 patients were diagnosed with pheochromocytoma/paragangliomas. Hospital charts of these patients were reviewed retrospectively to identify those with unusual vascular abnormalities. Available literature was also reviewed. Results: Of the 50 patients with pheochromocytoma, 7 (14% had coexisting vascular lesions including renal artery stenosis in 4, aortoarteritis in 1, aortic aneurysm in 1 and inferior vena cava thrombosis in 1. Pheochromocytoma was adrenal in 42 and extra adrenal in 8. Laparoscopic adrenalectomy was done in the patients. One patient with renal artery stenosis due to intimal fibrosis was subjected to percutaneous balloon angioplasty; the other three improved after adrenalectomy and lysis of fibrous adhesive bands. The patient with aortoarteritos was treated with oral steroids. Inferior vena cava thrombosis was reversed with anticoagulants. The patient with abdominal aortic aneurysm was advised for annual follow-up on account of its size of 4.5 cm and asymptomatic presentation. Conclusion: There are multiple mechanisms that can lead to renal artery stenosis and other vascular abnormalities in a case of pheochromocytoma. A high index of suspicion is necessary to enable both entities to be diagnosed preoperatively and allow proper planning of surgical therapy. Incomplete diagnosis may lead to persistent hypertension postoperatively in a case of associated renal artery stenosis.

  5. Uncommon presentation of a common disorder

    Directory of Open Access Journals (Sweden)

    P R Sowmini

    2013-01-01

    Full Text Available We report about a young male who presented with generalized muscle stiffness, involving the limb, facial, and paraspinal muscles. The stiffness was severe enough to restrict all his daily activities, progressively increased with movements and also produced recurrent falls. This clinical picture resembled one of stiff person syndrome. As he had hypertrophy of calf muscles and generalized muscle tautness he was evaluated for other disorders which can resemble stiff person syndrome. Investigations revealed severe hypothyroidism with thyroid antibodies being elevated. This case is reported to highlight the fact that myopathy as a presenting manifestation of hypothyroidism can simulate stiff person syndrome. It is essential to identify the condition early as it recovers fully with treatment. Our patient responded well to thyroid replacement therapy and was able to lead a normal life.

  6. Sexsomnia: an uncommon variety of parasomnia.

    Science.gov (United States)

    Béjot, Yannick; Juenet, Nicolas; Garrouty, Romain; Maltaverne, Didier; Nicolleau, Laurent; Giroud, Maurice; Didi-Roy, Rudy

    2010-01-01

    Sexsomnia is considered a particular form of parasomnia characterized by atypical sexual behaviour during sleep. Only a few cases have been reported in the literature. We describe here two cases of sexsomnia that took place in adult women whose personal history was remarkable for traumatic sexual psychological stress during childhood. In addition, the first patient had a medical history of alcoholism during adolescence and current sleepwalking. In the second patient, drug consumption was reported during adolescence, and psychiatric assessment found a major depressive disorder. Neurological examination was normal for both patients. The sexual behaviour was reported by the bed partner because of total amnesia of the event by the patients. Events included moaning, vocalizations with dirty talk, masturbation, sexual assault, and sexual intercourse. The behaviour was harmful for the bed partner in the second case. For both patients, electroencephalogram and brain magnetic resonance imaging were normal whereas nocturnal polysomnography recordings revealed several abrupt and spontaneous arousals from slow-wave sleep. Patients were successfully treated by serotonin reuptake inhibitors. Our observations underline the fact that efforts need to be made to increase awareness of the issue of sexsomnia, in order to identify patients suffering from this atypical parasomnia, which can be associated with adverse psychological consequences and serious medico-legal issues. 2009 Elsevier B.V. All rights reserved.

  7. An uncommon cause of anaemia: Sheehan's syndrome.

    Science.gov (United States)

    Melchardt, Thomas; Namberger, Konrad; Weiss, Lukas; Egle, Alexander; Faber, Viktoria; Greil, Richard

    2010-12-01

    Ischemic pituitary necrosis due to severe postpartum haemorrhage called Sheehan's syndrome is a rare cause of hypopituitarism in the western world, but much more common in developing countries. A 45-year-old female patient being a war refugee from Chechnya with severe anaemia and fatigue was diagnosed at our outpatient department with Sheehan's syndrome after severe postpartum haemorrhage and emergency hysterectomy 15 years ago. Panhypopituitarism was adequately treated with substitution of hydrocortisone, thyroxine and transdermal oestrogen which resulted in haemoglobin increase to nearly normal levels and symptoms improved immediately. Severe anaemia caused by panhypopituitarism shows the importance of the hormonal system for erythropoiesis. Clinical and basic scientific evidence indicates thyroidal hormones to be the main cause.

  8. Warty Carcinoma Penis: An Uncommon Variant

    Directory of Open Access Journals (Sweden)

    Sushma Thapa

    2017-01-01

    Full Text Available Penile carcinoma frequency varies widely in different parts of the world and comprises 1–10% of all the malignancies in males. Majority of the cases of penile carcinoma are squamous cell carcinoma of penis comprising 60% to 70% of all cases. Warty carcinoma of penis is an unusual neoplasm and a variant of penile squamous cell carcinoma comprising 5%–10% of all the variants. The other histological variants include basaloid, verrucous, papillary, sarcomatous, mixed, and adenosquamous carcinoma. The various histological entities with an exophytic papillary lesions including warty carcinoma are together referred to as the “verruciform” group of neoplasms. The warty carcinoma has to be differentiated from these lesions and is typically distinguished by histological features of hyperkeratosis, arborescent papillomatosis, acanthosis, and prominent koilocytosis with nuclear pleomorphism. We present a case of 65-year-old male with growth measuring 6×4 cm in the penis who underwent total penectomy and was diagnosed as warty carcinoma penis.

  9. Sodium Bicarbonate mouth rinse: An Uncommon Complication

    OpenAIRE

    Fatih Mehmet Coskunses

    2012-01-01

    Sodium bicarbonate is a natural buffer that maintains a healthy pH in mouth to promote a clean and fresh oral environment. Sodium-bicarbonate rinse is empirically suggested to patients by dentist and people around, and may prove to be harmful. In this short communication, we present chemical burn of oral mucosa because of sodium-bicarbonate rinse after misfit dental impression.

  10. Identification of uncommon objects in containers

    Science.gov (United States)

    Bremer, Peer-Timo; Kim, Hyojin; Thiagarajan, Jayaraman J.

    2017-09-12

    A system for identifying in an image an object that is commonly found in a collection of images and for identifying a portion of an image that represents an object based on a consensus analysis of segmentations of the image. The system collects images of containers that contain objects for generating a collection of common objects within the containers. To process the images, the system generates a segmentation of each image. The image analysis system may also generate multiple segmentations for each image by introducing variations in the selection of voxels to be merged into a segment. The system then generates clusters of the segments based on similarity among the segments. Each cluster represents a common object found in the containers. Once the clustering is complete, the system may be used to identify common objects in images of new containers based on similarity between segments of images and the clusters.

  11. Uncommon Locations and Presentations of Hydatid Cyst

    African Journals Online (AJOL)

    , ... of the liver and right subdiaphragmatic region, seventh with HD of right inguinal ... Materials and Methods ... hydatid only one case was with bilateral lung involvement. .... Treatment of HD is mainly surgical (open as well as laparoscopic).

  12. Ischiogluteal bursitis: an uncommon type of bursitis

    Energy Technology Data Exchange (ETDEWEB)

    Van Mieghem, Isabelle M.; Boets, An; Sciot, Raf; Van Breuseghem, Iwan [Department of Radiology, University Hospitals, Catholic University Leuven, Leuven (Belgium)

    2004-07-01

    Ischiogluteal bursitis is a rare, infrequently recognized soft tissue mass of the buttock region. Of importance is the radiological differential diagnosis with other benign and malignant soft-tissue tumors. We describe the imaging findings of bursitis. (orig.)

  13. Ischiogluteal bursitis: an uncommon type of bursitis

    International Nuclear Information System (INIS)

    Van Mieghem, Isabelle M.; Boets, An; Sciot, Raf; Van Breuseghem, Iwan

    2004-01-01

    Ischiogluteal bursitis is a rare, infrequently recognized soft tissue mass of the buttock region. Of importance is the radiological differential diagnosis with other benign and malignant soft-tissue tumors. We describe the imaging findings of bursitis. (orig.)

  14. Sinus of Valsalva aneurysm: An uncommon presentation

    Directory of Open Access Journals (Sweden)

    Ahmad Mirdamadi

    2012-10-01

    Full Text Available BACKGROUND: Sinus of Valsalva aneurysm (SVA may be congenital or acquired. They could mimic ventricular tumor symptoms and cause signs and symptoms of ventricular outflow tract obstruction. They may also involve the conduction system and cause palpitations or syncopal episodes. Both transthoracic echocardiography (TTE and transesophageal echocardiography (TEE serve as quick, noninvasive methods to provide information on size and location of aneurysmal dilatation and cardiac chamber involvement. These methods can identify any associated anomalies or complications. This study presents a patient with unruptured SVA. CASE REPORT: A 46-year-old man, who had been suffering from nonspecific symptoms such as exercise intolerance and weakness for a few months, referred to our clinic in Isfahan (Iran. In TTE, a large mass was observed in the right ventricle. SVA was suspected after meticulous probing. This diagnosis was confirmed by TEE and computed tomography angiography. At open heart surgery, an SVA with a lot of clots it was removed. CONCLUSION: SVA must be kept in mind when a tumor-like mass is observed in the right ventricle. Detailed evaluation would thus be necessary to rule out SVA and to prevent wrong diagnosis and treatment that can sometimes be catastrophic. Keywords: Sinus Valsalva, Aneurysm, Cardiac Tumor.

  15. [Epithelioid hemangioendothelioma: an uncommon liver tumor].

    Science.gov (United States)

    Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

    2010-01-01

    We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

  16. Diabetic cachectic neuropathy: An uncommon neurological ...

    African Journals Online (AJOL)

    Diabetic cachectic neuropathy, also called diabetic neuropathic cachexia, is a very rare ... type 1 and type 2 diabetics and occurs irrespective of the duration of diabetes. .... distal symmetrical peripheral neuropathy in pregnancy. However,.

  17. Famous Threesomes: Uncommon Uses for Common Stories.

    Science.gov (United States)

    Spears, Jo Ann Lohl

    2003-01-01

    This article presents a unit of fun and developmentally satisfying activities, using familiar folk stories focusing on threesomes. Each example involves story time, block center, art center, dramatic play, listening area, math and manipulatives center, folder game, group times, cooking, writing center, discovery center, and the music and movement…

  18. Pediatric ovarian torsion: an uncommon clinical entity

    OpenAIRE

    Rajwani, Kapil M; Mahomed, Anies

    2014-01-01

    Key Clinical Message Pediatric ovarian torsion is an infrequent diagnosis and it often mimics acute appendicitis. Most cases are due to underlying ovarian pathology and if left untreated, ovarian torsion may eventually cause peritonitis. Emergency exploratory laparoscopy represents a valuable diagnostic and therapeutic tool in suspected ovarian torsion.

  19. Orgasmic cephalgia: an uncommon presentation | Eghwrudjakpor ...

    African Journals Online (AJOL)

    , her headaches had completely disappeared. Conclusion: Most cases of orgasmic cephalgia are benign and probably do not require specific treatment. Triptans are useful for those that do not respond to conventional analgesics. Keywords: ...

  20. CASE REPORT Uncommon Pathogen Bacillus Cereus Causing ...

    African Journals Online (AJOL)

    2018-01-01

    Jan 1, 2018 ... Causing Subdural Empyema in a Child. Ethiop J ... 1Department of Child Health,. Airlangga ... secondary to middle ear infection, meningitis, brain surgery, ... classic clinical syndrome is an acute febrile illness punctuated by.

  1. Granular cell tumor: An uncommon benign neoplasm

    Directory of Open Access Journals (Sweden)

    Tirthankar Gayen

    2015-01-01

    Full Text Available Granular cell tumor is a distinctly rare neoplasm of neural sheath origin. It mainly presents as a solitary asymptomatic swelling in the oral cavity, skin, and rarely internal organs in the middle age. Histopathology is characteristic, showing polyhedral cells containing numerous fine eosinophilic granules with indistinct cell margins. We present a case of granular cell tumor on the back of a 48-year-old woman which was painful, mimicking an adnexal tumor.

  2. Common Law and Un-common Sense

    OpenAIRE

    Ballard, Roger

    2000-01-01

    This paper examines the practical and conceptual differences which arise when juries are invited to apply their common sense in assessing reasonable behaviour in the midst of an ethnically plural society. The author explores the conundrums which the increasing salience of ethnic pluralism has now begun to pose in legal terms, most especially with respect to organisation of system for the equitable administration and delivery of justice in the context of an increasingly heterogeneous society. ...

  3. ORIGINAL ARTICLES Overt hypoadrenalism is uncommon in ...

    African Journals Online (AJOL)

    2003-05-23

    May 23, 2003 ... glands. This high prevalence of adrenal metastases may reflect the rich ... hypotension were noted (a fall in systolic blood pressure > 20. mmHg and I or ..... Low dose (lpg) ACTH test in the evaluation of adrenal dysfunction in ...

  4. Hypopituitarism is uncommon after aneurysmal subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Klose, Marianne; Brennum, Jannick; Poulsgaard, Lars

    2010-01-01

    Aneurysmal subarachnoid haemorrhage (SAH) has recently been reported as a common cause of chronic hypopituitarism, and introduction of routine neuroendocrine screening has been advocated. We aimed at estimating the risk of hypopituitarism after SAH using strict criteria including confirmatory...

  5. J. B. S. Haldane: an uncommon scientist

    Indian Academy of Sciences (India)

    M. S. SWAMINATHAN

    2017-11-24

    Nov 24, 2017 ... considerable inbreeding prevailing in India among human communities, Haldane encouraged studies in the area of eugenics. His enthusiasm for scientific work was infectious and he gathered around him brilliant young geneticists like. K. Dronamraju. The last time I was with him was at the International.

  6. Quantitative assessment of finger tapping characteristics in mild cognitive impairment, Alzheimer's disease, and Parkinson's disease.

    Science.gov (United States)

    Roalf, David R; Rupert, Petra; Mechanic-Hamilton, Dawn; Brennan, Laura; Duda, John E; Weintraub, Daniel; Trojanowski, John Q; Wolk, David; Moberg, Paul J

    2018-06-01

    Fine motor impairments are common in neurodegenerative disorders, yet standardized, quantitative measurements of motor abilities are uncommonly used in neurological practice. Thus, understanding and comparing fine motor abilities across disorders have been limited. The current study compared differences in finger tapping, inter-tap interval, and variability in Alzheimer's disease (AD), Parkinson's disease (PD), mild cognitive impairment (MCI), and healthy older adults (HOA). Finger tapping was measured using a highly sensitive light-diode finger tapper. Total number of finger taps, inter-tap interval, and intra-individual variability (IIV) of finger tapping was measured and compared in AD (n = 131), PD (n = 63), MCI (n = 46), and HOA (n = 62), controlling for age and sex. All patient groups had fine motor impairments relative to HOA. AD and MCI groups produced fewer taps with longer inter-tap interval and higher IIV compared to HOA. The PD group, however, produced more taps with shorter inter-tap interval and higher IIV compared to HOA. Disease-specific changes in fine motor function occur in the most common neurodegenerative diseases. The findings suggest that alterations in finger tapping patterns are common in AD, MCI, and PD. In addition, the present results underscore the importance of motor dysfunction even in neurodegenerative disorders without primary motor symptoms.

  7. Averting the legacy of kidney disease: focus on childhood

    Science.gov (United States)

    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:28031959

  8. Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.

    Science.gov (United States)

    Kini, Jyoti Ramnath; Sreeram, Saraswathy; Hegde, Anupama; Kamath, Sowmini; Pai, Radha Ramachandra

    2017-09-01

    Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease. Peripheral smear revealed microcytic hypochromic cells and nucleated red cells with haemolytic blood picture. Thalassaemia trait was indicated on haemoglobin variant analysis using High Performance Liquid Chromatography. Liver biopsy, bone marrow aspirate and therapeutic splenectomy revealed Gaucher-like cells. Type 1 Gaucher disease can be clinically asymptomatic as well as present with massive liver and spleen enlargement and involvement of bone marrow. Anaemia, splenomegaly and thrombocytopenia are the usual presentations at diagnosis, similar to the haemoglobinopathies. Gaucher-like cells with normal beta-glucocerebrosidase (pseudo-Gaucher cells) are seen in thalassaemia, leukaemia, mycobacterial infections and myeloma. Gaucher disease coexisting with thalassaemia trait is uncommon. We report the occurrence of thalassaemia trait and Gaucher disease in a child, which resulted in confusion regarding the haematological diagnosis. This report highlights the necessity of independent establishment of the diagnosis in every patient so that appropriate management decisions are taken.

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

    Directory of Open Access Journals (Sweden)

    J.R. Ingelfinger

    2016-01-01

    Full Text Available 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.

  10. Inflammatory bowel disease in children of middle eastern descent.

    Science.gov (United States)

    Naidoo, Christina Mai Ying; Leach, Steven T; Day, Andrew S; Lemberg, Daniel A

    2014-01-01

    Increasing rates of inflammatory bowel disease (IBD) are now seen in populations where it was once uncommon. The pattern of IBD in children of Middle Eastern descent in Australia has never been reported. This study aimed to investigate the burden of IBD in children of Middle Eastern descent at the Sydney Children's Hospital, Randwick (SCHR). The SCHR IBD database was used to identify patients of self-reported Middle Eastern ethnicity diagnosed between 1987 and 2011. Demographic, diagnosis, and management data was collected for all Middle Eastern children and an age and gender matched non-Middle Eastern IBD control group. Twenty-four patients of Middle Eastern descent were identified. Middle Eastern Crohn's disease patients had higher disease activity at diagnosis, higher use of thiopurines, and less restricted colonic disease than controls. Although there were limitations with this dataset, we estimated a higher prevalence of IBD in Middle Eastern children and they had a different disease phenotype and behavior compared to the control group, with less disease restricted to the colon and likely a more active disease course.

  11. Dent disease

    Directory of Open Access Journals (Sweden)

    Rina R Rus

    2017-04-01

    Full Text Available Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2. Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis.

  12. Morgellons Disease

    OpenAIRE

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-01-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination sho...

  13. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang

    2006-03-01

    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  14. Celiac disease

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2013-01-01

    Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

  15. Osteopoikilosis associated with keloids formation, rheumatoid arthritis, myasthenia, Graves` disease and megaloblastic anaemia

    Directory of Open Access Journals (Sweden)

    Irena Zimmermann-Górska

    2014-06-01

    Full Text Available Osteopoikilosis is an uncommon hereditary dysplasia of skeleton characterized by small sclerotic foci clustered mainly in periarticular osseus regions. The radiographic pattern is pathognomonic. The disease can be a result of the loss-of-function mutations in LEMD3 – the gene responsible for bone density which can influence also on the expression of transforming growth factor β1 (TGF-β1 signalling. TGF-β1 is a key mediator of fibrosis and a modulator of immune responses. Patients with osteopoikilosis demonstrate a higher incidence of keloid formation and autoimmune diseases. In the presented case osteopoikilosis was associated with keloids formation and autoimmune diseases: rheumatoid arthritis, myasthenia, Graves’ disease and megaloblastic anaemia.

  16. Differentiation of mucosal disease from partial development of the paranasal sinuses in pediatric patients

    International Nuclear Information System (INIS)

    Duerinckx, A.J.; Whyte, A.M.; Lufkin, R.B.; Hall, T.R.; Kangarloo, H.

    1988-01-01

    On magnetic resonance (MR) images of pediatric patients, sinus mucosal disease may have an appearance similar to that of the normal partially developed sinus, leading to an increase in the number of patients labeled as having incidental sinusitis. The paranasal sinuses were retrospectively evaluated in 27 infants and children aged 0-11 years undergoing brain MR imaging for indications both unrelated and related to sinus disease. The authors developed criteria for grading paranasal sinus development and mucosal disease. Incidental mucosal disease is not uncommon, occurring in 28% of patients aged 0-7 years. In children under 3 years of age, inflammatory mucosal thickening and marrow surrounding the partially developed sinus have a high signal on many MR sequences and may be confused. Recognition of the low-intensity peripheral cortical margin of the sinus and awareness of the stages of normal sinus development allow differentiation

  17. Naloxone-induced seizures in rats infected with Borna disease virus.

    Science.gov (United States)

    Solbrig, M V; Koob, G F; Lipkin, W I

    1996-04-01

    The opioid antagonist naloxone is widely used in the emergency treatment of nontraumatic coma. Although it is uncommon for serious side effects to result from administration of opiate antagonists, we report that naloxone can have epileptogenic effects in the context of encephalitis. In an experimental model of viral encephalitis, rats infected with Borna disease virus developed myoclonic, generalized clonic, or atonic seizures; behavior arrest; and staring spells when treated with naloxone. These findings suggest a novel neuropharmacologic link, through opioid peptide systems, between epilepsy and encephalitis and disclose a potential contraindication to use of opioid antagonists in nontraumatic coma.

  18. Olfactory Functioning in Parkinson's Disease: The Effects of Deep Brain Stimulation

    DEFF Research Database (Denmark)

    van Hartevelt, Tim Johannes

    2014-01-01

    The sense of smell is vital for species survival in terms of food selection and detection as well as procreation. Disorders of the sense of smell are not uncommon and can have a significant effect on general health and well-being including quality of life. In Parkinson's disease (PD), the loss...... of sense of smell is one of the most common and earliest symptoms, appearing approximately 5 years prior to any motor symptoms. Deep brain stimulation (DBS) has proven remarkably effective in alleviating the symptoms of PD including olfactory dysfunction. This remains a difficult area to research with many...

  19. Models of marine molluscan diseases: Trends and challenges.

    Science.gov (United States)

    Powell, Eric N; Hofmann, Eileen E

    2015-10-01

    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. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Nonnecrotizing anterior scleritis mimicking orbital inflammatory disease

    Directory of Open Access Journals (Sweden)

    Lynch MC

    2013-08-01

    Full Text Available Michelle Chen Lynch,1 Andrew B Mick21Optometry Clinic, Ocala West Veterans Affairs Specialty Clinic, Ocala, FL, USA; 2Eye Clinic, San Francisco VA Medical Center, San Francisco, CA, USABackground: Anterior scleritis is an uncommon form of ocular inflammation, often associated with coexisting autoimmune disease. With early recognition and aggressive systemic therapy, prognosis for resolution is good. The diagnosis of underlying autoimmune disease involves a multidisciplinary approach.Case report: A 42-year-old African American female presented to the Eye Clinic at the San Francisco Veteran Affairs Medical Center, with a tremendously painful left eye, worse on eye movement, with marked injection of conjunctiva. There was mild swelling of the upper eyelid. Visual acuity was unaffected, but there was a mild red cap desaturation. The posterior segment was unremarkable. The initial differential diagnoses included anterior scleritis and orbital inflammatory disease. Oral steroid treatment was initiated with rapid resolution over a few days. Orbital imaging was unremarkable, and extensive laboratory work-up was positive only for antinuclear antibodies. The patient was diagnosed with idiopathic diffuse, nonnecrotizing anterior scleritis and has been followed for over 5 years without recurrence. The rheumatology clinic monitors the patient closely, as suspicion remains for potential arthralgias including human leukocyte antigen-B27-associated arthritis, lupus-associated arthritis, seronegative rheumatoid arthritis, recurrent juvenile idiopathic arthritis, and scleroderma, based on her constitutional symptoms and clinical presentation, along with a positive anti-nuclear antibody lab result.Conclusion: Untreated anterior scleritis can progress to formation of cataracts, glaucoma, uveitis, corneal melting, and posterior segment disease with significant risk of vision loss. Patients with anterior scleritis must be aggressively treated with systemic anti

  1. Small mammal populations in zoonotic disease and toxicological studies

    International Nuclear Information System (INIS)

    Muul, I.

    1978-01-01

    Examples of zoonotic diseases are discussed in relation to their distribution in mammalian hosts. Various ecological factors influence disease distribution patterns so that only a certain portion of the mammalian populations are subject to infections. Emphasis was placed on some of these ecological factors in studying the mainstream of infections in endemic hosts and vectors. This approach might be called medical ecology and would be supplemental to epidemiological studies which characteristically emphasize human involvement in zoonotic disease transmission. For example, occurrence in certain habitats and vertical distribution within forest habitats predisposed various mammalian species to infections. Arboreal species did not have scrub typhus infections while terrestrial species had high infection rates. Malaria parasites were common in arboreal mammals but uncommon in terrestrial species. Additionally, disease surveys in the absence of population data pertaining to potential host species sometimes yield misleading results, especially if age structure within populations changes through time. In field studies use of sentinel animals of known immunological history provide valuable supplemental information to surveys of free living animals which may have been infected at some unknown time in the past. As many different species should be studied as is practical since some species may not be susceptible to certain diseases under study. In laboratory studies, inclusion of non-standard mammals may provide opportunities to culture disease organisms which do not proliferate in standard laboratory species, or to replace diminishing resources of such species as primates

  2. Mortality from nonneoplastic skin disease in the United States.

    Science.gov (United States)

    Lott, Jason P; Gross, Cary P

    2014-01-01

    The mortality burden from nonneoplastic skin disease in the United States is unknown. We sought to estimate mortality from nonneoplastic skin disease as underlying and contributing causes of death. Population-based death certificate data detailing mortality from nonneoplastic skin disease for years 1999 to 2009 were used to calculate absolute numbers of death and age-adjusted mortality by year, patient demographics, and 10 most commonly reported diagnoses. Nonneoplastic skin diseases were reported as underlying and contributing causes of mortality for approximately 3948 and 19,542 patients per year, respectively. Age-adjusted underlying cause mortality (per 100,000 persons) were significantly greater (P deaths occurred in patients ages 65 years and older (34,248 total deaths). Common underlying causes of death included chronic ulcers (1789 deaths/y) and cellulitis (1348 deaths/y). Errors in death certificate data and inability to adjust for patient-level confounders may limit the accuracy and generalizability of our results. Mortality from nonneoplastic skin disease is uncommon yet potentially preventable. The elderly bear the greatest burden of mortality from nonneoplastic skin disease. Chronic ulcers and cellulitis constitute frequent causes of death. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  3. Peyronie's Disease.

    Science.gov (United States)

    Taylor, Frederick L; Levine, Laurence A

    2007-11-01

    Peyronie's disease is a psychologically and physically devastating disorder that is manifest by a fibrous inelastic scar of the tunica albuginea, resulting in palpable penile scar in the flaccid condition and causing penile deformity, including penile curvature, hinging, narrowing, shortening, and painful erections. Peyronie's disease remains a considerable therapeutic dilemma even to today's practicing physicians.

  4. Parasitogenic diseases

    International Nuclear Information System (INIS)

    Rozenshtraukh, L.S.

    1985-01-01

    Radiological semiotics of parasitogenic diseases of the intestinal tract is presented. The problem of radiological examination in the case of the diseases consists in the determination of the large intestine state, depth and extension of lesions, and also in solution of treatment efficiency problem

  5. Batten Disease

    Science.gov (United States)

    ... the country. NIH is the leading supporter of biomedical research in the world. Much of NINDS’ research on Batten disease and the neuronal ceroid lipofuscinoses focuses on gaining a better understanding of the disease, gene therapy, and developing novel drugs to treat the disorders. ...

  6. Liver Disease

    Science.gov (United States)

    ... and ridding your body of toxic substances. Liver disease can be inherited (genetic) or caused by a variety of factors that damage the ... that you can't stay still. Causes Liver disease has many ... or semen, contaminated food or water, or close contact with a person who is ...

  7. Leigh's Disease

    Science.gov (United States)

    ... X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet may be recommended. View Full Treatment Information Definition Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ...

  8. Meniere's Disease

    Science.gov (United States)

    ... ears and head) special tests that check your balance and how well your ears work. Can Meniere’s disease be prevented or avoided? Because ... find ways to limit the stress in your life or learn how to deal with stress ... Let your family, friends, and co-workers know about the disease. Tell ...

  9. Parasitic diseases

    International Nuclear Information System (INIS)

    Rozenshtraukh, L.S.

    1983-01-01

    Foundations of roentgenological semiotics of parasitic diseases of lungs, w hich are of the greatest practical value, are presented. Roentgenological pictu res of the following parasitic diseases: hydatid and alveolar echinococcosis, pa ragonimiasis, toxoplasmosis, ascariasis, amebiasis, bilharziasis (Schistosomias is) of lungs, are considered

  10. Angara disease

    African Journals Online (AJOL)

    Jane

    2011-10-12

    Oct 12, 2011 ... 1988). Since the disease emerged in this specific geographic area, HHS was initially referred to as “Angara. Disease”. The disease is caused by an avian adenovirus serotype-iv in Pakistan. This virus is responsible for development of intranuclear inclusion bodies in the cells of liver, pancreas and kidneys.

  11. Huntington's Disease

    Science.gov (United States)

    ... monitor a disease) for HD. A large and related NINDS-supported study aims to identify additional genetic factors in people that influence the course of the disease. Other research hopes to identify variations in the genomes of individuals with HD that may point to new targets ...

  12. Coeliac disease

    African Journals Online (AJOL)

    2013-03-08

    Mar 8, 2013 ... Two factors are involved in the development of coeliac disease, namely the ... degradation by gastric, pancreatic and intestinal brush ... epithelial layer with chronic inflammatory cells in patients ... Coeliac disease increases the risk of malignancies, such as small bowel adenocarcinoma and enteropathy-.

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

    Directory of Open Access Journals (Sweden)

    Bruno Camargo Tiseo

    2016-02-01

    Full Text Available 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.

  14. INVASIVE AMOEBIASIS COMPLICATING IFLAMMATORY BOWEL DISEASE

    Directory of Open Access Journals (Sweden)

    Ziglam H

    2007-01-01

    Full Text Available INTRODUCTIONAmoebiasis, which is caused by the intestinal protozoan Entamoeba histolytica, is a ubiquitous parasitic infection affecting approximately 10% of the world’s population and causing more deaths every year (100,000 deaths than any other parasitic infection, with the exception of malaria and schistosomiasis [1–3]. Most individuals with an E. histolytica infection are asymptomatic, but some develop severe invasive disease, such as amoebic colitis. Other manifestations, such as pulmonary, cardiac or brain involvement, are rare. Intestinal amoebiasis can probably also present as a chronic, non-dysenteric syndrome of diarrhoea, weight loss, and abdominal pain that can last for years and mimic inflammatory bowel disease. Fulminant colitis with bowel necrosis leading to perforation and peritonitis occurs in only about 0.5% of cases, but it is associated with a mortality rate of more than 40%. Patients with invasive amoebiasis living in the United Kingdom and other developed countries generally acquire the infection in another country in which the pathogenic species is endemic. Areas that have high rates of amoebic infection include India, Africa, Mexico and parts of Central and South America. Infection with pathogenic E. histolytica is not a common cause of travelers’ diarrhoea, and gastrointestinal infection is uncommon in travelers who have spent less than one month in endemic areas.

  15. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo

    2014-08-01

    Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

  16. Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

    Science.gov (United States)

    Miconi, Francesco; Savarese, Emanuela; Miconi, Giovanni; Cabiati, Gabriele; Rapaccini, Valentina; Principi, Nicola; Esposito, Susanna

    2017-07-29

    Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

  17. Pediatric Interstitial Lung Disease Masquerading as Difficult Asthma: Management Dilemmas for Rare Lung Disease in Children

    Directory of Open Access Journals (Sweden)

    EY Chan

    2005-01-01

    Full Text Available Idiopathic nontransplant-related childhood bronchiolitis obliterans is an uncommon disease. Most patients present with chronic recurrent dyspnea, cough and wheezing, which are also features of asthma, by far a much more common condition. The present case study reports on a six-year-old girl who presented to a tertiary care centre with recurrent episodes of respiratory distress on a background of baseline tachypnea, chronic hypoxemia and exertional dyspnea. Her past medical history revealed significant lung disease in infancy, including respiratory syncytial virus bronchiolitis and repaired gastroesophageal reflux. She was treated for 'asthma exacerbations' throughout her early childhood years. Bronchiolitis obliterans was subsequently diagnosed with an open lung biopsy. She did not have sustained improvement with systemic corticosteroids, hydroxychloroquine or clarithromycin. Cardiac catheterization confirmed the presence of secondary pulmonary hypertension. Treatment options remain a dilemma for this patient because there is no known effective treatment for this condition, and the natural history is not well understood. The present case demonstrates the need for careful workup in 'atypical asthma', and the urgent need for further research into the rare lung diseases of childhood.

  18. Refractory disease in autoimmune diseases

    NARCIS (Netherlands)

    Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda

    Refractory disease (RD) definition has different meanings but it is dynamic, according to knowledge and the availability of new drugs. It should be differentiated from severe disease and damage definitions and it must take into account duration of adequate therapy and compliance of the patient. It

  19. Thyroid diseases and cerebrovascular disease

    NARCIS (Netherlands)

    Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.

    2005-01-01

    Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

  20. Morgellons Disease.

    Science.gov (United States)

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-04-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.

  1. [Infectious diseases].

    Science.gov (United States)

    Chapuis-Taillard, Caroline; de Vallière, Serge; Bochud, Pierre-Yves

    2009-01-07

    In 2008, several publications have highlighted the role of climate change and globalization on the epidemiology of infectious diseases. Studies have shown the extension towards Europe of diseases such as Crimea-Congo fever (Kosovo, Turkey and Bulgaria), leismaniosis (Cyprus) and chikungunya virus infection (Italy). The article also contains comments on Plasmodium knowlesi, a newly identified cause of severe malaria in humans, as well as an update on human transmission of the H5NI avian influenza virus. It also mentions new data on Bell's palsy as well as two vaccines (varicella-zoster and pneumococcus), and provides a list of recent guidelines for the treatment of common infectious diseases.

  2. Hirschsprung disease.

    Science.gov (United States)

    Haricharan, Ramanath N; Georgeson, Keith E

    2008-11-01

    Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity and improved outcomes.

  3. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus

    2012-02-03

    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  4. Norries disease

    Directory of Open Access Journals (Sweden)

    Saini J

    1992-01-01

    Full Text Available A 2-month-old male infant was found to have Norrie′s disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie′s disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.

  5. Diverticular disease of the right colon

    Directory of Open Access Journals (Sweden)

    Boutross-Tadross Odette

    2011-10-01

    Full Text Available Abstract Background The incidence of colonic diverticular disease varies with national origin, cultural background and diet. The frequency of this disease increases with advancing age. Right-sided diverticular disease is uncommon and reported to occur in 1-2% of surgical specimens in European and American series. In contrast the disease is more prevalent and reported in 43-50% of specimens in Asian series. Various lines of evidence suggest this variation may represent hereditary differences. The aim of the study is to report all cases of right sided diverticular disease underwent surgical resection or identified during pathological examination of right hemicoloectomy specimens Methods A retrospective review of all surgical specimens with right sided colonic diverticular disease selected from a larger database of all colonic diverticulosis and diverticulitis surgical specimen reported between January 1993 and December 2010 at the Pathology Department McMaster University Medical Centre Canada. The clinical and pathological features of these cases were reviewed Results The review identified 15 cases of right colon diverticulosis. The clinical diagnoses of these cases were appendicitis, diverticulitis or adenocarcinoma. Eight cases of single congenital perforated diverticuli were identified and seven cases were incidental multiple acquired diverticuli found in specimen resected for right side colonic carcinomas/large adenomas. Laparotomy or laparoscopic assisted haemicolectomies were done for all cases. Pathological examination showed caecal wall thickening with inflammation associated with perforated diverticuli. Histology confirmed true solitary diverticuli that exhibited in two cases thick walled vessels in the submucosa and muscular layer indicating vascular malformation/angiodysplasia. Acquired diverticuli tend to be multiple and are mostly seen in specimens resected for neoplastic right colon diseases. Conclusion Single true diverticular

  6. Diverticular disease of the right colon.

    Science.gov (United States)

    Radhi, Jasim M; Ramsay, Jennifer A; Boutross-Tadross, Odette

    2011-10-06

    The incidence of colonic diverticular disease varies with national origin, cultural background and diet. The frequency of this disease increases with advancing age. Right-sided diverticular disease is uncommon and reported to occur in 1-2% of surgical specimens in European and American series. In contrast the disease is more prevalent and reported in 43-50% of specimens in Asian series. Various lines of evidence suggest this variation may represent hereditary differences. The aim of the study is to report all cases of right sided diverticular disease underwent surgical resection or identified during pathological examination of right hemicoloectomy specimens A retrospective review of all surgical specimens with right sided colonic diverticular disease selected from a larger database of all colonic diverticulosis and diverticulitis surgical specimen reported between January 1993 and December 2010 at the Pathology Department McMaster University Medical Centre Canada. The clinical and pathological features of these cases were reviewed The review identified 15 cases of right colon diverticulosis. The clinical diagnoses of these cases were appendicitis, diverticulitis or adenocarcinoma. Eight cases of single congenital perforated diverticuli were identified and seven cases were incidental multiple acquired diverticuli found in specimen resected for right side colonic carcinomas/large adenomas. Laparotomy or laparoscopic assisted haemicolectomies were done for all cases. Pathological examination showed caecal wall thickening with inflammation associated with perforated diverticuli. Histology confirmed true solitary diverticuli that exhibited in two cases thick walled vessels in the submucosa and muscular layer indicating vascular malformation/angiodysplasia. Acquired diverticuli tend to be multiple and are mostly seen in specimens resected for neoplastic right colon diseases. Single true diverticular disease of the right colon is usually of congenital type and affects

  7. Blount disease

    Science.gov (United States)

    ... Unlike bowlegs , which tend to straighten as the child develops, Blount disease slowly gets worse. It can cause severe bowing of one or both legs. This condition is more common among African American children. It is also associated with obesity ...

  8. Pneumococcal Disease

    Science.gov (United States)

    ... pneumococcal disease kills one in every four to five people over the age of 65 who gets it. ... A second PPSV23 vaccine is recommended for these persons five years after the first PPSV23. CDC recommends only ...

  9. Behcet's Disease

    Science.gov (United States)

    ... this research; and the dissemination of information on research progress in these diseases. Contact Us NIAMS Archive Viewers and Players Social Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy ...

  10. Coeliac disease

    DEFF Research Database (Denmark)

    Reilly, Norelle R; Husby, Steffen; Sanders, David S

    2018-01-01

    Coeliac disease is increasingly recognized as a global problem in both children and adults. Traditionally, the findings of characteristic changes of villous atrophy and increased intraepithelial lymphocytosis identified in duodenal biopsy samples taken during upper gastrointestinal endoscopy have...... been required for diagnosis. Although biopsies remain advised as necessary for the diagnosis of coeliac disease in adults, European guidelines for children provide a biopsy-sparing diagnostic pathway. This approach has been enabled by the high specificity and sensitivity of serological testing. However......, these guidelines are not universally accepted. In this Perspective, we discuss the pros and cons of a biopsy-avoiding pathway for the diagnosis of coeliac disease, especially in this current era of the call for more biopsies, even from the duodenal bulb, in the diagnosis of coeliac disease. In addition, a contrast...

  11. Addison disease

    Science.gov (United States)

    Symptoms of Addison disease include: Chronic diarrhea, nausea, and vomiting Darkening of the skin in some places Dehydration Dizziness when standing up Low-grade fever Extreme weakness , fatigue , and slow, sluggish movement Darker ...

  12. Alpers' Disease

    Science.gov (United States)

    ... underlying liver disease, failure to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or group of muscles), seizures, or liver failure. An increased protein level is seen in ...

  13. Heart Disease

    Science.gov (United States)

    ... it may be caused by diseases, such as connective tissue disorders, excessive iron buildup in your body (hemochromatosis), the buildup of abnormal proteins (amyloidosis) or by some cancer treatments. Causes of heart infection A heart infection, ...

  14. Alexander Disease

    Science.gov (United States)

    ... Administrator Channels Synapses Circuits Cluster Neurosurgery Research Fellowships Scientific Director, Division of Intramural Research ... Disease Information Page What research is being done? Recent discoveries show that most individuals (approximately 90 percent) with ...

  15. Retinal Diseases

    Science.gov (United States)

    ... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... central portion of the retina called the macula. Usher Syndrome Usher syndrome is an inherited condition characterized by ...

  16. Sever's Disease

    Science.gov (United States)

    ... boys 10 years to 12 years of age. Soccer players and gymnasts often get Sever’s disease, but ... Crisis Situations Pets and Animals myhealthfinder Food and Nutrition Healthy Food Choices Weight Loss and Diet Plans ...

  17. Parkinson disease

    Science.gov (United States)

    ... The disease leads to shaking ( tremors ) and trouble walking and moving . ... include: Difficulty starting movement, such as starting to walk or ... are not moving. This is called resting tremor. Occur when your ...

  18. Behcet's Disease

    Science.gov (United States)

    ... organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal ...

  19. Thyroid Diseases and Treatment in Pregnancy

    Directory of Open Access Journals (Sweden)

    Aynur Aktaş

    2016-03-01

    Full Text Available Assessment of thyroid disease in pregnancy is important for gestational maternal health, obstetric outcome and, subsequent development of child. Pregnancy has pro­found effects on the regulation of thyroid function, and on thyroidal functional disorders, that need to be recognized, carefully evaluated and correctly managed. In women with normal thyroid function there is an increase in thyroxine (T4 and triiodothyronine (T3 production and inhibition of thyroid-stimulating hormone (TSH in the first trimester of pregnancy,. In the pregnant woman, elevated thyroxine-binding globulin (TGB and concomitant increases in total T4 and T3 levels plateau at 12-14 weeks of pregnancy, and free T4 measurements slowly decrease. The most frequent thyroid disorder in pregnancy is maternal hy­pothyroidism. It is associated with fetal loss, placental abruptions, preeclampsia, preterm delivery and reduced intellectual function in the offspring. Hyperthyroidism dur­ing pregnancy is relatively uncommon, with a prevalence estimated to range between 0.1% and 1%. The most common cause of hyperthyroidism is Graves disease, as this etiology accounts for 85% of clinical hyperthyroid­ism in pregnancy. Another cause of hyperthyroidism is hyperemesis gravidarum. This is common and requires differentiation from Graves disease. There has been much discussion and many publications on the optimal management of pregnant women who are hyperthyroid or hypothyroid. Despite the lack of consensus organiza­tions, which are based on analyses, support screening in all pregnant women in the first trimester for thyroid disease. In this article, we provide information about the current approaches of thyroid dysfunction in pregnancy. J Clin Exp Invest 2016; 7 (1: 120-124

  20. Extrapyramidal disease

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    2010380 Evaluation non-motor symptoms in Parkinson’s disease and its influence on ability of daily living. WANG Rongfei(王荣飞),et al. Dept Neurol,1st Hosp,Guangzhou Med Coll,Guangzhou 510000. Chin J Neurol 2010;43(4):273-276. Objective To evaluate the non-motor symptoms (NMS) in Parkinson’s disease (PD),and its influence on ability of daily living (ADL) in PD

  1. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B

    2010-01-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...... of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms....

  2. Elm diseases

    Science.gov (United States)

    John W. Peacock

    1989-01-01

    Dutch elm disease was found in Cleveland, Ohio, in 1930, and is now in most of the contiguous 48 states. The disease is caused by a fungus that has killed millions of wild and planted elms. Losses have been the greatest in the eastern United States. The fungus attacks all elms, but our native species, American, slippery, and rock elm have little or no resistance to the...

  3. Enterovesical fistulas complicating Crohn's disease: clinicopathological features and management.

    Science.gov (United States)

    Yamamoto, T; Keighley, M R

    2000-08-01

    Enterovesical fistula is a relatively rare condition in Crohn's disease. This study was undertaken to examine clinicopathological features and management of enterovesical fistula complicating Crohn's disease. Thirty patients with enterovesical fistula complicating Crohn's disease, treated between 1970 and 1997, were reviewed. Urological symptoms were present in 22 patients; pneumaturia in 18, urinary tract infection in 7, and haematuria in 2. In 5 patients clinical symptoms were successfully managed by conservative treatment, and they required no surgical treatment for enterovesical fistula. Twenty-five patients required surgery. All the patients were treated by resection of diseased bowel and pinching off the dome of the bladder. No patients required resection of the bladder. The Foley catheter was left in situ for an average of 2 weeks after operation. Three patients developed early postoperative complications; two bowel anastomotic leaks, and one intra-abdominal abscess. All these complications were associated with sepsis and multiple fistulas at the time of laparotomy. After a median follow-up of 13 years, 3 patients having postoperative sepsis (anastomotic leak or abscess) developed a recurrent fistula from the ileocolonic anastomosis to the bladder, which required further surgery. In the other 22 patients without postoperative complications there has been no fistula recurrence. In conclusion, the majority of patients with enterovesical fistula required surgical treatment: resection of the diseased bowel and oversewing the defect in the bladder. The fistula recurrence was uncommon, but the presence of sepsis and multiple fistulas at the time of laparotomy increased the incidence of postoperative complications and fistula recurrence.

  4. Kikuchi-Fujimoto disease: Clinical and laboratory characteristics and outcome

    Directory of Open Access Journals (Sweden)

    P S Rakesh

    2014-01-01

    Full Text Available Introduction: Kikuchi-Fujimoto disease is an uncommon disorder with worldwide distribution, characterized by fever and benign enlargement of the lymph nodes, primarily affecting young adults. Awareness about this disorder may help prevent misdiagnosis and inappropriate investigations and treatment. The objective of the study was to evaluate the clinical and laboratory characteristics of histopathologically confirmed cases of Kikuchi′s disease from a tertiary care center in southern India. Materials and Methods: Retrospective analysis of all adult patients with histopathologically confirmed Kikuchi′s disease from January 2007 to December 2011 in a 2700-bed teaching hospital in South India was done. The clinical and laboratory characteristics and outcome were analyzed. Results: There were 22 histopathologically confirmed cases of Kikuchi′s disease over the 5-year period of this study. The mean age of the subjects′ was 29.7 years (SD 8.11 and majority were women (Male: female- 1:3.4. Apart from enlarged cervical lymph nodes, prolonged fever was the most common presenting complaint (77.3%. The major laboratory features included anemia (54.5%, increased erythrocyte sedimentation rate (31.8%, elevated alanine aminotransferase (27.2% and elevated lactate dehydrogenase (LDH (31.8%. Conclusion: Even though rare, Kikuchi′s disease should be considered in the differential diagnosis of young individuals, especially women, presenting with lymphadenopathy and prolonged fever. Establishing the diagnosis histopathologically is essential to avoid inappropriate investigations and therapy.

  5. Imaging of carotid artery disease: from luminology to function?

    Energy Technology Data Exchange (ETDEWEB)

    Gillard, J.H. [University Department of Radiology, Addenbrooke' s Hospital, Cambridge (United Kingdom)

    2003-10-01

    There have been tremendous advances in our ability to image atheromatous disease, particularly in the carotid artery, which is accessible and large enough to image. The repertoire of methodology available is growing, giving anatomical information on luminal narrowing which is approaching the level at which conventional carotid angiography will become very uncommon as CT and contrast-enhanced MR angiographic techniques become the norm. More exciting is the tentative ability to perform functional plaque imaging addressing enhancement patterns and macrophage activity using MR or positron-emission tomography techniques. These techniques, once rigorously evaluated, may, in addition to complex mathematical modelling of plaque, eventually allow us to assess true plaque risk. Time will best judge whether we will be able to move from the use of simple luminology to assessment of plaque function. (orig.)

  6. Imaging of carotid artery disease: from luminology to function?

    International Nuclear Information System (INIS)

    Gillard, J.H.

    2003-01-01

    There have been tremendous advances in our ability to image atheromatous disease, particularly in the carotid artery, which is accessible and large enough to image. The repertoire of methodology available is growing, giving anatomical information on luminal narrowing which is approaching the level at which conventional carotid angiography will become very uncommon as CT and contrast-enhanced MR angiographic techniques become the norm. More exciting is the tentative ability to perform functional plaque imaging addressing enhancement patterns and macrophage activity using MR or positron-emission tomography techniques. These techniques, once rigorously evaluated, may, in addition to complex mathematical modelling of plaque, eventually allow us to assess true plaque risk. Time will best judge whether we will be able to move from the use of simple luminology to assessment of plaque function. (orig.)

  7. Metachronous Paget's disease of the breast: case report.

    Science.gov (United States)

    Gubitosi, A; Moccia, G; Malinconico, F A; Iside, G; Gilio, F; Cognetti, C; Foroni, F; Docimo, G; Ruggiero, R; Docimo, L; Agresti, M

    2009-04-01

    Paget breast disease is a kind of intraductal carcinoma that through an intracanalicular diffusion invades the basal epidermal layer, reaching the areola and nipple, producing a typical erythematous desquamative eczematous-like lesion. This neoplasia can remain undetected for a long time and inadequately treated as a dermatological affection. Synchronous or metachronous lesions are very uncommon. Surgical choice is conditioned by the presence of a tumor below the epidermal lesion, by its dimensions, and by the possible lymph node involvement. Surgical therapy can be radical or conservative. From our experience we think that lesion biopsy is always necessary to formulate a correct diagnosis and to schedule an appropriate therapeutic approach. In our case, a biopsy was performed first, then on the basis of the frozen section analysis a radical mastectomy with axillary third level lymph nodes dissection, because of the large dimensions of the lesion and the previous history of a methachronous lesion.

  8. Ollier disease

    Directory of Open Access Journals (Sweden)

    Jüppner Harald

    2006-09-01

    Full Text Available Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology. The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery. Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation. The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.

  9. Idiopathic inflammatory-demyelinating diseases of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Rovira Canellas, A. [Vall d' Hebron University Hospital, Magnetic Resonance Unit (I.D.I.), Department of Radiology, Barcelona (Spain); Rovira Gols, A. [Parc Tauli University Institute - UAB, UDIAT, Diagnostic Centre, Sabadell (Spain); Rio Izquierdo, J.; Tintore Subirana, M.; Montalban Gairin, X. [Vall d' Hebron University Hospital, Neuroimmunology Unit, Department of Neurology, Barcelona (Spain)

    2007-05-15

    Idiopathic inflammatory-demyelinating diseases (IIDDs) include a broad spectrum of central nervous system disorders that can usually be differentiated on the basis of clinical, imaging, laboratory and pathological findings. However, there can be a considerable overlap between at least some of these disorders, leading to misdiagnoses or diagnostic uncertainty. The relapsing-remitting and secondary progressive forms of multiple sclerosis (MS) are the most common IIDDs. Other MS phenotypes include those with a progressive course from onset (primary progressive and progressive relapsing) or with a benign course continuing for years after onset (benign MS). Uncommon forms of IIDDs can be classified clinically into: (1) fulminant or acute IIDDs, such as the Marburg variant of MS, Balo's concentric sclerosis, Schilder's disease, and acute disseminated encephalomyelitis; (2) monosymptomatic IIDDs, such as those involving the spinal cord (transverse myelitis), optic nerve (optic neuritis) or brainstem and cerebellum; and (3) IIDDs with a restricted topographical distribution, including Devic's neuromyelitis optica, recurrent optic neuritis and relapsing transverse myelitis. Other forms of IIDD, which are classified clinically and radiologically as pseudotumoral, can have different forms of presentation and clinical courses. Although some of these uncommon IIDDs are variants of MS, others probably correspond to different entities. MR imaging of the brain and spine is the imaging technique of choice for diagnosing these disorders, and together with the clinical and laboratory findings can accurately classify them. Precise classification of these disorders may have relevant prognostic and treatment implications, and might be helpful in distinguishing them from tumoral or infectious lesions, avoiding unnecessary aggressive diagnostic or therapeutic procedures. (orig.)

  10. Idiopathic inflammatory-demyelinating diseases of the central nervous system

    International Nuclear Information System (INIS)

    Rovira Canellas, A.; Rovira Gols, A.; Rio Izquierdo, J.; Tintore Subirana, M.; Montalban Gairin, X.

    2007-01-01

    Idiopathic inflammatory-demyelinating diseases (IIDDs) include a broad spectrum of central nervous system disorders that can usually be differentiated on the basis of clinical, imaging, laboratory and pathological findings. However, there can be a considerable overlap between at least some of these disorders, leading to misdiagnoses or diagnostic uncertainty. The relapsing-remitting and secondary progressive forms of multiple sclerosis (MS) are the most common IIDDs. Other MS phenotypes include those with a progressive course from onset (primary progressive and progressive relapsing) or with a benign course continuing for years after onset (benign MS). Uncommon forms of IIDDs can be classified clinically into: (1) fulminant or acute IIDDs, such as the Marburg variant of MS, Balo's concentric sclerosis, Schilder's disease, and acute disseminated encephalomyelitis; (2) monosymptomatic IIDDs, such as those involving the spinal cord (transverse myelitis), optic nerve (optic neuritis) or brainstem and cerebellum; and (3) IIDDs with a restricted topographical distribution, including Devic's neuromyelitis optica, recurrent optic neuritis and relapsing transverse myelitis. Other forms of IIDD, which are classified clinically and radiologically as pseudotumoral, can have different forms of presentation and clinical courses. Although some of these uncommon IIDDs are variants of MS, others probably correspond to different entities. MR imaging of the brain and spine is the imaging technique of choice for diagnosing these disorders, and together with the clinical and laboratory findings can accurately classify them. Precise classification of these disorders may have relevant prognostic and treatment implications, and might be helpful in distinguishing them from tumoral or infectious lesions, avoiding unnecessary aggressive diagnostic or therapeutic procedures. (orig.)

  11. Castleman's Disease: Report of Four Cases and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Seyed Hossein Fattahi Masoum

    2018-02-01

    Full Text Available Castleman’s disease (CD is a rare benign lymphoproliferative disorder with unknown etiology and pathogenesis. It presents in two identified clinical forms of unicentric or multicentric. The disease is usually found incidentally in the mediastinal or hilar region in asymptomatic patients. In unicentric CD, constitutional symptoms are uncommon, and they can be misdiagnosed as lung infections or malignancy. Although imaging studies are helpful, but definitive diagnosis can be made with pathologic examination. Complete surgical resection is the method of choice for treatment of localized CD, and the prognosis is excellent. In this study, we elucidate clinical features and therapeutic consequences of four cases of unicentric CD referred to our department and review the literature on the diagnosis and management of this relatively rare disorder. Because of the rarity of the disease and nonspecific signs and symptoms of CD it must be considered in differential diagnosis of pulmonary and mediastinal masses.

  12. Severe neuroinvasive West Nile virus infection in a child with undiagnosed Addison's disease

    Directory of Open Access Journals (Sweden)

    Kevin Messacar

    2014-01-01

    Full Text Available This report describes a case of West Nile virus (WNV meningoencephalitis in a child who presented with fever, headache, seizures, and altered mental status, as well as hyponatremia and bronzing of the skin. Findings that led to the diagnosis of WNV included plasma-cell pleocytosis of the cerebrospinal fluid (CSF and linear chorioretinitis on ophthalmologic exam. The diagnosis was confirmed by a positive serum and CSF WNV IgM. The acute WNV infection triggered an adrenal crisis which uncovered a new diagnosis of underlying Addison's disease. This is the first case report of severe neuroinvasive WNV disease in a pediatric patient with primary adrenal insufficiency. Neuroinvasive WNV disease is uncommon in children, but may have a more severe presentation in those with certain underlying medical conditions.

  13. Real-Time Assessment of Wellness and Disease in Daily Life.

    Science.gov (United States)

    Ausiello, Dennis; Lipnick, Scott

    2015-09-01

    The next frontier in medicine involves better quantifying human traits, known as "phenotypes." Biological markers have been directly associated with disease risks, but poor measurement of behaviors such as diet and exercise limits our understanding of preventive measures. By joining together an uncommonly wide range of disciplines and expertise, the Kavli HUMAN Project will advance measurement of behavioral phenotypes, as well as environmental factors that impact behavior. By following the same individuals over time, KHP will liberate new understanding of dynamic links between behavioral phenotypes, disease, and the broader environment. As KHP advances understanding of the bio-behavioral complex, it will seed new approaches to the diagnosis, prevention, and treatment of human disease.

  14. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

    Science.gov (United States)

    Grosse, Scott D; Gurrin, Lyle C; Bertalli, Nadine A; Allen, Katrina J

    2018-04-01

    Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.

  15. Pregnancy and Rheumatic Disease

    Science.gov (United States)

    ... with Rheumatic Disease Pregnancy & Rheumatic Disease Pregnancy and Rheumatic Disease Fast Facts Diseases with the potential to affect ... control. What are the effects of pregnancy on rheumatic disease? The effects of pregnancy on rheumatic diseases vary ...

  16. Crohn's disease.

    Science.gov (United States)

    von Roon, Alexander C; Reese, George E; Orchard, Timothy R; Tekkis, Paris P

    2007-11-07

    Crohn's disease is a long-term chronic condition of the gastrointestinal tract. It is characterised by transmural, granulomatous inflammation that occurs in a discontinuous pattern, with a tendency to form fistulae. The cause is unknown but may depend on interactions between genetic predisposition, environmental triggers, and mucosal immunity. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of medical treatments in adults to induce remission in Crohn's disease? What are the effects of lifestyle interventions in adults with Crohn's disease to maintain remission? What are the effects of surgical interventions in adults with small-bowel Crohn's disease to induce remission? What are the effects of surgical interventions in adults with colonic Crohn's disease to induce remission? What are the effects of medical interventions to maintain remission in adults with Crohn's disease; and to maintain remission following surgery? We searched: Medline, Embase, The Cochrane Library and other important databases up to March 2006 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 60 systematic reviews, RCTs, or observational studies that met our inclusion criteria. In this systematic review we present information relating to the effectiveness and safety of the following interventions: aminosalicylates, antibiotics, azathioprine/mercaptopurine, ciclosporin, corticosteroids (oral), enteral nutrition, fish oil, infliximab, methotrexate, probiotics, resection, segmental colectomy, smoking cessation, and strictureplasty.

  17. Dent's disease

    Directory of Open Access Journals (Sweden)

    Thakker Rajesh V

    2010-10-01

    Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

  18. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  19. Uncommon of the uncommon: Malignant Perivascular epithelioid cell tumor of the lung

    International Nuclear Information System (INIS)

    Lim, Hyun Ju; Lee, Ho Yun; Han, Joung Ho; Choi, Yong Soo; Lee, Kyung Soo

    2013-01-01

    A perivascular epithelioid cell (PEC) tumor is a rare mesenchymal tumor characterized by abundant cytoplasmic Periodic acid-Schiff positive glycogen (also called sugar tumor or clear cell tumor of the lung for this characteristic) and is mostly benign. We report a case of a 63-year-old man who presented with an enlarging mass on chest radiograph. After a thorough workup, diagnosis of malignant pulmonary PEC tumor with lung to lung metastases was established. Herein, the difficulties of diagnosis and management we confronted are described.

  20. Cardiac myxoma: An uncommon cause of recurrent stroke in uncommon age

    Directory of Open Access Journals (Sweden)

    Harish Kumar

    2015-01-01

    Full Text Available Atrial fibrillation is the most common cause of cardiogenic emboli in stroke, responsible for over 50% cases of total stroke patients. Myxoma is responsible only in few cases. A stroke caused by left atrial myxoma commonly occur in young females. This patient presented with the repeated attack of stroke in the age of 80 years. However, it is the most common benign cardiac tumor found more frequently. In young adults with stroke or transient ischemic attack than in older patients. Age of the patient and unusual cause of recurrent stroke make this case report interesting. An 80-year-old male with no other conventional vascular risk factors such as hypertension, diabetes, or hyperlipidemia presented with left hemiparesis. Infarction over the right middle cerebral artery was disclosed on a magnetic resonance imaging study. The patient was a known case of right hemiparesis 3 years back, which was improved. The cause of repeated attack of stroke was left atrial myxoma, diagnosed by two-dimensional echocardiography.

  1. Uncommon of the uncommon: Malignant Perivascular epithelioid cell tumor of the lung

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Hyun Ju; Lee, Ho Yun; Han, Joung Ho; Choi, Yong Soo; Lee, Kyung Soo [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2013-08-15

    A perivascular epithelioid cell (PEC) tumor is a rare mesenchymal tumor characterized by abundant cytoplasmic Periodic acid-Schiff positive glycogen (also called sugar tumor or clear cell tumor of the lung for this characteristic) and is mostly benign. We report a case of a 63-year-old man who presented with an enlarging mass on chest radiograph. After a thorough workup, diagnosis of malignant pulmonary PEC tumor with lung to lung metastases was established. Herein, the difficulties of diagnosis and management we confronted are described.

  2. Atypical presentation of multicentric Castleman disease in a pediatric patient: pleural and pericardial effusion.

    Science.gov (United States)

    Akman, Alkim Oden; Basaran, Ozge; Ozyoruk, Derya; Han, Unsal; Sayli, Tulin; Cakar, Nilgun

    2016-06-01

    Castleman disease (CD) is a rare poorly understood lymphoproliferative disorder. Pediatric onset CD has been reported before. However, most of them have benign unicentric pattern. Multicentric CD (MCD) is quite rare in children. Herein, we report a 13-year-old adolescent boy with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. MCD should be considered in the differential diagnosis of pleural and/or pericardial effusion with unexplained lymph nodes in children. What is Known •Pediatric Castleman disease (CD) most commonly occurs in the unicentric form, which typically is asymptomatic and cured by lymph node excision. •The diagnosis of MCD can be difficult owing to the heterogeneity of presentation and potential for nonspecific multisystem involvement. What is New •A 13-year-old adolescent boy was diagnosed with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. •In a pediatric patient with fever, pleural-pericardial effusion and multiple lymph nodes, MCD should be considered in differantial diagnosis.

  3. Comparison of sequencing the D2 region of the large subunit ribosomal RNA gene (MicroSEQ®) versus the internal transcribed spacer (ITS) regions using two public databases for identification of common and uncommon clinically relevant fungal species.

    Science.gov (United States)

    Arbefeville, S; Harris, A; Ferrieri, P

    2017-09-01

    Fungal infections cause considerable morbidity and mortality in immunocompromised patients. Rapid and accurate identification of fungi is essential to guide accurately targeted antifungal therapy. With the advent of molecular methods, clinical laboratories can use new technologies to supplement traditional phenotypic identification of fungi. The aims of the study were to evaluate the sole commercially available MicroSEQ® D2 LSU rDNA Fungal Identification Kit compared to the in-house developed internal transcribed spacer (ITS) regions assay in identifying moulds, using two well-known online public databases to analyze sequenced data. 85 common and uncommon clinically relevant fungi isolated from clinical specimens were sequenced for the D2 region of the large subunit (LSU) of ribosomal RNA (rRNA) gene with the MicroSEQ® Kit and the ITS regions with the in house developed assay. The generated sequenced data were analyzed with the online GenBank and MycoBank public databases. The D2 region of the LSU rRNA gene identified 89.4% or 92.9% of the 85 isolates to the genus level and the full ITS region (f-ITS) 96.5% or 100%, using GenBank or MycoBank, respectively, when compared to the consensus ID. When comparing species-level designations to the consensus ID, D2 region of the LSU rRNA gene aligned with 44.7% (38/85) or 52.9% (45/85) of these isolates in GenBank or MycoBank, respectively. By comparison, f-ITS possessed greater specificity, followed by ITS1, then ITS2 regions using GenBank or MycoBank. Using GenBank or MycoBank, D2 region of the LSU rRNA gene outperformed phenotypic based ID at the genus level. Comparing rates of ID between D2 region of the LSU rRNA gene and the ITS regions in GenBank or MycoBank at the species level against the consensus ID, f-ITS and ITS2 exceeded performance of the D2 region of the LSU rRNA gene, but ITS1 had similar performance to the D2 region of the LSU rRNA gene using MycoBank. Our results indicated that the MicroSEQ® D2 LSU r

  4. Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

    Directory of Open Access Journals (Sweden)

    Leila El Matri

    2013-01-01

    Full Text Available Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease.

  5. Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease?

    Science.gov (United States)

    McNamara, Kate L; Aronson, Melyssa D; Cohen, Zane

    2016-01-01

    Lynch syndrome and chronic inflammatory bowel disease are two important risk factors for colorectal cancer. It is unclear whether Lynch syndrome patients with inflammatory bowel disease are at sufficiently increased risk for colorectal cancer to warrant prophylactic colectomy. This study aims to identify all cases of Lynch syndrome and concurrent inflammatory bowel disease in a large familial gastrointestinal cancer registry, define incidence of colorectal cancer, and characterize mismatch repair protein gene mutation status and inflammatory bowel disease-associated colorectal cancer risk factors. We retrospectively identified and collected clinical data for all cases with confirmed diagnoses of Lynch syndrome and inflammatory bowel disease in the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada. Twelve cases of confirmed Lynch syndrome, and concurrent inflammatory bowel disease were identified. Four cases developed colorectal cancer. An additional five cases had colectomy; one was performed for severe colitis, and four were performed for low-grade dysplasia. None of these surgical specimens contained malignancy or high-grade dysplasia. The presentation of Lynch syndrome with inflammatory bowel disease is uncommon and not well described in the literature. This small but important series of twelve cases is the largest reported to date. In this series, patients with Lynch syndrome and concurrent inflammatory bowel disease do not appear to have sufficiently increased risk for colorectal cancer to recommend prophylactic surgery. Therefore, the decision to surgery should continue to be guided by surgical indications for each disease. Further evaluation of this important area will require multi-institutional input.

  6. Hashimoto's Disease

    Science.gov (United States)

    ... diagnosed with hypothyroidism or had not yet started treatment for hypothyroidism. 4 Problems during pregnancy. The unborn baby's brain ... can last up to a year and requires treatment. Most often, thyroid function returns to normal as the ... from Hashimoto's disease treated during pregnancy? During pregnancy, ...

  7. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo

    2013-09-01

    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  8. Parkinson's Disease

    Science.gov (United States)

    ... a long and relatively healthy life. What Causes Parkinson's Disease? In the very deep parts of the brain, there is a collection of nerve cells that help control movement, known as the basal ganglia (say: BAY-sul GAN-glee-ah). In a ...

  9. Grover's Disease

    Science.gov (United States)

    ... Information for Authors Information for Reviewers Human & Animal Rights Job Postings Sections of the ... dermatosis) is a condition that appears suddenly as itchy red spots on the trunk, most often in older men. Minor cases of Grover's disease may be rather common. ...

  10. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  11. Canavan disease

    Science.gov (United States)

    ... affects how the body breaks down and uses aspartic acid . ... scan Head MRI scan Urine chemistry for elevated aspartic acid ... Matalon KM, Matalon RK. Aspartic acid (Canavan disease). In: ... JW III, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. ...

  12. DEVIC'S DISEASE

    African Journals Online (AJOL)

    had been poor in the right eye and he had found it hard to pass urine. ... right optic:-nerve disease, and was followed in 1880 by mention pupil was large and reacted very sluggishly to light, and the left .... The enzyme theory is that an enzyme-.

  13. Wilson's Disease

    Science.gov (United States)

    ... yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) Fluid buildup ... is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the ...

  14. Quetiapine effective in treatment of inappropriate sexual behavior of lewy body disease with predominant frontal lobe signs.

    Science.gov (United States)

    Prakash, Ravi; Pathak, Amit; Munda, Sanjay; Bagati, Dhruv

    2009-01-01

    Dementia of Lewy body disease is the second most common degenerative cause of dementia after Alzheimer's disease, among all the dementias. The core features are a progressive dementia, fluctuations in cognitive functions, visual hallucinations, and spontaneous parkinsonism. Rapid eye movement sleep behavior disorder, severe neuroleptic sensitivity, and low dopamine transporter uptake in basal ganglia are other suggestive features. Behavioral abnormalities are commonly present in the form of aggressive behavior, irritability, and uninhibited behaviors. These are mostly seen in the advanced stages of dementia. However, inappropriate sexual behavior is uncommonly seen in such cases. Three types of inappropriate sexual behaviors commonly found in cases of dementia are sex talks, sexual acts, and implied sexual acts. Such inappropriate sexual behaviors have not been described adequately in dementia of Lewy body disease. We report inappropriate sexual behaviors in a case of dementia of Lewy body disease, which improved rapidly after treatment with quetiapine.

  15. Pin Worms Presenting as Suspected Crohn’s Disease

    Science.gov (United States)

    Al-Saffar, Farah; Najjar, Nimeh; Ibrahim, Saif; Clark, Matthew

    2015-01-01

    Patient: Female, 24 Final Diagnosis: Pinworms infection Symptoms: Abdominal pain • bloating Medication: — Clinical Procedure: Colonoscopy and biopsy Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Inflammatory bowel disease (IBD) is well recognized in developed countries and is generally among the differential diagnoses of young patients presenting with refractory diarrhea once other more common etiologies have been excluded. Pinworm infections, on the other hand, are not as common among adults in the United States. Case Report: Based on computed tomography features, a 24-year-old female patient with a history of multiple autoimmune disorders presented with abdominal pain and was diagnosed recently with Crohn’s disease. Colonoscopy was significant for pinworms seen throughout the colon. Colonic biopsy was negative for inflammatory bowel disease (IBD)-related changes. Conclusions: The diagnosis of IBD is a serious label that requires biopsy confirmation before committing to possibly lifelong treatment and possible adverse effects. Even in the most typical patient and when the presentation and imaging are classical, uncommon conditions (like Enterobius infection in this case) may preclude appropriate diagnosis and management. PMID:26471462

  16. Interventional Cardiology for Congenital Heart Disease.

    Science.gov (United States)

    Kenny, Damien

    2018-05-01

    Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth. Increasing parental and physician expectancy has inevitably lead to higher risk interventions on smaller infants and appreciation of the consequences of these interventions on departmental outcome data needs to be considered. Registry data evaluating congenital heart interventions remain less robust than surgical registries, leading to a lack of insight into the longer-term consequences of our interventions. Increasing collaboration with surgical colleagues has not been met with necessary development of dedicated equipment for hybrid interventions aimed at minimizing the longer-term consequences of scar to the heart. Therefore, great challenges remain to ensure children and adults with congenital heart disease continue to benefit from an exponential growth in minimally invasive interventions and technology. This can only be achieved through a concerted collaborative approach from physicians, industry, academia and regulatory bodies supporting great innovators to continue the philosophy of thinking beyond the limits that has been the foundation of our specialty for the past 50 years. Copyright © 2018. The Korean Society of Cardiology.

  17. Spontaneous pneumothorax in diffuse cystic lung diseases.

    Science.gov (United States)

    Cooley, Joseph; Lee, Yun Chor Gary; Gupta, Nishant

    2017-07-01

    Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, and pulmonary Langerhans cell histiocytosis. DCLDs are responsible for approximately 10% of apparent primary spontaneous pneumothoraces. Computed tomography screening for DCLDs (Birt-Hogg-Dubé syndrome, lymphangioleiomyomatosis, and pulmonary Langerhans cell histiocytosis) following the first spontaneous pneumothorax has recently been shown to be cost-effective and can help facilitate early diagnosis of the underlying disorders. Patients with DCLD-associated spontaneous pneumothorax have a very high rate of recurrence, and thus pleurodesis should be considered following the first episode of spontaneous pneumothorax in these patients, rather than waiting for a recurrent episode. Prior pleurodesis is not a contraindication to future lung transplant. Although DCLDs are uncommon, spontaneous pneumothorax is often the sentinel event that provides an opportunity for diagnosis. By understanding the burden and implications of pneumothoraces in DCLDs, clinicians can facilitate early diagnosis and appropriate management of the underlying disorders.

  18. Morgellons disease?

    Science.gov (United States)

    Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John

    2008-01-01

    Morgellons disease, a pattern of dermatologic symptoms very similar, if not identical, to those of delusions of parasitosis, was first described many centuries ago, but has recently been given much attention on the internet and in the mass media. The present authors present a history of Morgellons disease, in addition to which they discuss the potential benefit of using this diagnostic term as a means of building trust and rapport with patients to maximize treatment benefit. The present authors also suggest "meeting the patient halfway" and creating a therapeutic alliance when providing dermatologic treatment by taking their cutaneous symptoms seriously enough to provide both topical ointments as well as antipsychotic medications, which can be therapeutic in these patients.

  19. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina

    2015-01-01

    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins......, which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers......, and identification of specific HLA haplotypes may contribute to CD diagnosis. Classical CD presents with diarrhoea and weight loss, but non-classical CD with vague or extraintestinal symptoms is common. The treatment for CD is a lifelong gluten-free diet (GFD), which, in the majority of patients, normalises...

  20. disease patient

    Directory of Open Access Journals (Sweden)

    Setareh Mamishi

    2016-09-01

    Full Text Available Background and Purpose: Chronic granulomatous disease (CGD is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (NADPH oxidase complex. This disorder results in recurrent life-threatening bacterial and fungal infections. Aspergillus species are the most common fungal infections in these patients. Case Report: Herein, we present a case of fungal infection in a girl with CGD. We confirmed aspergillosis through the positive microscopic and macroscopic examinations, as well as radiology results. Invasive aspergillosis in this patient with pneumonia, lung abscess, and osteomyelitis of the ribs was not initially treated with amphotericin B (Am B and recombinant interferon-gamma. Conclusion: Among infectious diseases, fungal infections, in particular aspergillosis, remain a serious problem in CGD patients. Considering poor clinical response and deficient immune system, rapid diagnosis of fungal infection and optimizing the treatment of these patients are recommended.