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1

A common presentation to an uncommon disease. Penile Mondor's disease: a case report and literature review  

PubMed Central

Penile Mondor’s disease, or superficial thrombophlebitis of the dorsal vein of the penis, is a relatively uncommon but potentially anxiety-inducing self-limiting condition that should be easily recognizable by any primary care practitioner. It typically presents with a cord-like mass and pain to the dorsal penis and has a myriad of causes, including trauma, excessive sexual activity, excessive exercise, or malignancy. Although Penile Mondor’s disease is typically a clinical diagnosis, Doppler ultrasound is the initial imaging modality of choice if there is question or doubt about the diagnosis. Accurate diagnosis and reassurance about the condition’s benign and self-limiting nature assuages most patients’ fears. Treatment is primarily symptomatic but may vary depending on possible underlying disease processes. PMID:25382986

Walsh, John C; Poimboeuf, Sabre; Garvin, Daniel S

2014-01-01

2

Association of heart block with uncommon disease States.  

PubMed

A variety of diseases, other than the common Lev-Lenègre disease, are associated with cardiac conduction system abnormalities. These include acute processes, such as acute rheumatic fever, and other disorders, such as sarcoidosis, connective tissue disorders, neoplasms, and bacterial endocarditis with cardiac abscess formation. The purpose of the study is to raise awareness of these rare conditions. We present 10 adult patients (4 males and 6 females) with a mean age of 47 years (range: 19-69), with various rare diseases associated with heart block, who needed temporary or permanent pacemaker therapy in the past two decades. These conditions included acute rheumatic carditis, Wegener granulomatosis, cardiac involvement of metastatic breast cancer, bacterial endocarditis, sarcoidosis, S/P chest radiotherapy, and quadriplegia with syringomyelia postspinal cord injury, and adult congenital heart block. We conclude that patients with these disorders should be followed periodically, to allow for early detection and treatment of cardiac conduction disturbances, with pacemaker therapy. PMID:24436606

Yahalom, Malka; Roguin, Nathan; Antonelli, Dante; Suleiman, Khaled; Turgeman, Yoav

2013-09-01

3

Syphilitic hepatitis: an uncommon manifestation of a common disease.  

PubMed

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

Baveja, Sukriti; Garg, Shilpa; Rajdeo, Amol

2014-03-01

4

Ribbing disease: Uncommon cause of a common symptom  

PubMed Central

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. PMID:21969779

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

2011-01-01

5

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

PubMed Central

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

Beebe, J L; Koneman, E W

1995-01-01

6

The role of an uncommon type of oral streptococcus sanguis in the etiology of behcet's disease.  

PubMed

The relationships of Behcet's disease (BD) with oral diseases and the prevalence of an uncommon type of oralStreptococcus sanguis (Str. sanguis) in the oral cavity were investigated in a case-control study. BD patients were compared to patient controls (collagen disease) and healthy controls.An interview questionnaire survey of BD and oral diseases showed that during the pre-onset, onset, and post-onset periods, the incidences of tonsillitis and dental caries, or the history of dental treatment, were greater in BD cases. Typological analysis showed a higher prevalence of an uncommon type ofStr. sanguis, differing from the common type, among BD cases compared to control groups. These results, showing a higher incidence of tonsillitis and dental caries during the presymptomatic period, a greater frequency of dental treatments during the symptomatic period, and the presence of an uncommon type ofStr. sanguis, indicate thatStr. sanguis of an uncommon type is related to increased risk of BD, and the possibility of a causal role is suggested. PMID:21432453

Tsuchida, M; Mineshita, S; Okonogi, H; Sugimori, K; Hoshi, K; Horiuchi, T; Wang, L M; Fujimoto, E K

1997-07-01

7

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

PubMed Central

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

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

2014-01-01

8

Herpes zoster meningoencephalitis complicated with peripheral vascular disease: An uncommon presentation of a common disease.  

PubMed

Abstract Herpes zoster is reactivation of the varicella zoster virus that has remained dormant in the dorsal root ganglia since an earlier episode of chickenpox. Herpes zoster has variable clinical presentations, but meningo-encephalitis is not frequently encountered. There is growing evidence of both large and small vessel involvement in immunocompetent and immunocompromised patients, in contrast with the previous opinion that immunocompetent patients have vasculopathy in the large vessels while immunosuppressed patients have vasculopathy in the small vessels. We present the case of a patient in whom herpes zoster meningoencephalitis was complicated with multifocal vasculopathy with peripheral vascular disease; this is an unusual co-occurrence. PMID:25019184

Srivastava, Trilochan; Nagpal, Kadam

2014-10-01

9

Systemic Lupus Erythematosus Pancreatitis: An Uncommon Presentation of a Common Disease  

PubMed Central

Patient: Female, 21 Final Diagnosis: Systemic lupus erythematosus pancreatitis Symptoms: Abdominal pain Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: 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. Case 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. Conclusions: 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. PMID:25399483

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

2014-01-01

10

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

PubMed

Background 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. Case 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. Conclusions 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. PMID:25399483

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

2014-01-01

11

Isolated Nasopharyngeal Castleman Disease: An Uncommon Diagnosis in an Unusual Location  

PubMed Central

Localised nasopharyngeal Castleman disease has rarely been reported. We present a case involving a 23-year-old female, describe the clinical, imaging, and histopathologic features of this challenging diagnosis, and review the literature. PMID:25126439

McDonnell, O.; Morris, Melinda; Khaleel, Z.

2014-01-01

12

A Common Anesthesiology Procedure for a Patient with an Uncommon Combination of Diseases: A Case Report  

PubMed Central

Administering neuraxial anesthesia to a patient with an underlying neurological disease and a combination of four other pathological disorders can be challenging. We report in this paper the case of a 45-year-old woman with neurological deficit due to ischemic brain infarct, multiple sclerosis, antiphospholipid syndrome, and ?-heterozygous thalassemia that was subjected to abdominal hysterectomy and bilateral salpingoophorectomy under epidural anesthesia for ovarian cancer. PMID:23304562

Tympa, Aliki; Hassiakos, Dimitrios; Salakos, Nikolaos; Melemeni, Aikaterini

2012-01-01

13

An uncommon presentation of a rare disease – High-degree AV block with takotsubo cardiomyopathy  

PubMed Central

Takotsubo cardiomyopathy is a type of non-ischemic cardiomyopathy in which there is sudden temporary left ventricular dysfunction. High-degree AV block and takotsubo cardiomyopathy have been reported together rarely in medical literature. Here we discuss a case of takotsubo cardiomyopathy presenting with complete heart block. A 72-year-old female presented with retrosternal chest pain. Electrocardiogram showed complete heart block without any significant ST-T changes. Echocardiogram revealed regional wall motion abnormality not consistent with coronary artery disease and was suggestive of apical ballooning. Coronary angiogram showed no significant coronary artery lesion. LV angiogram showed apical ballooning and LV systolic dysfunction. Patient underwent temporary pacemaker implantation. Since the complete heart block did not revert even after 18 days, she underwent a permanent pacemaker implantation. PMID:23102392

Shanmugasundaram, R.; Tamilarasu, K.; Rajendiran, G.; Murali, A.

2012-01-01

14

Angiosarcoma of the Breast with Solitary Metastasis to the Ovary during Pregnancy: An Uncommon Pattern of Metastatic Disease  

PubMed Central

Primary de novo angiosarcoma of the breast is an uncommon, aggressive neoplasm. Here, we present a case of a young woman who initially developed primary angiosarcoma of the breast, and subsequently angiosarcoma of the ovary during pregnancy two years later. Only two confirmed primary angiosarcomas of the breast metastasizing specifically to the ovary have been described in the literature. However, all previous cases had ovarian metastases at presentation or shortly after initial diagnosis. This case is unusual as it occurred after a relatively long interval, and apparently developed during pregnancy. We discuss this rare phenomenon, as well as the possible factors contributing to the recurrence. PMID:24383023

Fisher, Cyril; Thway, Khin

2013-01-01

15

Hoover Institution: Uncommon Knowledge  

NSDL National Science Digital Library

The Hoover Institution has placed a wide array of multimedia content online for over a decade, and recently they created a site for their "Uncommon Knowledge" program. Hosted by Hoover fellow Peter Robinson, the program features interviews with political leaders, distinguished scholars, and leading journalists. First-time visitors to the site can browse the archives by topic, date, or guest. Currently, the online archive contains programs from 1997 to 2005, along with webcasts from 2006 to the present. Recent conversations added to the site include a discussion with Shelby Steele and a talk with Michael Barone about tax reform and various health-care proposals.

2008-01-01

16

Developing Parameters for Uncommon Exposures  

Microsoft Academic Search

Common exposure scenarios form the basis for exposure assessments included in human health risk assessments. The quantitative parameters that are used to calculate the receptor's dose associated with these common exposure scenarios are readily available. When humans have uncommon exposures, these often are excluded from the dose calculations because of the lack of parameters or parameters are estimated, which can

Michael J. Sullivan

2012-01-01

17

[Hydatidosis: apropos of several uncommon locations].  

PubMed

Most hydatid cysts are found in the liver or lungs but occurrence in other locations is possible. The purpose of this report is to describe three cases involving cysts locate in the ovary, joint, and thyroid. Clinical findings associated with these uncommon locations were poorly specific and diagnosis required histological examination after surgical exploration. Imaging and serology were useful to differentiate hydatid cyst from benign or malignant tumor disease but often failed to achieve definitive differential diagnosis. Thorough investigation is necessary to rule out more common locations in the liver or lung. Continued surveillance is needed for early detection of recurrence. Preventive campaigns are necessary in endemic areas, such as Morocco. PMID:11258061

Amrani, M; Zouaidia, F; Belabbas, M A; Labrousse, F; Catanzano, G; Elhachimi, A

2000-01-01

18

Uncommon acquired fistulae involving the digestive system: summary of data  

Microsoft Academic Search

Purpose  Most gastrointestinal fistulae commonly occur following surgery. A minority is caused by a myriad of other etiologies and\\u000a is termed by some as “uncommon fistulae”. The aim of this study was to review these fistulae and their treatment.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  A literature review was carried out. Searches were conducted in Pubmed and related references reviewed.\\u000a \\u000a \\u000a \\u000a Results  Except for Crohn’s disease and diverticulitis, “uncommon

I. Ashkenazi; O. Olsha; B. Kessel; M. M. Krausz; R. Alfici

2011-01-01

19

Uncommon presentations of tinea versicolor  

PubMed Central

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

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

2014-01-01

20

Uncommon presentations of tinea versicolor.  

PubMed

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

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

2014-07-01

21

Uncommon Success: A Conversation with Brett Peiser  

ERIC Educational Resources Information Center

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

Meyer, Peter

2014-01-01

22

[Uncommon clinical manifestations of cutaneous leishmaniasis].  

PubMed

Cutaneous leishmaniasis is one of the most common dermatoses of the tropics. A major focus of this disease is the Syrian city of Aleppo, after which it was named in many textbooks ("Aleppo boil"). The first cases of cutaneous leishmaniasis were reported from Aleppo particularly more than 100 years ago. Syria is one of the most affected countries worldwide. This disease used to be well documented until the onset of the war in Syria in 2012, which is also supported by the numbers of the World Health Organisation (WHO), and Aleppo used to be the most affected Syrian city. Since 2012, the documentation of cutaneous leishmaniasis in Syria is no longer possible. An outbreak of cutaneous leishmaniasis has been detected especially in the besieged regions due to missing prevention measures against the sandflies and a lack of medical care. A short summary of the epidemiologic situation in Syria as well as outstanding and uncommon clinical manifestations of cutaneous leishmaniasis in Aleppo are presented. PMID:25115981

Hayani, K; Dandashli, A; Weisshaar, E

2014-10-01

23

Abdominal aortic thrombosis and tuberculosis: an uncommon association  

PubMed Central

Thrombosis of the abdominal aorta is an uncommon event and usually occurs in a diseased vessel. We report a case of a 42-year-old male who presented with abdominal distension and was found to have tuberculosis-related ascites and was incidentally found to have aortic thrombosis. The patient improved with four-drug anti-tubercular therapy and anticoagulation. The occurrence of non-occlusive thrombosis of the abdominal aorta in tuberculosis is unusual. PMID:24759354

Sharma, Alka; Sharma, Vishal

2014-01-01

24

Culture, Relevance, and Schooling: Exploring Uncommon Ground  

ERIC Educational Resources Information Center

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

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

2011-01-01

25

Uncommon content in congenial inguinal hernia  

PubMed Central

Although sliding indirect inguinal hernias containing the ipsilateral ovary and fallopian tube are not uncommon in infant girls, sliding hernias containing uterus with both ovaries and fallopian tubes are extremely rare. At surgery, a 5-month-old infant girl was found to have an indirect hernia in which the uterus and fallopian tubes were sliding components with a wide deep inguinal ring.

Harjai, Man Mohan

2014-01-01

26

Uncommon opportunistic yeast bloodstream infections from Qatar.  

PubMed

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

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

2014-07-01

27

Frequency of uncommon abbreviations in medical journals.  

PubMed

Although the use of abbreviations not understood by the average reader is discouraged by journal editors, I nevertheless found that 43% of 147 articles published during June 1993 in eight general and surgical journals contained uncommon abbreviations. In 26 (18%) of the 147 articles, all the abbreviations and their explanatory decoding words appeared at the front of the article, either in the abstract or in the first paragraph. This up front position makes easier the reader's back-search. In 37 other articles (25%), at least one uncommon abbreviation was decoded somewhere in the body of the article. In 21 articles (14%) the uncommon abbreviations appeared in the concluding or summating paragraph(s) and the explanatory decoding words were buried in the body of the article, thus making difficult the reader's back-search. Corrective action might include (1) editorial and peer review enforcement of the "no nonstandard abbreviation" policy, which is easily done with computerized word processing; (2) tabulation of all abbreviations with their decoding words either just below the abstract at the front of the article or just above the bibliography at the rear; or (3) expansion of each abbreviation in a footnote at the bottom of the appropriate page. PMID:7886529

Shocket, E

1995-03-01

28

[An uncommon etiology of anemia: copper deficiency].  

PubMed

A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis investigations were led to search for uncommon etiologies of anemia and leukoneutropenia. We diagnosed severe copper deficiency on the basis of decreased plasma levels of copper and ceruloplasmin. Copper supplementation improved blood counts within three months. This case illustrates hematological disorders due to copper deficiency, initially masked by an associated folate deficiency. The copper deficiency etiology was not identified in this case. PMID:23906580

Kouamou, Edwige; Stépanian, Alain; Khadra, Fadi; de Prost, Dominique; Teillet, France

2013-01-01

29

Is pneumothorax after acupuncture so uncommon?  

PubMed Central

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

Bauer, Nicki Eithz; Licht, Peter B.

2013-01-01

30

Allergy to Uncommon Pets: New Allergies but the Same Allergens  

PubMed Central

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

Díaz-Perales, Araceli; González-de-Olano, David; Pérez-Gordo, Marina; Pastor-Vargas, Carlos

2013-01-01

31

An Uncommon Cause of Paraplegia: Salmonella Spondylodiskitis  

PubMed Central

Background/Objective: Salmonella spondylodiskitis is an uncommon type of vertebral infection. The aim of this study was to present a case of progressive paraplegia caused by Salmonella spondylodiskitis and epidural abscess after endoscopic cholecystectomy. Methods: The patient underwent posterior instrumentation and posterior fusion between T6 and T12, hemilaminotomies at levels T8-T9-T10, and drainage of the abscess. Through a left thoracotomy, anterior T8–T10 corpectomy, debridement, anterior stabilization, and fusion were conducted. Results: Fifteen months later, final follow-up showed no complications secondary to the vertebral and hip surgeries, and neurological status improved to Frankel grade E. Laboratory investigations showed no evidence of Salmonella infection. Conclusion: Immunocompromised patients who undergo endoscopic intervention are vulnerable to Salmonella infections. One must consider Salmonella infection in those who develop acute progressive spondylodiskitis. PMID:16859227

Ozturk, Cagatay; Tezer, Mehmet; Mirzanli, Cuneyt; Bilen, F. Erkal; Aydogan, Mehment; Hamzaoglu, Azmi

2006-01-01

32

Schwannoma with an uncommon anal location  

PubMed Central

Schwannomas are slow-growing mesenchymal neoplasms that arise from Schwann cells with low malignant potential. These uncommon neoplasms are nerve sheath tumors that arise at almost any anatomical site. The majority of schwannomas are benign, and few are malignant. The current study presents the rare case of an anal schwannoma that was successfully treated by surgery; there are few such cases previously reported in the literature. The patient was admitted to hospital following the identification of a mass incidentally. The tumor was so large that it compressed the tissue around it, although no symptoms were caused. The pre-operative clinical diagnosis was inconclusive in this case, and a final diagnosis was established based on radiographic and histopathological examination. The current study aimed to provide a possible differential diagnosis for such anally-located masses.

PAN, JIYONG; JING, HUIRONG; TIAN, XIAOFENG; FAN, ZHE

2014-01-01

33

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.  

PubMed

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. PMID:21103208

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

2010-01-01

34

[Abdominal aortic aneurysm: an uncommon presentation].  

PubMed

Most abdominal aortic aneurysms are asymptomatic, being accidentally found on physical examination or in routinely performed imaging studies. They only require surveillance (which is variable according to the aneurism size) and medical therapy in order to achieve risk factor reduction. However, in certain situations, according to the risk of aneurism rupture, elective surgery or endovascular procedure may be necessary. About 80% of the cases of aneurism rupture occur into the retroperitoneal space, with a high mortality rate. There are uncommon presentations of aneurism rupture as the aorto-caval fistula, which also require fast diagnosis and intervention. The authors present the case of a 71-year-old man, with the previous diagnosis of hypertension, acute myocardial infarction 2 months earlier (undergone primary Percutaneous Coronary Intervention) and tabagism, who was admitted at the emergency department with intense 24-hour-evolution epigastric pain. On physical examination, the Blood Pressure values measured at the lower limbs were about half the ones measured at the upper limbs and there was an abdominal pulsatile mass, with a high-intensity murmur. As the authors suspected aortic dissection, aneurysm, coarctation or thrombosis, it was done a Computed Tomography scanning with intravenous contrast, which revealed a ruptured abdominal aorta aneurysm with a mural thrombus. The doppler ultrasound confirmed the presence of a high debit aorto-caval fistula. The patient was immediately transferred to the Vascular Surgery. However he died 2 hours later, during surgery. PMID:22525642

Taborda, Lúcia; Pereira, Laurinda; Amona, Eurides; Pinto, Erique Guedes; Rodrigues, Joaquim

2011-01-01

35

Uncommon mucosal metastases to the stomach  

PubMed Central

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

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

2009-01-01

36

Ewing's Sarcoma: An Uncommon Breast Tumor  

PubMed Central

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. PMID:25332765

Meddeb, Sawsen; Rhim, Mohamed Salah; Kouira, Mouna; Mestiri, Sarra; Bibi, Mohamed; Yacoubi, Mohamed Tahar

2014-01-01

37

Ewing's Sarcoma: An Uncommon Breast Tumor.  

PubMed

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. PMID:25332765

Meddeb, Sawsen; Rhim, Mohamed Salah; Kouira, Mouna; Mestiri, Sarra; Bibi, Mohamed; Yacoubi, Mohamed Tahar

2014-06-18

38

Response to W. Gage's Article "Uncommonly Taught Languages."  

ERIC Educational Resources Information Center

This paper, a commentary on W.W. Gage's article "Uncommonly Taught Languages" (AL 002 524), attempts to stress other aspects than those treated by Gage and points out the practical and technical needs of those interested in the field. The author views the goal of the study of uncommonly taught languages at the understanding of other peoples and…

Hodge, Carleton T.

1970-01-01

39

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

PubMed Central

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

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

2014-01-01

40

Uncommon and Rare Human Papillomavirus Genotypes Relating to Cervical Carcinomas  

PubMed Central

Background Human papillomavirus (HPV) is an oncogenic virus in cervical cancer and most invasive carcinomas (ICs) are caused by HPV16 and 18. However, the roles and contributions of other uncommon and rare genotypes remain uncertain. Methods HPV genotypes were retrospectively assessed using an HPV DNA chip that can specify up to 32 HPV genotypes. We arbitrarily regarded genotypes accounting for less than 6% of the total as uncommon and rare genotypes. Results A total of 3,164 HPV-positive cases were enrolled. In groups 2A, 2B, 3, and unclassified HPV genotypes, 2.4% of cases with uncommon HPV genotypes (68, 26, 34, 53, 66, 69, 70, 73, 40, 42, 43, 44, 54, 55, 61, 62, 6, and 11) showed high grade squamous intraepithelial lesions and ICs. There were no HPV32- and 57-infected cases. Conclusions We found that the uncommon and rare HPV genotypes may provide incremental etiologic contributions in cervical carcinogenesis, especially HPV68, 70, and 53. Further studies on these uncommon and rare HPV genotypes will be of importance in establishing the significance of genotypes in different regions, especially in planning a strategy for further vaccine development as well as follow-up on the effectiveness of the currently used vaccines. PMID:24627694

Kim, Na Rae; Kang, Myunghee; Lee, Soon Pyo; Kim, Hyunchul; An, Jungsuk; Chung, Dong Hae; Ha, Seung Yeon

2014-01-01

41

Uncommon opportunistic fungal infections of oral cavity: A review.  

PubMed

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

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

2014-05-01

42

Uncommon opportunistic fungal infections of oral cavity: A review  

PubMed Central

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

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

2014-01-01

43

Hipopituitarism due to primary empty sella and uncommon muscular symptoms  

Microsoft Academic Search

To the Editor, Muscular abnormalities are uncommon manifestations of secondary adrenal insufficiency [1]. Herein, an elderly woman with an unusual muscular presentation of hypopituitarism due to empty sella and secondary adrenal insufficiency is described. A 75-year-old woman reported severe pain and contracture in both thighs associated with progressive difficulty in walking for the past three weeks. Response to analgesics and

Enrique Anton

44

An Uncommon Twist: Isolated Fallopian Tube Torsion in an Adolescent  

PubMed Central

We report a 13-year-old girl with bilateral paratubal cysts and left isolated fallopian tube torsion (IFTT). Paratubal cysts are uncommon in children, and IFTT is a rare complication. Awareness of this entity and prompt surgical intervention could potentially salvage the fallopian tube preserving fertility. PMID:24024061

Kisku, Sundeep; Thomas, Reju Joseph

2013-01-01

45

Advocacy: Emphasizing the Uncommon about the Common Core State Standards  

ERIC Educational Resources Information Center

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…

Kaplan, Sandra N.

2014-01-01

46

Thoracoscopic surgery for pulmonary oncocytoma, an uncommon neoplasm  

PubMed Central

Oncocytoma is an uncommon neoplasm with a characteristic histologic feature of abundant eosinophilic granular cytoplasm. It almost always occurs in kidney, thyroid, or salivary gland. Pulmonary oncocytoma is a rare pulmonary neoplasm, with fewer than 10 cases reported so far in the available English literature. We encountered one such case that was successfully managed by thoracoscopic lobectomy. PMID:24523615

Zhang, B.; Jin, J.; Ye, Z.; Zheng, H.

2014-01-01

47

5 CFR 630.210 - Uncommon tours of duty.  

...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...

2014-01-01

48

5 CFR 630.210 - Uncommon tours of duty.  

Code of Federal Regulations, 2012 CFR

...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...

2012-01-01

49

5 CFR 630.210 - Uncommon tours of duty.  

Code of Federal Regulations, 2011 CFR

...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...

2011-01-01

50

5 CFR 630.210 - Uncommon tours of duty.  

Code of Federal Regulations, 2010 CFR

...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...

2010-01-01

51

5 CFR 630.210 - Uncommon tours of duty.  

Code of Federal Regulations, 2013 CFR

...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...

2013-01-01

52

MINI-REVIEW The tragedy of the uncommon  

E-print Network

fingerprint data. The ISME Journal advance online publication, 8 May 2008; doi:10.1038/ismej.2008.44 SubjectMINI-REVIEW The tragedy of the uncommon: understanding limitations in the analysis of microbial, USA Molecular microbial community analysis methods have revolutionized our understanding

Forney, Larry J.

53

Uncommon gastrointestinal complications of enteric fever in a non-endemic country  

PubMed Central

Enteric fever is a systemic illness with varying presentation. It is an important infectious disease in developing countries and also in industrialized countries where many migrants reside. Enteric fever can result in complications in different organ systems and delay in identification and prompt treatment can be fatal. The important gastrointestinal complications of enteric fever include hepatitis, intestinal ulcers, bleeding and bowel perforation. We report three relatively uncommon complications of enteric fever in Qatar, a non-endemic country, ileal ulcer presenting with hematochezia; duodenal ulcer with polyserositis, cholestatic hepatitis and bone marrow suppression; enteric fever related peritonitis.

Thandassery, Ragesh Babu; Sharma, Manik; Abdelmola, Abdellatif; Derbala, Moutaz F.M.; Al Kaabi, Saad Rashid

2014-01-01

54

[Clinical case of the month. An uncommon cause of sciatica: lumbar synovial cyst].  

PubMed

We describe the case of a 46-year-old woman suffering from an hyperalgic sciatica caused by a lumbar synovial cyst. These are uncommon lesions associated with degenerative spine disease. They may be asymptomatic or may produce symptoms resulting from nervous structures compression. They are commonly found at the L4-L5 level, the site of maximum mobility. Their etiopathogeny is still unclear but degenerative spinal instability is the strongest factor for their growth. MRI is the most effective for the diagnosis. Conservative management is usually unsuccessful. Resection with or without fusion remains the more appropriate therapeutic option. PMID:21287759

Lommers, E; Gillet, P

2010-12-01

55

Arsenic Compound Improves Survival of Adults with Uncommon Form of Leukemia  

Cancer.gov

Positive results of a phase III cancer clinical trial in an uncommon form of leukemia were released today. The results showed that adult patients with previously untreated acute promyelocytic leukemia who had standard chemotherapy to induce remission of their disease, and then received the chemotherapy drug arsenic trioxide to maintain remission, had a significantly better event-free survival (more patients free of leukemia) and better overall survival than those who received only standard chemotherapy. The trial was sponsored by the NCI, and was led by one of its Cooperative Clinical Trials Groups -- the Cancer and Leukemia Group B.

56

Gallery of uncommon orthopedic implants: a guide for emergency radiologist  

Microsoft Academic Search

The purpose of this gallery of orthopedic implants was to provide a reference for emergency radiologists to quickly identify\\u000a uncommon devices in the shoulders, hips, and extremities. The cases presented in this exhibit will include unusual arthroplasties\\u000a and prostheses as well as bone graft implants (including allograft and autograft). Bone grafts are frequently used for the\\u000a treatment of bone defects,

Eric White; Darren Lu; Ben Eyer; Chris Gottsegen; Elke Ahlmann; Chris Allison

2010-01-01

57

Radiologic-pathologic correlation of uncommon mesenchymal liver tumors.  

PubMed

Mesenchymal liver tumors are rarely encountered in clinical practice. We review the spectrum of mesenchymal liver tumors with radiologic-pathologic correlation. There is an overlap of cross-sectional imaging findings of mesenchymal liver tumors with that of the more common malignant epithelial tumors. Familiarity with the radiologic findings and its pathologic basis would help radiologists to include these uncommon liver tumors in their differential diagnosis. PMID:24070712

Bhargava, Puneet; Iyer, Ramesh S; Moshiri, Mariam; Yeh, Matthew M; Upton, Melissa P; Foo, Wen-Chi; Mannelli, Lorenzo; Gupta, Rajan T

2013-01-01

58

Malherbe's Calcifying Epithelioma (Pilomatrixoma): An Uncommon Periocular Tumor  

PubMed Central

Benign calcifying epithelioma of Malherbe or pilomatrixoma or pilomatricoma is an uncommon lesion of the periocular tissues, arising from the matrix cells at the base of the hair. In the periocular area, it usually arises from the lids and eyebrows. Pilomatrixoma has certain characteristic clinical and histopathologic features, but since it is not commonly suspected preoperatively, certain distinctive clinical features of tumor should suggest clinical diagnosis followed by histopathologic confirmation. PMID:21769234

Ali, Mohammad Javed; Honavar, Santosh G; Naik, Milind N; Vemuganti, Geeta K

2011-01-01

59

Three uncommon adrenal incidentalomas: a 13-year surgical pathology review  

PubMed Central

Background The discovery of adrenal incidentalomas due to the widespread use of sophisticated abdominal imaging techniques has resulted in an increasing trend of adrenal gland specimens being received in the pathology laboratory. In this context, we encountered three uncommon adrenal incidentalomas. The aim of this manuscript is to report in detail the three index cases of adrenal incidentalomas in the context of a 13-year retrospective surgical pathology review. Methods The three index cases were investigated and analyzed in detail with relevant review of the English literature as available in PubMed and Medline. A 13-year retrospective computer-based histopathological surgical review was conducted in our laboratory and the results were analyzed in the context of evidence-based literature on adrenal incidentalomas. Results A total of 94 adrenal specimens from incidentalomas were identified, accounting for 0.025% of all surgical pathology cases. In all 76.6% were benign and 23.4% were malignant. A total of 53 females (56.4%) and 41 males (43.6%) aged 4 to 85?years were identified. The benign lesions included cortical adenoma (43.1%), pheochromocytoma (29.3%) and inflammation/fibrosis/hemorrhage (8.3%). Metastatic neoplasms were the most common malignant lesions (50%) followed by primary adrenocortical carcinomas (31.8%) and neuroblastoma (13.6%). These cases were discovered as adrenal incidentalomas that led to surgical exploration. The three index cases of adrenal incidentalomas with unusual pathologies were encountered that included (a) adrenal ganglioneuroma, (b) periadrenal schwannoma and (c) primary adrenal pleomorphic leiomyosarcoma. These cases are discussed, with a literature and clinicopathological review. Conclusions Adrenal lesions are uncommon surgical specimens in the pathology laboratory. However, higher detection rates of adrenal incidentalomas aided by the ease of laparoscopic adrenalectomy has resulted in increased adrenal surgical specimens leading to unsuspected diagnostic and management dilemmas. Accurate pathological identification of common and uncommon adrenal incidentalomas is essential for optimal patient management. PMID:22540324

2012-01-01

60

[Uncommon condition of the upper gastrointestinal tract: double pylorus].  

PubMed

Double pylorus and gastroduodenal fistula are uncommon conditions that are either congenital or acquired. Acquired double pylorus in most cases resulted from a penetrating peptic ulcer creating a fistula between the duodenal bulb and the prepyloric antrum. The diagnosis is usually made by endoscopy. Surgical intervention should be only considered for patients with refractory symptoms, recurrent ulcers and other complications. We report the case of a 85-year-old man with an acquired duodenal-antral fistula resulting from a retrograde penetration of an ulcus duodeni and simulating a double pylorus. PMID:19197825

Wurm, G; Saers, T; Weber, M; Krakamp, B

2009-02-01

61

Acute Esophageal Necrosis: An Uncommon Cause of Hematemesis  

PubMed Central

Acute esophageal necrosis or black esophagus is an uncommon clinical entity, diagnosed at the upper gastrointestinal endoscopy with the presence of strikingly black necrotic esophagus. Very often no definite etiology will be identified even though a large list of potential associations has been postulated. Upper gastrointestinal bleeding is the most common clinical presentation, others being epigastric pain, retrosternal chest discomfort and dysphagia. Only about a hundred cases of acute esophageal necrosis have been described in medical literature till this date. We report a case of acute esophageal necrosis in an elderly female who had presented with hematemesis. PMID:25170416

Zacharia, George Sarin; Sandesh, K; Ramachandran, TM

2014-01-01

62

Solar Elastosis in Its Papular Form: Uncommon, Mistakable  

PubMed Central

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

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

2014-01-01

63

Venous thromboembolism at uncommon sites in neonates and children.  

PubMed

We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis. The majority of patients (91.7%) had at least 1 risk factor for thrombosis. Identified thrombophilic factors were: antiphospholipid antibodies (n=2), FV Leiden heterozygosity (n=6), MTHFR C677T homozygosity (n=4), protein S deficiency (n=2), whereas all neonates had age-related low levels of protein C and protein S. All but 6 patients received low-molecular-weight heparin, followed by warfarin in 55% of cases, for 3 to 6 months. Prolonged anticoagulation was applied in selected cases. During a median follow-up period of 6 years, the clinical outcome was: full recovery in 15 patients, evolution to both chronic portal hypertension and esophageal varices in 2 children, and progression to renal failure in 7 of 10 neonates. Neonates are greatly vulnerable to complications after VTE at uncommon sites, particularly renal. Future multicentre long-term studies on neonatal and pediatric VTE at unusual sites are considered worthwhile. PMID:24517966

Pergantou, Helen; Avgeri, Maria; Komitopoulou, Anna; Xafaki, Panagiota; Kapsimali, Zoey; Mazarakis, Michail; Adamtziki, Eftychia; Platokouki, Helen

2014-11-01

64

European and German food legislation facing uncommon foodstuffs.  

PubMed

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

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

2013-01-01

65

[Sarcoidosis as an uncommon cause of articular pathology in pediatric patients].  

PubMed

We present two cases of sarcoidosis with chronic arthropathy presenting clinical and imaging findings compatible with chronic juvenile arthritis. One patient suffered from chronic nephropathy, with anomalous US pattern and sarcoid granulomas demonstrated at renal biopsy. Throughout the illness, the patient suffered from cutaneous lesions that proved to be sarcoid granulomas after biopsy. US and color-Doppler US were useful in detecting the lesions and in the follow-up of the chronic articular pathology in these children. Although sarcoidosis is uncommon, it is important to consider this disease in the diagnosis of chronic arthropathy in children. We analyze these two cases and comment on the clinical and imaging characteristics of pediatric articular sarcoidosis. PMID:17059208

Valdés, Pablo; Ceres, Luisa; Alonso, Ignacio; Moreno, Esperanza

2006-01-01

66

Multi-institute study finds uncommon BRAF melanoma mutation  

Cancer.gov

An uncommon mutation of the BRAF gene in melanoma patients has been found to respond to MEK inhibitor drugs, providing a rationale for routine screening and therapy in melanoma patients who harbor the BRAF L597 mutation. Mutations in BRAF V600E or KIT are common in about 40 percent to 50 percent of melanomas, and drugs that block or inhibit BRAF V600E were recently approved for treatment of melanoma patients with these mutations. However, there has been no effective treatment for patients with wildtype (WT) melanoma that is negative for these driver mutations. This study included researchers from the Vanderbilt-Ingram Cancer Center, UCLA Jonsson Comprehensive Cancer Center, and Memorial Sloan-Kettering Cancer Center.

67

Trends in photomechanics: fashion, practicality, and uncommon applications  

NASA Astrophysics Data System (ADS)

Many advances in optics theory and technology have been stimulated by the demands of engineering research. From another viewpoint, the science of optics unifies diverse important areas of experimental research. Fundamental problems in fluid mechanics, rock mechanics, biomechanics, fracture mechanics, materials science, manufacturing technology, nondestructive inspection, and glacier mechanics are being solved by methods of optical metrology. The development of expertise and facilities to have in hand the most appropriate of available techniques is a forbidding task, but it is necessary in order to solve problems in the most efficient way. This paper describes in elementary terms some examples of applications which are relatively uncommon, including biomechanical contouring, glacier strain and flow measurement, 3-dimensional fracture mechanics, and nondestructive inspection of composites. In each case, one or more techniques, some fashionable and some old-fashioned, were adapted, extended or combined to perform the necessary measurements. The rationales for choosing the methods to solve each problem are outlined. The techniques include electronic speckle, electronic shearography, moire interferometry, moire photography with optical filtering, differential moire contouring, Doppler velocimetry, and noncoherent-light speckle photography.

Cloud, Gary L.

1994-11-01

68

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

PubMed

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. PMID:21293750

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

2010-01-01

69

Orchestration of an Uncommon Maturation Cascade of the House Dust Mite Protease Allergen Quartet  

PubMed Central

In more than 20% of the world population, sensitization to house dust mite allergens triggers typical allergic diseases such as allergic rhinitis and asthma. Amongst the 23 mite allergen groups hitherto identified, group 1 is cysteine proteases belonging to the papain-like family whereas groups 3, 6, and 9 are serine proteases displaying trypsin, chymotrypsin, and collagenolytic activities, respectively. While these proteases are more likely to be involved in the mite digestive system, they also play critical roles in the initiation and in the chronicity of the allergic response notably through the activation of innate immune pathways. All these allergenic proteases are expressed in mite as inactive precursor form. Until recently, the exact mechanisms of their maturation into active proteases remained to be fully elucidated. Recent breakthroughs in the understanding of the activation mechanisms of mite allergenic protease precursors have highlighted an uncommon and unique maturation pathway orchestrated by group 1 proteases that tightly regulates the proteolytic activities of groups 1, 3, 6, and 9 through complex intra- or inter-molecular mechanisms. This review presents and discusses the currently available knowledge of the activation mechanisms of group 1, 3, 6, and 9 allergens of Dermatophagoides pteronyssinus laying special emphasis on their localization, regulation, and interconnection. PMID:24744761

Dumez, Marie-Eve; Herman, Julie; Campizi, Vincenzo; Galleni, Moreno; Jacquet, Alain; Chevigne, Andy

2014-01-01

70

Uncommon case of brain metastasis in a patient with a history of heavy smoking  

PubMed Central

Primary sarcomas of the aorta are extremely uncommon. Depending on histomorphology and immunohistochemical pattern, intimal sarcomas can show angiosarcomatous differentiation. Here, we describe the case of a 60-year-old woman with a primary intimal sarcoma of the aortic arch and signs of cerebral metastatic disease as the initial manifestation. After the patient experienced the onset of severe headaches, ataxia, and left-sided weakness, magnetic resonance imaging showed several brain lesions. Histologic assessment of a brain biopsy specimen revealed a malignant tumour composed of large pleomorphic cells that were positive for pancytokeratin and CD10. Radiation to the brain did not significantly improve the patient’s symptoms, and cranial computed tomography (ct) imaging revealed several metastases, indicating lack of response. Because of the patient’s smoking history, the presence of central nervous system and skeletal metastases on combined positron-emission tomography and ct imaging, and the focal pan-cytokeratin positivity of the tumour, carcinoma of the lung was favoured as the primary tumour. Despite chemotherapy with cisplatin and etoposide, the patient’s neurologic symptoms and general condition deteriorated rapidly, and she died within a few days. At autopsy, an undifferentiated intimal sarcoma of the aortic arch was diagnosed. The primary tumour in the aorta consisted of large pleomorphic cells. Immunohistochemical analysis of the aortic tumour and brain metastases demonstrated diffuse positivity for vimentin and p53 and focal S-100 staining. In summary, we report a challenging case of advanced intimal sarcoma of the aortic arch with brain and bone metastases at initial presentation. Our report demonstrates the difficulties in diagnosing and treating this disease, and the need for multicentre studies to accrue more patients for investigations of optimal therapy.

Scharl, M.; Bode, B.; Rushing, E.; Knuth, A.; Rordorf, T.

2014-01-01

71

Gene Duplication Identified in an Uncommon Form of Bone Cancer  

Cancer.gov

Scientists have discovered that a familial form of a rare bone cancer called chordoma is explained not by typical types of changes or mutations in the sequence of DNA in a gene, but rather by the presence of a second copy of an entire gene. Inherited large structural changes, known as copy number variations (CNVs), have been implicated in some hereditary diseases but have seldom been reported as the underlying basis for a familial cancer.

72

Chronic cough and eosinophilic esophagitis: an uncommon association.  

PubMed

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

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

2011-05-01

73

Chronic Cough and Eosinophilic Esophagitis: An Uncommon Association  

PubMed Central

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

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

2011-01-01

74

Secondary hyperparathyroidism: Uncommon cause of a leg ulcer  

PubMed Central

INTRODUCTION Most leg ulcers are vascular based. Only if vascular therapy fails other causes are considered. We report the case of a female with incapacitating leg ulcers caused by a rare condition which was only diagnosed after failing treatment. PRESENTATION OF CASE The female had an extensive previous history including diabetes, renal insufficiency and cardiovascular disease and presented with three large and painful ulcers on her left lower leg. Standard treatment with antibiotics, wound excision and additional treatment with hyperbaric oxygen were ineffective. One month post hospital-admission calciphylaxis cutis caused by renal failure induced secondary hyperparathyroidism was diagnosed. Surgical treatment by a parathyroidectomy induced rapid regeneration of the ulcers. DISCUSSION Our patient's vast comorbidity and previous history had expanded differential considerations causing a delay in diagnosis. Our patient's previous history led us to believe her ulcers were vascular based, however her chronic renal failure appeared responsible for her condition. CONCLUSION Although less probable than venous insufficiency and concomittant leg ulcers or other differential considerations, calciphylaxis cutis should be part of the differential diagnosis in any end stage renal disease-patient with unexplained ulcers as an effective therapy is readily available. PMID:22288037

van Rijssen, L.B.; Brenninkmeijer, E.E.A.; Nieveen van Dijkum, E.J.M.

2011-01-01

75

Malaria is an uncommon cause of adult sepsis in south-western Uganda  

PubMed Central

Background Malaria is often considered a cause of adult sepsis in malaria endemic areas. However, diagnostic limitations can make distinction between malaria and other infections challenging. Therefore, the objective of this study was to determine the relative contribution of malaria to adult sepsis in south-western Uganda. Methods Adult patients with sepsis were enrolled at the Mbarara Regional Referral Hospital between February and May 2012. Sepsis was defined as infection plus ?2 of the following: axillary temperature >37.5°C or <35.5°C, heart rate >90 or respiratory rate >20. Severe sepsis was defined as sepsis plus organ dysfunction (blood lactate >4 mmol/L, confusion, or a systolic blood pressure <90 mmHg). Sociodemographic, clinical and laboratory data, including malaria PCR and rapid diagnostic tests, as well as acid fast bacteria sputum smears and blood cultures were collected. Patients were followed until in-patient death or discharge. The primary outcome of interest was the cause of sepsis. Multivariable logistic regression was performed to assess predictors of mortality. Results Enrollment included 216 participants who were 51% female with a median age of 32 years (IQR 27–43 years). Of these, 122 (56%) subjects were HIV-seropositive of whom 75 (66%) had a CD4+ T cell count <100 cells/?L. The prevalence of malaria was 4% (six with Plasmodium falciparum, two with Plasmodium vivax). Bacteraemia was identified in 41 (19%) patients. In-hospital mortality was 19% (n?=?42). In multivariable regression analysis, Glasgow Coma Score <9 (IRR 4.81, 95% CI 1.80-12.8) and severe sepsis (IRR, 2.07, 95% CI 1.03-4.14), but no specific diagnoses were statistically associated with in-hospital mortality. Conclusion Malaria was an uncommon cause of adult sepsis in a regional referral hospital in south-western Uganda. In this setting, a thorough evaluation for alternate causes of disease in patients presenting with sepsis is recommended. PMID:23634654

2013-01-01

76

Congenital Lobar Emphysema and Intercostal Drainage Tube Insertion: The Common Fate of an Uncommon Disease  

PubMed Central

Congenital Lobar Emphysema (CLE) is one of the rare cystic malformations of the lung. This malformation is generally confused with pneumothorax of the lung and most often, the placement of an intercostal drainage tube is entertained in an emergency situation, but the non- improvement of the distress and non-expansion of the lung are eye openers for a treating paediatrician. We are describing a case of a 26 days old baby who presented with respiratory distress in the Emergency Department. On the basis of the chest X-ray (CXR), we suspected it to be a case of pneumothorax and an intercostal drainage tube was inserted. But as he did not improve, CT of the chest was done and the baby was diagnosed to have congenital lobar emphysema. In spite of the advanced diagnostic techniques, the diagnosis of CLE may present a diagnostic challenge and a high index of suspicion is needed if the diagnosis has to be made promptly. PMID:23285462

Kumar, Saurabh; Debata, P.K.; Gupta, R.

2012-01-01

77

A case of lung mass: a common association between uncommon diseases.  

PubMed

A young man presented with a history of cough, chest pain and streaky haemoptysis with low-grade fever. Further evaluation revealed a mass in the left hemithorax, which was biopsied to reveal cryptococcoma. The patient was HIV negative. Flow cytometry lymphocyte subset analysis showed reduced CD4+ T lymphocytes. Absolute CD4+ lymphocyte count was only 230 (normal range 530-1300). The patient was started on injectable amphotericin B, which was given for 1?month, and he was discharged on oral fluconazole. PMID:25422330

Gupta, Vishal; Karnik, Niteen D; Agrawal, Dhiraj; Tiwari, Dhirendra Kumar

2014-01-01

78

[Myalgia of the girdle in the elderly: an uncommon etiology].  

PubMed

We describe the clinical case of 80 years, caucasian woman, with personal history of osteoporosis and chronic normochromic normocytic anemia (NN). She had a three month history of myalgias of the girdle, stiffness in the morning, exceeding 1 hour, associated with inflammatory arthralgia of the small joints of hands and feet. Complementary exams showed normocytic normochromic anemia with Hg 9.8 g/dL; ESR 44 mm/h; CRP 7 mg/dL. Given the profile suggestive of Polymyalgia Rheumatica started prednisolone 10 mg/day with favorable clinical response. Four months after treatment she started paresthesias of right hand and foot, polaquiuria, petequial lesions in lower limbs and inability to walk; there was worsening of anemia and elevation of the biological parameters of inflammation, beginning of renal insufficiency with creatinine clearance 22 ml/min, proteinuria and eritrocituria. Renal biopsy was compatible with Wegener's granulomatosis/microscopic poliangeite. Vasculitis is a rare disease of the elderly and its clinical presentation is varied. The arteritis of giant cells and Polymyalgia Rheumatica are more common in the elderly. It is not often Polymyalgia-like presentation in cases of Wegener's granulomatosis/microscopic polyangitis. PMID:20505632

Roque, R; Cravo, A R; Godinho, F; Tavares, V; Gonçalves, P; Canas da Silva, J

2010-01-01

79

Geode of the femur: an uncommon manifestation potentially reflecting the pathogenesis of rheumatoid arthritis.  

PubMed

Geodes are noted frequently in rheumatoid arthritis (RA), but large geodes of the femur are uncommon. We describe a patient with RA and a large geode in his femur; histological findings were consistent with a rheumatoid nodule and chronically inflamed synovium. We review the literature of large femoral geodes and what this particular manifestation may reflect about the pathogenesis of RA. PMID:17080513

Lee, Wonuk; Terk, Michael R; Hu, Bing; Garber, Elayne K; Weisman, Michael H

2006-12-01

80

Autism is uncommon in 22q: the how and why of wrong diagnoses  

E-print Network

Autism is uncommon in 22q: the how and why of wrong diagnoses Kathleen Angkustsiri, Khyati Disclosures · Co-investigator on clinical trials in autism and fragile X syndrome ­Novartis ­Roche ­Seaside Pharmaceuticals ­Forest Laboratories #12;22q and Autism Spectrum Disorders · Autism Spectrum Disorders

Nguyen, Danh

81

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

PubMed

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

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

2014-04-01

82

Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility  

E-print Network

Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility of a recombinant protein in Escherichia coli, obtaining the protein in a soluble, biologically active form-prone polypeptide to a highly soluble partner. To study this phenomenon in greater detail, we compared the ability

83

Uncommon acute neurologic presentation of canine distemper in 4 adult dogs  

PubMed Central

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

Galan, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martin; Perez, Jose; Martin, Eva M.

2014-01-01

84

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

PubMed Central

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

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

2013-01-01

85

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

PubMed Central

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

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

2012-01-01

86

Isolated left ventricular diastolic collapse in pericardial tamponade: an uncommon echocardiographic finding.  

PubMed

A case of circumferential moderate pericardial effusion causing isolated collapse of left ventricular cavity on two-dimensional echocardiography is reported. Pericardial effusion, mostly of infective etiology, is relatively common in this part of the world. When large enough to cause tamponade, collapse of right atrium, right ventricle, and uncommonly left atrium can be seen. Left ventricular collapse is rare, both due to the larger muscle mass and higher chamber pressure. PMID:24919444

Singh, Vikas; Dwivedi, Sudhanshu K; Chandra, Sharad; Sanguri, Ritesh; Saran, Ram Kirti

2014-08-01

87

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

PubMed Central

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

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

2011-01-01

88

Characterization of uncommon portosystemic collateral circulations in patients with hepatic cirrhosis  

PubMed Central

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

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

2015-01-01

89

[Acquired von Willebrand's disease].  

PubMed

We describe a patient with acquired von Willebrand's disease and Waldenström's macroglobulinemia. He suffered from an acquired tendency to bleed. The laboratory findings were identical to those of congenital von Willebrand's disease. The acquired form of this bleeding disorder is seen in association with immunologically active B cell lymphomas, certain other malignant tumours, and autoimmune diseases. The incidence and prevalence are unknown, but this disorder is probably uncommon. We discuss possible pathogenetic mechanisms. Acquired von Willebrand's disease should be considered in patients with an acquired tendency to bleed, especially if the patient also has a lymphoproliferative, neoplastic, or autoimmune disease. PMID:8332973

Berentsen, S; Hammerstrøm, J

1993-05-10

90

Thrombotic thrombocytopenic purpura in adult Still's disease.  

PubMed

We describe 2 patients with adult Still's disease who developed thrombotic thrombocytopenic purpura (TTP) and were successfully treated. Although TTP has been associated with autoimmune diseases, usually with systemic lupus erythematosus or various forms of vasculitis, it has rarely been observed in patients with adult Still's disease. This uncommon coexistence of 2 clinical entities may indicate similar pathogenetic mechanisms. PMID:8882053

Boki, K A; Tsirantonaki, M J; Markakis, K; Moutsopoulos, H M

1996-02-01

91

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

PubMed

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

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

2014-12-01

92

Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management.  

PubMed

Myofibroma, the most common juvenile fibrous disorder in infancy, usually manifests as a solitary soft tissue tumor and less commonly as simultaneous multiple tumors in both soft tissue and bones. Infantile myofibromatosis is well described in the head and neck, but cutaneous lesions rarely occur in the periorbit and orbit, where fast growth and bone damage can mimic malignant tumors. We describe a case of a solitary periorbital myofibroma in a newborn. Treatment consisted of partial excision of the tumor. Histologic and immunohistochemistry analyses provided the diagnosis of infantile myofibromatosis. The patient remains disease-free at 10 years of age, but with some visual impairment. Infantile myofibromatosis is an uncommon tumor with exceptional periorbital involvement. Differential diagnosis can be difficult when it is solely based on histologic assessment. Immunohistochemistry evaluation demonstrating cytoplasmic actin filaments in neoplastic spindle cells confirms the diagnosis. As soon as the diagnosis is made, chest and abdominal imaging must be performed to evaluate the overall prognosis and direct treatment. The treatment of choice is early conservative surgery to minimize functional and/or esthetic damage. Complete tumor excision is not always possible. Lengthy ophthalmologic monitoring is required to detect the onset of amblyopia. PMID:22813815

Gatibelza, Marie-Eve; Vazquez, Birmania Ramos; Bereni, Natacha; Denis, Danièle; Bardot, Jacques; Degardin, Nathalie

2012-07-01

93

Radiation Therapy Planning: an Uncommon Application of Lisp Ira J. Kalet, Robert S. Giansiracusa, Craig Wilcox, and Matthew Lease  

E-print Network

Radiation Therapy Planning: an Uncommon Application of Lisp Ira J. Kalet, Robert S. Giansiracusa, Craig Wilcox, and Matthew Lease Department of Radiation Oncology and Department of Computer Science interactive graphics simulation system called \\Prism", for planning radiation therapy. Special features

Yetisgen-Yildiz, Meliha

94

Relationship Between Uncommon Computed Tomography Findings and Clinical Aspects in Patients With Acute Pyelonephritis  

PubMed Central

Purpose Computed tomography (CT) has become popular in the diagnosis of acute pyelonephritis (APN) and its related complications in adults. The aim of this study was to investigate the relationship between uncommon CT findings and clinical and laboratory data in patients with APN. Materials and Methods From July 2009 to July 2012, CT findings and clinical data were collected from 125 female patients with APN. The six uncommon CT findings (excluding a wedge-shaped area of hypoperfusion in the renal parenchyma) studied were perirenal fat infiltration, ureteral wall edema, renal abscess formation, pelvic ascites, periportal edema, and renal scarring. The clinical parameters analyzed were the age and body mass index of the patients as well as the degree and duration of fever. Laboratory parameters related to inflammation and infection included white blood cell count, C-reactive protein (CRP) level, erythrocyte sedimentation rate, pyuria, and bacteriuria. Results The most common CT finding was perirenal fat infiltration (69 cases, 55%). A longer duration of fever, higher CRP level, and grade of pyuria were related with perirenal fat infiltration (p=0.010, p=0.003, and p=0.049, respectively). The CRP level was significantly higher in patients with renal abscess and ureteral wall edema (p=0.005 and p=0.015, respectively). Conclusions The uncommon CT findings that were related to aggravated clinical and laboratory parameters of APN patients were perirenal fat infiltration, ureteral wall edema, and renal abscess formation. The inflammatory reaction and tissue destruction may be more aggressive in patients with these CT findings. PMID:25045448

Kim, Jang Sik; Lee, Sangwook; Lee, Kwang Woo; Kim, Young Ho; Kim, Min Eui

2014-01-01

95

Intraoral Neurinoma of the Lingual Nerve: An Uncommon Tumor in Floor of the Mouth  

PubMed Central

Neurinoma or schwannoma is an uncommon benign tumor that arises primarily from the nerve sheath of Schwann cells. About 25% has been reported in head and neck region extracranially, but only 1% in the intraoral origin. Intraorally, the tongue is the most common site followed by the palate, floor of the mouth, lips and buccal mucosa. In review of literature, intraoral schwannoma of the lingual nerve origin has not been reported frequently. So, we present a case of intraoral neurinoma of the lingual nerve. PMID:24639903

Kumar kuppusamy, Santhosh; Ramkumar, Subramaniyam; Narasimhan, Malathi; Azariah Dhiravia Sargunam, Emmanuel

2014-01-01

96

Uncommon Metastasis of Laryngeal Cancer to Small Bowel Causing Intestinal Obstruction Treated by Laparoscopic Approach  

PubMed Central

Metastatic laryngeal cancer to the small bowel is extremely rare. Management of small bowel obstruction used to constitute a relative contraindication for the use of laparoscopic modality. We are reporting a case of an elderly man known to have laryngeal cancer who presented with small bowel obstruction due to metastatic deposit to the small bowel. The condition was successfully treated by laparoscopic assisted approach. A review of the natural history of advanced laryngeal cancer, common and uncommon sites of metastasis, and the rare presentation as small bowel obstruction is illustrated in this review. PMID:25254135

Al Nuaimi, Lateefa; El Salhat, Haytham; Sharma, Vasudev; Nowrasteh, Ghodratollah; Al Rawi, Sadir J.

2014-01-01

97

Spontaneous bilateral perirenal hemorrhage following prolonged fever: an uncommon presentation of polyarteritis nodosa.  

PubMed

A 68-year-old man presented with a spontaneous bilateral perirenal hemorrhage following a 2-month fever of unknown origin. A renal biopsy for a pathologic diagnosis seemed very risky because of the patient's bilateral perirenal hemorrhage. Therefore, we diagnosed polyarteritis nodosa using an abdominal computed tomography scan, a renal angiogram, and American College of Rheumatology criteria. The patient's multiple symptoms then responded well to the prescribed immunosuppressive regimen. This case is an uncommon presentation of polyarteritis nodosa with fever of unknown origin before a spontaneous bilateral perirenal hemorrhage. PMID:23110773

Cheng, Mei-Mei; Yen, Chun-Sheng; Li, Chien-Ming; Chien, Chih-Chiang; Kan, Wei- Chih

2014-05-01

98

Ruptured aneurysm of the sinus of Valsalva into the right atrium. An uncommon congenital heart defect.  

PubMed

Rupture of an aneurysm of the sinus of Valsalva is an uncommon heart defect. A continuous murmur may be the first clinical sign of this rupture. Additional imaging techniques, and in the first place echocardiography, can be used to confirm the diagnosis. We present a case where, at the age 53 years, the diagnosis was made of a ruptured sinus of Valsalva into the right atrium, with a typical windsock image on echocardiogram. Although several cases of a ruptured sinus of Valsalva are reported in the literature, it is still an underdiagnosed condition because it is frequently missed during physical examination. PMID:12836495

Budts, W; Moons, P; Mertens, L; Van de Werf, F

2003-01-01

99

Uncommon sarcomas of the uterine cervix: a review of selected entities  

PubMed Central

Sarcomas constitute less than 1% of all cervical malignancies. With over 150 reported cases, rhabdomyosarcomas represent the most commonly reported sarcoma at this location. In this report, a select group of the more uncommon sarcomas of the uterine cervix are reviewed, including all previously reported examples of leiomyosarcoma, liposarcoma, alveolar soft part sarcoma, Ewing sarcoma/primitive neuroectodermal tumor, undifferentiated endocervical sarcoma, and malignant peripheral nerve sheath tumor (MPNST). Emphasis is placed on any distinctive clinicopathologic features of these entities at this unusual location. PMID:16981999

Fadare, Oluwole

2006-01-01

100

Recurrent isolation of an uncommon yeast, Candida pararugosa, from a sarcoma patient.  

PubMed

A yeast was repeatedly isolated from the saliva of a sarcoma patient. A relatively uncommon species, Candida maris, was identified based on the API 20C profile. The yeast species most frequently obtained from the patient's mother and from clinic staff was Candida albicans. A comparison of the yeast obtained from the patient with the type strain of C. maris strongly suggested that the former was not representative of C. maris. Analysis of partial ribosomal DNA sequences of the patient strain and from the type strain of C. maris showed that the two are phylogenetically not closely related. The patient strain was very close to Candida pararugosa, a relatively uncommon asporogenous yeast. DNA reassociation studies among C. pararugosa and patient isolates showed that they were conspecific. We could not determine the source of the yeast infection. This case will alert hospital staff to be aware of the possibility of unexpected environmental microorganisms as causes of infections, colonizations and persistent environmental contamination events in immunocompromised patients. PMID:15285058

Nakagawa, Y; Robert, V; Kawarazaki, J; Epping, W; Smith, M Th; Poot, G A; Mizuguchi, I; Kanbe, T; Doi, M

2004-06-01

101

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

PubMed Central

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

2014-01-01

102

The Cyborg Astrobiologist: Scouting Red Beds for Uncommon Features with Geological Significance  

E-print Network

The `Cyborg Astrobiologist' (CA) has undergone a second geological field trial, at a red sandstone site in northern Guadalajara, Spain, near Riba de Santiuste. The Cyborg Astrobiologist is a wearable computer and video camera system that has demonstrated a capability to find uncommon interest points in geological imagery in real-time in the field. The first (of three) geological structures that we studied was an outcrop of nearly homogeneous sandstone, which exhibits oxidized-iron impurities in red and and an absence of these iron impurities in white. The white areas in these ``red beds'' have turned white because the iron has been removed by chemical reduction, perhaps by a biological agent. The computer vision system found in one instance several (iron-free) white spots to be uncommon and therefore interesting, as well as several small and dark nodules. The second geological structure contained white, textured mineral deposits on the surface of the sandstone, which were found by the CA to be interesting. The third geological structure was a 50 cm thick paleosol layer, with fossilized root structures of some plants, which were found by the CA to be interesting. A quasi-blind comparison of the Cyborg Astrobiologist's interest points for these images with the interest points determined afterwards by a human geologist shows that the Cyborg Astrobiologist concurred with the human geologist 68% of the time (true positive rate), with a 32% false positive rate and a 32% false negative rate. (abstract has been abridged).

Patrick C. McGuire; Enrique Diaz-Martinez; Jens Ormo; Javier Gomez-Elvira; Jose A. Rodriguez-Manfredi; Eduardo Sebastian-Martinez; Helge Ritter; Robert Haschke; Markus Oesker; Joerg Ontrup

2005-05-23

103

Corticosteroid Resistance in Airway Disease  

Microsoft Academic Search

Resistance to the antiinflammatory effects of corticosteroids is very uncommon in asthma but common in chronic obstructive pulmo- nary disease. Recent understanding of the molecular mechanisms involved in the antiinflammatory actions of corticosteroids has re- vealed that there are several possible mechanisms for corticosteroid resistance. Certain cytokines activate p38 mitogen-activated pro- tein kinase, which may interfere with the nuclear localization

Peter J. Barnes

2004-01-01

104

Common Misconceptions in the Diagnosis and Management of Anemia in Inflammatory Bowel Disease  

Microsoft Academic Search

Anemia is the most common systemic complication of inflammatory bowel disease (IBD); so common that it is almost invariably not investigated and rarely treated. Several misconceptions are the reason for these clinical errors, and our goal will be to review them. The most common misconceptions are: anemia is uncommon in IBD; iron deficiency is also uncommon; just by treating the

Javier P. Gisbert; Fernando Gomollón

2008-01-01

105

Surgical Management of Infants with Congenital Lobar Emphysema and Concomitant Congenital Heart Disease  

Microsoft Academic Search

Objective: Congenital lobar emphysema (CLE) is an uncommon cause of infantile respiratory distress. It is diag- nosed on the basis of evidence of lobar overaeration, mediasti- nal shift, and compression of the adjacent lobe. Concomitant congenital heart disease (CHD) and CLE is not uncommon. In the literature a 12% to 20% concomitance rate is given. The optimal treatment of respiratory

Riza Dogan; Omer Faruk Dogan; Mustafa Yilmaz; Metin Demircin; Ilhan Pasaoglu; Nural Kiper; Ugur Ozcelik; Erkmen Boke

2004-01-01

106

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

PubMed Central

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. PMID:24715915

Lee, Joycelyn; Tan, Soo Yong; Tan, Leonard H. C.; Lee, Hwei Yee; Chuah, Khoon Leong; Tang, Tiffany; Quek, Richard; Tay, Kevin; Tao, Miriam; Lim, Soon Thye; Farid, Mohamad

2014-01-01

107

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

PubMed Central

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

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

2014-01-01

108

[Juxta facet cyst of the lumbar spine: an uncommon cause of lumbar radiculopathy].  

PubMed

Lumbar juxta facet cysts (JFC) are an uncommon cause of radiculopathy. Spontaneous regression of symptomatic JFC has not often been reported. We describe 2 patients, a 59-year-old man and a 55-year-old man, with radiculopathy of the 5th lumbar nerve root due to a JFC at L4-5. The first patient recovered spontaneously. After 8 months, the JFC had clearly reduced on MRI. In the second patient the JFC was surgically resected due to progressive pain, after which the patient remained without symptoms. In the literature it is suggested that surgical removal of the JFC should be the treatment of choice. However, of the 5 patients who were diagnosed with a JFC in our department, 3 recovered spontaneously and 2 after surgery. In our opinion further studies on the course and management of symptomatic lumbar JFC are warranted. PMID:20619028

de Beukelaar, Janet W K; Dallenga, Alof; de Jong, Gert-Jan; de Winter, Koos J A Ruizeveld; Bakker, Stef L M

2010-01-01

109

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

PubMed Central

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

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

2014-01-01

110

Uncommon Pathways of Immune Escape Attenuate HIV-1 Integrase Replication Capacity  

PubMed Central

An attenuation of the HIV-1 replication capacity (RC) has been observed for immune-mediated escape mutations in Gag restricted by protective HLA alleles. However, the extent to which escape mutations affect other viral proteins during natural infection is not well understood. We generated recombinant viruses encoding plasma HIV-1 RNA integrase sequences from antiretroviral-naïve individuals with early (n = 88) and chronic (n = 304) infections and measured the in vitro RC of each. In contrast to data from previous studies of Gag, we observed little evidence that host HLA allele expression was associated with integrase RC. A modest negative correlation was observed between the number of HLA-B-associated integrase polymorphisms and RC in chronic infection (R = ?0.2; P = 0.003); however, this effect was not driven by mutations restricted by protective HLA alleles. Notably, the integrase variants S119R, G163E, and I220L, which represent uncommon polymorphisms associated with HLA-C*05, -A*33, and -B*52, respectively, correlated with lower RC (all q < 0.2). We identified a novel C*05-restricted epitope (HTDNGSNF114–121) that likely contributes to the selection of the S119R variant, the polymorphism most significantly associated with lower RC in patient sequences. An NL4-3 mutant encoding the S119R polymorphism displayed a ?35%-reduced function that was rescued by a single compensatory mutation of A91E. Together, these data indicate that substantial HLA-driven attenuation of integrase is not a general phenomenon during HIV-1 adaptation to host immunity. However, uncommon polymorphisms selected by HLA alleles that are not conventionally regarded to be protective may be associated with impaired protein function. Vulnerable epitopes in integrase might therefore be considered for future vaccine strategies. PMID:22496233

Chopera, Denis R.; Olvera, Alex; Brumme, Chanson J.; Sela, Jennifer; Markle, Tristan J.; Martin, Eric; Carlson, Jonathan M.; Le, Anh Q.; McGovern, Rachel; Cheung, Peter K.; Kelleher, Anthony D.; Jessen, Heiko; Markowitz, Martin; Rosenberg, Eric; Frahm, Nicole; Sanchez, Jorge; Mallal, Simon; John, Mina; Harrigan, P. Richard; Heckerman, David; Brander, Christian; Walker, Bruce D.; Brumme, Zabrina L.

2012-01-01

111

Uncommon pathways of immune escape attenuate HIV-1 integrase replication capacity.  

PubMed

An attenuation of the HIV-1 replication capacity (RC) has been observed for immune-mediated escape mutations in Gag restricted by protective HLA alleles. However, the extent to which escape mutations affect other viral proteins during natural infection is not well understood. We generated recombinant viruses encoding plasma HIV-1 RNA integrase sequences from antiretroviral-naïve individuals with early (n = 88) and chronic (n = 304) infections and measured the in vitro RC of each. In contrast to data from previous studies of Gag, we observed little evidence that host HLA allele expression was associated with integrase RC. A modest negative correlation was observed between the number of HLA-B-associated integrase polymorphisms and RC in chronic infection (R = -0.2; P = 0.003); however, this effect was not driven by mutations restricted by protective HLA alleles. Notably, the integrase variants S119R, G163E, and I220L, which represent uncommon polymorphisms associated with HLA-C*05, -A*33, and -B*52, respectively, correlated with lower RC (all q < 0.2). We identified a novel C*05-restricted epitope (HTDNGSNF(114-121)) that likely contributes to the selection of the S119R variant, the polymorphism most significantly associated with lower RC in patient sequences. An NL4-3 mutant encoding the S119R polymorphism displayed a ~35%-reduced function that was rescued by a single compensatory mutation of A91E. Together, these data indicate that substantial HLA-driven attenuation of integrase is not a general phenomenon during HIV-1 adaptation to host immunity. However, uncommon polymorphisms selected by HLA alleles that are not conventionally regarded to be protective may be associated with impaired protein function. Vulnerable epitopes in integrase might therefore be considered for future vaccine strategies. PMID:22496233

Brockman, Mark A; Chopera, Denis R; Olvera, Alex; Brumme, Chanson J; Sela, Jennifer; Markle, Tristan J; Martin, Eric; Carlson, Jonathan M; Le, Anh Q; McGovern, Rachel; Cheung, Peter K; Kelleher, Anthony D; Jessen, Heiko; Markowitz, Martin; Rosenberg, Eric; Frahm, Nicole; Sanchez, Jorge; Mallal, Simon; John, Mina; Harrigan, P Richard; Heckerman, David; Brander, Christian; Walker, Bruce D; Brumme, Zabrina L

2012-06-01

112

Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer  

PubMed Central

A recent genome-wide association study of bladder cancer identified the UGT1A gene cluster on chromosome 2q37.1 as a novel susceptibility locus. The UGT1A cluster encodes a family of UDP-glucuronosyltransferases (UGTs), which facilitate cellular detoxification and removal of aromatic amines. Bioactivated forms of aromatic amines found in tobacco smoke and industrial chemicals are the main risk factors for bladder cancer. The association within the UGT1A locus was detected by a single nucleotide polymorphism (SNP) rs11892031. Now, we performed detailed resequencing, imputation and genotyping in this region. We clarified the original genetic association detected by rs11892031 and identified an uncommon SNP rs17863783 that explained and strengthened the association in this region (allele frequency 0.014 in 4035 cases and 0.025 in 5284 controls, OR = 0.55, 95%CI = 0.44–0.69, P = 3.3 × 10?7). Rs17863783 is a synonymous coding variant Val209Val within the functional UGT1A6.1 splicing form, strongly expressed in the liver, kidney and bladder. We found the protective T allele of rs17863783 to be associated with increased mRNA expression of UGT1A6.1 in in-vitro exontrap assays and in human liver tissue samples. We suggest that rs17863783 may protect from bladder cancer by increasing the removal of carcinogens from bladder epithelium by the UGT1A6.1 protein. Our study shows an example of genetic and functional role of an uncommon protective genetic variant in a complex human disease, such as bladder cancer. PMID:22228101

Tang, Wei; Fu, Yi-Ping; Figueroa, Jonine D.; Malats, Nuria; Garcia-Closas, Montserrat; Chatterjee, Nilanjan; Kogevinas, Manolis; Baris, Dalsu; Thun, Michael; Hall, Jennifer L.; De Vivo, Immaculata; Albanes, Demetrius; Porter-Gill, Patricia; Purdue, Mark P.; Burdett, Laurie; Liu, Luyang; Hutchinson, Amy; Myers, Timothy; Tardon, Adonina; Serra, Consol; Carrato, Alfredo; Garcia-Closas, Reina; Lloreta, Josep; Johnson, Alison; Schwenn, Molly; Karagas, Margaret R.; Schned, Alan; Black, Amanda; Jacobs, Eric J.; Diver, W. Ryan; Gapstur, Susan M.; Virtamo, Jarmo; Hunter, David J.; Fraumeni, Joseph F.; Chanock, Stephen J.; Silverman, Debra T.; Rothman, Nathaniel; Prokunina-Olsson, Ludmila

2012-01-01

113

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

ERIC Educational Resources Information Center

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

Johnson, Dora E.; And Others

114

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

ERIC Educational Resources Information Center

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

Johnson, Dora E.; And Others

115

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

ERIC Educational Resources Information Center

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

Johnson, Dora E.; And Others

116

AN EXCITING OPPORTUNITY TO EXPERIENCE UNCOMMON LEARNING The Department of Cell Biology and Neuroscience at Montana State University offers an  

E-print Network

or entry into medical, dental, other health professions and graduate school. All of our students have in medicine or other health professions, or are interested in a biomedical sciences career in researchAN EXCITING OPPORTUNITY TO EXPERIENCE UNCOMMON LEARNING The Department of Cell Biology

Maxwell, Bruce D.

117

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

PubMed Central

Intracranial germ cell tumors are uncommon and account for only 0.3–3.4% of all intracranial tumors. Teratomas are a subset of these neoplasms, and their finding in brain structures is exceptionally rare, and occurrence within the skull base is quite novel. The authors report the case of a 57-year-old male patient who presented with vision changes, incontinence, ataxia, and altered mental status of 1 week's duration. Imaging revealed a large intrasellar mass with suprasellar extension, involvement of the ventricular system, and marked hydrocephalus with the enlargement of the lateral and third ventricles. The patient underwent a pterional craniotomy/transsylvian approach for resection of the mass. Postoperative histological examination of the resected mass was confirmatory for a mature cystic teratoma. This was followed by radiotherapy, stereotactic radiosurgery, and adjuvant radiotherapy. At the most recent followup, approximately 4 years later, the patient is doing well with improved vision since the operation. This report highlights our experience with a teratoma in a very unusual location, and we review the relevant literature. PMID:24198987

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

2013-01-01

118

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

PubMed Central

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

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

2012-01-01

119

Obstructive sleep apnea syndrome caused by uncommon tumors of the upper aerodigestive tract  

PubMed Central

Obstructive sleep apnea syndrome (OSAS) is always caused by anatomic abnormalities, including nasal cavity, pharynx, and neuromuscular dysfunctions, leading to airway narrowing. OSAS associated with a mass in the aerodigestive tract is rare. In the present study, we report OSAS caused by 9 cases of preoperative uncommon tumors in the aerodigestive tract. Two tumors in the parapharyngeal space were pleomorphic adenoma, one oropharyngeal tumor was mucoepidermoid carcinoma, one tumor in the right tonsil was schwannoma, and five tumors were non-Hodgkin’s lymphoma (NHL). Of the five NHL cases, one in the nasopharynx was diffuse large B-cell lymphoma, two were mantle cell lymphoma, one was chronic lymphocytic leukemia/small lymphocytic lymphoma, and one was NHL. Tumors in the aerodigestive tract should be considered in the differential diagnosis of OSAS upon exacerbation of snoring or sudden gasping. Further examinations should be performed, including a routine workup (computed tomography (CT) and magnetic resonance imaging) and positron emission tomography/CT. PMID:25400748

Zhu, Shao-Jun; Wang, Qin-Ying; Zhou, Shui-Hong; Bao, Yang-Yang; Wang, Shen-Qing

2014-01-01

120

Whipple's disease  

PubMed Central

Whipple's disease is a systemic bacterial infection and the common though not invariable manifestations are diarrhoea, weight loss, abdominal pain, and arthralgia. Arthritis or arthralgia may be the only presenting symptom, predating other manifestations by years. Virtually all organs in the body may be affected, with protean clinical manifestations. Various immunological abnormalities, some of which may be epiphenomena, are described. The causative organism is Tropheryma whippelii.?The disease is uncommon though lethal if not treated. Recent data suggest the disease occurs in an older age group than previously described. The characteristic histopathological features are found most often in the small intestine. These are variable villous atrophy and distension of the normal villous architecture by an infiltrate of foamy macrophages with a coarsely granular cytoplasm, which stain a brilliant magenta colour with PAS. These pathognomonic PAS positive macrophages may also be present in the peripheral and mesenteric lymph nodes and various other organs. The histological differential diagnoses include histoplasmosis and Mycobacterium avium-intercellulare complex.?The clinical diagnosis of Whipple's disease may be elusive, especially if gastrointestinal symptoms are not present. A unique sign of CNS involvement, if present, is oculofacial-skeletal myorhythmia or oculomasticatory myorhythmia, both diagnostic of Whipple's disease. A small bowel biopsy is often diagnostic, though in about 30% of patients no abnormality is present. In patients with only CNS involvement, a stereotactic brain biopsy can be done under local anaesthetic. A recent important diagnostic test is polymerase chain reaction of the 16S ribosomal RNA of Tropheryma whippelii.?Whipple's disease is potentially fatal but responds dramatically to antibiotic treatment. In this review the current recommended treatments are presented. The response to treatment should be monitored closely, as relapses are common. CNS involvement requires more vigorous treatment because there is a high rate of recurrence after apparently successful treatment.???Keywords: Whipple's disease; Tropheryma whippelii PMID:11085766

Ratnaike, R.

2000-01-01

121

[Intracranial Hodgkin disease: case report].  

PubMed

Hodgkin disease intracranial lesions are uncommon. We report the case of a 24-year-old man who presented with an intracranial relapse without other evidence of disease 24 months after multiple drug therapy and extended field radiation therapy for stage III Bb type 3 Hodgkin disease. The patient was treated by whole brain irradiation (40 Gy/20 fractions/4 weeks). Six months after completion of therapy, the patient had a second relapse, with bilateral inguinal metastatic nodes, which were treated by a second line polychemotherapy. The patient was free of disease 9 months later. PMID:12412365

Hadadi, K; Sifat, H; Saâdi, I; Kebdani, T; Kanouni, L; el Marjany, M; Mansouri, H; el Ghazi, E; Mansouri, A; Errihani, H; Benjaafar, N; el Gueddari, B K

2002-09-01

122

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

PubMed Central

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

Kamel, Ihab; Barnette, Rodger

2014-01-01

123

A case report of retroperitoneal Castleman disease  

Microsoft Academic Search

Castleman disease (CD) is an uncommon lymphoproliferative dis- order and is especially rare in the retroperitoneum or perirenal area. We report the case of a 42-year-old woman in whom we found on routine physical examination a mass localized in the right abdomen without clinically important constitutional symptoms for 30 days. Abdominal ultrasound, magnetic resonance images and computed tomography scans revealed

Peng Bo; Zheng Junhua; Gao Qiruo; Li Hong

124

Fasciola hepatica (Trematoda: Digenea): its effect on the life history traits of Pseudosuccinea columella (Gasteropoda: Lymnaeidae), an uncommon interaction  

Microsoft Academic Search

An uncommon snail-trematode interaction pattern was found for the Pseudosuccinea columella - Fasciola hepatica model under laboratory conditions. Week-old juveniles from two isolates showed very high rates of infection (90.0% and 93.3%) after exposure to five miracidia. They also showed differences in their life history traits when compared to a control group. However, they did not exhibit the increase in

Alfredo Gutiérrez; Mary Yong; Gloria Perera; Jorge Sánchez; André Théron

2002-01-01

125

Granulomatous cystitis in chronic granulomatous disease: ultrasound diagnosis.  

PubMed

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. PMID:3295735

Hassel, D R; Glasier, C M; McConnell, J R

1987-01-01

126

Cranial MRI in Wilson's disease  

Microsoft Academic Search

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

L. Prayer; D. Wimberger; J. Kramer; G. Grimm; W. Oder; H. Imhof

1990-01-01

127

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

PubMed Central

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

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

2014-01-01

128

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

PubMed

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

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

2014-01-01

129

When uncommon uncovers: mucosal tuberculosis in a medical tourist from Burundi.  

PubMed

Tuberculosis confined to the mucus membranes is a rare presentation in the era of effective chemotherapy. We describe a case of mucosal tuberculosis in a "medical tourist" from Burundi that went undiagnosed for 6 years. Starting as conjunctivitis, the disease has spread to involve the nose and larynx as well. The clinical, pathophysiological, and epidemiological aspects are discussed. PMID:22221812

Grupper, Moti; Potasman, Israel

2012-01-01

130

Parameatal ducts of glans penis. Structure, symptoms, and treatment of uncommon focus of infection.  

PubMed

It has been shown that persistent penile irritation and purulent discharge from around the urethral meatus may rarely be caused by inflammation of tiny tubular structures previously known as paraurethral ducts. They appear to be rare embryologic remnants which can be involved in the venereal disease complex. Local excision is the appropriate treatment if symptoms are not responsive to antibiotic therapy. PMID:6485200

Gilhooly, P; Hensle, T W

1984-10-01

131

Undulating tongue in Wilson's disease  

PubMed Central

We report an unusual occurrence of involuntary movement involving the tongue in a patient with confirmed Wilson's disease (WD). She manifested with slow, hypophonic speech and dysphagia of 4 months duration, associated with pseudobulbar affect, apathy, drooling and dystonia of upper extremities of 1 month duration. Our patient had an uncommon tongue movement which was arrhythmic. There was no feature to suggest tremor, chorea or dystonia. It might be described as athetoid as there was a writhing quality, but of lesser amplitude. Thus, the phenomenology was uncommon in clinical practice and the surface of the tongue was seen to “ripple” like a liquid surface agitated by an object or breeze. Isolated lingual dyskinesias are rare in WD. It is important to evaluate them for WD, a potentially treatable disorder. PMID:25024581

Nagappa, M; Sinha, S; Saini, JS; Bindu, PS; Taly, AB

2014-01-01

132

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

PubMed

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

George, Alan A; Simon, Clayton D

2014-01-01

133

Syphilis, Hepatitis, and Pancreatitis: Is the Uncommon Becoming Common in the HIV(+) Patient?  

PubMed

Background. Coinfection with human immunodeficiency virus (HIV) and syphilis has been occurring at increasing rates, with the greatest increases being seen among men who have sex with men. Secondary syphilis rarely presents with liver disease, and the diagnosis may be overlooked in favor of more common causes of liver injury in this setting, such as viral hepatitis, antiretroviral therapy, alcohol use, and opportunistic infections. Case Presentation. We describe a 43-year-old patient with HIV who presented with symptoms suggesting acute pancreatitis. Investigation led to a diagnosis of hepatitis and pancreatitis, both attributed to syphilis. Conclusion. Syphilis should be included as part of the initial diagnosis among patients with HIV presenting with abnormal liver and pancreatic enzymes. PMID:24383017

da Silva, B A; Soi, T S; Cameron, D; Karikkineth, A C; Williams, R B

2013-01-01

134

Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.  

PubMed

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. Among 522 Chinese Han SCA patients (including familial and sporadic) we have collected since 1995, approximately 40% of them have not yet been assigned genotype. To investigate the mutation frequency of KCNC3 in SCA patients from mainland Chinese Han population, we analyzed the KCNC3 gene in 201 unrelated patients diagnosed with dominantly inherited cerebellar ataxia using the denaturing high-performance liquid chromatography (DHPLC) method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified, suggesting that SCA13 be a rare form of SCA in mainland China. PMID:23293936

Peng, Lan; Wang, Chunrong; Chen, Zhao; Wang, Jun-Ling; Tang, Bei-Sha; Jiang, Hong

2013-07-01

135

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour  

PubMed Central

Summary Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions. Learning points Polyuria and polydipsia are rare symptoms of phaeochromocytoma.Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.Classic features are not always necessary for diagnostic evaluation of rare diseases. PMID:25332770

Imalke, K A C P; Madarasinghe, M; Lamahewage, A; de Silva, K S H

2014-01-01

136

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

PubMed

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

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

2014-09-01

137

Inherited renal diseases.  

PubMed

Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). Neonates with enlarged, cystic kidneys should be evaluated for PKD. Patients with ADPKD have cysts and renal enlargement. Most patients present with hypertension, hematuria or flank pain; the most common extrarenal manifestation is polycystic liver disease. Oligohydramnios, bilaterally enlarged kidneys and decreased urine are featured in utero in ARPKD. Medullary sponge kidney is uncommon and features nephrocalcinosis, recurrent calcium stones and a history of polyuria/nocturia and/or urinary tract infections. Alport syndrome (AS) is an inherited disease of the glomerular basement membrane that is usually inherited as an X-linked dominant trait. Most patients with AS present in the first two decades of life with persistent microscopic or gross hematuria. Later, proteinuria is seen and its presence portends disease progression. Other findings may include sensorineural hearing loss and ocular abnormalities. There are various inherited tubulopathies, including Bartter syndrome, a group of renal tubular disorders that consist of two phenotypes with four genotypes. Patients usually present early in life with salt wasting, hypokalemia and metabolic alkalosis. Other features, depending on genotype, may include polyhydramnios and premature birth. Gitelman syndrome is also a salt-losing tubulopathy characterized by hypokalemic alkalosis. The majority of patients with Gitelman syndrome present during adolescence or early adulthood. PMID:25088262

Leung, Jocelyn C

2014-01-01

138

Pheochromocytoma: An Uncommon Presentation of an Asymptomatic and Biochemically Silent Adrenal Incidentaloma  

PubMed Central

Pheochromocytomas are rare tumours originating from the chromaffin tissue. The clinical manifestations are variable and are not specific; as a result, pheochromocytomas often imitate other diseases. The diagnosis is usually established by biochemical studies, i.e., the measurement of catecholamines or their metabolites in urine or plasma, followed by radiographic and scintigraphic studies for localisation. Surgical removal of the tumour is the preferred treatment. We report a 30-year-old woman presenting with an adrenal incidentaloma that was 7.6 × 5.3 × 4.8 cm in size on an abdominal computed tomography scan. Investigations for adrenal hormones, including a low-dose dexamethasone suppression test, plasma aldosterone level, 24-hour urinary metanephrine and vanillylmandelic acid levels, and plasma metanephrine level were all within the normal ranges. During the surgical resection, the patient had a hypertensive spell. Surgery was postponed, and the blood pressure was adequately controlled with ? blockers, followed by ? blockers. After 2 weeks, the surgery was followed by a pathological biopsy that confirmed the pheochromocytoma diagnosis. PMID:22973143

Sunil Kumar, Kota; Siva Krishna, Kota; Sandip, Panda; Kirtikumar D, Modi

2012-01-01

139

Liver autotransplantation for the treatment of unresectable hepatic metastasis: an uncommon indication-a case report.  

PubMed

Ex situ ex vivo liver surgery represents a method to expand the surgical indications to treat otherwise unresectable liver tumors. We report the case of a 38-year old woman with hepatic metastasis from a pancreatoblastoma that was judged to be unresectable due to the involvement of the three hepatic veins. To treat the primary tumor, she underwent a pancreaticoduodenectomy, adjuvant chemotherapy, and thermal ablation of a liver metastasis. After appropriate preoperative study and with the permission of the ethics committee, she underwent ex situ ex vivo liver resection. The hepatectomy was performed by removing the whole liver en bloc with the retrohepatic vena cava. The inferior vena cava was reconstructed by interposition of a prosthetic graft. The ex situ ex vivo hepatic resection, a left hepatic lobectomy included the lesion in segments 1-5-7-8. The two hepatic veins were reconstructed using patches of saphenous vein. The organ was preserved continuously for 6 hours using hypothermic perfusion with 4°C Celsior solution. The liver was then reimplanted performing an anastomosis between the reconstructed hepatic veins and the caval prostheses. The patient was discharged at postoperative day 22 and is currently disease-free at 8 months after surgery and 44 months after the initial diagnosis. Ex situ, ex vivo liver surgery offers an additional option for patients with both primary and secondary liver tumors considered to be unresectable using traditional surgical approaches. PMID:22974875

Gringeri, E; Polacco, M; D'Amico, F E; Bassi, D; Boetto, R; Tuci, F; Bonsignore, P; Noaro, G; D'Amico, F; Vitale, A; Feltracco, P; Barbieri, S; Neri, D; Zanus, G; Cillo, U

2012-09-01

140

Myocardial infarction as an uncommon clinical manifestation of intravascular large cell lymphoma.  

PubMed

Intravascular large cell lymphoma (IVL) is a very rare variant of non-Hodgkin's lymphoma presenting with puzzling clinical manifestations. There is a predilection for the central nervous system, but the tumour often affects also skin, lung, and kidneys while lymphadenopathy and hepatosplenomegaly are usually absent. Myocardial infarction due to IVL has not been reported so far. We here report on a 56-year-old patient who was admitted to our hospital with fever and clinical signs of erysipelas. He had a 6-month history of "collagen vasculitic disease" treated with prednisolone and azathioprine. He received antibiotic treatment, but after transient improvement fever recurred with generalized seizures and myocardial infarction, which required transfer to the intensive care unit where the patient died with signs of an acute cardiogenic shock. Autopsy revealed a generalized high-grade B cell lymphoma of IVL type affecting and obstructing small vessels of a variety of tissues including heart, brain and lungs. The tumorous obliteration of small intramyocardial vessels had led to an acute ischaemia with infarction and subsequent signs of myocardial insufficiency. To the best of the authors' knowledge myocardial infarction as a leading symptom of IVL has not been described. PMID:16261789

Bauer, Alexander; Perras, Boris; Sufke, Sven; Horny, Hans-Peter; Kreft, Burkhard

2005-10-01

141

Methylphenidate intoxication: somnolence as an uncommon clinical symptom and proof of overdosing by increased serum levels of ritalinic acid.  

PubMed

There is considerable evidence for an increase of methylphenidate (MPH) abuse; thus, physicians might be confronted more frequently with MPH intoxications. Possible symptoms of intoxications with MPH are orofacial, stereotypic movements and tics as well as tachycardia, cardiac arrhythmias, arterial hypertension, hyperthermia, hallucinations and epileptic seizures. Here we report a patient who demonstrated somnolence as an uncommon clinical feature of MPH intoxication. The patient exhibited subnormal MPH serum levels (3 ?g/l), however markedly increased serum levels of ritalinic acid (821 ?g/l; inactive metabolite of MPH), that finally confirmed the initially suspected MPH intoxication. Due to the short half-life of orally administered MPH (t1/2~3 h) the sole measurement of MPH serum levels might be misleading concerning the proof of MPH overdosing in some cases. Parallel measurement of MPH and ritalinic acid is recommended in cases with suspected MPH intoxication and insufficient anamnestic data. PMID:25121992

Gahr, M; Kölle, M A

2014-09-01

142

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

PubMed

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

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

2012-09-15

143

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

PubMed Central

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

Eun, Heung Kee; Chung, Hee Sup

2014-01-01

144

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

ERIC Educational Resources Information Center

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

Weingartner, Herbert J.; And Others

1993-01-01

145

Changes in semantic memory in early stage Alzheimer's disease patients.  

PubMed

The types and number of exemplars of categories that are retrieved from semantic memory differentiate elderly normal controls and early stage Alzheimer's disease (AD) patients. Elderly normal controls generated more uncommon exemplars from closed semantic categories (fruits and vegetables) than did AD patients 2 1/2 years prior to the presumed onset of AD. AD patients, however, were just as productive as elderly normal controls in generating associations to open categories (letters). The findings suggest that one of the early cognitive symptoms of AD is changes in availability of uncommon exemplars of semantic networks. PMID:8225008

Weingartner, H J; Kawas, C; Rawlings, R; Shapiro, M

1993-10-01

146

Gallbladder disease, primary cholelithiasis, or gallbladder hydrops: review of 32 children  

Microsoft Academic Search

Gallbladder disease is generally considered uncommon in childhood, but in recent years the frequency seems to be increasing. Therefore, a review was made of children appearing with gallbladder disease during the past 10 years at the Department of Pediatric Surgery, St. Göran's Hospital, Stockholm. There were 32 patients, 15 boys and 17 girls. Two-thirds of the cases were diagnosed in

Marie-Louise Molander; Sven Bergdahl

1992-01-01

147

[Serratia marcescens osteomyelitis as the first manifestation of chronic granulomatous disease].  

PubMed

Chronic granulomatous disease is a rare, primary immunodeficiency disorder characterized by a defect in oxidative metabolism in phagocytes and recurrent bacterial and fungal infections. We report a case in a 2-month-old infant admitted with metacarpic osteomyelitis due to Serratia marcescens. Chronic granulomatous disease is rare but must be considered in cases of uncommon or atypical infection. PMID:24935451

Ben Abdallah Chabchoub, R; Maalej, B; Gargouri, L; Turki, F; Majdoub, I; Keskes, H; Barbouche, R; Ben Halima, N; Mahfoudh, A

2014-07-01

148

An unusual cause of pancytopenia: Whipple's disease  

PubMed Central

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

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

2014-01-01

149

The liver in pediatric gastrointestinal disease.  

PubMed

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

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

2014-09-01

150

Reconstructors: Uncommon Scents - Episode 3. Students learn the health effects of solvent exposure on memory and selective attention, inhalant abuse, and refusal strategies  

NSDL National Science Digital Library

In Uncommon Scents Episode 3, students investigate exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, and also learn how inhaling these product can severely damage the nervous system and other parts of the body.

Learning, Center F.

2011-09-28

151

Reconstructors: Uncommon Scents - Episode 1. Students learn the health effects of inhalant abuse and exposure to hazardous household products such as organic solvents  

NSDL National Science Digital Library

In Uncommon Scents Episode 1, students investigate a chemical accident and learn about the health effects of exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, learn how inhaling these product can severely damage the nervous system and other parts of the body, and find ways to protect themselves from exposure to toxic vapors.

Learning, Center F.

2011-09-28

152

Reconstructors: Uncommon Scents - Episode 2. Students learn the health effects of solvent exposure on memory and selective attention, inhalant abuse, and refusal strategies  

NSDL National Science Digital Library

In Uncommon Scents Episode 2, students investigate exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, and also learn how inhaling these product can severely damage the nervous system and other parts of the body.

Learning, Center F.

2011-09-28

153

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

ERIC Educational Resources Information Center

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

Dardjowidjojo, Soenjono, Comp.

154

Fasciola hepatica (Trematoda: Digenea): its effect on the life history traits of Pseudosuccinea columella (Gasteropoda: Lymnaeidae), an uncommon interaction.  

PubMed

An uncommon snail-trematode interaction pattern was found for the Pseudosuccinea columella - Fasciola hepaticamodel under laboratory conditions. Week-old juveniles from two isolates showed very high rates of infection (90.0% and 93.3%) after exposure to five miracidia. They also showed differences in their life history traits when compared to a control group. However, they did not exhibit the increase in size and reduction/cessation in host fecundity which is usually observed in most of the other related snail-trematode systems. In contrast, infected juvenile P. columella showed increased egg laying after the onset of cercarial emission and there was no effect on growth. A third isolate of P. columella was found to be refractory to miracidial infection. This constitutes the first report of non-susceptibility to F. hepatica in a lymnaeid species which is usually susceptible. These non-susceptible snails exhibited lower fecundity and survival compared to non-exposed susceptible snails under identical laboratory conditions. The differences observed in terms of life span and reproduction could result from the cost of resistance for individuals from this isolate. PMID:12107475

Gutiérrez, Alfredo; Yong, Mary; Perera, Gloria; Sánchez, Jorge; Théron, André

2002-06-01

155

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

PubMed Central

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

Benedek, Mathias; Neubauer, Aljoscha C.

2014-01-01

156

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

PubMed Central

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

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

2013-01-01

157

Three Cases of Lichen Nitidus Associated with Various Cutaneous Diseases  

PubMed Central

Lichen nitidus (LN) is an uncommon, usually asymptomatic cutaneous eruption characterized by the presence of multiple, small, flesh-colored papules. The epidemiologic and pathophysiologic characteristics of LN have not yet been defined. Furthermore, LN has rarely been described in association with other cutaneous diseases. We herein report 3 cases of LN associated with various cutaneous diseases, including lichen striatus, oral lichen planus, and psoriasis vulgaris. PMID:25143682

Cho, Eun Byul; Kim, Heung Yeol; Park, Eun Joo; Kwon, In Ho; Kim, Kwang Joong

2014-01-01

158

Imaging findings of hematologic diseases affecting the breast.  

PubMed

The breast is an uncommon manifestation site for malignant hematological diseases. Intramammary relapse can occur as an isolated tumor or as an extramedullary manifestation in systemic disease. Most published data regarding breast involvement in lymphoma or leukemia focus on the histopathologic characteristics of breast lymphoma or leukemia and do not describe radiological findings. Therefore, the purpose of this review is to provide statistical, clinical, and radiological information on hematological malignancies of the breast. PMID:24332206

Surov, Alexey

2013-12-01

159

Endoscopic Surgery with Powered Instrumentation for Isolated Sphenoid Sinus Disease  

Microsoft Academic Search

Objective: Isolated sphenoid sinus disease (ISSD) is a relatively uncommon disease. In this study, we investigate the diagnosis and pathology of ISSD and compare endoscopic treatment with powered instrumentation with conventional surgical instruments for ISSD. Methods: Ninety-six out of 2,263 patients who underwent endoscopic surgery were diagnosed with ISSD by nasal endoscopy and computed tomography scan. Ninety-six cases of confirmed

Hongmeng Yu; Huawei Li; Fanglu Chi; Chunfu Dai; Chonghua Zhang; Zhengmin Wang

2006-01-01

160

The Uncommon Core  

ERIC Educational Resources Information Center

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

Ohler, Jason

2013-01-01

161

The University's Uncommon Community  

ERIC Educational Resources Information Center

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

Harris, Suzy

2012-01-01

162

Nonseptic diseases associated with the hoof complex: keratoma, white line disease, canker, and neoplasia.  

PubMed

This article addresses nonseptic diseases associated with the hoof complex, namely keratoma, white line disease, canker, and neoplasia. Keratoma is an uncommon cause of lameness, which may be surgically removed. White line disease, a keratolytic process on the solar surface of the hoof, is treated with therapeutic farriery and resection of the hoof wall when appropriate. Equine canker is an infectious process that results in development of a chronic hypertrophy of the horn-producing tissues. Neoplasia involving the equine foot is rare, and melanoma is the most common type of neoplasm reported. PMID:22981198

Redding, W Rich; O'Grady, Stephen E

2012-08-01

163

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

PubMed Central

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

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

2013-01-01

164

Radiologically isolated syndrome: an uncommon finding at a university clinic in a high-prevalence region for multiple sclerosis  

PubMed Central

Objective The improved availability of MRI in medicine has led to an increase in incidental findings. Unexpected brain MRI findings suggestive of multiple sclerosis (MS) without typical symptoms of MS were recently defined as radiologically isolated syndrome (RIS). The prevalence of RIS is uncertain. The aim of this study was to determine the prevalence of RIS at a university hospital in a region with a high prevalence for MS and describe the long-term prognosis of the identified patients. Design Retrospective cohort study conducted in 2012. Setting All brain MRI examinations performed at Karolinska University Hospital in Huddinge, Stockholm, Sweden during 2001 were retrospectively screened by a single rater for findings fulfilling the Okuda criteria. The sample year was chosen in order to establish the long-term prognosis of the patients identified. The examinations of interest were re-evaluated according to the Barkhof criteria by a neuroradiologist with long experience in MS. Participants In total 2105 individuals were included in the study. Ages ranged from 0 to 90?years with a median age of 48?years. Only one patient with RIS was identified, equivalent to a prevalence of 0.05% in the studied population, or 0.15% among patients aged 15–40?years. The patient with RIS developed symptoms consistent with MS within 3?months accompanied with radiological progression and was diagnosed with MS. Conclusions RIS, according to present criteria, is an uncommon finding in a tertiary hospital setting in a high-prevalence region for MS where awareness and clinical suspicion of MS is common. In order to study the prognosis of RIS, multicentre studies, or case–control studies are recommended. PMID:24189079

Granberg, Tobias; Martola, Juha; Aspelin, Peter; Kristoffersen-Wiberg, Maria; Fredrikson, Sten

2013-01-01

165

Sickle cell disease in Orissa State, India.  

PubMed

A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West African origin. PMID:2430154

Kar, B C; Satapathy, R K; Kulozik, A E; Kulozik, M; Sirr, S; Serjeant, B E; Serjeant, G R

1986-11-22

166

Hairy cell leukemia presenting initially with symptoms of Behçet's disease.  

PubMed

Vasculitis is relatively uncommon in lymphoproliferative disease and may predate the diagnosis of lymphoproliferative disease. Many vasculitides have been associated with hairy cell leukemia (HCL), including polyarteritis nodosa (PAN) and leukocytoclastic vasculitis. We herein report a case whose initial presentation was like Behçet's disease (BD) (arthritis, oral and genital ulcerations, papulopustular skin lesions) in addition to pancytopenia, but turned out to have HCL. Because of the overlap between their symptoms, like oral ulcerations, skin lesions, arthritis and constitutional findings, HCL and BD may mimic each other. We should keep in mind other reasons for vasculitis such as lymphoproliferative disease, especially whose who have hematological abnormalities such as pancytopenia. PMID:24762098

Oksuz, Mustafa Ferhat; Coskun, Belkis Nihan; Tufan, Ayse Nur; Orucoglu, Nurdan; Dalkilic, Ediz; Oztürk Nazl?o?lu, Hülya; Pehlivan, Yavuz

2014-07-01

167

Activity of Linezolid against 3,251 Strains of Uncommonly Isolated Gram-Positive Organisms: Report from the SENTRY Antimicrobial Surveillance Program  

Microsoft Academic Search

Linezolid was tested against 32 species of uncommonly isolated gram-positive organisms (3,251 strains) by reference MIC methods and found to be highly active (MIC50 range, 0.25 to 2 g\\/ml; MIC90 range, 0.25 to 2 g\\/ml). Only one isolate (viridans group streptococcus; 0.03% of tested strains) was resistant to linezolid.

Ronald N. Jones; Matthew G. Stilwell; Patricia A. Hogan; Daniel J. Sheehan

2007-01-01

168

Systemic vasculitis with prolonged pyrexia, recurrent facial urticaria, skin nodules, pleural effusions and venous thrombosis: an unusual presentation of an uncommon disease  

PubMed Central

Classically presenting with multiple or single peripheral cytopenias of variable severity, the myelodysplastic syndromes may occasionally present with bizarre manifestations that confuse the clinical picture and result in significant delays in making the correct diagnosis. We describe the case of an elderly male patient whose presentation with prolonged unexplained fever coupled with cutaneous, pulmonary and other systemic features of inflammation was finally diagnosed as having a primary myelodysplastic syndrome with associated vasculitis after a delay of 4 years. PMID:22031795

Hassan, Imad Salah; Dar, Javeed

2011-01-01

169

A Case of Hemolytic Disease of the Newborn Infant due to Anti-? (Cellano)  

Microsoft Academic Search

Hemolytic disease of the newborn infant (HDN) due to anti-? (Cellano) is very uncommon in Caucasians. We report here a case of anti-? HDN. The anti-? alloimmunization appeared in the mother during her fifth pregnancy. This HDN needed an exchange transfusion immediately after delivery. The clinical outcome of the newborn infant was good.Copyright © 1991 S. Karger AG, Basel

P. Moncharmont; F. Juron-Dupraz; M. Doillon; M. Vignal; P. Debeaux

1991-01-01

170

Generalized lichen nitidus in a boy with Niemann-Pick disease type B.  

PubMed

Generalized lichen nitidus is an uncommon chronic inflammatory dermatosis with very characteristic histological findings. Its pathogenesis is still unclear; very rarely it has been associated with genetic disorders. Herein we report the case of a 12-year-old boy with Niemann-Pick disease who developed generalized lichen nitidus. PMID:24474110

Teixeira, Vera Barreto; Coutinho, Inês; Cardoso, José Carlos; Tellhechea, Óscar

2013-01-01

171

Chronic intestinal graft-versus-host disease: clinical, histological and immunohistochemical analysis of 17 children  

Microsoft Academic Search

Graft-versus-host disease (GVHD) can be acute or chronic. The pathogenesis of chronic GVHD is unclear. Chronic GVHD affects mainly skin, liver and digestive tract. Intestinal involvement is uncommon and histological features are poorly described. We report here the clinical, histological and immunohistochemical features of chronic GVHD with intestinal involvement. Intestinal biopsies from children with chronic GVHD (n = 17) were

N Patey-Mariaud de Serre; D Reijasse; V Verkarre; D Canioni; V Colomb; E Haddad; N Brousse

2002-01-01

172

Surgical intervention for complications of transcatheter dilation procedures in congenital heart disease  

Microsoft Academic Search

Background. Transcatheter interventions have assumed an important role in the management of many forms of congenital heart disease. While complications of transcatheter interventions are uncommon and usually minor, significant complications requiring operation do occur on occasion. The purpose of this report is to present our experiences with seven such complications, and to review the literature on this topic.Methods. Seven patients

Doff B McElhinney; V. Mohan Reddy; Phillip Moore; Michael M Brook; Frank L Hanley

2000-01-01

173

Surgical Intervention for Complications of Transcatheter Dilation Procedures in Congenital Heart Disease  

Microsoft Academic Search

Background. Transcatheter interventions have assumed an important role in the management of many forms of congenital heart disease. While complications of trans- catheter interventions are uncommon and usually minor, significant complications requiring operation do occur on occasion. The purpose of this report is to present our experiences with seven such complications, and to re- view the literature on this topic.

Doff B. McElhinney; V. Mohan Reddy; Phillip Moore; Michael M. Brook; Frank L. Hanley

2010-01-01

174

[CANCER RESEARCH 60, 24922496, May 1, 2000] Genetic Instability and Hematologic Disease Risk in Werner Syndrome  

E-print Network

premature aging and includes genetic instability and an elevated risk of neoplasia (2, 3). To further in Werner Syndrome Patients and Heterozygotes1 Michael J. Moser, William L. Bigbee, Stephen G. Grant, Mary J [R. H. J.] ABSTRACT Werner syndrome (WRN) is an uncommon autosomal recessive disease in which

Monnat, Ray

175

Recommendations for Physical Activity and Recreational Sports Participation for Young Patients With Genetic Cardiovascular Diseases  

Microsoft Academic Search

A group of relatively uncommon but important genetic cardiovascular diseases (GCVDs) are associated with increased risk for sudden cardiac death during exercise, including hypertrophic cardiomyopathy, long-QT syndrome, Marfan syndrome, and arrhythmogenic right ventricular cardiomyopathy. These conditions, characterized by diverse phenotypic expression and genetic substrates, account for a substantial proportion of unexpected and usually arrhythmia-based fatal events during adolescence and young

Barry J. Maron; Bernard R. Chaitman; Michael J. Ackerman; Antonio Bayés de Luna; Domenico Corrado; Jane E. Crosson; Barbara J. Deal; David J. Driscoll; N. A. Mark Estes III; Claudio Gil; S. Araújo; David H. Liang; Matthew J. Mitten; Robert J. Myerburg; Antonio Pelliccia; Paul D. Thompson; Jeffrey A. Towbin; Steven P. Van Camp

176

Hydatid cyst disease of the lung as an unusual cause of massive hemoptysis: a case report  

PubMed Central

Introduction Echinococcosis and/or hydatidosis is one of the most important zoonotic diseases in the world. In Turkey, echinococcosis is an endemic disease, however, hydatid disease of the lung is uncommon and usually caused by Echinococcus granulosus. Case presentation In this report we describe a 17-year-old male patient who presented with massive hemoptysis due to hydatid disease of the lung. Conclusion Although it is one of the less common causes of massive hemoptysis, hydatid disease of the lung requires greater attention in countries, such as Turkey, in which hydatid cyst disease is common. PMID:19166598

2009-01-01

177

Ehlers–Danlos syndrome in the parturient: an uncommon disorder–common dilemma in the delivery room  

Microsoft Academic Search

Description  Ehlers–Danlos syndrome (EDS) is a rare genetically transmitted connective tissue disorder, non-specific to pregnancy.Conclusion  Because of multi-organ involvement and the varied presentations of this disease, no uniform obstetric and anesthetic recommendations regarding the peripartum care of these parturients can be made.

Krzysztof M. Kuczkowski

2005-01-01

178

Hemolytic Disease of the Newborn Anti c Antibody Induced Hemolysis  

Microsoft Academic Search

Hemolytic disease in the newborn, as a cause of early jaundice, is not uncommon. This is mostly due to Rh (D), ABO incompatibility\\u000a and rarely due to other minor blood group incompatibility. The authors report two cases of Rh anti c isoimmunization presenting\\u000a as significant early neonatal jaundice within the 20 h of life. Both the babies were treated with intensive

Srinivas Murki; Hemasree Kandraju; Surekha A. Devi

179

Chronic graft-versus-host disease complicated by nephrotic syndrome  

Microsoft Academic Search

Chronic graft-versus-host disease (cGVHD) is one of the most frequent and serious complications of allogeneic hematopoietic stem cell transplantation (HSCT). Nephrotic syndrome (NS) is an uncommon and underrecognized manifestation of cGVHD. We report a patient who developed NS 18 months after allogeneic bone marrow transplantation. The onset of NS was accompanied by active manifestations of cGVHD, and immunosuppressants had not

Hsin-Hui Wang; An-Hang Yang; Ling-Yu Yang; Giun-Yi Hung; Jei-Wen Chang; Chun-Kai Wang; Tzong-Yann Lee; Ren-Bin Tang

2011-01-01

180

Recurrent eosinophilic cystitis in a child with chronic granulomatous disease.  

PubMed

Eosinophilic cystitis is an uncommon disease in children, and its association with chronic granulomatous disease (CGD) has been previously reported in only five patients. In all those patients the disease showed either a self-limited benign course or a rapid response to corticosteroid treatment. The authors describe a child with X-linked CGD who developed eosinophilic cystitis with a recurrent course and difficult therapeutic management. The authors also discuss the pathogenesis of granuloma formation in CGD and review the literature for current therapies for these complications. PMID:15125617

Barese, Cecilia N; Podestá, Miguel; Litvak, Edith; Villa, Mariana; Rivas, Eva María

2004-03-01

181

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

PubMed Central

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

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

2014-01-01

182

Cutaneous metastases presenting as genital ulcer disease  

PubMed Central

Cutaneous metastasis from an internal organ malignancy is rare and as, the presenting sign of malignancy is an uncommon phenomenon. Their presence, signals a poor prognosis. We report a case of 50-year-old female who was referred to sexually transmitted diseases - out patient department, with complaints of multiple genital ulcers to rule out sexually transmitted infections. After thorough evaluation, she was found to be a case of carcinoma cervix with metastatic squamous cell carcinomatous deposits on external genitalia. This case was unique because of relatively asymptomatic nature of internal malignancy and atypical presentation of carcinoma cervix as cutaneous metastasis. PMID:24958986

Vasuki, S.; Durgalakshmi, J.; Latha, J.

2014-01-01

183

Autoinflammatory Diseases  

MedlinePLUS

... new category of diseases that are different from autoimmune diseases. However, autoimmune and autoinflammatory diseases share common characteristics ... mistake and signals the body to destroy them. Autoimmune disease. A disease that results when the immune system ...

184

Epidemiology and clinical management of Legionnaires' disease.  

PubMed

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

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

2014-10-01

185

Imatinib Added to Chemotherapy Keeps Disease in Check for Longer in Children with Rare Form of Acute Lymphoblastic Leukemia  

Cancer.gov

The addition of the targeted drug imatinib to chemotherapy for children with an uncommon form of acute lymphoblastic leukemia (ALL) dramatically improved the length of time the disease remained in remission, according to the November 1, 2009, Journal of Clinical Oncology.

186

Compression of the central airways by a dilated aorta in infants and children with congenital heart disease  

Microsoft Academic Search

Background. Children with congenital heart disease often experience respiratory symptoms in the preoperative and perioperative periods, which can complicate their management. An uncommon but important cause of respiratory insufficiency in such children is external airway compression.Methods. We operated on 5 patients (median age, 6 months) with significant respiratory distress attributable to compression of the central airways by a dilated ascending

Doff B McElhinney; V. Mohan Reddy; Mark S Pian; Phillip Moore; Frank L Hanley

1999-01-01

187

Posterior cortical atrophy in Alzheimer's disease: analysis of a new case and re-evaluation of a historical report  

Microsoft Academic Search

Disturbances of visual function are not uncommon in Alzheimer's disease and several cases with complex impairment of visuospatial abilities have been described. For instance, posterior cortical atrophy has been demonstrated in cases displaying Balint's syn-drome as the first symptom of the dementing illness. Such cases showed very high lesion counts in the occipital cortex, as well as in visual association

P. R. Hof; N. Archin; A. P. Osmand; J. H. Dougherty; C. Wells; C. Bouras; J. H. Morrison

1993-01-01

188

Diffuse excess mucosal collagen in rectal biopsies facilitates differential diagnosis of solitary rectal ulcer syndrome from other inflammatory bowel diseases  

Microsoft Academic Search

Solitary rectal ulcer syndrome (SRUS) is sufficiently uncommon that the clinician or general pathologist may lack familiarity with the disorder and may confuse it with other inflammatory bowel diseases. To evaluate the role of collagen staining in facilitating the differential diagnosis of SRUS, an initial open review was undertaken on 1672 consecutive patients whose 4780 colorectal biopsies were stained with

Douglas S. Levine; Christina M. Surawicz; Terese N. Ajer; Patrick J. Dean; Cyrus E. Rubin

1988-01-01

189

Kaposi sarcoma in association with molluscum contagiosum: an uncommon diagnosis in a single biopsy and potential diagnostic pitfall.  

PubMed

Molluscum contagiosum is a cutaneous poxviral infection that is rarely associated with other skin diseases, such as cutaneous neoplasms. Such associations are likely to be coincidental, except in immunocompromised patients. Kaposi sarcoma, an angioproliferative neoplasm derived from lymphatic endothelium, is mediated by human herpes virus-8 infection and occurs with increased frequency in immunocompromised individuals. We report an unusual case of molluscum contagiosum with underlying cutaneous Kaposi sarcoma diagnosed in a single skin biopsy of a human immunodeficiency virus-positive patient. Our case highlights the importance of adequate sampling to avoid missing secondary diagnoses in histopathologic sections and alerts pathologists and dermatologists to the possibility of coinfection in high-risk patients by 2 virally-mediated skin conditions. PMID:22262366

Prasad Busarla, Satya Vara; Sayed, Shahin; Nazarian, Rosalynn M; Gimbel, Devon C; Moloo, Zahir; Sohani, Aliyah R

2012-02-01

190

Diffuse Caroli's disease with atypical presentation: a case report  

PubMed Central

This paper describes a case of Caroli’s disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli’s syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form of Caroli’s disease that should be included in the differential diagnosis of patients with recurrent abdominal pain. PMID:24714420

Acioli, Maira Lima; Costa, Lawrence Raizama Goncalves; de Miranda Henriques, Monica Souza

2014-01-01

191

Duplication cyst of the stomach with respiratory epithelium in adult: an uncommon finding. Report of case and review of literature.  

PubMed

Gastrointestinal duplication is a congenital rare disease entity. Duplication cyst of the stomach with pseudo stratified columnar ciliated epithelium is extremely rare. The very appearance of a gastric duplication cyst in an adult can present a diagnostic dilemma. In majority of reported cases, the diagnosis is established during surgical exploration. We report on a 34 year-old female patient suffering from repeated episodes of epigastric pain and gastroesophageal reflux. Abdominal computed tomography and endoscopic ultrasound demonstrated a intramural lesion attached to the gastric fundus, suggestive of gastrointestinal stromal tumor (GIST). At exploratory laparotomy a non-communicating cyst, was found along the greater curvature of the stomach in the esophagogastric transition. The lesion was excised along with an adjacent sleeve of the stomach and esophagus wall because shared muscular layer with the stomach and esophagus. The final pathologic examination revealed that the inner wall of the cyst was lined by a pseudostratified columnar ciliated epithelium (respiratory type) and, in part, columnar and gastric foveolar epithelium. Even though a panel of imaging modalities is available, it is still difficult to obtain a preoperative diagnosis. Duplication cyst can be mistaken for a soft tissue tumor of the gastrointestinal tract. There is no therapeutic algorithm. Surgical treatment is recommended for symptomatic cases. PMID:22229239

Montemurro, Severino; Cartanese, Carmine; De Luca, Raffaele; Zito, Francesco Alfredo; Ranieri, Girolamo; Ruggieri, Eustachio

2011-01-01

192

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

NASA Astrophysics Data System (ADS)

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.

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

2014-01-01

193

Controlling distant metastasis and surgical treatment are crucial for improving clinical outcome in uncommon head and neck malignancies, such as non-squamous cell carcinoma  

PubMed Central

The objective of this study was to elucidate the clinical characteristics of uncommon head and neck malignancies, such as non-squamous cell carcinoma (SCC), in order to improve patient outcomes. A total of 463 head and neck malignancies were retrospectively analyzed, with 43 cases (9.3%) diagnosed as non-SCC. The overall survival rate of patients with adenoid cystic carcinoma was significantly worse compared to that of patients with SCC. The 5-year survival rates were <50% for patients with malignant melanoma, adenocarcinoma, small-cell carcinoma and sarcomas. Distant metastasis to the lung was frequently observed in cases with a poor outcome. Non-SCC malignancies treated without surgery were associated with a worse outcome. Some non-SCC patients had a poor prognosis and distant metastasis was associated with an unsatisfactory outcome. Timely treatment and control of distant metastasis are essential and surgical treatment should be prioritized in non-SCC cases to improve patient outcomes. PMID:24940505

SHIIBA, MASASHI; UNOZAWA, MOTOHARU; HIGO, MORIHIRO; KOUZU, YUKINAO; KASAMATSU, ATSUSHI; SAKAMOTO, YOSUKE; OGAWARA, KATSUNORI; UZAWA, KATSUHIRO; TAKIGUCHI, YUICHI; TANZAWA, HIDEKI

2014-01-01

194

Zinc absorption in inflammatory bowel disease  

SciTech Connect

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.

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

1986-07-01

195

Ribbing disease.  

PubMed

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. PMID:20351994

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

2010-02-01

196

Ribbing disease  

PubMed Central

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. PMID:20351994

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

2010-01-01

197

Concurrent smoking-related interstitial lung diseases in a single patient.  

PubMed

The three smoking-related interstitial lung diseases (ILD) include desquamative interstitial pneumonia (DIP), respiratory bronchiolitis-associated interstitial lung disease (RB-ILD), and pulmonary Langerhans cell histiocytosis (PLCH). They are considered discrete entities, yet it is not unusual to find a mixture of pathologic features rendering the histopathologic diagnosis difficult. It is uncommon to have overlap in the different radiologic findings between these diseases. We present a unique case, in that the extent of DIP and PLCH-like changes were manifested both histologically and on high resolution computed tomography (HRCT) with ground-glass attenuation and upper lobe cystic changes suggestive of both diseases. PMID:19139702

Altayeh, Abdullah; Alkhankan, Fadi; Triest, William; Badin, Shadi

2009-02-01

198

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

PubMed Central

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

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

2012-01-01

199

Alzheimer's disease: an evolutionary approach.  

PubMed

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

Bufill, Enric; Blesa, Rafael; Augustí, Jordi

2013-01-01

200

Heart Disease  

MedlinePLUS

... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the ... burst blood vessel. Continue How Do You Get Heart Disease? Heart disease isn't contagious — you can' ...

201

Crohn's Disease  

MedlinePLUS Videos and Cool Tools

... women are affected equally. Crohn's disease affects small children, too. The most common symptoms of Crohn's Disease ... an abnormally low number of red blood cells. Children with Crohn's disease may have impaired growth and ...

202

Infectious Diseases  

MedlinePLUS

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

203

Kennedy's Disease  

MedlinePLUS

... Kennedy's Disease? Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of ...

204

Farber's Disease  

MedlinePLUS

... a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, ... Institutes of Health (NIH), conducts research about lipid storage diseases such as Farber’s disease in laboratories at ...

205

Graves' Disease  

MedlinePLUS

... and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the body’s own cells ... will be affected is difficult. People with other autoimmune diseases have an increased chance of developing Graves’ disease. ...

206

An uncommonly serious case of an uncommon sport injury  

PubMed Central

Methods: A suprachoroidal haemorrhage was drained and dense intravitreal blood was removed. An inferior buckle was applied with the use of intraocular gas. A macular haemorrhage resolved slowly. Results: Despite several surgical procedures over 1.5 years, the final visual acuity of the patient was only 6/60 because of a dense macular scar. Conclusions: Helmets worn as protection when playing cricket need to be designed better and be of better material. Eye protection should be worn at all levels of play. PMID:16046321

Abedin, A; Chen, H; Carson, J

2005-01-01

207

Lyme disease in the United Kingdom.  

PubMed

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

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

2014-01-01

208

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

PubMed

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

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

2014-01-01

209

Studying gene and gene-environment effects of uncommon and common variants on continuous traits: a marker-set approach using gene-trait similarity regression.  

PubMed

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

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

2011-08-12

210

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

PubMed Central

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

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

2011-01-01

211

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

PubMed Central

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

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

2014-01-01

212

A very rare case of Cushing's disease for cesarean section: What the anesthesiololgist needs to know  

PubMed Central

Cushing's syndrome is uncommon in pregnancy, and Cushing's disease being the cause for this syndrome is still rare. We had the opportunity to manage such a patient admitted for cesarean section. Here, we describe the evaluation of a patient with Cushing's syndrome in pregnancy along with its anesthetic implications. By describing this case, we intend to emphasize the role of the anaesthesiologist as a peri operative physician.

Ghodki, Poonam S.; Harnagle, K. D.; Thombre, S. K.

2011-01-01

213

Successful treatment of Kimura's disease with leflunomide and methylprednisolone: a case report  

PubMed Central

Kimura’s disease (KD) is an uncommon, chronic inflammatory disease characterized by tumor-like lesions in the soft tissue and lymph nodes and increased peripheral blood eosinophil counts and serum immunoglobulin E (IgE). Prednisone is widely used to treat the disease. Here, we reported a 59-year-old KD patient failed to response to prednisone. Leflunomide combined with methylprednisolone (Medrol) were carried out to treat KD and encouraging outcome was obtained during the medication and 1 year follow up period.

Ma, Xiao-Rong; Xin, Shu-Jia; Ouyang, Tian-Xiang; Ma, Yue-Ting; Chen, Wei-Ying; Chang, Meng-Ling

2014-01-01

214

Current Status of Therapy in Autoimmune Liver Disease  

PubMed Central

Therapeutic strategies for autoimmune liver diseases are increasingly established. Although proportionately uncommon, specialist centers have with time refined the best approaches for each disease, based on an improved understanding of the spectrum of presentation. The major treatment aims are to prevent end-stage liver disease and its associated complications. As a result of drugs such as ursodeoxycholic acid, predniso(lo)ne and azathioprine, both primary biliary cirrhosis and autoimmune hepatitis are now less commonly indications for liver transplantation. Unfortunately, the same inroads in treatment efficacy have as yet not been made for primary sclerosing cholangitis, although the recognition that a subset of patients may have a treatable secondary sclerosing cholangitis (IgG4 related) is helping a proportion. With better biological understanding, more specific interventions are expected that will benefit all those with autoimmune liver diseases. PMID:21180531

Al-Harthi, Nadya; Heathcote, E. Jenny

2009-01-01

215

Myxomatous mitral valve disease in dogs: Does size matter?  

PubMed Central

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

Parker, Heidi G.; Kilroy-Glynn, Paul

2012-01-01

216

Hemochromatosis. Common genes, uncommon illness?  

PubMed Central

OBJECTIVE: To increase family physicians' awareness of the prevalence of hemochromatosis and to suggest strategies for diagnosis and management of hemochromatosis with the goal of decreasing the development of associated life-threatening conditions. QUALITY OF EVIDENCE: A MEDLINE search from January 1966 to January 2002 using the MeSH term hemochromatosis/therapy found no randomized controlled trials. A further search from January 1990 to January 2002, using the heading hemochromatosis and subheadings diagnosis, epidemiology, genetics, and therapy, found articles with level II evidence (case-control and cross-sectional studies) and level III evidence (descriptive studies and reports from expert committees). Articles were selected based on clinical relevance. MAIN MESSAGE: Hemochromatosis is the most common hereditary condition in populations of Northern European descent, affecting three to five people per thousand. Many of these people remain undiagnosed with this condition. The iron overload associated with hemochromatosis can lead to serious, life-threatening conditions, such as diabetes, hepatic cirrhosis, primary liver cancer, and cardiomyopathy. Family physicians can screen patients they suspect are at risk of hemochromatosis with simple indirect serum iron measurements (transferrin saturation and serum ferritin) and with widely available genetic tests (C282Y and H63D). Studies of families can help uncover further cases of hemochromatosis; population screening is currently under study. CONCLUSION: Family physicians can facilitate early diagnosis of hemochromatosis by maintaining a high index of suspicion in patients with early signs or symptoms or in high-risk groups, and screening these patients for hemochromatosis. PMID:12228962

Harrison, Helen; Adams, Paul C.

2002-01-01

217

Five Uncommon but Useful Knots.  

ERIC Educational Resources Information Center

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

Chisnall, Rob

1997-01-01

218

[Videothoracoscopy, standard and uncommon indications].  

PubMed

The authors' communication deals with standard cases of the application of thoracoscopy in the diagnostics and treatment. On the Cardiological Clinic of the Medical School of the Charles University and University Hospital in Hradec Králové they performed in the period 2000-2004 153 out of 837 operations using thoracoscopy (18.3%) and 22 using video assisted thoracoscopy (2.6%). Apart from the standard indications the authors mention two rare thoracoscopies when extracting a foreign body from the thorax and lungs. PMID:17969982

Habal, P; Simek, J

2007-08-01

219

Uncommon upper extremity compression neuropathies.  

PubMed

Hand surgeons routinely treat carpal and cubital tunnel syndromes, which are the most common upper extremity nerve compression syndromes. However, more infrequent nerve compression syndromes of the upper extremity may be encountered. Because they are unusual, the diagnosis of these nerve compression syndromes is often missed or delayed. This article reviews the causes, proposed treatments, and surgical outcomes for syndromes involving compression of the posterior interosseous nerve, the superficial branch of the radial nerve, the ulnar nerve at the wrist, and the median nerve proximal to the wrist. PMID:23895725

Knutsen, Elisa J; Calfee, Ryan P

2013-08-01

220

Perioral dermatitis: an uncommon condition?  

PubMed Central

To document the persistence of perioral dermatitis at dermatology clinics at University Hospital, Saskatoon, we reviewed the charts of all patients with the condition seen between January 1983 and March 1985. Patients with rosacea referred to the clinics during the same period were used as a comparison group. A total of 80 patients with perioral dermatitis and 117 patients with rosacea were seen during the study period; most were female. Those with perioral dermatitis were significantly younger and had a significantly shorter mean duration of the eruption before presentation than those with rosacea (p less than 0.001). The distribution of the lesions was different in the two groups. Sixty-eight (85%) of the patients with perioral dermatitis and 45 (38%) of those with rosacea had used topical corticosteroids, a postulated risk factor for perioral dermatitis; the use of potent topical corticosteroids was frequent in both groups. Despite continuing medical education on the dangers of chronic use of these agents for eruptions on the face, physicians continue to prescribe them. Images Fig. 1 Fig. 2 Fig. 3 PMID:2938708

Hogan, D J; Epstein, J D; Lane, P R

1986-01-01

221

Heart Diseases  

MedlinePLUS

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

222

Acute graft versus host disease after orthotopic liver transplantation  

PubMed Central

Graft versus host disease (GVHD) is an uncommon complication after orthotopic liver transplantation (OLT) with an incidence of 0.1–2%, but an 80–100% mortality rate. Patients can present with skin rashes, diarrhea, and bone marrow aplasia between two to eight weeks after OLT. Diagnosis of GVHD is made based on clinical and histologic evidence, supported by chimerism studies showing donor HLA alleles in the recipient bone marrow or blood. Several therapeutic approaches have been used for the management of GVHD after OLT including increased immunosuppression, decreased immunosuppression, and cellular therapies. However, success rates have been low, and new approaches are needed. PMID:22889203

2012-01-01

223

Celiac Disease  

MedlinePLUS

... immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small ...

224

Celiac Disease  

MedlinePLUS

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

225

Wildlife Diseases  

E-print Network

Some wildlife diseases can be transmitted to humans. This leaflet explains the causes and symptoms of rabies, giardiasis, bubonic plague, Rocky Mountain spotted fever, Lyme disease, tularemia, leptospirosis and histoplasmosis....

Texas Wildlife Services

2007-03-13

226

Pick disease  

MedlinePLUS

... in behavior Failure to show emotional warmth, concern, empathy, sympathy Inappropriate mood Not caring about events or ... disease. Medicines may help manage mood swings. Sometimes, patients with Pick disease take the same medicines used ...

227

Krabbe disease  

MedlinePLUS

... age) Unexplained fevers Vision loss that leads to blindness Vomiting Late-onset Krabbe disease: Vision problems may ... damages the central nervous system . It can cause: Blindness Deafness Severe problems with muscle tone The disease ...

228

Hirschsprung Disease  

MedlinePLUS

... Disease Hirschsprung (say "HERSH-sproong") disease affects the large intestine (colon) of newborns, babies, and toddlers. The condition — ... and treated as early as possible. Causes The large intestine moves digested material through the gut by a ...

229

Legionnaires' Disease  

MedlinePLUS

... Disease Sources Investigation Protocol Outbreak Response What is Legionella? Exposure and Transmission Disease Symptoms Incidence and Risk ... form of pneumonia. More than 43 species of Legionella have been identified and more than 20 linked ...

230

Hirschsprung's disease  

MedlinePLUS

... blockage. The bowel and abdomen swell as a result. Hirschsprung's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes linked to other inherited ...

231

Lyme Disease  

MedlinePLUS Videos and Cool Tools

... nodes. They divide and multiply and produce harmful substances called toxins. Lyme disease is not contagious. . Symptoms ... nodes. They divide and multiply and produce harmful substances called toxins. Lyme disease can also affect the ...

232

Fifth disease  

MedlinePLUS

... human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the ... sickle cell anemia Fifth disease can cause severe anemia , which will need medical treatment.

233

Behcet's Disease  

MedlinePLUS

... other diseases of the digestive tract, such as ulcerative colitis and Crohn’s disease, careful evaluation is essential to ... is put directly on the affected body part. Ulcerative colitis. Inflammation of the colon. Symptoms include stomach pain ...

234

Fungal Diseases  

MedlinePLUS

... and what we are doing about fungal diseases… Fungal Resources and Training for Healthcare Professionals Print page Contact Us: Centers for Disease Control and Prevention 1600 Clifton Rd Atlanta, GA 30333 ...

235

Reportable diseases  

MedlinePLUS

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

236

Redefining Disease?  

Microsoft Academic Search

How will developments in genetic knowledge affect the classification of disease? Leaders in genetics have suggested that knowledge of the role of genes in dis- ease can determine nosology. Diseases might be defined by genotype, thus avoiding the limitations of more empirical approaches to categorization. Other commentators cau- tion against disease definitions that are detached from the look and feel

Fiona Alice Miller; Megan E. Begbie; Mita Giacomini; Catherine Ahern; Erin A. Harvey

2006-01-01

237

Prostate Diseases  

MedlinePLUS

Aging & Health A to Z Prostate Diseases Basic Facts & Information What are Prostate Diseases? The prostate—one of the components of a man's sex organs—is a ... out anything serious. The Most Common Types of Prostate Diseases Benign prostatic hyperplasia (BPH) Prostatitis Prostate cancer ...

238

[Schindler disease/Kanzaki disease].  

PubMed

Schindler disease and Kanzaki disease are caused by a deficient lysosomal enzyme, alpha-N-acetylgalactosaminidase (E.C.3.2.1.49). Two German children were first reported in 1987 and other two Dutch children were recently reported in 1993. These children were very similar clinically and characterized by maked neuroaxonal dystrophy of an infantile onset. This disease (type 1) was named Schindler disease. On the other hand, an adult patient with profuse angiokeratoma corporis diffusum but minimum involvement in nervous system was reported in 1987 from Japan. This disease (type 2) was named Kanzaki disease (Mckusick catalog No. 104170). Molecular analyses of these diseases revealed one each point mutation in the encoding gene. Clinical, ultrastructural and molecular studies of these disease were described. PMID:8577046

Kanzaki, T

1995-12-01

239

Eosinophil-associated lung diseases. A cry for surfactant proteins a and d help?  

PubMed

Surfactant proteins (SP)-A and SP-D (SP-A/-D) play important roles in numerous eosinophil-dominated diseases, including asthma, allergic bronchopulmonary aspergillosis, and allergic rhinitis. In these settings, SP-A/-D have been shown to modulate eosinophil chemotaxis, inhibit eosinophil mediator release, and mediate macrophage clearance of apoptotic eosinophils. Dysregulation of SP-A/-D function in eosinophil-dominated diseases is also not uncommon. Alterations in serum SP-A/-D levels are associated with disease severity in allergic rhinitis and chronic obstructive pulmonary disease. Furthermore, oligimerization of SP-A/-D, necessary for their proper function, can be perturbed by reactive nitrogen species, which are increased in eosinophilic disease. In this review, we highlight the associations of eosinophilic lung diseases with SP-A and SP-D levels and functions. PMID:24960334

Ledford, Julie G; Addison, Kenneth J; Foster, Matthew W; Que, Loretta G

2014-11-01

240

Sterile epidural and bilateral psoas abscesses in a patient with Crohn's disease.  

PubMed

Crohn's disease primarily affects the distal gastrointestinal tract, yet it is a systemic disease that can involve nearly any organ. A psoas abscess complicating Crohn's disease is uncommon and usually originates from a fistulous communication with an adherent bowel. Spinal epidural abscess, an extremely rare complication, also appears to arise by fistulization from another organ involved with Crohn's disease. Previous reports indicate that abscesses in these two areas usually contain bacterial organisms, often mixed flora, consistent with seeding from a diseased bowel. This report represents the first case of Crohn's disease complicated by both bilateral sterile psoas abscesses and a coexistent sterile epidural abscess without evidence of a fistulous communication from the bowel. We report this case because psoas and epidural abscesses can present without typical signs and symptoms. Once suspected, aggressive diagnostic workup and definitive operative intervention is indicated. Failure to promptly diagnose and treat these abscesses may result in considerable morbidity. PMID:8017369

Lamport, R D; Cheskin, L J; Moscatello, S A; Nikoomanesh, P

1994-07-01

241

Cardiovascular Disease (CVD) Coronary heart disease  

E-print Network

1 Cardiovascular Disease (CVD) · Coronary heart disease · Cerebrovascular disease · Peripheral arterial disease · Rheuma7c heart disease · Congenital heart disease · Deep vein thrombosis and pulmonary embolism Atherosclerosis CVD is caused by damage caused

Dever, Jennifer A.

242

The challenge of treating orphan disease.  

PubMed

Uncommon or orphan diseases are less frequently addressed in mainstream medical journals and, as a consequence, their understanding and clinical recognition may rely on case series or anecdotal data with limited guidelines and management directions. The study of selected underrepresented autoimmune and allergy conditions is the subject of the present issue of Clinical Reviews in Allergy and Immunology to provide peculiar perspectives on common and rare themes. First, allergy remains a major concern for physicians worldwide despite the limited developments over the past years, particularly for antigens such as mite or Alternaria alternata, and due to the increasing incidence of drug hypersensitivity. Second, the female predominance of autoimmune diseases such as systemic sclerosis is well recognized but enigmatic, and a unifying hypothesis remains elusive. Third, the management of conditions triggered by infectious agents as in Guillain-Barre syndrome or mixed cryoglobulinemia is challenging, and clinical guidelines are needed in the setting of infections and autoimmunity. Fourth, gamma-delta T cells represent major players in innate immunity and are the subject of extensive studies in autoimmune diseases to provide new therapeutic targets for disease prevention or modulation in the near future. Ultimately, we acknowledge the major developments in the broad fields of rheumatology and immunology and expect that microbiota definition, epigenetics studies, and microRNA analysis will provide new exciting avenues toward the understanding and treatment of chronic and acute inflammation. PMID:25395247

Dias, Carlos; Selmi, Carlo

2014-12-01

243

Imaging of sensorineural hearing loss: a pattern-based approach to diseases of the inner ear and cerebellopontine angle.  

PubMed

An overview is presented of the common and uncommon diseases of the inner ear and of the cochleovestibular nerve within the internal acoustic meatus and cerebellopontine angle cistern causing sensorineural deafness.An imaging-pattern-based approach is used to help detect disease and narrow the differential diagnosis. Main Messages • The most common soft tissue mass lesions in the cerebellopontine angle are schwannoma and meningioma. • Contrast-enhanced MRI may reveal clinically unsuspected inflammatory, auto-immune or tumoural disease. • Hearing loss may be caused by infection, inflammation or, rarely, perineural tumour spread along the cochleovestibular nerve. • Labyrinthitis may lead to rapidly progressive ossification of the labyrinth. PMID:22696040

Verbist, Berit M

2012-04-01

244

Lyme Disease  

PubMed Central

Synopsis Lyme disease, caused by spirochete Borrelia burgdorferi, is the most common vector-borne disease in the United States. The clinical presentation varies depending on the stage of the illness: early disease includes erthyma migrans, early disseminated disease includes multiple erythema migrans, meningitis, cranial nerve palsies and carditis; late disease is primarily arthritis. The symptoms and signs of infection resolve in the vast majority of patients after appropriate treatment with antimicrobials for from 2-4 weeks. Serologic testing should be used judiciously as it often results in misdiagnosis when performed on blood from patients with a low prior probability of disease and those with non-specific symptoms such as fatigue or arthralgia without signs of infection. PMID:20513553

Murray, Thomas S.; Shapiro, Eugene D.

2013-01-01

245

Borna disease.  

PubMed Central

Borna disease virus, a newly classified nonsegmented negative-strand RNA virus with international distribution, infects a broad range of warm-blooded animals from birds to primates. Infection causes movement and behavioral disturbances reminiscent of some neuropsychiatric syndromes. The virus has not been clearly linked to any human disease; however, an association between infection with the virus and selected neuropsychiatric disorders has been suggested. We reviewed recent advances in Borna disease virus research, focusing on evidence of infection in humans. PMID:9204293

Hatalski, C. G.; Lewis, A. J.; Lipkin, W. I.

1997-01-01

246

Kawasaki disease  

Microsoft Academic Search

Opinion statement  Kawasaki disease is an acute vasculitis of childhood, complicated by coronary artery aneurysms in up to 25% of affected children.\\u000a High-dose intravenous immunoglobulin (IVIG) administered in the acute phase of Kawasaki disease leads to a fivefold reduction\\u000a in the prevalence of coronary aneurysms. When fever persists, a second IVIG infusion should be administered. Rescue therapies\\u000a for IVIG-resistant Kawasaki disease

Jane W. Newburger; David R. Fulton

2007-01-01

247

Gaucher disease  

MedlinePLUS

Symptoms vary, but may include: Bone pain and fractures Cognitive impairment Easy bruising Enlarged spleen ( splenomegaly ) Enlarged liver ( hepatomegaly ) Fatigue Heart valve problems Lung disease Seizures Severe swelling ( ...

248

Menkes Disease  

MedlinePLUS

... Publications Menkes Disease: Overview Skip sharing on social media links Share this: Page Content Menkes disease is a genetic disorder that affects how copper moves through the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate; and deterioration ...

249

Alzheimer's Disease  

MedlinePLUS

... different medicines your doctor may prescribe to treat Alzheimer’s disease symptoms are listed below. It’s important to remember that ... treatments? Drugs don’t always help relieve the symptoms of Alzheimer’s disease. Non-drug treatments for a person who has ...

250

ALZHEIMER DISEASE  

PubMed Central

A recent study has used whole-exome sequencing, an ‘extreme trait’ design and imaging genetics to identify coding variants associated with hippocampal volume loss in Alzheimer disease. The research highlights the utility of next-generation sequencing and association studies involving quantitative traits for discovery of disease-related variants in neurodegeneration. PMID:23857046

Apostolova, Liana G.

2014-01-01

251

Disease proteomics  

Microsoft Academic Search

The sequencing of the human genome and that of numerous pathogens has opened the door for proteomics by providing a sequence-based framework for mining proteomes. As a result, there is intense interest in applying proteomics to foster a better understanding of disease processes, develop new biomarkers for diagnosis and early detection of disease, and accelerate drug development. This interest creates

Sam Hanash

2003-01-01

252

Fabry's Disease  

MedlinePLUS

... system. Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease. Since the gene that is altered is ... eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased ...

253

Chagas disease  

MedlinePLUS

... immigration, the disease also affects people in the United States. Risk factors for Chagas disease include: Living in a hut where reduvid bugs live in the walls Living in Central or South America Poverty Receiving a blood transfusion from a person who ...

254

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases  

PubMed Central

Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

Kingsmore, Stephen

2012-01-01

255

Secondary causes of nonalcoholic fatty liver disease  

PubMed Central

Nonalcoholic fatty liver disease (NAFLD) is becoming the most common cause of chronic liver disease in the developing world, found in 17-30% of the population in Western countries and 2-4% worldwide. Defined as the accumulation of fatty acid content greater than 5% of liver weight, NAFLD is a spectrum of disease ranging from simple steatosis to nonalcoholic steatohepatitis. The pathophysiology of NAFLD involves increased de novo synthesis of fatty acids in hepatocytes, the retention of lipids due to impaired hepatocyte apolipoprotein secretion or beta-oxidation. The well-known primary causes of NAFLD are obesity, type II diabetes, dyslipidemia, and insulin resistance. However, other less common conditions can cause a similar clinical and histologic picture, and should be considered in patients who present with NAFLD but do not have traditional risk factors. In this review, we discuss uncommon but important causes of NAFLD, including inborn errors of metabolism, iatrogenic causes, viral hepatitis, and nutritional disorders to provide practicing clinicians with an understanding of the less well recognized causes of NAFLD. PMID:22570680

Kneeman, Jacob M.; Misdraji, Joseph

2012-01-01

256

Neuronal Hypertrophy in Asymptomatic Alzheimer Disease  

PubMed Central

The pathologic changes of Alzheimer disease (AD) evolve very gradually over decades before the disease becomes clinically manifest. Thus, it is not uncommon to find substantial numbers of A? plaques and neurofibrillary tangles in autopsy brains of older subjects with documented normal cognition, a state that we define as asymptomatic AD (ASYMAD). The goal of this study is to understand the morphometric substrate of ASYMAD subjects compared with mild cognitive impairment and definite AD cases. We used designed-based stereology to measure the volumes of neuronal cell bodies, nuclei, and nucleoli in 4 cerebral regions: anterior cingulate gyrus, posterior cingulate gyrus, primary visual cortex, and CA1 of hippocampus. We examined and compared autopsy brains from 4 groups (n = 15 each) of participants in the Baltimore Longitudinal Study of Aging: ASYMAD, mild cognitive impairment, AD, and age-matched controls. We found significant hypertrophy of the neuronal cell bodies, nuclei, and nucleoli of CA1 of hippocampus and anterior cingulate gyrus neurons in ASYMAD subjects compared with control and mild cognitive impairment cases. In the posterior cingulate gyrus and primary visual cortex, the hypertrophy was limited to the nuclei and nucleoli. The hypertrophy of cortical neurons and their nuclei and nucleoli in ASYMAD may represent an early reaction to the presence of neurotoxic A? or tau, or a compensatory mechanism that prevents the progression of the disease into dementia. PMID:18520776

Iacono, Diego; O’Brien, Richard; Resnick, Susan M.; Zonderman, Alan B.; Pletnikova, Olga; Rudow, Gay; An, Yang; West, Mark J.; Crain, Barbara; Troncoso, Juan C.

2008-01-01

257

Thoracic irradiation in Hodgkin's disease: Disease control and long-term complications  

SciTech Connect

A total of 590 patients with Stage IA-IIIB Hodgkin's disease received mantle irradiation at the Joint Center for Radiation Therapy between April 1969 and December 1984 as part of their initial treatment. Recurrence patterns as well as pulmonary, cardiac and thyroid complications were analyzed. Pulmonary recurrence was more frequently seen in patients with large mediastinal adenopathy (LMA); 11% of patients with LMA recurred in the lung in contrast to 3.1% with small or no mediastinal disease, p = 0.003. Hilar involvement, when corrected for size of mediastinal involvement, was not predictive of lung relapse. Patients with LMA also had a high rate of nodal relapse above the diaphragm (40%) following radiation therapy (RT) alone as compared to similarly treated patients with small or no mediastinal adenopathy (6.5%), p less than 0.0001. This risk of nodal recurrence was greatly reduced (4.7%) for LMA patients receiving combined radiation therapy and chemotherapy (CMT), p less than 0.0001. Sixty-seven patients (11%) with hilar or large mediastinal involvement received prophylactic, low dose, whole lung irradiation. No decrease in the frequency of lung recurrence was seen with the use of whole lung irradiation. Radiation pneumonitis was seen in 3% of patients receiving radiation therapy alone. In contrast, the use of whole lung irradiation was associated with a 15% risk of pneumonitis, p = 0.006. The risk of pneumonitis was also significantly increased with the use of chemotherapy (11%), p = 0.0001. Cardiac complications were uncommon with pericarditis being the most common complication (2.2%). Thyroid dysfunction was seen in 25% of patients and appeared to be age-related. These data suggest that the long-term complications of mantle irradiation are uncommon with the use of modern radiotherapeutic techniques.

Tarbell, N.J.; Thompson, L.; Mauch, P. (Harvard Medical School, Boston, MA (USA))

1990-02-01

258

Inflammatory Bowel Disease in Children of Middle Eastern Descent  

PubMed Central

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. PMID:24987422

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

2014-01-01

259

Celiac disease  

Microsoft Academic Search

Opinion statement  \\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Individuals with celiac disease present with a wide array of symptoms and signs. Celiac disease can result in substantial\\u000a injury to the small intestine, deleterious effects on other organ systems, and an overall doubling of mortality. The role\\u000a of the gastroenterologist is primarily to make the diagnosis and then to ensure that patients with celiac disease receive

Ahmad S. Abdulkarim; Joseph A. Murray

2002-01-01

260

Gaucher's disease  

PubMed Central

Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream. PMID:21897894

Bohra, Vijay; Nair, Velu

2011-01-01

261

Neuroimaging Diagnosis and the Collateral Circulation in Moyamoya Disease  

PubMed Central

Moyamoya disease (MMD) is an uncommon cerebrovascular disease that is characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, which is accompanied by the development of dilated, fragile collateral vessels at the base of the brain. This review will present different neuroimaging modalities for the diagnosis of MMD. Importantly, we will discuss the role of hyperintense vessels on fluid-attenuated inversion recovery images and their contribution to the evaluation of collateral patterns in MMD patients. Additionally, this review will summarize these common collateral patterns of MMD assessed by conventional cerebral angiography, and the associations of these angiographic collateral patterns with cerebrovascular lesions, including ischemia and hemorrhage will also be reviewed.

Liu, Wenhua; Xu, Gelin; Liu, Xinfeng

2013-01-01

262

Stargardt Disease  

MedlinePLUS

... and Other Retinal Diseases: Talk to the Expert Videos View All VISIONS 2013 Attendee Videos Seeing Tomorrow ... CALENDAR "); jQuery("#block-views-videos-block h2").html(" VIDEOS "); jQuery("#block-block-19 h2").html(" OUR BLOG - ...

263

Alzheimer Disease  

MedlinePLUS

... the person medicine for other problems, such as depression (sad feelings that last a long time). Unfortunately the medicines that the doctors have can't cure Alzheimer disease; they just help slow down the ...

264

Celiac Disease  

MedlinePLUS

... evaluating drug treatments for refractory celiac disease. The Gluten-free Diet A gluten-free diet means not ... gluten free” on product labels. [ Top ] The Gluten-free Diet: Some Examples In 2006, the American ...

265

Celiac Disease  

MedlinePLUS

... problems for people with celiac disease. What Is Gluten? Gluten is the common term for a group ... ingredients) yogurts with wheat starch Back Continue Finding Gluten-Free Foods and Ingredients Most grocery stores carry ...

266

Behcet's Disease  

MedlinePLUS

... rash is sometimes called “folliculitis”. Skin lesions called erythema nodosum: red, tender nodules that usually occur on ... sometimes on the face, neck, or arms. Unlike erythema nodosum associated with other diseases (which heal without ...

267

Peyronie's Disease  

MedlinePLUS

... likely to develop Peyronie’s disease. Connective Tissue and Autoimmune Disorders Men who have certain connective tissue and autoimmune disorders may have a higher chance of developing Peyronie’s ...

268

Diarrhoeal Disease  

MedlinePLUS

... be prevented through safe drinking-water and adequate sanitation and hygiene. Globally, there are nearly 1.7 ... diarrhoea, including safe drinking-water, use of improved sanitation and hand washing with soap can reduce disease ...

269

Gaucher Disease  

MedlinePLUS

... common of the inherited metabolic disorder known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, ... research to find ways to treat and prevent lipid storage disorders. This research includes clinical studies by ...

270

Crohn disease  

PubMed Central

Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.

2011-01-01

271

Celiac Disease  

Microsoft Academic Search

Celiac disease is induced by the ingestion of gluten, which is derived from wheat, barley, and rye. The gluten protein is enriched in glutamine and proline and is poor- ly digested in the human upper gastrointestinal tract. The term \\

Peter H. R. Green; Christophe Cellier

2007-01-01

272

Leigh's Disease  

MedlinePLUS

... This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an ...

273

Pompe Disease  

MedlinePLUS

... affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the ...

274

Diverticular Disease  

MedlinePLUS

... yoo-ler) disease affects the lining of your large intestine. It is caused by small pouches (called diverticula) ... usually form in the last part of the large intestine (called the colon). The most common types of ...

275

Vascular Diseases  

MedlinePLUS

... affects the heart and blood vessels, such as diabetes or high cholesterol Smoking Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.

276

Alexander Disease  

MedlinePLUS

... progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal ...

277

Tickborne Diseases  

MedlinePLUS

... the early 1970s, has since spread to every state except Hawaii. One of the newest tickborne diseases to be identified in the United States is called Southern tick-associated rash illness (STARI). ...

278

Buerger's Disease  

MedlinePLUS

... Disease often include claudication (pain induced by insufficient blood flow during exercise) in the feet and/or hands, ... the affected regions. An angiogram demonstrating lack of blood flow to vessels of the hand ( figure below ). This ...

279

Graves' Disease  

MedlinePLUS

... Graves' disease can cause the following symptoms: Nervousness Insomnia Emotional swings Sweating Hand tremor Palpitations Unexplained weight ... medication such as propanolol (Inderal). For anxiety and insomnia, your doctor may prescribe diazepam (Valium), lorazepam (Ativan) ...

280

Graves disease  

MedlinePLUS

... is called hyperthyroidism. (An underactive thyroid leads to hypothyroidism .) Graves disease is the most common cause of ... radioactive iodine usually will cause an underactive thyroid (hypothyroidism). Without getting the correct dosage of thyroid hormone ...

281

Crohn's Disease  

MedlinePLUS

... the GI tract, called inflammatory bowel disease (IBD). Ulcerative colitis and microscopic colitis are the other common IBDs. Read more in Ulcerative Colitis and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ...

282

Parkinson's Disease  

MedlinePLUS

... cells make and use a brain chemical called dopamine (say: DOH-puh-meen) to send messages to ... coordinate body movements. When someone has Parkinson's disease, dopamine levels are low. So, the body doesn't ...

283

Parkinson's disease  

MedlinePLUS

Nerve cells use a brain chemical called dopamine to help control muscle movement. With Parkinson's disease, the brains cells that make dopamine slowly die. Without dopamine, the cells that control movement ...

284

Pneumococcal Disease  

MedlinePLUS

... browser settings and turn JavaScript on. Read more information on enabling JavaScript. Pneumococcal Disease Skip Content Marketing Share this: Main Content Area Streptococcus Pneumoniae Streptococcus ...

285

Chronic Diseases  

Microsoft Academic Search

Although diabetes mellitus, cardiovascular disease, and human immunodeficiency virus infection are three separate entities,\\u000a each has causal and non-causal risk factors that are common in the stage 5 chronic kidney disease population. The medical\\u000a nutrition therapies are similar, which emphasize adequate protein and energy intakes, fluid control, and possibly carbohydrate\\u000a and fat modifications. Each patient requires an individualized evaluation, taking

Sharon R. Schatz

286

Lyme Disease  

PubMed Central

Lyme borreliosis is an infectious disease caused by the tick-transmitted spirochete Borrelia burgdorferi. To date, the only known endemic focus of Lyme disease in Canada is Long Point, Ont. A national case definition for surveillance purposes, consensus statement regarding laboratory diagnosis, and treatment guidelines have recently been developed in an attempt to standardize the approach to surveillance, diagnosis, and management of Lyme borreliosis in Canada. PMID:21221399

Burdge, David R.; O'Hanlon, David

1992-01-01

287

Lentil Diseases  

Microsoft Academic Search

Fungal diseases of lentils are the most important biological constraint to productivity. Ascochyta lentis (ascochyta blight) and Fusarium oxysporum f. sp. lentis (fusarium wilt) are the major fungal pathogens that can cause severe losses in most lentil growing regions of the world.\\u000a Fungal diseases such as botrytis grey mould (Botrytis fabae and B. cinerea), rust (Uromyces viciae-fabae), stemphylium blight (Stemphylium

Paul Taylor; Kurt Lindbeck; Weidong Chen; Rebecca Ford

288

Coeliac Disease  

Microsoft Academic Search

Coeliac disease (c.d.) is an inflammatory disorder of the small intestine that affects > 0.5% of Western, Middle Eastern and North African populations. Disease manifestations range from asymptomatic to severe malabsorption, autoimmune disorders and (intestinal) lymphoma. A strict gluten-free diet is usually curative, but elderly patients can develop refractory c.d. or intestinal T cell lymphoma. c.d. shares immunological features with

Detlef Schuppan; Yvonne Junkler

2010-01-01

289

Celiac Disease  

Microsoft Academic Search

Celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is a chronic disorder that is readily recognized\\u000a when it presents in its classical form with diarrhea, bloating, flatulence, weight loss and evidence of malabsorption. However,\\u000a non-gastrointestinal GI and non-specific GI manifestations are currently the more common presentations of this disease. Withdrawal\\u000a of gluten from the diet results in a

Sheila E. Crowe

290

Ménière Disease  

Microsoft Academic Search

A computerized PubMed search of MEDLINE 1966-May 2005 was performed. The terms “Meniere disease” and “gentamicin” were exploded,\\u000a and the resulting articles were combined. The terms “intratympanic” and “transtympanic” were entered as text words as the\\u000a search term “intratympanic OR transtympanic,” and the results were combined with the Ménière disease\\/gentamicin articles.\\u000a The resulting 136 articles were limited to the English

Iee-Ching Wu Anderson; John P. Carey; Walter Kutz; William H. Slattery

291

[Allergic diseases as environmental diseases].  

PubMed

Respiratory allergic diseases belong to atopic diseases. Their prevalence has steadily increased over the past decades. Recently, a plateau effect seems to occur. This increased prevalence should be related to environmental changes. However, "classical" aerocontaminants, such as aero-allergens and air pollutants cannot account for such a drastic increase in prevalence. Change in diet can account for biological changes but the relation to allergic diseases seems questionable. Use of contraceptive pills and caesarean section had been put forward as hypotheses but their implication seems unlikely. Among the classical risk factors, 2 only should remain in the primary prevention of atopic diseases, namely, prolonged breast feeding and avoiding passive smoking. The major input of epidemiological research over the past decades lies in the "hygienic hypothesis" and the protective effect of early exposure to farm animals and raw cow milk. Progress to come in this field should lie in a better knowledge of in utero exposure on the foetal immune system. PMID:17717941

Charpin, Denis

2007-06-30

292

Fabry's disease.  

PubMed

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in ?-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions. In addition, patients experience pain, gastrointestinal disturbance, transient ischemic attacks and strokes. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic. This review covers all basic aspects of the disease such as epidemiology, pathophysiology, clinical presentation by systems, diagnosis, management, prevention, and repercussions on quality of life. With the development of enzyme replacement therapy in the past few years, early initiation of treatment was found to be key for reduction of disease burden in major affected organs with improvement in neuropathic pain, decreased cardiac mass and stabilization of renal function, gastrointestinal symptoms, and hearing. This review aims to raise the awareness of the signs and symptoms of Fabry's disease as well as to provide guidelines for the diagnosis and treatment. PMID:25106696

El-Abassi, Rima; Singhal, Divya; England, John D

2014-09-15

293

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  

Microsoft Academic Search

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

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

2010-01-01

294

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.  

PubMed

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to 'growing pains' and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test. PMID:25054987

Scalco, Renata Siciliani; Chatfield, Sherryl; Godfrey, Richard; Pattni, Jatin; Ellerton, Charlotte; Beggs, Andrea; Brady, Stefen; Wakelin, Andrew; Holton, Janice L; Quinlivan, Ros

2014-07-01

295

Adult onset Still's disease: clinical experience with 18 patients over 15 years in northern India.  

PubMed Central

Over a 15 year period 18 patients (eight men, 10 women), 16-50 years old, were diagnosed as having adult onset Still's disease. Fever and arthralgia were always present but prominent lymphadenopathy was uncommon and the serosa were rarely affected. The typical rash of this disease was observed in nine patients. Several complications, including deforming arthritis, amyloidosis, granulomatous hepatitis, uveitis, scleritis, cutaneous vasculitis, and cardiomyopathy, were observed during follow up. Two patients were affected by a nosocomial infection during immunosuppressive treatment for uncontrolled disease. There were no characteristic features at necropsy. Ten patients had a monocyclic course that responded well to aspirin and indomethacin, whereas eight had a polycyclic pattern which invariably required treatment with corticosteroids. Serious complications developed exclusively in the latter group. This group of patients requires early, intensive disease modifying treatment. PMID:1586255

Bambery, P; Thomas, R J; Malhotra, H S; Kaur, U; Bhusnurmath, S R; Deodhar, S D

1992-01-01

296

Celiac disease.  

PubMed

On the basis of strong evidence, gastrointestinal symptoms and failure to thrive are classic presentations of celiac disease, but atypical, nongastrointestinal symptoms are also extremely common, particularly in the older child and adolescent. (3)(4)(8). On the basis of some research evidence and consensus, guidelines recommend celiac testing in symptomatic children with typical and atypical symptoms and consideration of testing in those with associated conditions and first-degree relatives of those with celiac disease. (3)(9). On the basis of strong research evidence, measurement of tTG IgA and total serum IgA level has been reported to be the most cost-effective and accurate means of serologic testing for celiac disease and is the test of choice unless the child is younger than 2 years or IgA deficient. (9). On the basis of strong research evidence, children with elevated titers of celiac antibodies or strong clinical suspicion for celiac disease should be referred to a gastroenterologist for upper endoscopy and biopsy. Until this procedure is performed, the child should continue on a diet with ingestion of gluten. (3)(9). On the basis of strong research evidence, all those with a confirmed diagnosis of celiac disease should follow a strict gluten-free diet for life, with avoidance of all foods that contain wheat, barley, and rye ingredients. (3)(4). Referral to a health care professional with specialized knowledge of celiac disease and the gluten-free diet is critical because of the numerous ways, often hidden, in which gluten may be present in the diet and environment. PMID:25274968

Ediger, Tracy R; Hill, Ivor D

2014-10-01

297

Hansen's disease: a vanishing disease?  

PubMed

The introduction, implementation, successes and failures of multidrug therapy (MDT) in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants) to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered. PMID:23283447

Talhari, Sinésio; Grossi, Maria Aparecida de Faria; Oliveira, Maria Leide W D R de; Gontijo, Bernardo; Talhari, Carolina; Penna, Gerson Oliveira

2012-12-01

298

Menetrier's Disease.  

PubMed

Menetrier's disease is a rare acquired disorder of the fundus and body of the stomach (ie, oxyntic mucosa) characterized by giant hyperplastic folds, protein-losing gastropathy, hypoalbuminemia, increased mucus secretion, and hypochlorhydria. Recent research implicates overproduction of transforming growth factor-alpha with increased signaling of the epidermal growth factor receptor (EGFR) in the pathogenesis. Activation of the EGFR, a transmembrane receptor with tyrosine kinase activity, triggers a cascade of downstream, intracellular signaling pathways that leads to expansion of the proliferative compartment within the isthmus of the oxyntic gland. The diagnosis of Menetrier's disease is based upon characteristic histologic changes, including foveolar hyperplasia, cystic dilation of pits, and reduced numbers of parietal and chief cells. The best treatment for Menetrier's disease is not clear. It seems reasonable to test and treat for cytomegalovirus and Helicobacter pylori, as 1) in children, evidence exists that the disease may be due to cytomegalovirus infection in up to one third of patients; and 2) in adults, there are anecdotal reports of resolution upon H. pylori eradication. More recently, therapies targeting increased signaling of the EGFR have shown promise, including somatostatin analogues and monoclonal antibodies (eg, cetuximab) directed against the EGFR. In refractory cases, gastrectomy is curative. PMID:18321437

Toubia, Nagib; Schubert, Mitchell L

2008-04-01

299

Dent's disease  

Microsoft Academic Search

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

Olivier Devuyst; Rajesh V. Thakker

2010-01-01

300

Parkinson's Disease  

MedlinePLUS

... the arms, legs and trunk Slowness of movement Poor balance and coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking. There ...

301

Celiac disease.  

PubMed

Celiac disease, with a prevalence around 1% of the general population, is the most common genetically-induced food intolerance in the world. Triggered by the ingestion of gluten in genetically predisposed individuals, this enteropathy may appear at any age, and is characterized by a wide variety of clinical signs and symptoms. Among them, gastrointestinal presentations include chronic diarrhea, abdominal pain, weight loss or failure to thrive in children; but extra-intestinal manifestations are also common, and actually appear to be on the rise. They include a large variety of ailments, such as dermatitis Herpetiformis, anemia, short stature, osteoporosis, arthritis, neurologic problems, unexplained elevation of transaminases, and even female infertility. For the clinician interested in oral diseases, celiac disease can lead to delayed tooth eruption, dental enamel hypoplasia, recurrent oral aphthae. Diagnosing celiac disease requires therefore a high degree of suspicion followed by a very sensitive screening test: serum levels of the autoantibody anti-tissue transglutaminase. A positive subject will then be confirmed by an intestinal biopsy, and will then be put on a strict gluten-free diet, that in most cases will bring a marked improvement of symptoms. Newer forms of treatment which in the future will probably be available to the non-responsive patients are currently being actively pursued. PMID:23496382

Rivera, E; Assiri, A; Guandalini, S

2013-10-01

302

Castleman disease.  

PubMed

Castleman and Towne described a disease presenting as a mediastinal mass resembling thymoma. It is also known as "giant lymph node hyperplasia", "lymph node hamartoma", "angiofollicular mediastinal lymph node hyperplasia", and "angiomatous lymphoid hyperplasia". The pathogenesis is unknown, but the bulk of evidence points toward faulty immune regulation, resulting in excessive B-lymphocyte and plasma-cell proliferation in lymphatic tissue. In addition to the mediastinal presentation, extrathoracic involvement in the neck, axilla, mesentery, pelvis, pancreas, adrenal gland, and retroperitoneum also have been described. There are 2 major pathologic variations of Castleman disease: (1) hyaline-vascular variant, the most frequent, characterized by small hyaline-vascular follicles and capillary proliferation; and (2) the plasma-cell variant, in which large lymphoid follicles are separated by sheets of plasma cells. The hyaline-vascular cases usually are largely asymptomatic, whereas the less common plasma-cell variant may present with fever, anemia, weight loss, and night sweats, along with polyclonal hypergamma-globulinemia. Castleman disease is a rare lymphoproliferative disorders. Few cases have been described world widely. In this article we reviewed the classification, pathogenesis, pathology, radiological features and up to date treatment with special emphasis on the role of viral stimulation, recent therapeutic modalities and the HIV-associated disease. PMID:23071471

Saeed-Abdul-Rahman, Ibrahiem; Al-Amri, Ali M

2012-09-01

303

Smelling Diseases  

NSDL National Science Digital Library

We all use our noses to make quick judgments from time to time -- whether it's checking to see if the milk's still good, or if a shirt needs to go in the wash. Now, doctors are developing a kind of sniff test to screen for diseases. Find out more in this Science Update.

Science Update;

2004-06-14

304

Omenn's disease.  

PubMed Central

The importance of accurate pathological diagnosis is emphasised in the case of a newborn infant who presented with alopecia, a generalised erythrodermatous skin eruption, and hepatosplenomegaly. She subsequently developed generalised lymphadenopathy and recurrent septicaemia and died aged 2 months. The histological findings of widespread lymphocytic, histiocytic, and eosinophilic tissue infiltration, associated with thymic hypoplasia, were consistent with autosomal recessive Omenn's disease. PMID:1835343

Dyke, M P; Marlow, N; Berry, P J

1991-01-01

305

Development of non-Hodgkin's lymphoma following therapy for Hodgkin's disease  

SciTech Connect

Three patients developed non-Hodgkin's lymphoma (NHL) 3 to 6 years after treatment for Hodgkin's disease (HD). In no instance was there evidence of recurrence of HD following the initial chemotherapy or radiotherapy. None of these patients had received both radiation therapy and chemotherapy. All patients responded well to conventional chemotherapy for NHL and are alive at 23 +, 37 +, and 65+ months after that secondary diagnosis. This report, when coupled with at least ten other such reported patients, suggests that NHL may be a relatively uncommon but significant complication of therapy for HD and must be distinguished for recurrence of HD.

Kim, H.D.; Bedetti, C.D.; Boggs, D.R.

1980-12-15

306

Fabry disease  

PubMed Central

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal ?-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual ?-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal ?-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked ?-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human ?-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs, nephroprotection (angiotensin converting enzyme inhibitors and angiotensin receptors blockers) and antiarrhythmic agents, whereas dialysis or renal transplantation are available for patients experiencing end-stage renal failure. With age, progressive damage to vital organ systems develops and at some point, organs may start to fail in functioning. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population. While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones. PMID:21092187

2010-01-01

307

A case of Crohn's disease involving the gallbladder.  

PubMed

Crohn's disease is well known to affect any part of the gastrointestinal tract including the oral cavity and anus. Various extraintestinal complications have been reported in Crohn's disease, but extraintestinal involvement characterized by granulomatous lesions is uncommon. Here, we have reported a case about the involvement of the gallbladder in Crohn's disease. A 33-year-old woman was diagnosed having panperitonitis due to intestinal perforation and cholecystitis. The patient was moved to the surgical service for an emergency operation. On the resected specimen, there was a broad longitudinal ulcer at the mesenteric side. The mucosa of the gallbladder was nodular and granular, and the wall was thickened. The surface epithelium of the gallbladder was partially eroded and pyloric gland metaplasia was observed focally. Rokitansky-Aschoff sinuses were also present. From the lamina propria to the subserosal layer, there were several well-formed epithelioid cell granulomas, which were the non-caseating sarcoidal type different from the foreign-body and xanthomatous granulomas. Periodic-acid Schiff and acid fast stains revealed no organism within the granulomas. Lymphoid aggregates were present throughout the gallbladder wall. Sections from the resected ileum showed typical features of the Crohn's disease. When cholecystectomy is performed in a patient with Crohn's disease, the possibility of gallbladder involvement should be carefully examined by histopathological tests. PMID:16521232

Andoh, Akira; Endo, Yoshihiro; Kushima, Ryoji; Hata, Kazunori; Tsujikawa, Tomoyuki; Sasaki, Masaya; Mekata, Eiji; Tani, Toru; Fujiyama, Yoshihide

2006-02-14

308

Primary nasopharyngeal Hodgkin's disease: case report and literature review  

PubMed Central

Introduction Primary Hodgkin's disease of the nasopharynx is a rare and uncommon event. It has a relatively favorable prognosis and represents less than 1% of all documented cases of Hodgkin's disease. Case presentation A 40-year-old Arabic man presented initially with bilateral nasal obstruction, which was then followed by a significant involvement of his bilateral cervical lymph nodes. His nasopharyngeal biopsy together with immunohistochemistry analysis showed negative expressions of CD15, CD20 and CD3, but positive expressions of CD30 and epithelial membrane antigen. This confirmed the diagnosis of nasopharyngeal Hodgkin's disease of a mixed cellularity subtype. The disease was at stage IIEA. Our patient received four cycles of chemotherapy, which yielded a 75% response. This was followed by irradiation of his Waldeyer's ring and supraclavicular lymph nodes. He remains in good local control after 30 months of follow-up. Conclusion The literature review and our case report discuss the optimal management of this rare and atypical localization of Hodgkin's disease, which should be differentiated from lymphoproliferations associated with Epstein-Barr virus and non-Hodgkin's lymphoma. PMID:20420699

2010-01-01

309

Coronary heart disease  

MedlinePLUS

Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... Coronary heart disease (CHD) is the leading cause of death in the United States for men and women. Coronary ...

310

Diabetic Heart Disease  

MedlinePLUS

... from the NHLBI on Twitter. What Is Diabetic Heart Disease? The term "diabetic heart disease" (DHD) refers ... Kidney Diseases' Introduction to Diabetes Web page. What Heart Diseases Are Involved in Diabetic Heart Disease? DHD ...

311

Pelvic Inflammatory Disease (PID)  

MedlinePLUS

... Pelvic Inflammatory Disease (PID) - CDC Fact Sheet Untreated sexually transmitted diseases (STDs) can cause pelvic inflammatory disease (PID), a ... plain language for individuals with general questions about sexually transmitted diseases. What is PID? Pelvic inflammatory disease is an ...

312

Hirschprung's disease.  

PubMed Central

Current evidence on the pathogenesis of Hirschprung's disease, then, favours the 'abnormal microenvironment' hypothesis wherein the developing and migrating normal neural crest cells confront a segmentally abnormal and hostile microenvironment in the colon. This hypothesis would account both for the congenital absence of ganglion cells in the wall of colon and also for the range of enteric neuronal abnormalities encountered including neuronal dysplasia, hypoganglionosis, and zonal aganglionosis. The abnormal constitution of the mesenchymal and basement membrane extracellular matrix in the affected segment of colon is presumably genetically determined and further understanding of the pathogenesis of this disorder will emerge as molecular geneticists characterise the specific genes and gene products associated with Hirschprung's disease. Advances in this field should permit gene probes to be developed to facilitate prenatal and postnatal diagnosis. PMID:8660047

Sullivan, P B

1996-01-01

313

Morgellons disease?  

PubMed

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. PMID:18318880

Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John

2008-01-01

314

Gaucher disease.  

PubMed

A 14 months old boy of consanguineous parent presented with hepatosplenomegaly with delayed mile stones of development. He is till unable to walk. He was moderately anemic. Moderately wasted and stunted. Neurological examination was normal except subnormal intelligence. This subnormal intelligence and delayed milestone possibly may be due to secondary effect of growth retardation. Musculo-skeletal system examination revealed no abnormality. Diagnosis was supported by typical bone involvement in X-ray film (Thin cortex in Limb bone) and Gaucher cell in the splenic aspiration. There are three sub-types Type I: Non neuropathic form. Type II: Acute neuropathic form. Type III: Chronic neuropathic form. However, some cases do not fit precisely into one of these categories. All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease type I. Treatment option for type I and III include medicine and enzyme replacement therapy, which is usually very effective. PMID:21804517

Ali, M A; Saleh, F M; Das, K; Latif, T

2011-07-01

315

Thyroid disease  

SciTech Connect

Presenting a multidisciplinary approach to the diagnosis and treatment of thyroid disease, this volume provides a comprehensive picture of current thyroid medicine and surgery. The book integrates the perspectives of the many disciplines that deal with the clinical manifestations of thyroid disorders. Adding to the clinical usefulness of the book is the state-of-the-art coverage of many recent developments in thyroidology, including the use of highly sensitive two-site TSH immunoradionetric measurements to diagnose thyroid activity; thyroglobulin assays in thyroid cancer and other diseases; new diagnostic applications of MRI and CT; treatment with radionuclides and chemotherapy; new developments in thyroid immunology, pathology, and management of hyperthyroidism; suppressive treatment with thyroid hormone; and management of Graves' ophthalmopathy. The book also covers all aspects of thyroid surgery, including surgical treatment of hyperthyroidism; papillary, follicular, and other carcinomas; thyroidectomy; and prevention and management of complications.

Falk, S.

1990-01-01

316

Kawasaki Disease  

Microsoft Academic Search

\\u000a Kawasaki disease (KD) is more common in Japanese population and those of Japanese descent. Incidence is higher in males than\\u000a females. Etiology of KD continues to be unclear, there is evidence supporting both genetic and environmental factors. Diagnosis\\u000a of KD is made when there is fever of at least 5 days duration, plus bilateral, nonpurulent conjunctivitis, polymorphous skin\\u000a rash, mucous

Rami Kharouf; Daniel E. Felten

317

Ledderhose Disease  

PubMed Central

Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. A 28-year-old Brazilian woman with a six-year history of painless bilateral plantar nodules is described in this article. PMID:20877526

Fausto de Souza, Dominique; Micaelo, Lilian; Cuzzi, Tullia

2010-01-01

318

Stargardt Disease  

Microsoft Academic Search

When the adenosine triphosphate (ATP)-binding cassette (ABC) transporter gene, ABCA4 (originally named ABCR), was cloned and characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (arSTGD or STGD1) (1) it seemed as if just another missing link was added to the extensive table of genetic determinants of rare monogenic retinal\\u000a dystrophies. Now, 9 yr later, the ABCA4

Rando Allikmets

319

Huntington's Disease  

Microsoft Academic Search

Huntington’s disease (HD) is a familial and rare inherited neurological disorder with a prevalence of 5–8 cases per 100,000\\u000a worldwide. This makes HD the most common inherited neurodegenerative disorder (Fahn, 2005). HD is passed from parent to child\\u000a in autosomal dominant fashion. Each child of an HD parent has a 50% chance of inheriting HD. Both sexes are affected equally.

Seymour Gendelman; Howard E. Gendelman; Tsuneya Ikezu

320

The epidemic of the 20(th) century: coronary heart disease.  

PubMed

Heart disease was an uncommon cause of death in the US at the beginning of the 20th century. By mid-century it had become the commonest cause. After peaking in the mid-1960s, the number of heart disease deaths began a marked decline that has persisted to the present. The increase in heart disease deaths from the early 20th century until the 1960s was due to an increase in the prevalence of coronary atherosclerosis with resultant coronary heart disease, as documented by autopsy studies. This increase was associated with an increase in smoking and dietary changes leading to an increase in serum cholesterol levels. In addition, the ability to diagnose acute myocardial infarction with the aid of the electrocardiogram increased the recognition of coronary heart disease before death. The substantial decrease in coronary heart disease deaths after the mid-1960s is best explained by the decreased incidence, and case fatality rate, of acute myocardial infarction and a decrease in out-of-hospital sudden coronary heart disease deaths. These decreases are very likely explained by a decrease in coronary atherosclerosis due to primary prevention, and a decrease in the progression of nonobstructive coronary atherosclerosis to obstructive coronary heart disease due to efforts of primary and secondary prevention. In addition, more effective treatment of patients hospitalized with acute myocardial infarction has led to a substantial decrease in deaths due to acute myocardial infarction. It is very likely that the 20th century was the only century in which heart disease was the most common cause of death in America. PMID:24811552

Dalen, James E; Alpert, Joseph S; Goldberg, Robert J; Weinstein, Ronald S

2014-09-01

321

Plant Disease Lesson: Lesion nematode disease  

NSDL National Science Digital Library

This plant disease lesson on Lesion nematode disease (caused by Pratylenchus) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.

Eric L. Davis (North Carolina State University;); An E. MacGuidwin (University of Wisconsin;)

2000-10-30

322

Plant Disease Lesson: Soybean cyst nematode disease  

NSDL National Science Digital Library

This plant disease lesson on Soybean cyst nematode disease (caused by Heterodera glycines) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.

Eric L. Davis (North Carolina State University;); Gregory L. Tylka (Iowa State University;)

2000-07-25

323

Plant Disease Lesson: Dutch elm disease  

NSDL National Science Digital Library

This plant disease lesson on Dutch elm disease (caused by the fungus Ophiostoma ulmi) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.

Cleora J. D'Arcy (University of Illinois;)

2000-07-21

324

Plant Disease Lesson: Rhizoctonia Diseases of Turfgrass  

NSDL National Science Digital Library

This plant disease lesson on Rhizoctonia diseases of turfgrass (caused by the fungi Rhizoctonia species) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.

Lane P. Tredway (University of Georgia, Athens;); Lee L. Burpee (University of Georgia, Griffin;)

2001-11-09

325

Castleman disease mimicked pancreatic carcinoma: report of two cases.  

PubMed

Castleman disease (CD) is an uncommon benign lymphoproliferative disorder, which usually presents as solitary or multiple masses in the mediastinum. Peripancreatic CD was rarely reported. Herein, we report two cases of unicentric peripancreatic CD from our center. A 43-year-old man and a 58-year-old woman were detected to have a pancreatic mass in the routine medical examinations. Both of them were asymptomatic. The computed tomography and ultrasonographic examination revealed a mild enhancing solitary mass at the pancreatic head/neck. No definite preoperative diagnosis was established and Whipple operations were originally planned. The intraoperative frozen section diagnosis of both patients revealed lymphoproliferation. Then the local excisions of mass were performed. Histological examination revealed features of CD of hyaline-vascular type. No recurrence was found during the follow-up period. CD should be included in the differential diagnosis of pancreatic tumors. Local excision is a suitable surgical choice. PMID:22824621

Guo, Hua; Shen, Yan; Wang, Wei-Lin; Zhang, Min; Li, Hong; Wu, Ying-Sheng; Yan, Sheng; Xu, Xiao; Wu, Jian; Zheng, Shu-Sen

2012-01-01

326

Clostridium difficile Infection and Inflammatory Bowel Disease: A Review  

PubMed Central

The incidence of Clostridium difficile infection (CDI) has significantly increased in the last decade in the United States adding to the health care burden of the country. Patients with inflammatory bowel disease (IBD) have a higher prevalence of CDI and worse outcomes. In the past, the traditional risk factors for CDI were exposure to antibiotics and hospitalizations in elderly people. Today, it is not uncommon to diagnose CDI in a pregnant women or young adult who has no risk factors. C. difficile can be detected at the initial presentation of IBD, during a relapse or in asymptomatic carriers. It is important to keep a high index of suspicion for CDI in IBD patients and initiate prompt treatment to minimize complications. We summarize here the changing epidemiology, pathogenesis, risk factors, clinical features, and treatment of CDI in IBD. PMID:21915178

Sinh, Preetika; Barrett, Terrence A.; Yun, Laura

2011-01-01

327

Rice Diseases.  

E-print Network

for different disease-causing organisms. Sclerotia of Rhizoctonia solani (the fungus that causes sheath blight) survive an average of 12 to 18 months in the soil. Kernel smut fungus spores (Neouossia horrida) can remain alive more than 10 years. As a result... chart (table 1) for specific recommendations. SOUTHERN BLIGHT (fungus - Sclerotium ro lIs ii) Southern blight can attack rice in the one- to three leaf stage and may kill large numbers of plants when weather is warm and moist. A white cottony mold...

Jones, Roger K.

1987-01-01

328

Angiolymphoid hyperplasia with eosinophilia of the eyelid and orbit: the Western cousin of Kimura's disease?  

PubMed

Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon disease most frequently occurring in the head and neck region. It occurs in all races. In spite of a clear distinction between ALHE and Kimura's disease on histological grounds for almost 20 years now, confusion and misdiagnosis still exist to date. Three Spanish patients presented to our institution over a 6 year period with mass lesions in the superior orbit, medial orbito-nasal wall and eyelid, respectively. All patients were of Caucasian extraction and were diagnosed with epithelioid haemangioma on histological tissue analysis. We report on the history and management of these patients which resulted in good functional and cosmetic outcome with no subsequent evidence of disease recurrence. PMID:23460400

Cunniffe, G; Alonso, T; Dinarès, C; Medina, F J; Medel, R

2014-02-01

329

FDG PET images in a patient with Erdheim-Chester disease.  

PubMed

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

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

2014-02-01

330

Role of toxoplasmosis in the aetiology of some cardiac diseases: an immunobiological investigation.  

PubMed Central

The Sabin-Feldman dye test was used to show the presence of toxoplasma antibodies in 183 patients with cardiac disease, as well as in two control groups (A and B), comprising 183 and 2186 healthy subjects, respectively. Toxoplasma specific antibodies were found in 157 (86%) patients with cardiac disease, 39 (21%) of whom had high titres. The prevalence of toxoplasma antibodies was considerably lower than that of control groups: 94 (51%) in group A and 1276 (58%) in group B. High titres were present in 8 (4%) and 83 (4%), respectively. Immunofluorescence antibody testing showed IgM antibodies in five patients, three of whom had the organism itself recovered from the blood or lymph nodes. Chronic or latent toxoplasma infection as a cause of cardiac disease is not as uncommon as is generally thought. PMID:3950043

Sibalic, D; Djurkovic-Djakovic, O

1986-01-01

331

Disease modification in Parkinson's disease.  

PubMed

Parkinson's disease (PD) is an age-related, progressive, multisystem neurodegenerative disorder resulting in significant morbidity and mortality, as well as a growing social and financial burden in an aging population. The hallmark of PD is loss of dopaminergic neurons of the substantia nigra pars compacta, leading to bradykinesia, rigidity and tremor. Current pharmacological treatment is therefore centred upon dopamine replacement to alleviate symptoms. However, two major problems complicate this approach: (i) motor symptoms continue to progress, requiring increasing doses of medication, which result in both short-term adverse effects and intermediate- to long-term motor complications; (ii) dopamine replacement does little to treat non-dopaminergic motor and non-motor symptoms, which are an important source of morbidity, including dementia, sleep disturbances, depression, orthostatic hypotension, and postural instability leading to falls. It is critical, therefore, to develop a broader and more fundamental therapeutic approach to PD, and major research efforts have focused upon developing neuroprotective interventions. Despite many encouraging preclinical data suggesting the possibility of addressing the underlying pathophysiology by slowing cell loss, efforts to translate this into the clinical realm have largely proved disappointing in the past. Barriers to finding neuroprotective or disease-modifying drugs in PD include a lack of validated biomarkers of progression, which hampers clinical trial design and interpretation; difficulties separating symptomatic and neuroprotective effects of candidate neuroprotective therapies; and possibly fundamental flaws in some of the basic preclinical models and testing. However, three recent clinical trials have used a novel delayed-start design in an attempt to overcome some of these roadblocks. While not examining markers of cell loss and function, which would determine neuroprotective effects, this trial design pragmatically tests whether earlier versus later intervention is beneficial. If positive (i.e. if an earlier intervention proves more effective), this demonstrates disease modification, which could result from neuroprotection or from other mechanisms. This strategy therefore provides a first step towards supporting neuroprotection in PD. Of the three delayed-start design clinical trials, two have investigated early versus later start of rasagiline, a specific irreversible monoamine oxidase B inhibitor. Each trial has supported, although not proven, disease-modifying effects. A third delayed-start-design clinical trial examining potential disease-modifying effects of pramipexole has unfortunately reportedly been negative according to preliminary presentations. The suggestion that rasagiline is disease modifying is made all the more compelling by in vitro and PD animal-model studies in which rasagiline was shown to have neuroprotective effects. In this review, we examine efforts to demonstrate neuroprotection in PD to date, describe ongoing neuroprotection trials, and critically discuss the results of the most recent delayed-start clinical trials that test possible disease-modifying activities of rasagiline and pramipexole in PD. PMID:21812497

Henchcliffe, Claire; Severt, W Lawrence

2011-08-01

332

Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology  

PubMed Central

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, STGD-FFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt’s disease. PMID:24653822

El Matri, Leila; Ouechtati, Farah; Chebil, Ahmed; Largueche, Leila; Abdelhak, Sonia

2013-01-01

333

Alzheimer's disease.  

PubMed

Alzheimer's disease (AD) is a chronic neurodegenerative disease with well-defined pathophysiological mechanisms, mostly affecting medial temporal lobe and associative neocortical structures. Neuritic plaques and neurofibrillary tangles represent the pathological hallmarks of AD, and are respectively related to the accumulation of the amyloid-beta peptide (A?) in brain tissues, and to cytoskeletal changes that arise from the hyperphosphorylation of microtubule-associated Tau protein in neurons. According to the amyloid hypothesis of AD, the overproduction of A? is a consequence of the disruption of homeostatic processes that regulate the proteolytic cleavage of the amyloid precursor protein (APP). Genetic, age-related and environmental factors contribute to a metabolic shift favoring the amyloidogenic processing of APP in detriment of the physiological, secretory pathway. A? peptides are generated by the successive cleavage of APP by beta-secretase (BACE-1) and gamma-secretase, which has been recently characterized as part of the presenilin complex. Among several beta-amyloid isoforms that bear subtle differences depending on the number of C-terminal amino acids, A? (1-42) plays a pivotal role in the pathogenesis of AD. The neurotoxic potential of the A? peptide results from its biochemical properties that favor aggregation into insoluble oligomers and protofibrils. These further originate fibrillary A? species that accumulate into senile and neuritic plaques. These processes, along with a reduction of A? clearance from the brain, leads to the extracellular accumulation of A?, and the subsequent activation of neurotoxic cascades that ultimately lead to cytoskeletal changes, neuronal dysfunction and cellular death. Intracerebral amyloidosis develops in AD patients in an age-dependent manner, but recent evidence indicate that it may be observed in some subjects as early as in the third or fourth decades of life, with increasing magnitude in late middle age, and highest estimates in old age. According to recent propositions, three clinical phases of Alzheimer's disease may be defined: (i) pre-symptomatic (or pre-clinical) AD, which may last for several years or decades until the overproduction and accumulation of A? in the brain reaches a critical level that triggers the amyloid cascade; (ii) pre-dementia phase of AD (compatible with the definition of progressive, amnestic mild cognitive impairment), in which early-stage pathology is present, ranging from mild neuronal dystrophy to early-stage Braak pathology, and may last for several years according to individual resilience and brain reserve; (iii) clinically defined dementia phase of AD, in which cognitive and functional impairment is severe enough to surmount the dementia threshold; at this stage there is significant accumulation of neuritic plaques and neurofibrillary tangles in affected brain areas, bearing relationship with the magnitude of global impairment. New technologies based on structural and functional neuroimaging, and on the biochemical analysis of cerebrospinal fluid may depict correlates of intracerebral amyloidosis in individuals with mild, pre-dementia symptoms. These methods are commonly referred to as AD-related biomarkers, and the combination of clinical and biological information yields good diagnostic accuracy to identify individuals at high risk of AD. In other words, the characterization of pathogenic A? by means of biochemical analysis of biological fluids or by molecular neuroimaging are presented as diagnostic tools to help identify AD cases at the earliest stages of the disease process. The relevance of this early diagnosis of AD relies on the hypothesis that pharmacological interventions with disease-modifying compounds are more likely to produce clinically relevant benefits if started early enough in the continuum towards dementia. Therapies targeting the modification of amyloid-related cascades may be viewed as promising strategies to attenuate or even to prevent dementia. Therefore, the cumulative knowledge on the pathogenesis of

De-Paula, Vanessa J; Radanovic, Marcia; Diniz, Breno S; Forlenza, Orestes V

2012-01-01

334

Mitochondrial disease  

Microsoft Academic Search

Opinion statement  \\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a •Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory\\u000a chain (RC), and fatty acid oxidation (FAO).\\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a •Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing. Therapeutic approaches consist\\u000a of electron acceptors, enzyme activators, vitamins, coenzymes, free-radical scavengers, dietary measures, and supportive therapy.\\u000a These treatment assumptions

Roser Pons; Darryl C. De Vivo

2001-01-01

335

Autoinflammatory diseases.  

PubMed

Autoinflammatory diseases (AIDs) are illnesses caused by primary dysfunction of the innate immune system. Proteins that are mutated in AIDs mediate the regulation of NFkappaB activation, cell apoptosis, and IL-1beta secretion through cross-regulated and sometimes common signaling pathways. AIDs include a broad number of monogenic [e.g., familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD), tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS)] and multifactorial (e.g., Behçet's syndrome) disorders. These conditions are characterized by recurrent attacks of fever, abdominal pain, arthritis, and cutaneous signs; these symptoms sometimes overlap, obscuring diagnosis. Distinguishing signs and the use of specific functional tests where available (e.g., in MKD) are helpful. However, some patients remain hard to manage despite the advent of new genetic tests and/or due to lack of effective treatment. PMID:19028365

Touitou, Isabelle; Koné-Paut, Isabelle

2008-10-01

336

Neonatal lupus erythematosus: Discordant disease expression of U 1RNP-positive antibodies in fraternal twins—Is this a subset of neonatal lupus erythematosus or a new distinct syndrome?  

Microsoft Academic Search

Neonatal lupus erythematosus (NLE) is an uncommon disease that is manifested by cutaneous lesions, cardiac conduction defects, or both, that appear in utero or shortly after birth. In approximately 95% of patients, anti-Ro antibody (Ro[SS-A]) has been identified and has become the serologic marker for NLE. Since 1987 there have been four reported cases of Ro- and anti-La antibody (La[SS-B])-negative,

Barry A Solomon; Teresita A Laude; Alan R Shalita

1995-01-01

337

Systemic Granulomatous Diseases Associated with Multiple Palpable Masses That May Involve the Breast: Case Presentation and an Approach to the Differential Diagnosis  

PubMed Central

Palpable mass is a common complaint presented to the breast surgeon. It is very uncommon for patients to report breast mass associated with palpable masses in other superficial structures. When these masses are related to systemic granulomatous diseases, the diagnosis and initiation of specific therapy can be challenging. The purpose of this paper is to report a case initially assessed by the breast surgeon and ultimately diagnosed as granulomatous variant of T-cell lymphoma, and discuss the main systemic granulomatous diseases associated with palpable masses involving the breast. PMID:25342951

Jales, Rodrigo Menezes; Pereira, Patrick Nunes; Stelini, Rafael Fantelli; Moro, Luciano

2014-01-01

338

Complete response and prolonged disease-free survival in a patient with recurrent duodenal adenocarcinoma treated with bevacizumab plus FOLFOX6  

PubMed Central

Small bowel adenocarcinoma is an uncommon gastrointestinal malignancy with limited data on effective chemotherapy in the adjuvant setting, as well as for advanced disease. We present a case report of a patient with recurrent duodenal adenocarcinoma after resection and adjuvant chemotherapy who experienced a complete response to bevacizumab with oxaliplatin and 5FU (FOLFOX) followed by bevacizumab/capecitabine maintenance therapy for 2 years. The patient continues to be disease-free 8 years after his recurrence. This case highlights the potential of vascular endothelial growth factor (VEGF) inhibitors to enhance chemotherapeutic regimens for advanced small bowel adenocarcinoma. PMID:24490045

Nagaraj, Gayathri; Zarbalian, Yousef; Flora, Karin

2014-01-01

339

Circular Abscess Formation of the Inner Preputial Leaf as a Complication of a Penile Mondor's Disease: The First Case Report  

PubMed Central

Introduction. Mondor's disease of the penis is an uncommon condition characterized by thrombosis or thrombophlebitis involving the superficial dorsal veins. An accompanied lymphangitis is discussed. There is typical self-limiting clinical course. Case Presentation. This paper firstly reports a secondary abscess formation of the preputial leaf two weeks after penile Mondor's disease and subcutaneous lymphangitis as complication of excessive sexual intercourse of a 44-year-old man. Sexual transmitted diseases could be excluded. Lesions healed up completely under abscess drainage, antibiotic, and anti-inflammatory medication. Conclusion. Previous reports in the literature include several entities of the penile Mondor's disease. Our patient is very unusual in that he presented with a secondary preputial abscess formation due to superficial thrombophlebitis, subcutaneous lymphangitis, and local bacterial colonisation. Abscess drainage plus antiphlogistic and antibiotic medication is the treatment of choice. PMID:24868480

Wendler, Johann Jakob; Schindele, Daniel; Liehr, Uwe-Bernd; Porsch, Markus; Schostak, Martin

2014-01-01

340

Lyme Disease Transmission  

MedlinePLUS

... Veterinarians Tool kit Lyme disease quiz Lyme disease transmission The Lyme disease bacterium, Borrelia burgdorferi , is spread ... treatment. There are no reports of Lyme disease transmission from breast milk. Although no cases of Lyme ...

341

Childhood Interstitial Lung Disease  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Childhood Interstitial Lung Disease? Childhood interstitial (in-ter-STISH-al) lung disease, or ... doctors better understand these diseases. Rate This Content: Childhood Interstitial Lung Disease Clinical Trials Clinical trials are ...

342

Interstitial Lung Diseases  

MedlinePLUS

Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation ... air is responsible for some types of interstitial lung diseases. Specific types include Black lung disease among coal ...

343

Lyme Disease Data  

MedlinePLUS

... Veterinarians Tool kit Lyme disease quiz Lyme Disease Data Fast Facts In 2013, 95% of confirmed Lyme ... U.S., 2012 Interactive Lyme Disease Map Lyme Disease Data File To facilitate the public health and research ...

344

Alzheimer's Disease Antimicrobial Peptides  

E-print Network

Keywords Alzheimer's Disease Antimicrobial Peptides Proteomics Posttranslational Modifications collaborations. Current international collaborations focus on Alzheimer's disease (Tau and A), molecular mechanisms of cell aging (glycation, oxidation) and related diseases (diabetes, Alzheimer's disease) as well

Schüler, Axel

345

Learning about Your Disease  

MedlinePLUS

... your disease Email this page Print this page Learning about your disease Learn more about common diseases ... may be a treatment option for you. Tweet Learning about your disease Acute Lymphoblastic Leukemia (ALL) Acute ...

346

Learning about Parkinson's Disease  

MedlinePLUS

... of Biological Chemistry , June 9, 2011 Learning About Parkinson's Disease What do we know about heredity and ... Disease What do we know about heredity and Parkinson's disease? Parkinson's disease (PD) is a neurological condition ...

347

Parkinson's Disease Dementia  

MedlinePLUS

Parkinson's Disease Dementia Tweet Parkinson's disease dementia is an impairment in thinking and reasoning that eventually affects ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

348

Depression and Parkinson's Disease  

MedlinePLUS

... see the NIMH booklet on Depression . What is Parkinson's disease? Parkinson's disease is a chronic disorder that ... or prevent Parkinson's disease. How are depression and Parkinson's disease linked? For people with depression and Parkinson's ...

349

Pregnancy and Thyroid Disease  

MedlinePLUS

... every 500 pregnancies. 1 Graves’ disease is an autoimmune disorder. Normally, the immune system protects people from infection ... gland. Like Graves’ disease, Hashimoto’s disease is an autoimmune disorder. In Hashimoto’s disease, the immune system attacks the ...

350

Lipid Storage Diseases  

MedlinePLUS

NINDS Lipid Storage Diseases Information Page Condensed from Lipid Storage Diseases Fact Sheet Table of Contents (click to jump to sections) ... Organizations Additional resources from MedlinePlus What are Lipid Storage Diseases? Lipid storage diseases are a group of ...

351

Acid Lipase Disease  

MedlinePLUS

... Acid Lipase Disease Information Page Synonym(s): Cholesterol Ester Storage Disease, Wolman’s Disease Table of Contents (click to ... include waxes, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the ...

352

Learning about Crohn's Disease  

MedlinePLUS

... Dietary Treatment of Crohn's Disease Immune Regulation in Ulcerative Colitis or Crohn's Disease Current NHGRI Clinical Studies Search ... to finding the cure for Crohn's disease and ulcerative colitis. Crohn's Disease and Ulcerative Colitis: A Parent's Guide [ ...

353

Poorly Responsive Celiac Disease  

MedlinePLUS

... Sources of Gluten . Microscopic Colitis, Crohn’s Disease and Ulcerative Colitis People with celiac disease have an increased incidence ... colitis and inflammatory bowel disease (Crohn’s disease and ulcerative colitis). Microscopic colitis is an inflammation of the colon, ...

354

Alzheimer's disease: strategies for disease modification  

Microsoft Academic Search

Alzheimer's disease is the largest unmet medical need in neurology. Current drugs improve symptoms, but do not have profound disease-modifying effects. However, in recent years, several approaches aimed at inhibiting disease progression have advanced to clinical trials. Among these, strategies targeting the production and clearance of the amyloid-? peptide — a cardinal feature of Alzheimer's disease that is thought to

Martin Citron

2010-01-01

355

[Castleman disease].  

PubMed

A 66 years female, who was since last year under astenia, arthralgias, pimply lesions in spread plates and tests showing eritrosedimentation over 100 mm, anemi, leucocitosis with neutrofilia, policlonal hypergammaglobulinemia, slight proteinuria and IgE on 900. This patient was sporadically treated with corticoids. When made the medical consult had lost 34lb., was under anorexy, as well as dyspepsia. Hemoglobyn 6.9 gr/dl, leucocytes 20000/mm3, neutrofils at 90%, proteinogram the same as former, with hypoalbuminemia. She was taking prednisona, 16 mg/day. When examined showed depress of conscience, astenia, and dermic lesions already quoted. 4 cm nonpainful right axillary adenopaty adhered to deep planes. Medulogram with increased iron, hyperegenerative. Ganglionar biopsia: linfoid hyperplasic process linked to inmune response. Toracoabdominal tomography with adenomegalia in torax and retroperitoneo. Skin biopsia: neutrofilic vasculitis. The patient suspends the 16 mg of prednisona and fever as well as generalized adenopatias come up. After laying aside other ethiologies, and understanding as Castleman Multicentric disease, it is started to supply prednisona 1 mg/kg of weight with a clinical and biochemical fast and outstanding response. After 7 months it was progressively suspended the esteroids and 60 days later, the process fall back; for that, corticoids are restarted, with a good evolution. The illness of Castleman although it is not very frequent, it should be considered as differential diagnosis in those clinical cases that are accompanied with important general commitment, linphadenopaties and respons to steroid therapy. PMID:16211996

Belletti, Gerardo A; Savio, Verónica; Minoldo, Daniel; Caminos, Susana; Yorio, Marcelo A

2004-01-01

356

[Osler's disease].  

PubMed

Osler's disease, also known as hereditary hemorrhagic telangiectasia (HHT) and Osler-Weber-Rendu syndrome, is an autosomal dominant disorder leading to abnormal blood vessel formation in the skin, mucous membranes and often in organs, such as the lungs, liver and brain (arteriovenous malformations AVM). Various types are known. Patients may present with epistaxis. Teleangiectasia can be identified by visual inspection during physical examination of the skin or oral cavity or by endoscopy. Diagnosis is made after clinical examination and genetic testing based on the Curacao criteria. Modern imaging modalities, such as computed tomography (CT) or magnetic resonance imaging (MRI) have become more important as they can depict the AVMs. Pulmonary AVMs can be depicted in CT imaging even without the use of a contrast agent while other locations including the central nervous system (CNS) usually require administration of contrast agents. Knowledge of possible clinical manifestations in various organs, possible complications and typical radiological presentation is mandatory to enable adequate therapy of these patients. Interventional procedures are becoming increasingly more important in the treatment of HHT patients. PMID:24276214

Ahlhelm, F; Lieb, J; Schneider, G; Müller, U; Ulmer, S

2013-12-01

357

Takotsubo disease.  

PubMed

Tako-tsubo cardiomyopathy, a novel heart syndrome with peculiar variant of left ventricular dysfunction, characterized by preferential apical dyskinesis and basal hyper contractility has been described on numerous occasions especially in persons without obstructive coronary artery disease. It is considered of reversible etiology and seems to have increased predisposition in elderly, stress-ridden females. Although Tako-tsubo cardiomyopathy was described initially in patients of Japanese origin, its existence in white populations in both Europe and the US have recently been documented. Simultaneous multivessel coronary spasm of the epicardial coronary microvessels is believed to be a major contributor. However, this pathophysiologic basis for this phenomenon has not been validated universally throughout literature. Another potential mechanism of events that seems to be responsible for this phenomenon is the transient myocardial stunning associated with hypersensitivity to catecholamine. The clinical presentation usually simulates that of an acute ST- elevated myocardial infarction but the coronary angiography by definition shows no critical lesions. Patients surviving acute episode usually recover fully in few weeks. Acute onset of cardiogenic shock in a person without coronary risk factors should raise the possibility of this rare type of entity but should not withhold the acute treatment. Prognosis generally varies and has largely been good. Takotsubo though largely benign may be fatal sometimes. PMID:17721563

Nepal, M

2007-01-01

358

One Man's Experience with Paget's Disease  

MedlinePLUS Videos and Cool Tools

... it is abnormal bone, which is prone to fracture. Announcer: Although relatively uncommon, Paget's is actually the ... can cause bone pain, arthritis, noticeable deformities and fracture. And Paget's can certainly impact quality of life. ...

359

[Pathological gambling and Parkinson disease].  

PubMed

Pathological gambling (PG) is defined by the DSM IV criteria as inappropriate, persistent, and maladaptive gambling behavior that has repercussions on family, personal, and professional life. It is classified as an impulse control disorder and is widely understood as a nonpharmacological addiction. PG has been reported as a complication in the treatment of Parkinson disease (PD). The prevalence of PG in PD has been reported to range between 1.7 and 7% compared to a prevalence of approximately 1% in the general population. Though there is no survey that indicates the prevalence of PG in Japanese PD patients, problematic gambling behaviors in PD are occasionally observed. In addition to PG other impulse control behaviors and punding (repetitive stereotyped behavior) are recognized as components of the dopamine dysregulation syndrome (DDS), which is characterized by the compulsive use of dopaminergic medications, including levodopa and subcutaneous apomorphine. Though PG can occur with DDS it often occurs in isolation. The vast majority of PG seen in PD is related to dopamine agonists (DA). With regard to the administration of oral DA, pramipexole may induce a higher degree of PG than other types of oral DA due to its disproportionate stimulation of dopamine D3 receptors. However, the differences between the observed effects of various classes of oral DA were insignificant. PG associated with levodopa mono-therapy is uncommon, but in the majority of cases levodopa is co-prescribed. Subthalamic nucleus deep brain stimulation (STN-DBS) was recently introduced to treat advanced PD. An improvement in PG symptoms following STN-DBS has been reported due to a marked decrease in dopaminergic medications. However, in some patients, PG developed following STN-DBS despite the significant reduction or discontinuation of DA. STN-DBS per se may be a potential initiator of PG. Younger age of PD onset, novelty seeking personality traits, history of alcohol abuse, and impulsivity traits were significant predictors of PG. Patients especially those with individual susceptibility to PG should be warned of the potential risks of PG before DA treatment is initiated. PMID:18807938

Fujimoto, Ken-Ichi

2008-09-01

360

Alzheimer disease: An interactome of many diseases  

PubMed Central

Alzheimer Disease (AD) is an outcome as well as source of many diseases. Alzheimer is linked with many other diseases like Diabetes type 2, cholesterolemia, hypertension and many more. But how each of these diseases affecting other is still unknown to scientific community. Signaling Pathways of one disease is interlinked with other disease. But to what extent healthy brain is affected when any signaling in human body is disturbed is the question that matters. There is a need of Pathway analysis, Protein-Protein interaction (PPI) and the conserved interactome study in AD and linked diseases. It will be helpful in finding the potent drug or vaccine target in conscious manner. In the present research the Protein-Protein interaction of all the proteins involved in Alzheimer Disease is analyzed using ViSANT and osprey tools and pathway analysis further reveals the significant genes/proteins linking AD with other diseases. PMID:24753659

Rao, Balaji S.; Gupta, Krishna Kant; Karanam, Pujitha; Peruri, Anusha

2014-01-01

361

[Inflammatory cardiac diseases by primary extracardial diseases].  

PubMed

As systemic immunological disorders, internal diseases in gastroenterology, rheumatology and infectiology can, in addition to the bowels, potentially involve the musculo-skeletal system, the immunological system and heart structures. All structures and functions of the heart can be affected. Pericarditis in lupus erythematosus and chronic inflammatory bowel disease, myocarditis in HIV infection and lyme disease are examples of cardiac manifestations of internal diseases. The pathogenetic causes can be manifold, such as direct cytotoxic effects in HIV or Borrelia burgdorferi infections, induced vasculitis and local activation of coagulation factors as in lupus erythematosus or chronic inflammatory bowel disease. Improved treatment options have led to more long-lasting courses of internal diseases, such as in infectious diseases, lupus erythematosus and chronic inflammatory bowel disease, thus cardiovascular complications such as pericarditis and myocarditis gain increasing importance as a consequence of chronic disease and therapy-related damage. PMID:17992497

Brehm, M; Rellecke, P; Strauer, B E

2008-01-01

362

Kozhevnikov epilepsy: the disease and its eponym.  

PubMed

Eponyms continue to have their place in medicine but there are pitfalls associated with their use. "Priorities" may be debatable, misattributions are not uncommon, and knowledge of the original papers is often insufficient. A. Ya. Kozhevnikov (1836-1902) is considered to be the founder of the Russian neurology, best known in the West for his work on epilepsia partialis continua (EPC), published in 1894. Kozhevnikov considered various natures for this disorder but thought chronic infectious etiology to be the most probable. Shortly the eponym Kozhevnikov epilepsy was coined and used in clinical practice and writing. Thirty-five years after Kozhevnikov's death, in 1937, a new form of viral encephalitis, Russian spring-summer tick-borne encephalitis (RTBE), was discovered, which was strongly associated with EPC and at times incorrectly attributed to Kozhevnikov by Russian (Soviet) and West-European scientists, although he never specifically identified or even could have recognized this disease entity. When, in 1958, Canadian scientists published about persisting focal epilepsy due to chronic focal encephalitis in children, a new disease was proclaimed: Rasmussen syndrome or Rasmussen chronic encephalitis. The only reference to Kozhevnikov in the Canadian papers was the incorrect suggestion that Kozhevnikov himself described EPC in RTBE. This historical error resulted in continuing misquotations of Kozhevnikov in the current literature and controversies concerning the place of Kozhevnikov epilepsy in the Classification Scheme of the International League Against Epilepsy (ILAE). The history of Kozhevnikov epilepsy thereby offers an illustrative example of the successive misunderstandings, errors, and controversies that arise due to insufficient knowledge or understanding of the original publications, questionable post hoc interpretations of earlier findings, misquoting of secondary papers, or a combination of all these. PMID:21204824

Vein, Alla A; van Emde Boas, Walter

2011-02-01

363

Autoimmune Thyroid Disease in Rheumatoid Arthritis: A Global Perspective  

PubMed Central

Objective. To determine the prevalence and impact of autoimmune thyroid disease (AITD) in patients with rheumatoid arthritis (RA). Methods. Eight-hundred patients were included. The association between AITD and RA was analyzed was analyzed by bivariate and multivariate analysis. In addition, a literature review was done focusing on geographical variations. Results. In our cohort the prevalence of AITD was 9.8% while the presence of antibodies was 37.8% for antithyroperoxidase enzyme (TPOAb) and 20.8% for antithyroglobulin protein (TgAb). The presence of type 2 diabetes, thrombosis, abnormal body mass index, and a high educational level was positively associated with AITD. The literature review disclosed a geographical variation of AITD in RA ranging from 0.5% to 27%. Autoantibody prevalence ranges from 6% to 31% for TgAb, 5% to 37% for TPOAb, and from 11.4% to 32% for the presence of either of the two. Conclusion. AITD is not uncommon in RA and should be systematically assessed since it is a risk factor for developing diabetes and cardiovascular disease. These results may help to further study the common mechanisms of autoimmune diseases, to improve patients' outcome, and to define public health policies. An international consensus to accurately diagnose AITD is warranted. PMID:23209899

Cardenas Roldan, Jorge; Amaya-Amaya, Jenny; Castellanos-de la Hoz, Juan; Giraldo-Villamil, Juliana; Montoya-Ortiz, Gladys; Cruz-Tapias, Paola; Rojas-Villarraga, Adriana; Mantilla, Ruben D.; Anaya, Juan-Manuel

2012-01-01

364

Fox-Fordyce-like disease following laser hair removal appearing on all treated areas.  

PubMed

Fox-Fordyce disease is an uncommon inflammatory disease of the apocrine sweat glands. Two recent reports indicated laser hair removal as a novel cause of axillary Fox-Fordyce disease. We report the first case of Fox-Fordyce disease developing in women after completing treatment with a depilatory hair laser appearing in the axillae, umbilicus, and pubis. We describe a case of Fox-Fordyce disease that developed in a 27-year-old woman 3 months after she had completed two LightSheer Diode laser treatments of her axilla, periumbilical region, and bikini area. Clinical and histopathological changes are as well detailed. Laser therapy induces damage to follicular infundibulum, resulting in altered maturation of keratinocytes which led to keratin plugging causing the common pathologic features in Fox-Fordyce disease. Differences in the physiologic features of the anatomic sites, in the susceptibility to laser-induced injury among these areas, or additional factors may contribute to Fox-Fordyce disease. PMID:23318918

Helou, Josiane; Maatouk, Ismaël; Moutran, Roy; Obeid, Grace

2013-07-01

365

Sacrococcygeal Yolk Sac Tumor: An Uncommon Site  

PubMed Central

A 30-month-old male infant presented with sacrococcygeal and pre-sacral mass. Ultrasound (US) abdomen revealed a huge pre-sacral mass with irregular margins extending into the pelvis, pushing the rectum antero-laterally. CT scan and MRI confirmed the US findings. Serum alpha fetoprotein level was abnormally elevated. Histopathological examination of surgical-specimen suggested sacrococcygeal yolk sac tumor (YST). PMID:23061033

Koubaa-Mahjoub, Wafa; Jouini, Raja; Bel Haj Salah, Meriem; Kaabar, Nejib; Chadli-Debbiche, Achraf

2012-01-01

366

Uncommon Sense in Renaissance English Literature  

Microsoft Academic Search

My project explores the distinctive union of Senecan tragedy and Elizabethan satire in Renaissance English drama, particularly the works of John Marston and William Shakespeare. Unlike Ben Jonson, who incorporated both Senecan tragedy and Elizabethan satire in his drama but did so in different plays (Catiline, Every Man Out), Marston and Shakespeare combined the two traditions in one and the

Eric Byville

2010-01-01

367

Xiphoid syndrome: an uncommon occupational disorder.  

PubMed

We report a case of a 45-year-old man, complaining of swelling and pain in his epigastric region for the last 3 years. According to his medical history, he had undergone various investigations and treatments for gastro-oesophageal reflux, without relief. He had had a history of chronic repeated microtraumas to his sternum during 9 years of working as a carpenter, as a result of placing wood against his anterior chest wall and pushing the former into a plank cutting machine. On examination, a tender swelling was palpable as an immobile, hard mass showing minimal protrusion under the skin on the xiphoid process. He was diagnosed as having xiphoid syndrome. We prescribed anti-inflammatory medication and advised him to avoid pressure on his anterior chest wall, especially on the sternum, while cutting wood. At follow-up, the symptoms were relieved. Xiphoid syndrome may be seen in people performing hard physical work who incur sustained pressure or friction on their anterior chest wall. The case emphasizes the importance of the occupational history as well as clinical and radiological investigation of unusual conditions as mentioned above. PMID:24336479

Yapici Ugurlar, O; Ugurlar, M; Ozel, A; Erturk, S M

2014-01-01

368

Uncommon presentation of a common disorder  

PubMed Central

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. PMID:23661978

Sowmini, P. R.; Jawahar, M.; Bhanu, K.

2013-01-01

369

Methylation - an uncommon modification of glycans*  

PubMed Central

A methyl group on a sugar residue is a rarely reported event. Until now this kind of modification has been found in the kingdom of animals only in worms and molluscs, whereas it is more frequently present in some species of bacteria, fungi, algae and plants, but not in mammals. The monosaccharides involved as well as the positions of the methyl groups on the sugar vary with the species. Methylation seems to play a role in some recognition events but details are still unknown. This review summarises the current knowledge on methylation of sugars in all kinds of organism. PMID:22944672

Staudacher, Erika

2013-01-01

370

Critical illness at mass gatherings is uncommon.  

PubMed

Gatherings of large numbers of people at concerts, sporting events, and other occasions lead to an assembled population with a potential for a wide variety of illnesses and injuries. The collection of large numbers of people in a single location has led some authors to recommend the placement of resuscitation equipment or other medical services in close proximity to these activities. These recommendations not withstanding, data on the frequency of critical illness at mass gatherings (a group exceeding 1000 persons) are difficult to ascertain. Therefore, it was the purpose of this study to describe the incidence of critical illnesses among assembled populations at mass gatherings. An observational prospective study was conducted involving patient encounters at a large, multipurpose, indoor mass-gathering complex in Houston, Texas occurring between September 1, 1996 and June 30, 1997. Demographic, treatment, disposition and diagnostic data were analyzed in a computerized database. Of the 3.3 million attendants to the 253 events analyzed during the 10-month study period, there were 2762 (0.08%) patient encounters. Fifty-two percent were women. Mean age was 32 +/- 15.6 years. Of these patients, 51.1% were patrons and the remaining patients were employees or contractors of the facility. A wide variety of illness was seen with trauma (39.5%), headache (31%), and other medical complaints (29.5%) being most frequent. Disposition of the patients included 95.3% being discharged to go back to the event and 2.2% being counseled to seek other medical attention. One hundred twenty-nine patients (4.7%) were referred to the Emergency Department (ED); of these, 70 were transferred for abrasions, lacerations, or skeletal injuries and 13 for chest pain. Of those referred to the ED, 50 (38.7%) patients were transported by ambulance and only 17.4% were admitted to telemetry, with none admitted to an ICU. It is concluded that critical illness at mass gatherings is infrequent, as seen in this study, with very few being admitted to telemetry and none to an ICU. Careful consideration of cost-benefit should occur when determining allocation of resources for these activities. PMID:14654182

Varon, Joseph; Fromm, Robert E; Chanin, Katia; Filbin, Michael; Vutpakdi, Kris

2003-11-01

371

Uncommon Etiology of Chest Pain: Pulmonary Sequestration  

PubMed Central

Chest pain is a common presenting symptom in the emergency department. After ruling out emergent causes, emergency physicians need to identify and manage less commonly encountered conditions. Pulmonary sequestration (PS) is a rare congenital condition involving pulmonary parenchyma. In PS, a portion of non-functional lung tissue receives systemic blood supply from an anomalous artery. While most individuals with PS present in early life with symptoms of difficulty feeding, cyanosis, and dyspnea, some present later with recurrent pneumonia, hemoptysis, or productive cough. In this report, we present a case of PS in an adult with acute onset pleuritic chest pain. PMID:24381687

Haider, Asghar; Hoonpongsimanont, Wirachin

2013-01-01

372

Uncommon Sense for Parents with Teenagers.  

ERIC Educational Resources Information Center

This guide to parenting high school-age adolescents is intended to help parents restructure the typically adversarial relationship between parent and teenager by replacing the "parent as manager" role with the "parent as consultant" role. The text is question-driven, comprised of a series of responses to questions commonly asked by parents and…

Riera, Michael

373

Stomach in a parastomal hernia: uncommon presentation  

PubMed Central

Parastomal herniae are among the most common complications of stoma formation. The authors present an unusual case of a 41-year-old lady who presented with frequent early postprandial vomiting devoid of bile, upper abdominal distension and weight loss in the preceding 4 weeks losing weight for the last 4 weeks. Barium meal revealed herniation of the stomach through the gastric wall causing gastric outlet obstruction. Intraoperatively she was found to have a subcutaneous incarcerated parastomal hernia containing viable stomach and small bowel loops. The hernial contents were reduced back into the peritoneum and the abdominal wall defect repaired using the open sombrero repair technique. PMID:22605584

Bota, Emil; Shaikh, Irshad; Fernandes, Roland; Doughan, Sameer

2012-01-01

374

“Double cervical rib with uncommon presentation”  

Microsoft Academic Search

Double or Bilateral cervical ribs. Pseudo arthrosis of cervical rib with first rib causing neurovascular complication is a\\u000a rare congenital anomaly. We report a case of young man who presented with intermittent claudication in the right hand and\\u000a involvement of peripheral nerves. He had bilateral cervical ribs. Left side cervical rib was small. Right side cervical rib\\u000a had pseudo arthrosis

Mahadev Dixit; Mohan Gan; Narendra Nishanimath; Bhaskar Venkatakrishnaiah Bhagyalakshmi; Prashant Sajjan; Aruneshwari Dayal

2010-01-01

375

Uncommon Teaching in an Unexpected Place  

ERIC Educational Resources Information Center

Continued physical well-being is important, especially within the aging teacher ranks. The story of one veteran exercise instructor emphasizes fitness and weaves best classroom practices throughout the narrative.

Shore, Rebecca

2014-01-01

376

An Uncommon Guide to College Union Programming.  

ERIC Educational Resources Information Center

This guide is an attempt to identify generally the kinds of programs planned by college unions for the spring semester of 1973. The programs are classified by types of events: theater, concerts and artists series, films, recreation, theme series, short courses, food, travel, art exhibitions, outdoor programs, craft shops, building services and…

Sturgell, J. S.

377

Uncommon Sense - The Heretical Nature of Science  

Microsoft Academic Search

Most people believe that science arose as a natural end-product of our innate intelligence and curiosity, as an inevitable stage in human intellectual development. But physicist and educator Alan Cromer disputes this belief. Cromer argues that science is not the natural unfolding of human potential, but the invention of a particular culture, Greece, in a particular historical period. Indeed, far

Alan Cromer; Alfred Romer

1995-01-01

378

Spatial connectedness of plant species: potential links for apparent competition via plant diseases  

E-print Network

. Bouteloua curtipendula was uncommon but occurred in all environments, while Buchloe dactyloides and Bouteloua gracilis were uncommon and only occurred in upland sites. Co-occurrence of plant species

Garrett, Karen A.

379

Rosai-dorfman disease in thoracic spine: a rare case of compression fracture.  

PubMed

Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine. PMID:25346769

Kim, Do Young; Park, Ji Hye; Shin, Dong Ah; Yi, Seung; Ha, Yoon; Yoon, Do Heum; Kim, Keung Nyun

2014-09-01

380

Disease flare of ankylosing spondylitis presenting as reactive arthritis with seropositivity: a case report  

PubMed Central

Introduction Concurrent rheumatoid factor seropositivity is occasionally detected in ankylosing spondylitis and often causes confusion in clinical routine. Overlap between various seronegative arthritides is a known but uncommon association. Differentiation of spondyloarthropathy from rheumatoid arthritis is important, since the natural history, complications, treatments and prognosis of the two diseases differ significantly. Case presentation Here, we report the case of a 47-year-old Sri Lankan man who had a long history of intermittent joint pains worsening following a recent episode of self-resolving non-bloody diarrhea. Subsequently, he developed a skin rash suggestive of keratoderma blenorrhagica and circinate balanitis. He had classical radiological evidence of ankylosing spondylosis (previously undiagnosed) associated with human leukocyte antigen B27 antigen, but was positive for rheumatoid factor. Conclusions A disease flare of ankylosing spondylitis prompted by a minor diarrheal illness showing well documented features of reactive arthritis is remarkable. The prognostic implications of seropositivity in spondyloarthritis are discussed. PMID:22333429

2012-01-01

381

Rosai-Dorfman Disease in Thoracic Spine: A Rare Case of Compression Fracture  

PubMed Central

Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine. PMID:25346769

Kim, Do Young; Park, Ji Hye; Shin, Dong Ah; Yi, Seung; Ha, Yoon; Yoon, Do Heum; Kim, Keung Nyun

2014-01-01

382

RARE DISEASES LIST  

EPA Science Inventory

The rare disease list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. A rare disease is defined as a disease or condition for which there are fewer than 200,000 affected persons alive in the United States. The Of...

383

Alzheimer's Disease: The Death of the Disease.  

ERIC Educational Resources Information Center

Alzheimer's disease, a form of dementia in middle-age and older adults is becoming more evident because of growing numbers of older people and better diagnosis and detection methods. Describes the behavioral and physical symptoms of the disease as well as specific suggestions for care of patients with Alzheimer's disease, including dealing with…

McBroom, Lynn W.

1987-01-01

384

Coronary Microvascular Disease (MVD)  

MedlinePLUS

... damaged or diseased. Coronary MVD is different from traditional coronary heart disease (CHD), also called coronary artery ... drop in estrogen levels during menopause combined with traditional heart disease risk factors. Both men and women ...

385

Pelvic Inflammatory Disease (PID)  

MedlinePLUS

... Pelvic Inflammatory Disease (PID) - CDC Fact Sheet Untreated sexually transmitted diseases (STDs) can cause pelvic inflammatory disease (PID), a serious ... It is a complication often caused by some STDs, like chlamydia and gonorrhea. Other infections that are ...

386

Chronic obstructive pulmonary disease  

MedlinePLUS

COPD; Chronic obstructive airways disease; Chronic obstructive lung disease; Chronic bronchitis; Emphysema; Bronchitis - chronic ... Systems Improvement. Diagnosis and Management of Chronic ... Disease (COPD). Updated March 2013. Available at: https://www. ...

387

Interstitial Lung Disease  

MedlinePLUS

... MS Dept. of Medicine View full profile Interstitial Lung Disease (ILD): Overview Interstitial lung disease (ILD) is a ... they may make informed decisions Learn more. Interstitial Lung Disease Program As a center specializing in the care ...

388

Heart Disease in Women  

MedlinePLUS

... page from the NHLBI on Twitter. How Does Heart Disease Affect Women? In the United States, 1 ... about coronary MVD and broken heart syndrome. Coronary Heart Disease CHD is a disease in which plaque ( ...

389

Types of Periodontal Disease  

MedlinePLUS

Types of Periodontal Disease Gingivitis Chronic Periodontitis Aggressive Periodontitis Periodontitis Caused by Conditions of the Body Necrotizing Periodontal Diseases Periodontal disease can refer to any condition that affects the gums and ...

390

Parkinson disease - discharge  

MedlinePLUS

Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads ... have you take different medicines to treat your Parkinson disease and many of the problems that may ...

391

Associated Autoimmune Diseases  

MedlinePLUS

... individuals with autoimmune diseases are women. In an autoimmune disorder, the cells of the immune system produce antibodies ... damage. This is not a complete listing of autoimmune diseases associated with celiac disease. Anyone who has unexplained, ...

392

Lewy Body Disease  

MedlinePLUS

... be hard to diagnose, because Parkinson's disease and Alzheimer's disease cause similar symptoms. Scientists think that Lewy body disease might be ... no cure. Treatment focuses on drugs to help symptoms. NIH: National Institute of Neurological Disorders and Stroke

393

American Lyme Disease Foundation  

MedlinePLUS

... A. Jacobs, M.D., Emeritus Professor, Division of Infectious Diseases, University of California - San Francisco [ Video ] Lyme Disease ... on line Find a Local Physician Knowledgeable About Infectious Diseases The best private organization-based site that can ...

394

Ebola Virus Disease  

MedlinePLUS

Ebola virus disease Fact sheet N°103 Updated September 2014 Key facts Ebola virus disease (EVD), formerly ... 7 weeks after recovery from illness. Symptoms of Ebola virus disease The incubation period, that is, the ...

395

Plasmapheresis and Autoimmune Disease  

MedlinePLUS

... the booklet in this Web page . Plasmapheresis and Autoimmune Disease Many diseases, including myasthenia gravis, Lambert-Eaton syndrome, ... tissues has been the most common approach to autoimmune disease for more than 30 years. Many new immunosuppressants ...

396

Leprosy (Hansen's Disease)  

MedlinePLUS

... on. Read more information on enabling JavaScript. Leprosy (Hansen's Disease) Skip Content Marketing Share this: Main Content Area What Is Leprosy? Leprosy (Hansen’s Disease), is a chronic infectious disease that primarily ...

397

Heart disease and diet  

MedlinePLUS

Diet - heart disease ... diet and lifestyle can reduce your risk of heart disease, heart attacks, and stroke. Conditions that lead to heart disease, including high cholesterol , high blood pressure, obesity , and ...

398

Pelvic Inflammatory Disease  

MedlinePLUS

... is not treated promptly. What causes PID? Two sexually transmitted diseases (STDs) — gonorrhea and chlamydia —are the main cause ... A manual examination of a woman’s reproductive organs. Sexually Transmitted Diseases (STDs): Diseases that are spread by sexual contact. ...

399

Liver in systemic disease  

PubMed Central

Potential causes of abnormal liver function tests include viral hepatitis, alcohol intake, nonalcoholic fatty liver disease, autoimmune liver diseases, hereditary diseases, hepatobiliary malignancies or infection, gallstones and drug-induced liver injury. Moreover, the liver may be involved in systemic diseases that mainly affect other organs. Therefore, in patients without etiology of liver injury by screening serology and diagnostic imaging, but who have systemic diseases, the abnormal liver function test results might be caused by the systemic disease. In most of these patients, the systemic disease should be treated primarily. However, some patients with systemic disease and severe liver injury or fulminant hepatic failure require intensive treatments of the liver. PMID:18636653

Shimizu, Yukihiro

2008-01-01

400

Atheroembolic renal disease  

MedlinePLUS

Renal disease - atheroembolic; Cholesterol embolization syndrome; Atheroemboli - renal; Atherosclerotic disease - renal ... disorder of the arteries. It occurs when fat, cholesterol, and other substances build up in the walls ...

401

Purification and characterization of the N-terminal nucleotide binding domain of an ABC drug transporter of Candida albicans: uncommon cysteine 193 of Walker A is critical for ATP hydrolysis.  

PubMed

The Candida drug resistance protein Cdr1p (approximately 170 kDa) is a member of ATP binding cassette (ABC) superfamily of drug transporters, characterized by the presence of 2 nucleotide binding domains (NBD) and 12 transmembrane segments (TMS). NBDs of these transporters are the hub of ATP hydrolysis activity, and their sequence contains a conserved Walker A motif (GxxGxGKS/T). Mutations of the lysine residue within this motif abrogate the ability of NBDs to hydrolyze ATP. Interestingly, the sequence alignments of Cdr1p NBDs with other bacterial and eukaryotic transporters reveal that its N-terminal NBD contains an unusual Walker A sequence (GRPGAGCST), as the invariant lysine is replaced by a cysteine. In an attempt to understand the significance of this uncommon positioning of cysteine within the Walker A motif, we for the first time have purified and characterized the N-terminal NBD (encompassing first N-terminal 512 amino acids) of Cdr1p as well as its C193A mutant protein. The purified NBD-512 protein could exist as an independent functional general ribonucleoside triphosphatase with strong divalent cation dependence. It exhibited ATPase activity with an apparent K(m) in the 0.8-1.0 mM range and V(max) in the range of 147-160 nmol min(-)(1) (mg of protein)(-)(1). NBD-512-associated ATPase activity was also sensitive to inhibitors such as vanadate, azide, and NEM. The Mut-NBD-512 protein (C193A) showed a severe impairment in its ability to hydrolyze ATP (95%); however, no significant effect on ATP (TNP-ATP) binding was observed. Our results show that C193 is critical for N-terminal NBD-mediated ATP hydrolysis and represents a unique feature distinguishing the ATP-dependent functionality of the ABC transporters of fungi from those found in bacteria and other eukaryotes. PMID:12962507

Jha, Sudhakar; Karnani, Neerja; Dhar, Suman K; Mukhopadhayay, Kasturi; Shukla, Suneet; Saini, Preeti; Mukhopadhayay, Gauranga; Prasad, Rajendra

2003-09-16

402

Formation and anti-tumor activity of uncommon in vitro and in vivo metabolites of CPI-613, a novel anti-tumor compound that selectively alters tumor energy metabolism.  

PubMed

CPI-613 is a novel anti-tumor compound with a mechanism-of-action which appears distinct from the current classes of anti-cancer agents used in the clinic. CPI-613 demonstrates both in vitro and in vivo anti-tumor activity. In vitro metabolic studies using liver S9 were performed which demonstrated that CPI-613 undergoes both phase 1 (oxidation) and phase 2 (glucuronidation) transformations. Its metabolic half-life varied between species and ranged from 8 minutes (Hanford minipig) to 47 minutes (CD-1 mouse). We performed metabolite mass assessments using selected in vitro incubation samples and demonstrated that +16 amu oxidation with and without +176 amu glucuronidation products were generated by human and animal liver S9. LC/MS/MS fragmentation patterns showed that an uncommon sulfoxide metabolite was formed and the O-glucuronidation occurred at the terminal carboxyl moiety. We observed that the +192 amu sulfoxide/glucuronide was generated only in human liver S9 and not by any of the other species tested. Synthetic metabolites were prepared and compared with the enzymatically-generated metabolites. Both the chromatographic retention times and the LC/MS/MS fragmentation patterns were similar, demonstrating that the synthetic metabolites were virtually identical to the S9-generated products. CYP450 reaction phenotyping and inhibition data both suggested that multiple CYP isozymes (2C8 and 3A4, along with minor contributions by 2C9 and 2C19) were involved in CPI-613 metabolism and sulfoxide formation. Plasma samples from human subjects dosed with CPI-613 also contained the sulfoxide ± glucuronide metabolites. These results show that the in vitro- and in vivo-generated phase 1 and phase 2 metabolites were in good agreement. PMID:21722089

Lee, King C; Shorr, Robert; Rodriguez, Robert; Maturo, Claudia; Boteju, Lakmal W; Sheldon, Adrian

2011-08-01

403

Autoimmune diseases in gastroenterology.  

PubMed

There are several different diseases in gastroenterology with an important role of immunological mechanisms in their pathogenesis. We know autoimmune diseases with immunological reactions against liver or pancreatic tissue. In addition there are diseases like chronic inflammatory bowel diseases representing inappropriate immunological reactions followed by inflammation and tissue destruction. The research of the last decade has contributed significantly to the understanding of the pathogenesis of diseases based on immunological mechanisms and consequently to the development of novel therapeutic strategies targeting molecules. Chronic inflammatory bowel diseases, autoimmune hepatitis, primary sclerosing cholangitis, primary biliary cirrhosis, autoimmune pancreatitis, and celiac disease are the most important diseases with immunological pathogenesis in Gastroenterology. Especially in chronic inflammatory bowel diseases ulcerative colitis and Crohn's disease with immunosuppressive drugs and monoclonal antibodies new preparations are used in therapy. Autoimmune pancreatitis was characterized as an own entity in the last years. Therefore, this review will focus on these diseases. PMID:22612745

Emmrich, Joerg; Jaster, Robert

2012-01-01

404

Castleman's disease in the pelvic retroperitoneum: A case report and review of the Japanese literature  

PubMed Central

INTRODUCTION Castleman's disease is a fairly rare benign tumor of lymphoid origin. It can develop anywhere lymphoid tissue is found, but the expected origin is mediastinum and rarely pelvic retroperitoneum. PRESENTATION OF CASE A 22-year-old woman was admitted to our hospital for a mass in the pelvic retroperitoneum that was detected incidentally on an ultrasonography during a routine medical checkup with no signs of symptoms. After laboratory examination, ultrasonography, and magnetic resonance imaging (MRI), surgical resection was performed successfully through a lower midline incision. But the patient was needed transfusion because of massive bleeding. Postoperative histopathological diagnosis was hyaline-vascular type of Castleman's disease. The patient is leading an active social life without any signs of sequelae or recurrence. DISCUSSION Through the review of Japanese literature on Castleman's disease in the retroperitoneum, the characteristics of preoperative imaging findings are studied. Castleman's disease is easily misdiagnosed clinically because of its scarcity and no specific imaging findings. And the embolization via angiography should be considered in the hypervasular tumors such as in this case to prevent massive bleeding and transfusion. CONCLUSION Although Castleman's disease is uncommon, it should always be included in the differential diagnosis of pelvic retroperitoneal tumors. A better knowledge of this disease would help surgeon to avoid unnecessarily extensive resection and massive bleeding for transfusion when dealing with retroperitoneal tumors. PMID:23103628

Sato, Atsushi

2012-01-01

405

Adventitial cystic disease of the common femoral artery: a case report and literature review.  

PubMed

Arterial adventitial cystic disease is an uncommon type of non-atherosclerotic peripheral vessel disease. Most cases of arterial adventitial cystic disease occur in the popliteal arteries; however, fewer cases have been reported in the femoral arteries. A 59-year-old male patient visited the hospital with a complaint of a swelling on the lower extremity that had begun two months earlier. Suspecting deep vein thrombosis based on a physical examination and ultrasonography from another hospital, tests were performed. Magnetic resonance imaging (MRI) was performed for exact diagnosis because venous adventitial cystic disease was suspected by computed tomography venography. The MRI indicated venous adventitial cystic disease as well. Thus, a cystic mass excision was performed. In the end, a cystic mass compressing the common femoral vein that originated from the common femoral artery was diagnosed based on the macroscopic findings. This case is reported because blood circulation in the vein was impeded due to arterial adventitial cystic disease, and the symptoms improved after the cystic mass excision and polytetrafluoroethylene roofing angioplasty. PMID:23614104

Kim, Sung Hwan; Lee, Chung Eun; Park, Hyun Oh; Kim, Jong Woo; Choi, Jun Young; Lee, Jeong Hee

2013-04-01

406

Effect of impulse control disorders on disability and quality of life in Parkinson's disease patients.  

PubMed

Impulse control and related disorders (ICRD) are not uncommon in patients with idiopathic Parkinson's disease (PD). The present study aimed to investigate the effects of ICRD on quality of life (QoL) and disability in PD. From two movement disorder clinics in Sydney, Australia, 100 consecutive patients with PD were included in the trial. The Unified Parkinson's Disease Rating Scale (UPDRS), Mini Mental State Examination and the Parkinson's Disease Questionnaire-39 were used to measure disease severity, cognition and disease-specific QoL. The diagnosis of ICRD was based on face-to-face structured clinical interviews by three psychiatrists with experience in ICRD using the Expanded Structured Clinical Interview for the Diagnostic and Statistical Manual IV for Obsessive-Compulsive Disorder Related/Spectrum Disorders. ICRD were present in 15% of our patient population, and had a negative impact on QoL and Activity of Daily Living (ADL) scores. After adjusting for the presence of major depressive disorders and PD duration, the effect on emotional wellbeing remained statistically significant (p<0.004). Disease duration also correlated with worse QoL and ADL scores. Major depression disorders reduced QoL but not ADL. Patients with ICRD tended to suffer more from depression than those without ICRD. There were no statistically significant differences in age, sex, major depressive disorders, PD duration, total levodopa equivalent daily dose, use of dopamine agonists, or UPDRS motor score between patients with and without ICDR. PMID:24035421

Phu, Amy L; Xu, Zheyu; Brakoulias, Vlasios; Mahant, Neil; Fung, Victor S C; Moore, Gregory De; Martin, Andrew; Starcevic, Vladan; Krause, Martin

2014-01-01

407

Carotid Artery Disease  

MedlinePLUS

... the NHLBI on Twitter. What Is Carotid Artery Disease? Carotid (ka-ROT-id) artery disease is a disease in which a waxy substance ... the United States. Other conditions, such as certain heart problems and ... or treat carotid artery disease and may reduce the risk of stroke. If ...

408

Plant Disease Lesson: Blackleg  

NSDL National Science Digital Library

This plant disease lesson on Blackleg (caused by Leptosphaeria maculans (teleomorph) Phoma lingam (anamorph).) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.

Gavin Ash (Charles Sturt University;)

2000-11-11

409

Autoimmunity in thyroid disease  

Microsoft Academic Search

The autoimmune thyroid diseases, Graves' disease and autoimmune hypothyroidism, represent the two ends of a disease spectrum where an immune response is directed against the thyroid gland. In Graves' disease, antibodies directed against the thyrotropin receptor (TSH-R) lead to the development of glandular overactivity, while in autoimmune hypothyroidism, cell-mediated and humoral thyroid injury leads to destruction of thyroid tissue and

Joanne Collins; Stephen Gough

2002-01-01

410

What Causes Heart Disease?  

MedlinePLUS

... page from the NHLBI on Twitter. What Causes Heart Disease? Research suggests that coronary heart disease (CHD) begins with damage to the lining and ... causing coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the heart's tiny arteries. The cause ...

411

Current and emerging treatment options for Peyronie's disease  

PubMed Central

Peyronie’s disease (PD) is a condition of the penis, characterized by the presence of localized fibrotic plaque in the tunica albuginea. PD is not an uncommon disorder, with recent epidemiologic studies documenting a prevalence of 3–9% of adult men affected. The actual prevalence of PD may be even higher. It is often associated with penile pain, anatomical deformities in the erect penis, and difficulty with intromission. As the definitive pathophysiology of PD has not been completely elucidated, further basic research is required to make progress in the understanding of this enigmatic condition. Similarly, research on effective therapies is limited. Currently, nonsurgical treatments are used for those men who are in the acute stage of PD, whereas surgical options are reserved for men with established PD who cannot successfully penetrate. Intralesional treatments are growing in clinical popularity as a minimally invasive approach in the initial treatment of PD. A surgical approach should be considered when men with PD do not respond to conservative, medical, or minimally invasive therapies for approximately 1 year and cannot have satisfactory sexual intercourse. As scientific breakthroughs in the understanding of the mechanisms of this disease process evolve, novel treatments for the many men suffering with PD are anticipated. PMID:24400231

Gokce, Ahmet; Wang, Julie C; Powers, Mary K; Hellstrom, Wayne JG

2013-01-01

412

Parasitic diseases of remote Indigenous communities in Australia.  

PubMed

Indigenous Australians suffer significant disadvantage in health outcomes and have a life expectancy well below that of non-Indigenous Australians. Mortality rates of Indigenous Australians are higher than that of Indigenous populations in developed countries elsewhere in the world. A number of parasitic diseases which are uncommon in the rest of the Australian population contribute to the high burden of disease in many remote Indigenous communities. High rates of infection with enteric parasites such as Strongyloides stercoralis, hookworm and Trichuris have been recorded and infection of the skin with the ecto-parasitic mite Sarcoptes scabiei is also a substantial problem. Secondary infection of scabies lesions, including with Staphylococcus aureus and group A Streptococcus, can produce serious sequelae such as rheumatic fever and post-streptococcal glomerulonephritis. Transmission of many parasites in many remote communities is facilitated by overcrowded living conditions and infrastructure problems which result in poor sanitation and hygiene. Improvements in environmental health conditions must accompany medical initiatives to achieve sustainable improvement in the health of Indigenous Australians. PMID:20412810

Holt, Deborah C; McCarthy, James S; Carapetis, Jonathan R

2010-08-15

413

[Neglected tropical diseases - review].  

PubMed

Neglected tropical diseases include a variety of infectious diseases. This review shortly describes the most common diseases. Those infected usually live at a low socioeconomic status and rarely have access to satisfactory health care. The neglected diseases are common and have a high burden of disease. In comparison to HIV, malaria and tuberculosis this group of diseases is in fact neglected. Certain diseases within the group are more neglected than others. Investment for research does not appear to be decided in proportion to burden of disease. Much can be gained by extermination of these diseases. The solution is to integrate improvement of living standards and battling diseases. Iceland has a role to play. PMID:22133523

Kristjansson, Julius; Gudmundsson, Sigurdur

2011-12-01

414

Mycobacterial disease in patients with rheumatic disease  

Microsoft Academic Search

This Review focuses on the emergence of mycobacterial disease in patients undergoing treatment for rheumatic disease with four new drug classes—tumor necrosis factor (TNF) inhibitors, human interleukin (IL)-1 receptor antagonists, anti-CD20 antibodies and CD4+ T-cell costimulation modulators—collectively referred to as biologic agents. Mycobacterial disease is a major cause of severe infection in patients undergoing anti-TNF therapy. Reports are now emerging

Martin J Boeree; PN Richard Dekhuijzen; Dick van Soolingen; Jakko van Ingen

2008-01-01

415

Oral Crohn's disease.  

PubMed

'Crohn's disease' is an inflammatory granulomatous disease of the gastrointestinal tract with extra-intestinal manifestations. Oral lesions may precede the intestinal disease and serve as a source for histological diagnosis. We present a case of orofacial Crohn's disease where orofacial symptoms were present for about 13 years and occasional constipation was present, since 6 months. Oral examination plays an important role in early diagnosis of Crohn's disease. PMID:25364165

Padmavathi, Bn; Sharma, Smriti; Astekar, Madhusudan; Rajan, Y; Sowmya, Gv

2014-09-01

416

Renal cystic disease  

SciTech Connect

The book begins with an overview of renal cystic disease and a presentation of simple renal cysts. Subsequent chapters cover cystic disease in association with renal neoplasms and medullary sponge kidney. The chapters addressing autosomal-dominant and autosomal-recessive polycystic kidney disease discuss and differentiate the infantile and adult forms of the disease. There are also separate discussions of medullary cystic disease, multicystic dysplastic kidney, and cysts of the renarenal sinus.

Hartman, D.S.

1988-01-01

417

Oral Crohn's disease  

PubMed Central

’Crohn's disease’ is an inflammatory granulomatous disease of the gastrointestinal tract with extra-intestinal manifestations. Oral lesions may precede the intestinal disease and serve as a source for histological diagnosis. We present a case of orofacial Crohn's disease where orofacial symptoms were present for about 13 years and occasional constipation was present, since 6 months. Oral examination plays an important role in early diagnosis of Crohn's disease. PMID:25364165

Padmavathi, BN; Sharma, Smriti; Astekar, Madhusudan; Rajan, Y; Sowmya, GV

2014-01-01

418

Emerging and reemerging epidemic-prone diseases among settling nomadic pastoralists in Uganda.  

PubMed

Epidemic-prone diseases have traditionally been uncommon among nomadic pastoralists as mobility allows already dispersed populations to migrate away from epidemic threats. In the Karamoja region of Uganda, nomadic pastoralists are transitioning to an increasingly settled lifestyle due to cattle raiding and associated civil insecurity. In attempts to reduce conflict in the region, the Ugandan government has instituted disarmament campaigns and encouraged sedentism in place of mobility. In Karamoja, this transition to sedentism has contributed to the emergence and reemergence of epidemic-prone diseases such as cholera, hepatitis E, yellow fever, and meningococcal meningitis. The incidence of these diseases remains difficult to measure and several challenges exist to their control. Challenges to communicable disease surveillance and control among settling nomadic pastoralists are related to nomadic mobility, remote geography, vaccination and immunity, and poor sanitation and safe water access. In addition to improving gaps in infrastructure, attracting well-trained government health workers to Karamoja and similar areas with longstanding human resource limitations is critical to address the challenges to epidemic-prone disease surveillance and control among settling nomadic pastoralists. In conjunction with government health workers, community health teams provide a sustainable method by which public health programs can be improved in the austere environments inhabited by mobile and settling pastoralists. PMID:24784434

Cummings, Matthew J; Wamala, Joseph F; Komakech, Innocent; Malimbo, Mugagga; Lukwago, Luswa

2014-09-01

419

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

PubMed Central

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. PMID:24604929

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

2013-01-01

420

Clinical and radiologic manifestations of sickle cell disease in the head and neck.  

PubMed

Sickle cell disease is a common inherited blood disorder that is characterized by the presence of sickle-shaped red blood cells. The clinical manifestations of sickle cell disease vary, but they may be attributed to three mechanisms: vaso-occlusion, chronic hemolytic anemia, and infection. The imaging appearances of central nervous system and musculoskeletal involvement by sickle cell disease have been well documented; however, involvement in the head and neck often is underappreciated, although it is not uncommon. In the head and neck, sickle cell disease can involve the inner ears, orbits, paranasal sinuses, bones, lymph nodes, and vessels. Manifestations of inner ear involvement include labyrinthine hemorrhage and labyrinthitis ossificans. In the orbits, they include lacrimal gland swelling, orbital wall infarction, and subperiosteal hemorrhage or fluid. In the paranasal sinuses, extramedullary hematopoiesis is seen. When bone is involved, infarction, osteomyelitis, bone marrow hyperplasia, and deposition of iron in bone marrow are seen in the maxillofacial bone and skull base. When lymph nodes are involved, lymphadenopathy is seen, and when blood vessels are involved, arterial stenosis and ectasia are seen. An understanding of the pathophysiology of sickle cell disease and knowledge of the various clinical and radiologic manifestations are crucial for prompt diagnosis and appropriate treatment. PMID:20631366

Saito, Naoko; Nadgir, Rohini N; Flower, Elisa N; Sakai, Osamu

2010-01-01

421

Bovine tuberculosis: an old disease but a new threat to Africa.  

PubMed

Bovine tuberculosis (TB) is a disease characterised by progressive development of specific granulomatous lesions or tubercles in lung tissue, lymph nodes or other organs. Mycobacterium bovis is the causative agent of the disease. Bovine species, including bison and buffaloes, are susceptible to the disease, but nearly all warm-blooded animals can be affected. All species are not equally susceptible to the disease; some are spill-over (end) hosts and others maintenance hosts. In Africa, bovine TB primarily affects cattle; however, infection in other farm and domestic animals, such as sheep, goats, pigs, dogs and cats, is not uncommon. Wild ruminants and carnivores are also affected and are the natural reservoirs of the infectious agent in the wild. Man is also susceptible to the disease, the highest risk groups being individuals with concomitant HIV/AIDS infection. In Africa, human TB is widely known to be caused by M. tuberculosis; however, an unknown proportion of cases are due to M. bovis. This infection in humans is under-reported as a result of the diagnostic limitations of many laboratories in distinguishing M. bovis from M. tuberculosis. None of the national reports submitted to the OIE and WHO by African member states mention the importance of M. bovis in human TB cases. Consumption of unpasteurised milk and poorly heat-treated meat and close contact with infected animals represent the main sources of infection for humans. This review attempts to examine the impact of bovine TB on the health of animals and humans. PMID:15305473

Ayele, W Y; Neill, S D; Zinsstag, J; Weiss, M G; Pavlik, I

2004-08-01

422

Lyme Disease and Pregnancy  

PubMed Central

Lyme disease is the most commonly transmitted vector-borne disease in the United States, with many regions of the country at risk. Like other spirochete-borne infections, Lyme disease progresses in stages, making diagnosis in the early stages of the illness and prompt treatment important for cure. An early diagnosis is made difficult by the less-than-ideal serologic tests and the varied clinical presentations of the disease. Although Lyme disease has been reported in pregnancy, the transmission rate to the fetus and potential harmful effects are largely unknown. This review discusses the diagnosis, clinical course, and treatment of Lyme disease with an emphasis on the pregnant patient. PMID:18476053

Cox, Susan M.

1995-01-01

423

Epidemiology: Understanding Disease Spread  

NSDL National Science Digital Library

Factors that influence disease spread throughout populations can be explored with the program Epidemiology. Both population and disease characteristics can be modeled over different time periods. The Susceptible- Infected- Recovered (SIR) model enables us to make predictions based on significant variables such as the flow of new susceptibles in to the population, transmission rates, disease deaths, and the duration of the disease. Ebola is used as a model organism and epidemiology is presented from both a microbiological and social perspective. * build epidemiological models of different diseases, design strategies for disease control, and test the effectiveness of these strategies on virtual populations

Marion Fass (Beloit College;Biology)

2006-05-20

424

Localization of coronary artery disease with exercise electrocardiography: correlation with thallium-201 myocardial perfusion scanning  

SciTech Connect

In 61 patients with single vessel coronary artery disease (70 percent or greater obstruction of luminal diameter in only one vessel) and no previous myocardial infarction, the sites of ischemic changes on 12 lead exercise electrocardiography and on thallium-201 myocardial perfusion scanning were related to the obstructed coronary artery. The site of exercise-induced S-T segment depression did not identify which coronary artery was obstructed. In the 37 patients with left anterior descending coronary artery disease S-T depression was most often seen in the inferior leads and leads V4 to V6, and in the 18 patients with right coronary artery disease and in the 6 patients with left circumflex artery disease S-T depression was most often seen in leads V5 and V6. Although S-T segment elevation was uncommon in most leads, it occurred in lead V1 or a VL, or both, in 51 percent of the patients with left anterior descending coronary artery disease. A reversible anterior defect on exercise thallium scanning correlated with left anterior descending coronary artery disease (probability (p) less than 0.0001) and a reversible inferior thallium defect correlated with right coronary or left circumflex artery disease (p less than 0.0001). In patients with single vessel disease, the site of S-T segment depression does not identify the obstructed coronary artery; S-T segment elevation in lead V1 or aVL, or both, identifies left anterior descending coronary artery disease; and the site of reversible perfusion defect on thallium scanning identifies the site of myocardial ischemia and the obstructed coronary artery.

Dunn, R.F.; Freedman, B.; Bailey, I.K.; Uren, R.F.; Kelly, D.T.

1981-11-01

425

Expanded CAG repeats in the murine Huntington's disease gene increases neuronal differentiation of embryonic and neural stem cells.  

PubMed

Huntington's disease is an uncommon autosomal dominant neurodegenerative disorder caused by expanded polyglutamine repeats. Increased neurogenesis was demonstrated recently in Huntington's disease post-mortem samples. In this manuscript, neuronally differentiated embryonic stem cells with expanded CAG repeats in the murine Huntington's disease homologue and neural progenitors isolated from the subventricular zone of an accurate mouse Huntington's disease were examined for increased neurogenesis. Embryonic stem cells with expanded CAG repeats in the murine Huntington's disease homologue were demonstrated to undergo facilitated differentiation first into neural progenitors, then into more mature neurons. Neural progenitor cells isolated from the subventricular zone of a Huntington's disease knock-in animal displayed increased production of neural progenitors and increased neurogenesis. These findings suggested that neuronally differentiating embryonic stem cells with expanded CAG repeats is a reasonable system to identify factors responsible for increased neurogenesis in Huntington's disease. Expression profiling analysis comparing neuronally differentiating embryonic stem cells with expanded CAG repeats to neuronally differentiating embryonic stem cells without expanded CAG repeats identified transcripts involved in development and transcriptional regulation as factors possibly mediating increased neurogenesis in response to expanded CAG repeats. PMID:18625318

Lorincz, Matthew T; Zawistowski, Virginia A

2009-01-01

426

Expanded CAG repeats in the murine Huntington's disease gene increases neuronal differentiation of embryonic and neural stem cells  

PubMed Central

Huntington’s disease is an uncommon autosomal dominant neurodegenerative disorder caused by expanded polyglutamine repeats. Increased neurogenesis was demonstrated recently in Huntington’s disease postmortem samples. In this manuscript, neuronally differentiated embryonic stem cells with expanded CAG repeats in the murine Huntington’s disease homologue and neural progenitors isolated from the subventricular zone of an accurate mouse Huntington’s disease were examined for increased neurogenesis. Embryonic stem cells with expanded CAG repeats in the murine Huntington’s disease homologue were demonstrated to undergo facilitated differentiation first into neural progenitors, then into more mature neurons. Neural progenitor cells isolated from the subventricular zone of a Huntington’s disease knock-in animal displayed increased production of neural progenitors and increased neurogenesis. These findings suggested that neuronally differentiating embryonic stem cells with expanded CAG repeats is a reasonable system in to identify factors responsible for increased neurogenesis in Huntington’s disease. Expression profiling analysis comparing neuronally differentiating embryonic stem cells with expanded CAG repeats to neuronally differentiating embryonic stem cells without expanded CAG repeats identified transcripts involved in development and transcriptional regulation as factors possibly mediating increased neurogenesis in response to expanded CAG repeats. PMID:18625318

Lorincz, Matthew T.; Zawistowski, Virginia A.

2009-01-01

427

A Case of Hypertrophic Cranial Pachymeningitis Presenting with Scleritis in a Patient with Undifferentiated Connective Tissue Disease  

PubMed Central

Hypertrophic cranial pachymeningitis (HCP) is an uncommon disorder that causes a localized or diffuse thickening of the dura mater and has been reported to be infrequently associated with systemic autoimmune disorders such as Wegener's granulomatosis, rheumatoid arthritis, sarcoidosis, Behçet's disease, Sjögren syndrome, and temporal arteritis. Here, we report a case of HCP initially presented with scleritis and headache in a patient with undifferenciated connective tissue disease (UCTD). HCP was initially suspected on brain magnetic resonance imaging and defined pathologically on meningial biopsy. Immunologic studies showed the presence of anti-RNP antibody. After high dose corticosteroid therapy, the patient's symptoms and radiologic abnormalities of brain were improved. Our case suggested that HCP should be considered in the differential diagnosis of headache in a patient with UCTD presenting with scleritis. PMID:20514324

Kim, Ji-Hyeon; Joo, Young-Bin; Kim, Jeana

2010-01-01

428

Pediatric inflammatory bowel disease  

PubMed Central

Inflammatory bowel disease is an important cause of gastrointestinal pathology in children and adolescents. The incidence of pediatric inflammatory bowel disease is increasing; therefore, it is important for the clinician to be aware of the presentation of this disease in the pediatric population. Laboratory tests, radiology studies, and endoscopic procedures are helpful in diagnosing inflammatory bowel disease and differentiating between Crohn’s disease and ulcerative colitis. Once diagnosed, the goal of medical management is to induce remission of disease while minimizing the side effects of the medication. Specific attention needs to be paid to achieving normal growth in this susceptible population. Surgical management is usually indicated for failure of medical management, complication, or malignancy. Algorithms for diagnostic evaluation and treatment of pediatric inflammatory bowel disease are presented. The specific psychosocial issues facing these patients are also discussed in this review as are the future goals of research in the complex problem of pediatric inflammatory bowel disease. PMID:16718840

Diefenbach, Karen A; Breuer, Christopher K

2006-01-01

429

Genetics and Lung Disease  

MedlinePLUS

... Society What should I know about genetics and lung disease? If you compare the genes of a group ... your risk of getting asthma. For a few lung diseases, genes play a much bigger role. These are ...

430

Parkinson's Disease Videos  

MedlinePLUS Videos and Cool Tools

... University of Pennsylvania What is the relationship between depression and Parkinson's disease? Michael J. Aminoff, MD University ... treatments exist for Parkinson's disease patients with a depression diagnosis? Michael J. Aminoff, MD University of California- ...

431

Pediatric Celiac Disease  

MedlinePLUS

... serious condition caused by a permanent intolerance for gluten--a protein found in wheat, rye, and barley. ... Disease If your child has celiac disease, consuming gluten will cause damage to finger-like projections, called ...

432

Fibrocystic breast disease  

MedlinePLUS

Fibrocystic breast disease; Mammary dysplasia; Diffuse cystic mastopathy; Benign breast disease; Glandular breast changes ... made in the ovaries may make a woman's breasts feel swollen, lumpy, or painful before or during ...

433

Digestive Diseases Statistics  

MedlinePLUS

... 263 KB) * Also see: Celiac Disease Diverticular Disease Hemorrhoids Irritable Bowel Syndrome The Digestive System and How ... deaths (2011) 16 Prescriptions: 938,000 (2004) 8 Hemorrhoids Prevalence: 75 percent of people older than 45 ( ...

434

Living with Kawasaki Disease  

MedlinePLUS

... Tumblr. Share this page from the NHLBI on Twitter. Living With Kawasaki Disease Most children who have Kawasaki disease recover—usually within weeks of getting symptoms. Further problems are rare. Early treatment reduces the risk of ...

435

Lyme Disease and Animals  

MedlinePLUS

... Page last updated: April 30, 2014 Content source: Centers for Disease Control and Prevention Home A-Z Index Policies Using this Site Link to Us Contact CDC Centers for Disease Control and Prevention 1600 Clifton Road ...

436

Women and Vascular Disease  

MedlinePLUS

... Radiology Minimally Invasive Treatments Snapshots Multimedia Multimedia Archive Women and Vascular Disease Early Warning Symptom for the #1 Killer of Women Is Under-recognized Heart disease is the #1 ...

437

Celiac Disease Tests  

MedlinePLUS

... What is being tested? Celiac disease is an autoimmune disorder characterized by an inappropriate immune response to gluten, ... to help diagnose and monitor celiac disease , an autoimmune disorder caused by an inappropriate immune response to gluten, ...

438

Chronic Beryllium Disease  

MedlinePLUS

... LS. Epidemiology of beryllium sensitizations and disease in nuclear workers. Am Rev Respir Dis 1993; 148:985- ... chronic beryllium disease. In: Rossman MD, Preuss OP, Powers MB, eds. Beryllium: Biomedical and Environmental Aspects. Baltimore: ...

439

Niemann-Pick Disease  

MedlinePLUS

... a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, ... body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow, ...

440

Celiac disease - sprue  

MedlinePLUS

Celiac disease is a condition that creates inflammation in the small intestine, and damage in the lining. This ... The exact cause of celiac disease is unknown. The lining of the ... called villi. These structures help absorb nutrients. When ...

441

Chronic granulomatous disease  

MedlinePLUS

CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis ... Chronic granulomatous disease (CGD) is a genetic disorder in which certain immune system cells are unable to kill some ...

442

Are all diseases infectious?  

PubMed

The complex interactions between microorganisms and human hosts include the well-known, traditional infectious diseases and the symbiotic relation we have with our normal flora. The media have brought to the public's attention many newly described infectious diseases, such as Ebola virus hemorrhagic fever, that were not part of common medical parlance a decade ago. While flooding us with interesting and often dramatic reports of so-called emerging infectious diseases, the media have largely ignored a more fundamental change in our appreciation of human-microorganism interactions: the discovery that transmissible agents may play important roles in diseases not suspected of being infectious in origin. A well-known example is ulcer disease; other examples include neurodegenerative disease, inflammatory disease, and cancer. These fascinating instances of host-pathogen interaction open new prospects for the prevention of disease through immunization. PMID:8928993

Lorber, B

1996-11-15

443

Diet - liver disease  

MedlinePLUS

DeLegge MH. Nutrition in gastrointestinal diseases. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease . 9th ed. Philadelphia, Pa: Saunders Elsevier; ...

444

About Thyroid Disease  

Cancer.gov

Noncancerous Thyroid DiseaseSome thyroid diseases are caused by changes in the amount of thyroid hormones that enter the body from the thyroid gland. Doctors can screen for these with a simple blood test.

445

Progression of Liver Disease  

MedlinePLUS

... Handouts Education Resources Support Services Helpful Links For Liver Health Information Call 1-800-GO-LIVER (1- ... The Progression of Liver Disease The Progression of Liver Disease There are many different types of liver ...

446

Diabetes and kidney disease  

MedlinePLUS

Kidney disease or kidney damage that occurs in people with diabetes is called diabetic nephropathy. This condition is ... who have more severe and long-term (chronic) kidney disease may have symptoms such as: Fatigue most of ...

447

Carotid artery disease  

MedlinePLUS

... 2 years. If you have high blood pressure, heart disease, diabetes, or you have had a stroke, you need ... treatment recommendations if you have high blood pressure, diabetes, high cholesterol, or heart disease.

448

Hemochromatosis: Iron Storage Disease  

MedlinePLUS

... What's this? Submit Button CDC Features Hemochromatosis: Iron Storage Disease Language: English Español (Spanish) Share Compartir Excessive ... Learn more about hemochromatosis, a type of iron storage disease, and stay healthy. What Is Hemochromatosis? Hemochromatosis ...

449

Peripheral Arterial Disease  

MedlinePLUS

... risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, heart disease, ... legs Erectile dysfunction, especially among men who have diabetes PAD can increase your risk of heart attack, ...

450

Diseases and Conditions  

MedlinePLUS

... Conditions Public Health Public Health Public Health Home Military Exposures Military Exposures Home 4 Ways to Find Exposures Related ... Studies Publications & Reports Diseases & Conditions Diseases & Conditions Index Military Exposure Related Health Concerns Gulf War Veterans' Illnesses ...

451

Hypothyroidism and Heart Disease  

MedlinePLUS

... SITE › Hypothyroidism and Heart Disease Share: Fact Sheet Hypothyroidism and Heart Disease January 2014 Download PDFs English ... nervous system, body temperature, and weight. What is hypothyroidism and what are its symptoms? Hypothyroidism, also called ...

452

Pregnancy and Fifth Disease  

MedlinePLUS

... Cheek Rash Parvovirus B19 and Other Illnesses References Pregnancy and Fifth Disease On this Page Testing for ... with fifth disease. Testing for Parvovirus B19 During Pregnancy A blood test for parvovirus B19 can show ...

453

Alzheimer's Disease Research Centers  

MedlinePLUS

... Ph.D., Director Alzheimer's Disease Center Department of Pathology and Laboratory Medicine University of Pennsylvania School of ... Alzheimer's Disease Center Harborview Medical Center Department of Pathology 325 9th Avenue Seattle, WA 981084 Website: http:// ...

454

Genetics and Neuromuscular Diseases  

MedlinePLUS

Facts About Genetics and Neuromuscular Diseases Updated December 2009 2 Genetics and Neuromuscular Diseases • ©2011 MDA Dear Friends: M ost of ... appeared. What kind of sample is needed for genetic testing? Usually, only a blood sample is needed, ...

455

Working Memory in Mild Alzheimer's Disease and Early Parkinson's Disease  

E-print Network

Working Memory in Mild Alzheimer's Disease and Early Parkinson's Disease Elizabeth A. Kensinger of Technology Alzheimer's disease (AD) and Parkinson's disease (PD) impair working memory (WM). It is unclear an expanding interest in how neurological diseases such as Alzheimer's disease (AD) and Parkinson's disease (PD

Corkin, Suzanne

456

Parallelization: Infectious Disease  

NSDL National Science Digital Library

Epidemiology is the study of infectious disease. Infectious diseases are said to be "contagious" among people if they are transmittable from one person to another. Epidemiologists can use models to assist them in predicting the behavior of infectious diseases. This module will develop a simple agent-based infectious disease model, develop a parallel algorithm based on the model, provide a coded implementation for the algorithm, and explore the scaling of the coded implementation on high performance cluster resources.

Weeden, Aaron

457

Heart Disease in Women  

MedlinePLUS

... United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing ... the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and ...

458

Smoking and Parkinson's disease  

Microsoft Academic Search

In a case control study of the relationship between smoking habits and Parkinson's disease a negative association was demonstrated with a relative risk of 0 x 52. A history of smoking up to 20 years earlier was associated with a risk of developing Parkinson's disease equal to about half that in non-smokers. The type of disease, age of onset and

R B Godwin-Austen; P N Lee; M G Marmot; G M Stern

1982-01-01

459

The human disease network  

Microsoft Academic Search

A network of disorders and disease genes linked by known disordergene associations offers a platform to explore in a single graphtheoretic framework all known phenotype and disease gene associations, indicating the common genetic origin of many diseases. Genes associated with similar disorders show both higher likelihood of physical interactions between their products and higher expression profiling similarity for their transcripts,

Kwang-Il Goh; M. E. Cusick; David Valle; Barton Childs; Marc Vidal; A.-L. Barabasi

2007-01-01

460

Mosaic Disease in Plants  

Microsoft Academic Search

THERE has been considerable speculation recently upon the cause of the so-called ``virus diseases,'' which occur in both animals and plants, such as typhus and Rocky Mountain fever in man, and ``mosaic'' disease in plants. These diseases are supposed to be due to the presence of some ultramicroscopic filter-passing organism. Many small bodies, some of a granular nature, have been

Kenneth M. Smith

1922-01-01

461

Metastatic Crohn's disease  

PubMed Central

Crohn's disease, first described in 1922, is characterized by segmental granulomatous inflammation of the intestinal tract and frequently involves the cutaneous tissues as well. Cutaneous Crohn's disease (CCD) is synonymous with metastatic Crohn's disease (MSD). A case of CCD, without any gastrointestinal involvement is reported for its rarity. PMID:24616854

Lanka, Padmavathy; Lanka, Lakshmana Rao; Sylvester, N.; Lakshmi, M. Dhana; Ethirajan, N.

2014-01-01

462

Diabetes and Heart Disease  

MedlinePLUS

MENU Return to Web version Diabetes | Diabetes and Heart Disease What does diabetes have to do with heart disease? People who ... the weight you need to. Remember: Diabetes and heart disease are related. Diabetes, being overweight and having high blood pressure are ...

463

Newcastle disease vaccines  

Microsoft Academic Search

Newcastle disease (ND) is a worldwide problem with severe economic implications, affecting chickens, turkeys and other birds. Newcastle disease virus (NDV), a member of the Paramyxoviridae group can cause disease of diverse severity in accordance with environmental factors. NDV strains are classified according to their virulence into three categories. The lentogenic strains are very mild and naturally inhabit healthy flocks.

Gilad E. Gallili; David Ben-Nathan

1998-01-01

464

16. Immunologic lung disease  

Microsoft Academic Search

This review summarizes the recent advances regarding pathogenesis, diagnosis, and treatment of immunological diseases of the lung. Rather than attempt a comprehensive analysis, we have focused on selected diseases that are of particular relevance to the practicing physician, and the material has been organized according to the dominant immunologic mechanisms underlying the disease. Because of the redundancy that characterizes the

Joseph E. Prince; Farrah Kheradmand; David B. Corry

2003-01-01

465

Menopause and Heart Disease  

MedlinePLUS

Menopause and Heart Disease Updated:Oct 1,2013 Heart disease risk rises for everyone as they age, but for women symptoms can ... women is seen about 10 years after menopause. Heart disease is the leading killer of women . Estrogen Levels ...

466

Women and Heart Disease  

MedlinePLUS

Women & Heart Disease Things you need to know Talk to your doctor about heart disease It’s important to ask your doctor about your ... you can do to lower your risk for heart disease Keep a healthy... 1. Blood pressure 2. Cholesterol ...

467

Primary hyperparathyroidism from a probable ectopic parathyroid adenoma with severe skeletal disease and vitamin D deficiency.  

PubMed

Primary hyperparathyroidism (PHPT) may lead to skeletal deformities, fractures and renal failure in symptomatic patients if untreated. We present a case of a 30-year-old woman presented with muscle weakness, weight loss, hypercalcaemia and a pathological fracture, eventually with rapidly progressive musculoskeletal disease. Subsequent biochemical, radiographic and scintigraphy findings were consistent with PHPT from an ectopic mediastinal adenoma, and concomitant vitamin D deficiency. The severe hypercalcaemia was adequately temporised with hydration, forced diuresis and intravenous bisphosphonates. Removal of the adenoma by video-assisted thoracoscopic surgery was contemplated; however, consent was withdrawn precluding histological confirmation. A review of literature shows the changing profiles of patients with PHPT, the uncommon occurrence of parathyroid adenomas in ectopic locations and possible association between severity of PHPT and vitamin D status. PMID:24632909

Garingarao, Carlo Jan P; Paz-Pacheco, Elizabeth; Jimeno, Cecilia A

2014-01-01

468

Bile acid synthetic defects and liver disease: a comprehensive review.  

PubMed

Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. The associated liver diseases may be life threatening, and are treatable, usually by replacement of deficient primary bile acids. Specific diagnosis is made by analysis of body fluids (bile, blood, and urine) using fast atom bombardment-mass spectroscopy (FAB-MS) and gas chromatography-mass spectroscopy (GC-MS). Inborn errors have been demonstrated for four single enzymes involved in modification of the sterol nucleus and in five steps in modification of the side-chain to form cholic and chenodeoxycholic acids, the primary bile acids. With few exceptions, BASD cause liver diseases that vary from severe to mild depending on the defect. In three of four known defects of sterol nucleus modification, liver disease is progressive. Progression of liver disease is most rapid when the defect results in accumulation of toxic monohydroxy and unsaturated oxo-bile acids. Liver disease may be transient, delayed in onset and mild. Reduced bile flow caused by atypical bile acids contributes to cholestasis and may be the dominant factor in defects of side-chain synthesis, peroxisomal abiogenesis and S-L-O syndrome. Pathological findings may include intralobular cholestasis with giant cell transformation, prevalence of necrotic hepatocytes including giant cell forms, and hepatitic injury confined to the portal limiting plate where the smallest bile ductules may be injured and where fibrosis typically develops. Interlobular bile ducts are usually spared. Ultrastructure of liver reveals nonspecific changes with the possible exception of unusual canalicular morphology in some defects. The course of BASD may be modified by replacement of deficient primary bile acids, which produces beneficial feedback inhibition of abnormal bile acid production and enhances choluresis. Giant cell transformation is present in all symptomatic infants with BASD and seems to have a more consistent association with BASD than with the many other liver diseases in infants where it occurs. We hypothesize that immature hepatocytes of infants may fuse to form multinucleate hepatocytes whenever atypical or toxic bile acids are present and the pool of normal bile acids is critically reduced. PMID:15383928

Bove, Kevin E; Heubi, James E; Balistreri, William F; Setchell, Kenneth D R

2004-01-01

469

Environmental disease: environmental alteration and infectious disease  

Microsoft Academic Search

Humans have changed their environment to survive and to achieve a safer and more comfortable life. For example, drinking water\\u000a and wastewater infrastructures are indispensable for civilized societies to flourish and to prevent water-borne infectious\\u000a diseases. However, excessive loading on environments might disturb microbial ecosystems, resulting in outbreaks of pathogenic\\u000a microbes and the expansion of infectious diseases. Clarifying the relationship

Nobuyasu Yamaguchi; Tomoaki Ichijo; Masao Nasu

470

Behçet's disease as a systemic disease.  

PubMed

Behçet's disease usually begins with cutaneous manifestations, such as recurrent aphthous stomatitis, genital ulcers, erythema nodosum-like lesions, papulopustular findings, and pathergy phenomenon. Recurrent aphthous stomatitis is generally the first sign, and other findings may develop in the course of the disease. There is no specific diagnostic available for Behçet's disease. It is most prevalent among patients along the ancient Silk Road. The high frequency of HLA-B51 among a wide range of ethnic populations favors the role of genetic factors. Behçet's disease usually appears in the third to fourth decade of life, and is rarely seen in children and adults over 50 years of age. It affects both genders equally, but the course of the disease is more severe in men. Eye involvement leading to loss of vision, plus vascular, articular, and central nervous system involvement are more commonly observed among men. Behçet's disease is a systemic inflammatory disorder. A complex genetic background, coupled with innate and adaptive immune system activation, causes the diverse clinical manifestations that characterize the clinical picture. PMID:24767193

Mat, M Cem; Sevim, Ay?egül; Fresko, Izzet; Tüzün, Yalç?n

2014-01-01

471

Hair disorders associated with autoimmune connective tissue diseases.  

PubMed

Hair disorders are frequently observed in various systemic diseases, including autoimmune connective tissue diseases (CTDs), with predilection of lupus erythematosus (LE), followed by dermatomyositis (DM) and scleroderma. Hair disorders in CTDs may manifest as various clinical patterns, such as telogen hair loss, diffuse thinning or fragility of hair, and scarring alopecia. Less common hair disorders include anagen effluvium, alopecia areata, and trichomegaly. Some drugs used to treat CTDs may cause hair loss in a drug-related manner or hyperthrichosis. In the assessment of common hair loss patterns, such as telogen effluvium, the possible association with CTDs must be borne in mind and should not be overlooked. Alopecia appears to be a significant sign in the course of LE and especially systemic LE. In DM, the involvement of the scalp is common, and is often characterized by a diffuse, violaceous, scaly, non-scarring and symptomatic hair loss. Linear scleroderma en coup de sabre is an uncommon localized form of morphea with involvement of the paramedian forehead and frontal scalp, where it is associated with cicatricial alopecia. The most important variant of scarring alopecia in the context of CTDs is that associated with discoid lupus erythematosus (DLE). In the diagnostic work-up of DLE-related cicatrical alopecia, histopathological and immunopathological studies are useful, and a relevant role has been attributed to dermatoscopy (trichoscopy) over the last years. Hair loss has been reported in several other CTDs, including mixed and undifferentiated CTDs, and primary Sjögren's syndrome, although it is likely to be underestimated in such diseases. PMID:24975949

Cassano, N; Amerio, P; D'Ovidio, R; Vena, G A

2014-10-01

472

Genetics Home Reference: Pompe disease  

MedlinePLUS

... treatment providers. Baby's First Test Gene Review: Glycogen Storage Disease Type II (Pompe Disease) Genetic Testing Registry: Glycogen storage disease, type II You might also find information ...

473

Protein-losing enteropathy: integrating a new disease paradigm into recommendations for prevention and treatment.  

PubMed

Protein-losing enteropathy is a relatively uncommon complication of Fontan procedures for palliation of complex congenital cardiac disease. However, the relative infrequency of protein-losing enteropathy belies the tremendous medical, psychosocial and financial burdens it places upon afflicted patients, their families and the healthcare system that supports them. Unfortunately, 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. The most comprehensive analyses of protein-losing enteropathy in this patient population are now over a decade old, and re-evaluation of the prevalence and progress in treatment of this disease is needed. This report describes a single institution experience with the evaluation, management, and treatment of protein-losing enteropathy in patients with congenital cardiac disease in the current era, follows with a comprehensive review of protein-losing enteropathy, focused upon what is known and not known about the pathophysiology of protein-losing enteropathy in this patient population, and concludes with suggestions for prevention and treatment. PMID:21349233

Meadows, Jeffery; Jenkins, Kathy

2011-08-01

474

Tissue loss (white syndrome) in the coral Montipora capitata is a dynamic disease with multiple host responses and potential causes  

USGS Publications Warehouse

Tissue loss diseases or white syndromes (WS) are some of the most important coral diseases because they result in significant colony mortality and morbidity, threatening dominant Acroporidae in the Caribbean and Pacific. The causes of WS remain elusive in part because few have examined affected corals at the cellular level. We studied the cellular changes associated with WS over time in a dominant Hawaiian coral, Montipora capitata, and showed that: (i) WS has rapidly progressing (acute) phases mainly associated with ciliates or slowly progressing (chronic) phases mainly associated with helminths or chimeric parasites; (ii) these phases interchanged and waxed and waned; (iii) WS could be a systemic disease associated with chimeric parasitism or a localized disease associated with helminths or ciliates; (iv) corals responded to ciliates mainly with necrosis and to helminths or chimeric parasites with wound repair; (v) mixed infections were uncommon; and (vi) other than cyanobacteria, prokaryotes associated with cell death were not seen. Recognizing potential agents associated with disease at the cellular level and the host response to those agents offers a logical deductive rationale to further explore the role of such agents in the pathogenesis of WS in M. capitata and helps explain manifestation of gross lesions. This approach has broad applicability to the study of the pathogenesis of coral diseases in the field and under experimental settings.

Work, Thierry M.; Russell, Robin; Aeby, Greta S.

2012-01-01

475

Tissue loss (white syndrome) in the coral Montipora capitata is a dynamic disease with multiple host responses and potential causes  

PubMed Central

Tissue loss diseases or white syndromes (WS) are some of the most important coral diseases because they result in significant colony mortality and morbidity, threatening dominant Acroporidae in the Caribbean and Pacific. The causes of WS remain elusive in part because few have examined affected corals at the cellular level. We studied the cellular changes associated with WS over time in a dominant Hawaiian coral, Montipora capitata, and showed that: (i) WS has rapidly progressing (acute) phases mainly associated with ciliates or slowly progressing (chronic) phases mainly associated with helminths or chimeric parasites; (ii) these phases interchanged and waxed and waned; (iii) WS could be a systemic disease associated with chimeric parasitism or a localized disease associated with helminths or ciliates; (iv) corals responded to ciliates mainly with necrosis and to helminths or chimeric parasites with wound repair; (v) mixed infections were uncommon; and (vi) other than cyanobacteria, prokaryotes associated with cell death were not seen. Recognizing potential agents associated with disease at the cellular level and the host response to those agents offers a logical deductive rationale to further explore the role of such agents in the pathogenesis of WS in M. capitata and helps explain manifestation of gross lesions. This approach has broad applicability to the study of the pathogenesis of coral diseases in the field and under experimental settings. PMID:22951746

Work, Thierry M.; Russell, Robin; Aeby, Greta S.

2012-01-01

476

Genetics of Proteasome Diseases  

PubMed Central

The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (?8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit. PMID:24490108

Gomes, Aldrin V.

2013-01-01

477

Genetics of proteasome diseases.  

PubMed

The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (-8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit. PMID:24490108

Gomes, Aldrin V

2013-01-01

478

Epigenetic Inheritance of Disease and Disease Risk  

PubMed Central

Epigenetic marks in an organism can be altered by environmental factors throughout life. Although changes in the epigenetic code can be positive, some are associated with severe diseases, in particular, cancer and neuropsychiatric disorders. Recent evidence has indicated that certain epigenetic marks can be inherited, and reshape developmental and cellular features over generations. This review examines the challenging possibility that epigenetic changes induced by environmental factors can contribute to some of the inheritance of disease and disease risk. This concept has immense implications for the understanding of biological functions and disease etiology, and provides potential novel strategies for diagnosis and treatment. Examples of epigenetic inheritance relevant to human disease, such as the detrimental effects of traumatic stress or drug/toxic exposure on brain functions, are reviewed. Different possible routes of transmission of epigenetic information involving the germline or germline-independent transfer are discussed, and different mechanisms for the maintenance and transmission of epigenetic information like chromatin remodeling and small noncoding RNAs are considered. Future research directions and remaining major challenges in this field are also outlined. Finally, the adaptive value of epigenetic inheritance, and the cost and benefit of allowing acquired epigenetic marks to persist across generations is critically evaluated. PMID:22781843

Bohacek, Johannes; Mansuy, Isabelle M

2013-01-01

479

Unicentric mixed variant Castleman disease associated with intrabronchial plasmacytoma  

PubMed Central

Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2872096831190851. Castleman disease (CD), described as a heterogeneous lymphoproliferative disorder, can be divided into different subtypes according to clinical appearance (unicentric and multicentric form) and histopathological features (hyaline vascular, plasma cell, mixed type, human herpesvirus 8–associated and multicentric not otherwise specified). Unicentric CD is known to be usually of the hyaline vascular variant, plasma cell and mixed type of this form are quite uncommon. Malignancies are mainly associated with the multicentric form. We report a rare case of unicentric mixed variant CD evolving into intrabronchial, extramedullary plasmacytoma. Intrabronchial mass with consequential obstruction of the left main bronchus, left lung atelectasis and mediastinal lymphadenomegaly was detected by chest CT in our patient suffering from cough and hemoptysis. Pulmonectomy was performed, histopathological and immunhistochemical analysis of lymph nodes revealed mixed type of CD with interfollicular monotypic plasma cell proliferation. The intrabronchial mass consisted of monotypic plasma cells confirming plasmacytoma. Systemic involvement was not confirmed by further tests. Although malignancies more often present in multicentric CD that usually belongs to the plasma cell subtype, this case confirms the neoplastic potential of the rarest, unicentric mixed variant of CD. PMID:24649966

2014-01-01

480

Macrolides: A Canadian Infectious Disease Society position paper  

PubMed Central

Since the introduction of erythromycin in 1965, no new compounds from the macrolide antimicrobial class were licensed in Canada until the 1990s. Clarithromycin and azithromycin, since their introduction, have become important agents for treating a number of common and uncommon infectious diseases. They have become prime agents in the treatment of respiratory tract infections, and have revolutionized the management of both genital chlamydial infections, by the use of single-dose therapy with azithromycin, and nontuberculous mycobacterial infections, by the use of clarithromycin. The improvement of clarithromycin and azithromycin over the gastrointestinal intolerability of erythromycin has led to supplanting the use of the latter for many primary care physicians. Unfortunately, the use of these agents has also increased the likelihood for misuse and has raised concerns about a resultant increase in the rates of macrolide resistance in many important pathogens, such as Streptococcus pneumoniae. This paper reviews the pharmacology and evidence for the current indications for use of these newer agents, and provides recommendations for appropriate use. PMID:18159344

McKenna, S; Evans, GA

2001-01-01

481

Graft versus host disease following liver transplantation: A case report  

PubMed Central

Graft versus host disease (GVHD) is an uncommon complication following liver transplantation. In the present case report, a 53-year-old male hepatitis B virus carrier was diagnosed with primary liver cancer with post-hepatitis cirrhosis. Preoperative cytomegalovirus (CMV), Epstein-Barr virus, coxsackievirus, herpes simplex virus and autoimmune antibody series were negative. Preoperative human leukocyte antigen type was also negative. Following classic orthotropic liver transplantation, postoperative treatment included immunosuppression therapy, infection protection, anti-human immunodeficiency virus therapy and CMV infection protection therapy. Chemotherapy was initiated at day 16 following surgery. At day 26 following the transplantation, the patient developed a fever of unknown cause, and a scattered red rash was observed behind the left ear and on the neck. The patient presented with a fever of unknown cause, rash, symptoms of the digestive tract, leukocytopenia and pancytopenia. A diagnosis of GVHD was confirmed following a skin biopsy. Symptomatic therapies, including antivirals, anti-anaphylaxis drugs and steroids were administered. However, the patient succumbed to infection, acute respiratory distress syndrome and multiple organ failure at day 46 following surgery. Therefore, an effective therapeutic strategy for the treatment of GVHD following liver transplantation is yet to be established, and further research is required prior to such a regimen being developed.

ZHANG, CHANGSONG; YANG, GUANGSHUN; LING, YANG; CHEN, GUIHUA; ZHOU, TIANBAO

2014-01-01

482

Reprint of "heated vegetable oils and cardiovascular disease risk factors".  

PubMed

Cardiovascular disease (CVD) is one of the leading major causes of morbidity and mortality worldwide. It may result from the interactions between multiple genetic and environmental factors including sedentary lifestyle and dietary habits. The quality of dietary oils and fats has been widely recognised to be inextricably linked to the pathogenesis of CVD. Vegetable oil is one of the essential dietary components in daily food consumption. However, the benefits of vegetable oil can be deteriorated by repeated heating that leads to lipid oxidation. The practice of using repeatedly heated cooking oil is not uncommon as it will reduce the cost of food preparation. Thermal oxidation yields new functional groups which may be potentially hazardous to cardiovascular health. Prolonged consumption of the repeatedly heated oil has been shown to increase blood pressure and total cholesterol, cause vascular inflammation as well as vascular changes which predispose to atherosclerosis. The harmful effect of heated oils is attributed to products generated from lipid oxidation during heating process. In view of the potential hazard of oxidation products, therefore this review article will provide an insight and awareness to the general public on the consumption of repeatedly heated oils which is detrimental to health. PMID:24846858

Ng, Chun-Yi; Leong, Xin-Fang; Masbah, Norliana; Adam, Siti Khadijah; Kamisah, Yusof; Jaarin, Kamsiah

2014-07-01

483

Chronic Obstructive Pulmonary Disease (COPD)  

MedlinePLUS

MENU Return to Web version Chronic Obstructive Pulmonary Disease (COPD) Overview What is chronic obstructive pulmonary disease (COPD)? Chronic obstructive pulmonary disease (also called COPD) is a lung disease that makes it ...

484

Chronic Obstructive Pulmonary Disease (COPD)  

MedlinePLUS

... treated? Learn More What is COPD? Chronic Obstructive Pulmonary Disease, or COPD, refers to a group of diseases ... Centers for Disease Control and Prevention. Chronic obstructive pulmonary disease among adults—United States, 2011. MMWR . 2012;61( ...

485

National Foundation for Infectious Diseases  

MedlinePLUS

About NFID Contact Us NFID Store Home Infectious Disease Information Infectious Disease Information Chickenpox (Varicella) Diphtheria Ebola Hepatitis A Hepatitis B Hib Disease HPV (Human Papillomavirus) Influenza (Flu) MRSA Measles Meningococcal Disease ...

486

Heart disease in pregnancy: ischaemic heart disease.  

PubMed

Coronary artery disease and in particular acute coronary syndromes in pregnancy are increasing with high risk of mortality and significant morbidity. Whilst women with atherosclerotic risk factors are at greater risk of developing problems in pregnancy, it is important to remember that women can develop problems even in the absence of atherosclerosis-secondary to thrombosis or coronary dissection. A low threshold to investigate women with chest pain is paramount, and women with raised troponin levels should be investigated seriously. Acute coronary syndromes should be managed using an invasive strategy where possible and women should not have coronary angiography withheld for fear of foetal harm. This article aims to review the limited available data of coronary artery disease in pregnancy and give practical advice on the management of stable and acute coronary disease, with particular emphasis on the latter. PMID:24794768

Fryearson, John; Adamson, Dawn L

2014-05-01

487