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1

Treatment of Schamberg's disease with advanced fluorescence technology.  

PubMed

Schamberg's disease is a pigmented purpuric dermatosis that is generally asymptomatic, however, patients with Schamberg's disease often seek treatment for aesthetic improvement. Many topical and systemic therapies have been tried without consistent results. This case series describes the treatment of five patients with Schamberg's disease of the lower extremities using Advanced Fluorescence Technology (AFT) pulsed light with favorable results. PMID:22453593

Manolakos, Danielle A; Weiss, Jonathan; Glick, Brad; Weiss, Kthleen D; Weiss, Eduardo

2012-04-01

2

Renal transplantation for uncommon diseases  

Microsoft Academic Search

including haemolytic-uraemic syndrome, cyclosporinaged 15-55 years with the exception of SLE and nephrotoxicity, Fabry's disease, Alport's syndrome and Goodpasture's syndrome where it is 15-50 years. A reduced hyperoxaluria. This report focuses on renal transplant upper limit was chosen for these two diseases as they tend experience in five diseases, systemic lupus eryth- to occur in a younger age group. For

J. Douglas Briggs; Elizabeth Jones

1999-01-01

3

Uncommon features of abdominal aortoiliac disease  

Microsoft Academic Search

This pictorial review illustrates the cross-sectional imaging of several less common manifestations of aortoiliac disease. Despite their varying clinical features, the imaging appearances with ultrasound, CT and MRI will allow a correct assessment in most cases. As atherosclerosis and its inherent compli- dierent EDS subtypes, the type most likely to cations (Figure 1) are less common in the Chinese give

J F GRIFFITH; W T YANG; W W M LAM; C METREWELI

4

Kümmell's disease, an uncommon and complicated spinal disorder: a review.  

PubMed

Kümmell's disease is an uncommon and complicated spinal condition first described in 1891. Patients develop a kyphosis in the lower thoracolumbar spinal region months to years after sustaining an otherwise asymptomatic minor spinal trauma. The patho physiology, clinical presentation, imaging and treatment options of this disease remain controversial. The most widely accepted hypothetical patho physiology is avascular osteonecrosis. The intravertebral vacuum cleft phenomenon is considered a radiographic sign of avascular osteonecrosis of the vertebral body and is highly suggestive of Kümmell's disease. Treatment options include nonsurgical and surgical treatment, and percutaneous vertebral augmentation. The primary aims of surgical treatment of Kümmell's disease are neural decompression and stabilization of the spinal column. Surgery can involve an anterior, posterior, or combined anterior and posterior approach. Surgery and percutaneous vertebral augmentation provide significant symptomatic relief, functional improvement and deformity correction. Treatment of this disease must be individualized according to the stage of disease and the experience and preference of the surgeon. PMID:22613401

Li, H; Liang, C-Z; Chen, Q-X

2012-01-01

5

Crohn's disease and Takayasu's arteritis: An uncommon association.  

PubMed

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

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

2013-09-21

6

Crohn's disease and Takayasu's arteritis: An uncommon association  

PubMed Central

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

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

2013-01-01

7

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.

Beebe, J L; Koneman, E W

1995-01-01

8

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

PubMed Central

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

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

2011-01-01

9

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

Microsoft Academic Search

Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the glucocerebrosidase gene and identified an uncommon

Francis Y. M. Choy; Chao Wei; Derek A. Applegarth; Barbara C. McGillivray

1994-01-01

10

Hodgkin lymphoma in older patients: an uncommon disease in need of study.  

PubMed

Elderly Hodgkin lymphoma (HL), commonly defined as occuring in patients over 60 to 65 years of age, is an uncommon disease. In population-based studies, the proportion of HL patients over age 60 years has rangedfrom 15% to 30%. However, the proportion of patients over age 60 years in clinical trials has been considerably lower, typically constituting < 5% to 10% of participants. Elderly HL patients commonly present with mixed cellularity histology, B symptoms, advanced stage, and Epstein-Barr virus-positive disease. Progression-free and overall survival rates for elderly HL patients are disproportionately inferior to those of younger patients. Generally, treatment of elderly HL for all disease stages should be given with curative intent, but more effective, tolerable therapeutic regimens are needed. No standard treatment recommendations exist for elderly HL Bleomycin-containing regimens including ABVD (doxorubicin [Adriamycin], bleomycin, vinblastine, dacarbazine) are associated with pulmonary toxicity, and intensive therapy such as BEACOPP (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine [Oncovin], procarbazine [Matulane], prednisone) is poorly tolerated, whereas less-intensive regimens such as CVP/CEB (chlorambucil [Leukeran], vinblastine, procarbazine, prednisone, cyclophosphamide, etoposide, bleomycin) and ChlVPP (chlorambucil, vinblastine, procarbazine, prednisolone) appear to be less effective than anthracycline-based regimens. Recent data using CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) in this population merit further investigation. In addition, further evaluation of the prognostic value of early PET in elderly HL is warranted. Continued multicenter collaborations with prospective clinical trials, including formal assessment of comorbidity and functional status, will be critical to the successful study of elderly HL. PMID:19086599

Evens, Andrew M; Sweetenham, John W; Horning, Sandra J

2008-11-15

11

Post Hoc Parkinson's Disease: Identifying an Uncommon Disease in the Cardiovascular Health Study  

PubMed Central

Background Although ongoing cohort studies offer a unique opportunity to apply existing information collected prospectively to further the scientific understanding of Parkinson's disease (PD), they typically have limited information for clinical diagnosis. Methods We used combinations of self-report, International Classification of Diseases ? 9th edition codes and antiparkinsonian medications to identify PD in the Cardiovascular Health Study. To determine whether the expected inverse association between smoking and PD is evident using our outcome definitions, we assessed baseline smoking characteristics for various definitions of PD. Results We identified 60 cases with prevalent PD (1.0%; 95% confidence interval, CI = 0.8–1.3%) and 154 with incident PD by year 14. Clear associations were observed for current smokers (odds ratio, OR = 0.50; 95% CI = 0.26–0.95) and for those who smoked ?50 pack-years (OR = 0.53; 95% CI = 0.29–0.96). Estimates for smoking were similar when ?2 data sources were required. Estimates for self-report alone were attenuated towards null. Conclusions Using multiple data sources to identify PD represents an alternative method of outcome identification in a cohort that would otherwise not be possible for PD research. Ongoing cohort studies can provide settings in which rapid replication and explorations of new hypotheses for PD are possible.

Ton, T.G.; Jain, S.; Boudreau, R.; Thacker, E.L.; Strotmeyer, E.S.; Newman, A.B.; Longstreth, W.T.; Checkoway, H.

2010-01-01

12

Nodular fasciitis: an uncommon disease with common medical management challenges at a remote naval hospital.  

PubMed

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

Spinelli, Nicholas; Khorassani, Nima

2013-09-01

13

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

SciTech Connect

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

Choy, F.Y.M.; Wei, C.; Applegarth, D.A.; McGillivray, B.C. [Univ. of British Columbia, Vancouver (Canada)

1994-06-01

14

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

PubMed

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

Huyard, Caroline

2009-05-01

15

Severe pneumonia and jaundice in a young man: an atypical presentation of an uncommon disease.  

PubMed

We present a patient with an atypical presentation of Fusobacterium infection, the genus responsible for Lemierre's syndrome. This syndrome, which often affects healthy, young people and can be fatal if not recognized and treated early, is defined as a history of recent oropharyngeal infection with clinical or radiological evidence of internal jugular vein thrombosis and isolation of anaerobic pathogens, mainly Fusobacterium necrophorum. The history, presentation, investigations and management of the patient are described and then contrasted with the existing literature surrounding Lemierre's syndrome, once termed the 'forgotten disease'. PMID:21546562

Wingfield, T; Blanchard, T J; Ajdukiewicz, K M B

2011-05-05

16

Leptomeningeal spinal metastases from glioblastoma multiforme: treatment and management of an uncommon manifestation of disease.  

PubMed

Glioblastoma multiforme (GBM) is one of the most common and aggressive primary brain tumors, composing 12%-20% of all intracranial tumors in adults. Average life expectancy is merely 12-14 months following initial diagnosis. Patients with this neoplasm have one of the worst 5-year survival rates among all cancers despite aggressive multimodal treatment consisting of maximal tumor resection, radiation therapy, and adjuvant chemotherapy. With recent advancements in management strategies, there has been improvement in the overall trend in patient outcomes; however, recurrence remains nearly inevitable. While most tumors recur locally, metastases to distal locations have become more common. Specifically, the last decade has seen an increased incidence of spinal metastases, representing an emerging complication in patients with intracranial GBM. However, the literature regarding prevention strategies and the presentation of spinal metastases has remained scarce. As local control of primary lesions continues to improve, more cases of spinal metastases are likely to be seen. In this review the authors present a new case of metastatic GBM to the L-5 nerve root, and they summarize previous cases of intracranial GBM with leptomeningeal spinal metastatic disease. They also characterize key features of this disease presentation and discuss areas of future investigation necessary for enhanced prevention and treatment of this complication. PMID:22958073

Lawton, Cort D; Nagasawa, Daniel T; Yang, Isaac; Fessler, Richard G; Smith, Zachary A

2012-09-07

17

Uncommon types of polyglucosan bodies in the human brain: distribution and relation to disease.  

PubMed

The significance of the development of polyglucosan bodies (PBs) in the CNS is incompletely understood. We present the clinicopathological features of three autopsy cases with numerous PBs other than the common corpora amylacea or Lafora bodies. The first patient had pleomorphic PBs in the neuronal processes of pallidum and substantia nigra which, thus, are consistent with Bielschowsky bodies. Bielschowsky bodies involved also the hypothalamus and tegmentum of midbrain and medulla. The present case was the first not associated with any clinical symptoms. The second patient also had incidental Bielschowsky bodies in the external pallidum, substantia nigra, and pallidothalamic, pallidonigral and nigrostriatal tracts. Additionally, unique clusters of small PBs appeared in the cerebral cortex, putamen, pallidum, and caudate nucleus. Immunostaining suggested that these small clustered PBs were located in the cytoplasm and processes of astrocytes. Ultrastructurally, these clustered PBs were in agreement with previous descriptions of PBs. The third patient had adult polyglucosan body disease. Most PBs in the white matter were corpora amylacea situated in astrocytic processes or axons. In the gray matter, many pleomorphic PBs resembling Bielschowsky bodies occurred in neuronal processes. In the peripheral nervous system, a few PBs were seen in myelinated axons.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8310799

Sugiyama, H; Hainfellner, J A; Lassmann, H; Indravasu, S; Budka, H

1993-01-01

18

Uncommon Clinical Course of Multiple Osteochondromatosis in a Patient with a Long-Term History of Cushing's Disease  

Microsoft Academic Search

Cushing's disease (CD), the chronic endogenous hypercortisolism derived from an ACTH-secreting pituitary adenoma, and multiple osteochondromatosis (MO), a congenital mesoderm dyschondroplasia, represent two distinct rare neoplastic diseases. Clinical appearance of MO usually occurs during the first-second decade of life. In fact, the growth of osteochondromas parallels the patient's growth, then becoming quiescent after the closure of the epiphyses and the

Antongiulio Faggiano; Rosario Pivonello; Carlo Ruosi; Emanuele Somma; Margareth Imbimbo; Mariagiovanna Filippella; Gaetano Lombardi; Annamaria Colao

2001-01-01

19

Uncommon Pulmonary Presentation of IgG4-Related Disease in a 15-Year-Old Boy.  

PubMed

IgG4-related disease was first described in adults with autoimmune pancreatitis but is now known to affect multiple organs. Lung involvement has never been described in children to our knowledge. Here, we report an adolescent presenting with recurrent dry cough and hemoptysis who was found to have venous ectasia in the left upper lobe, and diffuse bronchiectasis. Sustained high levels of IgG4 (1,090 mg/dL) were found, and the endobronchial biopsy revealed a marked infiltration of plasma cells producing IgG4 (ratio of IgG4 plasma cells to IgG plasma cells >50%). This unique case highlights the occurrence of IgG4-related disease in a child and underscores the importance of careful scrutiny of all investigations in complex pediatric respiratory cases. PMID:23918112

Pifferi, Massimo; Di Cicco, Maria; Bush, Andrew; Caramella, Davide; Chilosi, Marco; Boner, Attilio L

2013-08-01

20

Uncommon cause of chest pain in a renal transplantation patient with autosomal dominant polycystic kidney disease: a case report.  

PubMed

Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of end-stage renal disease (ESRD) and, because of its intrinsic systemic involvement, its treatment can be a medical and surgical challenge. This condition is often associated with the presence of hepatic cysts and their prevalence generally increases with age. Most patients remain asymptomatic, but some of these will develop complications associated with enlargement and infection of their cysts. Chest pain is a rare manifestation of these complications and, after exclusion of more common cardiovascular and pulmonary causes, should raise the suspicion of an infected hepatic cyst in these patients. We report the case of a 62-year-old male who underwent a kidney transplantation from a cadaveric donor in 1997 (etiology of the ESRD was ADPKD), and was admitted to the emergency department with complaints of chest pain radiating to both shoulders and the interscapular region. An echocardiogram was showed compression of the right atrium by a large liver cyst without associated ventricular dysfunction. Computer tomography-guided drainage of the cyst was performed and an Enterobacter aerogenes sensitive to carbamapenemes was isolated from respective cultures. The patient presented a favorable clinical outcome with prolonged administration of antibiotic therapy according to the antibiotic susceptibility testing. There was no need for surgical intervention. PMID:23026633

Rodrigues, L; Neves, M; Machado, S; Sá, H; Macário, F; Alves, R; Mota, A; Campos, M

2012-10-01

21

Adding with Uncommon Denominators  

NSDL National Science Digital Library

Teachers can use this interactive tool to help students build a conceptual understanding of adding fractions with uncommon denominators by linking visual models to procedures. Students make use of fractions with a value of one. This page includes a video demonstration of the tool and sample lessons from the Conceptua curriculum. Free registration is required to use the tool. A paid subscription is necessary to access full curriculum and allow full student use.

2011-01-01

22

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

23

Detection of Uncommon Deletions in Alpha-Thalassemia Using the PCR-Reverse Dot-Blot Method for Prenatal Diagnosis of Nondeletional Hemoglobin H Disease  

Microsoft Academic Search

Nondeletional hemoglobin (Hb) H disease is caused by a deletion of both ?-globin genes on one chromosome 16 and of an ?+-thalassemia point mutation on the other chromosome 16. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, and are often transfused. Counseling and prenatal diagnosis ought to be offered to couples at risk of nondeletional Hb

Yu Yang; Dong-Zhi Li

2010-01-01

24

Ameloblastic fibroma: an uncommon entity.  

PubMed

Ameloblastic fibroma is an uncommon mixed odontogenic tumour, which is often confused with ameloblastoma. It exhibits both epithelial and mesenchymal components with absence of any calcified dental structure. This paper presents two cases of this rare entity with detailed review of literature. PMID:23843410

Vij, Ruchieka; Vij, Hitesh

2013-07-09

25

Uncommon cases of pityriasis versicolor.  

PubMed

Malassezia may play a role in several dermatoses. It is responsible for foliculitis and mainly for pityriasis versicolor. Pityriasis versicolor is the most known dermatitis because of its clinical aspects and frequently for its poor response to the therapy, mainly in chronic forms. The clinical aspects of uncommon and rare forms of pityriasis versicolor have been reported. The data related to the patients observed in the last thirty years in Siena are reported. In addition, a study was carried out in Pisa by Professor F. Mancianti to identify species of Malassezia isolated in 37 patients. PMID:18693567

Romano, C

2008-06-01

26

Secondary Syphilis: Uncommon Manifestations a Common Disease  

PubMed Central

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

McPhee, Stephen J.

1984-01-01

27

Two uncommon cases of partial anomalous pulmonary vein connection.  

PubMed

Pulmonary venous developmental anomalies encompass a wide spectrum of congenital diseases, including partial anomalous pulmonary venous connection. We present two cases of uncommon partial anomalous pulmonary venous connection depicted well by magnetic resonance (MR) and computed tomography (CT) which could play an important role as noninvasive imaging techniques, providing high-quality and wide field of view imaging. PMID:23588031

Russo, Vincenzo; Mineo, Giangaspare; Buia, Francesco; Attinà, Domenico; Niro, Fabio; Lovato, Luigi; Zompatori, Maurizio

2013-04-15

28

Uncommon yeast infections in hematological patients: from diagnosis to treatment.  

PubMed

Invasive fungal diseases have been recognized with increasing frequency as major pathogens in patients with cancer over the past few decades, as a result of new and more aggressive anticancer treatments and supportive care, and this has been especially reported for patients suffering from hematological malignancies. In these settings, typically uncommon yeasts and filamentous fungi have recently emerged as significant human pathogens, frequently as breakthrough infections in patients receiving empirical antifungal therapy or antifungal prophylaxis and with reported high crude mortality rates. The aim of this article is to discuss certain aspects of the approach to invasive fungal diseases due to uncommon yeasts (e.g., Trichosporon spp., Blastomyces spp. and Cryptococcus spp.) in patients with hematological malignancies, focusing on epidemiology, diagnosis, treatment outcomes and the role of novel antifungal drugs (i.e., new triazoles and echinocandins). PMID:22029524

Caira, Morena; Trecarichi, Enrico Maria; Tumbarello, Mario; Leone, Giuseppe; Pagano, Livio

2011-11-01

29

Gleason grade progression is uncommon.  

PubMed

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

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

2013-08-15

30

An Uncommon Complication of Secondary Augmentation Mammoplasty  

Microsoft Academic Search

This is an interesting report of a very rare complication after augmentation mammoplasty. A literature review shows only one previous report of two patients with galactoceles after breast augmentation [2]. Although plastic surgeons may have heard of galactoceles after augmentation mammoplasty, most probably have not seen them. Although uncommon, galactoceles usually occur in lactating women, but there are several reports

Farzad R. Nahai; Foad Nahai

2005-01-01

31

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

32

Uncommon flaps for chest wall reconstruction.  

PubMed

The omentum, external oblique musculocutaneous, and thoracoepigastric flaps are uncommonly used for chest wall reconstruction. Nevertheless, awareness and knowledge of these flaps is essential for reconstructive surgeons because they fill specific niche indications or serve as lifeboats when workhorse flaps are unavailable. The current report describes the anatomic basis, technical aspects of flap elevation, and indications for these unusual flaps. PMID:22294943

Matros, Evan; Disa, Joseph J

2011-02-01

33

AN UNCOMMON CAUSE OF HEPATIC LESIONS  

Microsoft Academic Search

An uncommon etiology of intraabdominal abscesses presenting as appendicitis in a patient with travel exposure. A 52-year-old African- American male presented to the emergency department with four days of dull, achy abdominal pain, nausea, fever, and non-bloody diarrhea. The abdominal symptoms progressed as sharp and stabbing pain in the right upper and lower quadrants. He had remote history of being

Jessica Kumar

34

[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

35

Uncommon opportunistic fungi: new nosocomial threats.  

PubMed

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

Groll, A H; Walsh, T J

2001-01-01

36

Diabetic Mastopathy: An Uncommon Complication of Diabetes Mellitus  

PubMed Central

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

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

2013-01-01

37

Interstitial Lung Disease and Profound Hypoxaemia in a Severely-malnourished Child with Very Severe Pneumonia and Potential Lymph-node Tuberculosis: An Uncommon but Serious Co-morbidity  

PubMed Central

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

Parvin, Irin; Ashraf, Hasan; Saha, Haimanti; Matin, Fariha B.; Pietroni, Mark A.C.

2013-01-01

38

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

PubMed

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

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

2013-03-01

39

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

PubMed

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

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

2009-06-01

40

Uncommon Sense - The Heretical Nature of Science  

NASA Astrophysics Data System (ADS)

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

Cromer, Alan

1995-08-01

41

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.

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

2009-01-01

42

Actinomycosis of the colon with invasion of the abdominal wall: An uncommon presentation of a colonic tumour  

Microsoft Academic Search

Actinomycosis is an uncommon chronic suppurative infectious disease that is caused by Actinomycetes organisms, which are gram-positive, microaerophilic, anaerobic bacteria. The most common type causing disease in humans is Actinomyces israelii. This organism is a commensal of the human mouth and is seldom pathogenic. When it does cause disease, however, three main clinical types of involvement are recognized including cervico-facial,

M. E. C. McFarlane; K. C. M. Coard

2010-01-01

43

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

PubMed

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

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

2009-07-15

44

Masseter muscle cysticercosis: a common disease with uncommon presentation.  

PubMed

Cysticercosis in humans is caused by Taenia solium larvae infestation. Oral cysticercosis is a rare condition and is challenging to diagnose. We present a case of masseter cysticercosis in a young woman who presented with painful recurrent cheek swelling. Diagnosis confirmed it after neuroimaging and histopathological examination of the excised lesion from masseter muscle. PMID:23645645

Chaurasia, Rameshwar Nath; Jaiswal, Shalini; Gautam, Deepak; Mishra, Vijay Nath

2013-05-02

45

Secondary syphilis: uncommon manifestations of a common disease.  

PubMed

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

McPhee, S J

1984-01-01

46

Novel Occurrence of Uncommon Polyamines in Higher Plants 1  

PubMed Central

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

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

1990-01-01

47

An uncommon presentation of hydatid cyst in submandibular salivary gland—a case report  

Microsoft Academic Search

Hydatid disease is a parasitosis known as hydatidosis or echinococcosis. It affects both animals and humans. Hydatid cyst\\u000a of the head and neck region is uncommon and the involvement of salivary glands, especially the submandibular gland is very\\u000a rare. A case of submandibular gland hydatid cyst is reported in this article. A patient presented with a swelling of submandibular\\u000a region

Vijay Bhatia; Mayank Singh; Natwar Gupta

2010-01-01

48

Uncommon metastases from differentiated thyroid carcinoma.  

PubMed

Differentiated thyroid carcinoma (DTC) usually behaves in an indolent manner with low metastatic potential. The major sites of distant metastases are the lung and bone. Metastases to the brain, eye, breast, liver, kidney, muscle and skin are rare or relatively rare. These metastases have almost always appeared in patients with advanced disease and are often associated with poor prognosis but overlooked in clinical practice. Recognizing them has a significant impact on clinical decision-making and prognosis of the patients. Treatment in these patients should be individualized and an alternative therapeutic approach should be considered. Care should be taken to determine whether a (131)I uptake focus found at an unexpected site of (131)I- whole body scan (WBS) is a DTC metastasis or a false-positive (131)I uptake. Imaging with (131)I-SPET/CT is of incremental value in the finding of rare metastases from DTC. In conclusion, DTC can have unusual metastatic presentations and patterns. Post-therapy (131)I-WBS and (131)I-SPET/CT play an important role in the management of patients with DTC. PMID:23106056

Song, Hong-Jun; Xue, Yan-Li; Qiu, Zhong-Ling; Luo, Quan-Yong

2012-10-25

49

Pulmonary mantle cell lymphoma: a rare manifestation of an uncommon condition  

PubMed Central

Herein we describe the case of a 64-year old man with a history of mantle cell lymphoma found to have evidence of pulmonary parenchymal involvement by recurrence of his lymphoma. While lung involvement is not necessarily uncommon with Non-Hodgkin's lymphomas as a group, it is very rare for mantle cell lymphoma to involve the lung parenchyma. In addition, the radiographic manifestation of his pulmonary lymphoma as a discrete FDG-avid ground-glass lesion on chest imaging was also distinctly uncommon for pulmonary lymphoma which classically appears in one of three patterns: scattered ill-defined nodules, a bronchovascular/lymphangitic process, or pneumonic/alveolar consolidation effectively indistinguishable from bacterial pneumonia. Due to significant underlying lung disease our patient was not a candidate for high-dose conditioning and autologous stem cell transplantation. He was ultimately treated with rituximab and cladribine therapy and had early signs of clinical response at last correspondence.

DePew, Zachary S.; Vassallo, Robert

2012-01-01

50

Uncommon neurological manifestations of hemolytic anemia: a report of two cases.  

PubMed

Neurological complications of hemolytic anemias are rather uncommon. We are reporting two cases of hemolytic anemia presenting as chorea and recurrent ischemic stroke. The first one is a case of chorea in a patient with sickle cell trait. Reviewing the literature we could find only one case report of chorea in sickle cell disease disease. The second is a case of recurrent ischemic stroke in hereditary spherocytosis. We could trace two reports on a Medline search, though their association was less certain. PMID:18688151

Ramu, Chitela Sita; Raju, Garuda Butchi; Rao, Kolli Satya; Venkateswarlu, Kolichana

51

Status assessment of New Zealand's naturally uncommon ecosystems.  

PubMed

Globally, ecosystems are under increasing anthropogenic pressure; thus, many are at risk of elimination. This situation has led the International Union for Conservation of Nature (IUCN) to propose a quantitative approach to ecosystem-risk assessment. However, there is a need for their proposed criteria to be evaluated through practical examples spanning a diverse range of ecosystems and scales. We applied the IUCN's ecosystem red-list criteria, which are based on changes in extent of ecosystems and reductions in ecosystem processes, to New Zealand's 72 naturally uncommon ecosystems. We aimed to test the applicability of the proposed criteria to ecosystems that are naturally uncommon (i.e., those that would naturally occur over a small area in the absence of human activity) and to provide information on the probability of ecosystem elimination so that conservation priorities might be set. We also tested the hypothesis that naturally uncommon ecosystems classified as threatened on the basis of IUCN Red List criteria contain more threatened plant species than those classified as nonthreatened. We identified 18 critically endangered, 17 endangered, and 10 vulnerable ecosystems. We estimated that naturally uncommon ecosystems contained 145 (85%) of mainland New Zealand's taxonomically distinct nationally critical, nationally endangered, and nationally vulnerable plant species, 66 (46%) of which were endemic to naturally uncommon ecosystems. We estimated there was a greater number of threatened plant species (per unit area) in critically endangered ecosystems than in ecosystems classified as nonthreatened. With their high levels of endemism and rapid and relatively well-documented history of anthropogenic change, New Zealand's naturally uncommon ecosystems provide an excellent case-study for the ongoing development of international criteria for threatened ecosystems. We suggest that interactions and synergies among decline in area, decline in function, and the scale of application of the criteria be used to improve the IUCN criteria for threatened ecosystems. PMID:22731663

Holdaway, Robert J; Wiser, Susan K; Williams, Peter A

2012-06-25

52

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.

Kisku, Sundeep; Thomas, Reju Joseph

2013-01-01

53

Fulminant infection by uncommon organisms in animal bite wounds.  

PubMed Central

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

Dutta, J. K.

1998-01-01

54

Catalog of Uncommon Facilities in Western Colleges and Universities.  

ERIC Educational Resources Information Center

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

Viehland, Dennis, Comp.

55

Catalog of Uncommon Facilities in Western Colleges and Universities.  

ERIC Educational Resources Information Center

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

Viehland, Dennis, Comp.

56

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

57

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.

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

2011-01-01

58

Hydrops fetalis and fibrosarcoma: case report of an uncommon association  

Microsoft Academic Search

Fetal hydrops associated with neonatal tumours is an uncommon occurrence. The diagnosis can be established prenatally by\\u000a ultrasound examination. The treatment of choice is surgery which may be curative. We report the case of a male born at 32\\u000a weeks gestation who presented with severe hydrops fetalis and a thoracic mass. The child could not be operated upon because\\u000a of

A. Navajas; I. Astigarraga; A. Fdez-Teijeiro; J. Lopez-Heredia; B. Biritxinaga; C. Camarero

1996-01-01

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.

2012-01-01

60

An Uncommon Cause of Anterior Knee Pain: Patellar Chondroma.  

PubMed

A 16-year-old boy presented with a patellar mass and anterior knee pain without any trauma. On physical and radiologic assessment, a mass at the superolateral edge of the patella and a hyperintense lesion on T2 sequences of magnetic resonance imaging was detected. Excisional biopsy revealed a chondroma of patella. Primary bone tumors of the patella are extremely rare and occurence of chondroma in this localization is very uncommon. Although anterior knee pain is a very frequent and usually harmless, it is essential to consider the more severe disorders such as bone tumors. PMID:23669736

Kaymaz, Burak; Eroglu, Mehmet; Kaymaz, Nazan; Ucar, Mehmet

2013-05-01

61

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

62

Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.  

PubMed

Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome. PMID:20180707

Paranaíba, Lívia Máris Ribeiro; Martelli-Júnior, Hercílio; de Miranda, Roseli Teixeira; Bufalino, Andréia; Abdo Filho, Ruy Camargo; Coletta, Ricardo D

2010-09-01

63

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.

64

[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

65

Chronic candidal meningitis: an uncommon manifestation of candidiasis.  

PubMed

Chronic meningitis is an uncommon manifestation of candidiasis. We present the case of an elderly woman who had symptoms such as headache, malaise, and fever for 8 months and was found to have Candida albicans meningitis, and we review 17 similar cases. An underlying illness or risk factor for candidiasis was present in only 13 (72%) of the 18 patients. Headache, fever, and nuchal rigidity were the predominant clinical findings. Analysis of CSF showed either mononuclear or neutrophilic pleocytosis, an elevated protein level, and a decreased level of glucose. Only 17% of CSF smears were positive, and only 44% of initial CSF cultures yielded Candida species. In four cases, Candida species grew only after special techniques were used; in three cases, CSF cultures remained negative. The overall mortality associated with candidal meningitis was 53%, but among 12 patients who were treated and followed, the rate was 33%. In addition to acute meningitis seen with disseminated infection, Candida species can cause chronic meningitis that mimics tuberculosis and the more common fungal meningitides, such as cryptococcosis. PMID:7948559

Voice, R A; Bradley, S F; Sangeorzan, J A; Kauffman, C A

1994-07-01

66

Predicting mortality for paediatric inpatients where malaria is uncommon  

PubMed Central

Objective As the proportion of children living low malaria transmission areas in sub-Saharan Africa increases, approaches for identifying non-malarial severe illness need to be evaluated to improve child outcomes. Design As a prospective cohort study, we identified febrile paediatric inpatients, recorded data using Integrated Management of Childhood Illness (IMCI) criteria, and collected diagnostic specimens. Setting Tertiary referral centre, northern Tanzania. Results Of 466 participants with known outcome, median age was 1.4 years (range 2 months–13.0 years), 200 (42.9%) were female, 11 (2.4%) had malaria and 34 (7.3%) died. Inpatient death was associated with: Capillary refill >3 s (OR 9.0, 95% CI 3.0 to 26.7), inability to breastfeed or drink (OR 8.9, 95% CI 4.0 to 19.6), stiff neck (OR 7.0, 95% CI 2.8 to 17.6), lethargy (OR 5.2, 95% CI 2.5 to 10.6), skin pinch >2 s (OR 4.8, 95% CI 1.9 to 12.3), respiratory difficulty (OR 4.0, 95% CI 1.9 to 8.2), generalised lymphadenopathy (OR 3.6, 95% CI 1.6 to 8.3) and oral candidiasis (OR 3.4, 95% CI 1.4 to 8.3). BCS <5 (OR 27.2, p<0.001) and severe wasting (OR 6.9, p<0.001) were independently associated with inpatient death. Conclusions In a low malaria transmission setting, IMCI criteria performed well for predicting inpatient death from non-malarial illness. Laboratory results were not as useful in predicting death, underscoring the importance of clinical examination in assessing prognosis. Healthcare workers should consider local malaria epidemiology as malaria over-diagnosis in children may delay potentially life-saving interventions in areas where malaria is uncommon.

Clifton, Dana C; Ramadhani, Habib O; Msuya, Levina J; Njau, Boniface N; Kinabo, Grace D; Buchanan, Ann M; Crump, John A

2012-01-01

67

Uncommon complications of sacrospinous fixation for treatment of vaginal vault prolapse  

Microsoft Academic Search

Objective: The present study was undertaken to evaluate uncommon complications following trans- vaginal sacrospinous colpopexy for treatment of vaginal vault prolapse. Case reports: A series of three patients who developed uncommon complications following sacrospinous fixation are reported. A 64-year-old patient undergoing bilateral sacrospinous colpopexy for the treatment of an ICS stage III vaginal vault prolapse developed a perineal necrotizing infection.

Agnaldo L. Silva-Filho; Admário S. Santos-Filho; Octacílio Figueiredo-Netto; Sérgio A. Triginelli

2005-01-01

68

Common dermatoses in moderately pigmented skin: uncommon presentations  

Microsoft Academic Search

Several common dermatoses appear different in people of color. Most international literature, especially the reputed textbooks, are replete with photographs of skin diseases in fair-skinned patients. The orientation of Western dermatologists to common diseases in pigmented skin therefore is needed. The reverse is also true. Dermatologists who work in pigmented skin communities are known to have initial problems with fair

Mohamed Badawy Abdel-Naser; Shyam B. Verma; Mohamed Abdel Rahim Abdallah

2005-01-01

69

Actinomycosis of the colon with invasion of the abdominal wall: An uncommon presentation of a colonic tumour.  

PubMed

Actinomycosis is an uncommon chronic suppurative infectious disease that is caused by Actinomycetes organisms, which are gram-positive, microaerophilic, anaerobic bacteria. The most common type causing disease in humans is Actinomyces israelii. This organism is a commensal of the human mouth and is seldom pathogenic. When it does cause disease, however, three main clinical types of involvement are recognized including cervico-facial, thoracic and abdominal actinomycosis.Herein, we present the case of a 79-year-old male patient who underwent surgical exploration following presentation with abdominal pain and an abdominal mass, initially thought to be a malignancy. Pathologic examination confirmed this as a case of abdominal actinomycosis. This diagnosis should always be included in the differential diagnosis of patients who present with an infiltrative abdominal mass. PMID:22096664

McFarlane, M E C; Coard, K C M

2010-08-26

70

Actinomycosis of the colon with invasion of the abdominal wall: An uncommon presentation of a colonic tumour  

PubMed Central

Actinomycosis is an uncommon chronic suppurative infectious disease that is caused by Actinomycetes organisms, which are gram-positive, microaerophilic, anaerobic bacteria. The most common type causing disease in humans is Actinomyces israelii. This organism is a commensal of the human mouth and is seldom pathogenic. When it does cause disease, however, three main clinical types of involvement are recognized including cervico-facial, thoracic and abdominal actinomycosis. Herein, we present the case of a 79-year-old male patient who underwent surgical exploration following presentation with abdominal pain and an abdominal mass, initially thought to be a malignancy. Pathologic examination confirmed this as a case of abdominal actinomycosis. This diagnosis should always be included in the differential diagnosis of patients who present with an infiltrative abdominal mass.

McFarlane, M.E.C.; Coard, K.C.M.

2010-01-01

71

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

PubMed Central

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

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

2012-01-01

72

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

PubMed

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

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

2012-12-01

73

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

PubMed

Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP) and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques. PMID:23781379

Siahaya, Fransisca J; Lalisang, Toar J M; Jeo, Wifanto S; Simanjuntak, Arnold B H; Philippi, Benny

2013-05-26

74

Pulmonary arteriovenous malformation: An uncommon cause for cyanosis in the newborn  

Microsoft Academic Search

Pulmonary arteriovenous malformation is an uncommon cause of cyanosis and heart failure in newborns. A case is presented with review of the literature in order to emphasize its clinical and radiographic features.

G. A. Taylor

1983-01-01

75

Ossifying fibroma affecting the mandibular condyle: report of an uncommon case.  

PubMed

We describe the surgical management of an uncommon case of ossifying fibroma affecting the mandibular condyle. A condylectomy was performed with an immediate temporomandibular joint reconstruction by a total temporomandibular joint prosthesis. PMID:23851866

Zavattero, Emanuele; Garzino-Demo, Paolo; Berrone, Sid

2013-07-01

76

Bites and stings of uncommon arthropods. 2. Reduviids, fire ants, puss caterpillars, and scorpions.  

PubMed

Arthropod bites and stings may cause intense pain, sometimes out of proportion to the size of the lesion. Severe reactions may arise from prior exposure and buildup of antibodies. Diagnosis often can be made from the clinical presentation if the physician is familiar with the effects of the uncommon bites and stings. Some uncommon bites, such as those of reduviids, can be treated symptomatically, but others, such as those of poisonous scorpions, call for antivenin therapy. PMID:6114485

Hunt, G R

1981-08-01

77

Contribution of endosonography in an uncommon case of pancreatic cysts  

PubMed Central

Here we present the case of a 35-year-old female patient with long standing dyspepsia and imaging studies showing the presence of multiple cysts in the head and tail of the pancreas. The patient underwent endosonography that confirmed the presence of multiple simple cysts throughout the entirety of the pancreas without dilation of the pancreatic duct. The majority of the cysts were less than one centimeter in size, and the largest cyst showed a honeycomb appearance. Cytology of aspirates from the two largest cysts was compatible with benign pancreatic cysts. Endosonography also revealed cysts within the left kidney and spleen. Genetic testing confirmed Von Hippel-Lindau disease. We highlight this case because it is unusual for Von Hippel-Lindau disease, a rare clinical entity, to present solely with cysts in the absence of more common manifestations, such as hemangioblastomas in the central nervous system and malignancy.

Sousa, Ana Lucia; Sousa, Diamantino; Figueiredo, Pedro; Marques, Pedro Pinto; Guerreiro, Horacio

2013-01-01

78

Polypoid scrotal calcinosis: an uncommon variant of scrotal calcinosis.  

PubMed

Scrotal calcinosis is a rare condition characterized by multiple calcified nodules within scrotal skin. To our knowledge, only 67 cases have been reported to date. The etiology has been widely disputed and is viewed by many to be idiopathic. We describe a case of "idiopathic" scrotal calcinosis that not only presents a distinctly unusual clinical appearance, but also shows that at least some cases of this disease occur in association with dystrophic calcification of epidermal (follicular) cysts. PMID:8790314

Polk, P; McCutchen, W T; Phillips, J G; Biggs, P J

1996-09-01

79

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

PubMed

Inflammatory disease of pancreas can be acute or chronic. Acute pancreatitis is a reversible process whereas chronic pancreatitis produces irreversible changes in the architecture and function of pancreas. Although pancreatitis is less common in children than in adults it still occurs with regularity and should be considered in any child with acute or chronic abdominal pain. The main difference between chronic pancreatitis in children and adults is in the etiology. We present a case of idiopathic chronic calcific pancreatitis in a child thereby signifying the importance of this entity at this age. PMID:23633870

Aggarwal, Simmi; Garg, Ravinder; Bansal, Pankaj

2013-01-01

80

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.

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

2011-01-01

81

Diversity and uncommon HPV types in HIV seropositive and seronegative women attending an STI clinic  

PubMed Central

Given the causal relationship between specific types of HPV with cervical cancer and precursor lesions, it is important to identify the viral type involved. The aim of this study is to access the prevalence of HPV types in HIV seropositive and seronegative women. Accordingly, 77 HPV positive cervical samples were obtained from 284 women (seropositive (n=112) and seronegative (n=172) for HIV) who attended a Sexually Transmitted Infection clinic, in Vitoria, Southeastern Brazil. Viral DNA was amplified by PCR using MY09/MY11 degenerated primers and the genotyping was performed by Restriction Fragment Length Polymorphism. Seventy five out of the 77 HPV samples were genotyped: 6, 11, 13, 16, 18, 26, 31, 31b, 32, 33, 34, 35, 52, 53, 55, 56, 58, 59, 61, 62, 64, 66, 71, 81, 83, 84. The most prevalent type was HPV16 followed by HPV types 6, 11 and 53. Fifty five percent and 45% belonged to high and low risk types, respectively. High risk types corresponded to 59% and 54.5% of the HPV detected in HIV seronegative and seropositive women, respectively. The uncommon HPV 13 type in cervical samples was also observed in this study. The oncogenic types were more common in the HIV seronegative samples and the number of cases with multiple infections was similar for the two groups. HPV typing is not only important clinically for the establishment of monitoring and treatment of a patient, it also provides knowledge of the viral types circulating in a population, which is of interest in the development of prevention and treatment programs for this disease.

de Mattos, Adriana Tonani; de Freitas, Luciana Bueno; Lima, Bettina Moulin Coelho; Miranda, Angelica Espinosa; Spano, Liliana Cruz

2011-01-01

82

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.

2013-01-01

83

Uncommon allele in apo AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy.  

PubMed

Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo AI-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients. PMID:9640797

Novak, E M; Longui, C A; Bydlowski, S P

84

Uncommon types of polyglucosan bodies in the human brain: distribution and relation to disease  

Microsoft Academic Search

The significance of the development of polyglucosan bodies (PBs) in the CNS is incompletely understood. We present the clinicopathological features of three autopsy cases with numerous PBs other than the common corpora amylacea or Lafora bodies. The first patient had pleomorphic PBs in the neuronal processes of pallidum and substantia nigra which, thus, are consistent with Bielschowsky bodies. Bielschowsky bodies

H. Sugiyama; J. A. Hainfellner; H. Lassmann; S. Indravasu; H. Budka

1993-01-01

85

Spontaneous spinal epidural hematoma: an uncommon presentation of a rare disease  

Microsoft Academic Search

Introduction: Spontaneous spinal epidural hematoma is rare in children. The presenting symptoms are usually pain, either local or radicular, followed by progressive bilateral weakness, and sensory loss hours and even days later. In the absence of significant precipitating factors such as severe trauma or previously known coagulopathies the diagnosis is usually delayed, and it is not until the full picture

Sarit Ravid; Steven Schneider; Joseph Maytal

2002-01-01

86

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

PubMed

BACKGROUND: Prevalence of bacteremia caused by non-fermentative gram-negative bacteria (NFGNB) has been increasing over the past decade. Although many studies have already investigated epidemiology of NFGNB bacteremia, most focused only on common NFGNB including Pseudomonas aeruginosa (PA) and Acinetobacter baumannii (AB). Knowledge of uncommon NFGNB bacteremia is very limited. Our study aimed to investigate epidemiology and identify factors associated with uncommon NFGNB bacteremia. METHODS: This observational study was conducted at a university hospital in Thailand during July 1, 2007-Dec 31, 2008. All patients who had at least one blood culture positive for NFGNB and met the criteria for systemic inflammatory response syndrome within 24 hours before/after obtaining the blood culture were enrolled. The NFGNB isolates that could not be satisfactorily identified by the standard biochemical assays were further characterized by molecular sequencing methods. To identify factors associated with uncommon NFGNB bacteremia, characteristics of patients in the uncommon NFGNB group were subsequently compared to patients in the common NFGNB group (AB and PA bacteremia). RESULTS: Our study detected 223 clinical isolates of NFGNB in 221 unique patients. The major causative pathogens were AB (32.7%), followed by PA (27.8%), Stenotrophomonas maltophilia (5.4%), Acinetobacter lwoffii (4.9%) and Burkholderia pseudomallei (2.7%). Infection-related mortality was 63.0% in the AB group, 40.3% in the PA group and 17.4% in the uncommon NFGNB group. Factors associated with uncommon NFGNB bacteremia (OR [95%CI];p-value) were male sex (0.28[0.14-0.53];p < 0.001), hospital-acquired infection (0.23[0.11-0.51];p < 0.001), recent aminoglycosides exposure 0.23[0.06-0.8];p = 0.01), primary bacteremia (6.43[2.89-14.2];p < 0.001]), catheter related infection (4.48[1.54-13.06];p < 0.001) and recent vancomycin exposure (3.88[1.35-11.1];p = 0.02). CONCLUSIONS: Our distribution of causative pathogens was slightly different from other studies. The common NFGNB group had a remarkably higher ID-mortality than the uncommon NFGNB group. Knowledge of factors associated with uncommon NFGNB bacteremia would help physicians to distinguish between low vs. high risk patients. PMID:23566113

Rattanaumpawan, Pinyo; Ussavasodhi, Prapassorn; Kiratisin, Pattarachai; Aswapokee, Nalinee

2013-04-01

87

Cutaneous manifestations of gastrointestinal diseases  

Microsoft Academic Search

There are a myriad of dermatologic disorders asso- ciated with gastrointestinal (GI) diseases. This article covers the common dermatologic conditions that may be associated with underlying GI diseases and several uncommon conditions that the dermatologist should recognize as being associated with GI disor- ders. Table 1 presents an outline of the diseases that are covered. Inflammatory bowel diseases Inflammatory disorders

Erin E. Boh; Raed Mahmoud

88

A divergent strategy for constructing a sugar library containing 2,6-dideoxy sugars and uncommon sugars with 4-substitution  

Microsoft Academic Search

A practical strategy has been developed for delivering 2,6-dideoxy sugars and uncommon sugars with 4-substitution. This strategy employed Ferrier rearrangement reaction and BF3·OEt2-induced peroxidation to construct key intermediates 2,3-unsaturated glycosides and ?,?-unsaturated lactones from peracetyl rhamnal. After further derivatization, four uncommon sugars with 4-substitution and eight uncommon sugar units with 3,4-disubstitution were successfully synthesized.

Guisheng Zhang; Lei Shi; Qingfeng Liu; Jingmei Wang; Lu Li; Xiaobing Liu

2007-01-01

89

Sheathotomy without Separation of Venule Overlying Arteriole at Occlusion Site in Uncommon Branch Retinal Vein Occlusion  

Microsoft Academic Search

Two cases of uncommon branch retinal vein occlusion (BRVO) with vein overlying artery at occlu- sion site that can be found in less than 1 % who underwent retinal venule sheathotomy without separation of retinal vessel for decompression of BRVO were reported. Both patients had macular hemorrhage, edema, and area of macular capillary nonperfusion. Visual acuity (VA) worsened to 6\\/60

Nuttawut Rodanant; Somanus Thoongsuwan

2005-01-01

90

Spontaneous Tooth Exfoliation after Trigeminal Herpes Zoster: A Case Series of an Uncommon Complication  

PubMed Central

The most significant and debilitating complication of herpes zoster (HZ) is herpetic neuralgia that accompanies and may persist in 10-15% of all zoster patients, particularly those over 60 years of age. The described 3 cases had an uncommon complication of spontaneous tooth exfoliation after trigeminal HZ that rarely finds mention in dermatology literature.

Mahajan, Vikram K; Ranjan, Nitin; Sharma, Sangeet; Sharma, Nand Lal

2013-01-01

91

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

PubMed Central

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

Dotis, J; Printza, N; Papachristou, F

2012-01-01

92

Transition from regular to chaotic dynamics in the system of two coupled oscillators with uncommon inertia  

NASA Astrophysics Data System (ADS)

It is noted that earlier the main attention was paid to the systems of coupled oscillators with appreciably different frequencies. In this work the numerical analysis results concerning the system of two coupled oscillators with uncommon inertia for the case of partial frequencies equality are given.

Kislov, V. Ya.; Savel'Ev, S. V.

1994-06-01

93

Glaucoma in Hansen's disease  

Microsoft Academic Search

Glaucoma is considered to be an uncommon complication of Hansen's disease (leprosy). This study determined the prevalence and characteristics of glaucoma in a large institutionalised leprosy population. All 193 patients currently residing at the Gillis W Long Hansen's Disease Center received a complete ophthalmic examination and review of their records. All had been previously treated with dapsone and\\/or clofazimine. Based

R. C. Walton; S. F. Ball; V. C. Joffrion

1991-01-01

94

Correlating Personal Information Between DoD411, LinkedIn, Facebook, and MySpace with Uncommon Names.  

National Technical Information Service (NTIS)

It is generally easier to disambiguate people with uncommon names than people with common names; in the extreme case a name can be so uncommon that it is used by only a single person on the planet, and no disambiguation is necessary. This thesis explores ...

K. N. Phillips

2010-01-01

95

Economics of Plant Disease Outbreaks  

Microsoft Academic Search

ncreasing trade liberalisation, globalisation and international transportation of people and commodities have increased the potential for disease incursion, both plant and animal, in countries like Australia. While a comparatively strict quarantine regime and geographic isolation provide substantial protection in Australia, disease incursions are not uncommon. In recent years, there have been several exotic disease outbreaks including wheat stripe rust, bacterial

Khorshed Alam; John Rolfe

2006-01-01

96

Heck's disease: diagnosis and susceptibility.  

PubMed

Focal epithelial hyperplasia, or Heck's disease, is an uncommon proliferation of oral mucosa that presents primarily in Native Central and South American populations. It presents as asymptomatic papules or nodules on the oral mucosa, gingiva, tongue, and lips. In the majority of cases, human papilloma virus 13 or 32 is detected. Factors that determine disease susceptibility are unclear, but genetics, and having the human lymphocytic antigen-DR4 (DRB1*0404) allele in particular, are thought to play a major role in disease vulnerability. We report another case of focal epithelial hyperplasia, hypothesize on disease susceptibility, and review the current understanding of this uncommon disorder. PMID:19250415

Bennett, Lindsey K; Hinshaw, Molly

97

Traumatic pseudolipoma causing facial asymmetry: An uncommon pathology and review of its pathogenesis  

PubMed Central

We present an uncommon case of traumatic pseudolipoma in a 24-year-old female, causing facial asymmetry. Literature review suggests trauma as a possible etiology for its pathogenesis, which was present in this case. Microscopically, sometimes it is difficult to differentiate between normal adipose tissue and lipoma. Clinician must provide accurate clinical information in order to make a definitive diagnosis of traumatic pseudolipoma. Its pathogenesis has also been highlighted in this article.

Sah, Kunal; Chandra, Sunira; Kale, Alka; Awasthi, Seema; Rastogi, Priyanka

2011-01-01

98

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

PubMed

Hemobilia with jaundice as a result of cholestasis and bleeding from choledochal cyst is uncommon. Ascertaining the diagnosis is often challenging and delayed diagnosis can lead to significant consequences due to hemodynamic instability, particularly in elderly patients. Although surgery remains the definitive treatment modality, interventional radiology for hemostasis has been increasingly recognized as an option. In this manuscript, we described two Malaysian cases of jaundice and hemobilia associated with choledochal cysts and the challenges related with clinical diagnosis and management. PMID:23324023

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

2013-08-01

99

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

Microsoft Academic Search

Abstract The ‘Cyborg Astrobiologist’ has undergone a second geologi cal field trial, at a site in northern Guadalajara, Spain, near Riba de Santiuste. The site at Riba de Santiuste is dominated by layered deposits of red sandstones. The Cyborg Astrobiologist is a wearable,computer,and video camera system that has demonstrated,a capability to find uncommon interest points in geological imagery in realtime

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

2005-01-01

100

Advies Inzake Preventie van Legionellose (Prevention of Legionnaires Disease).  

National Technical Information Service (NTIS)

Legionellosis is a relatively uncommon disease, which was first identified in 1976 when an unexplained outbreak of pneumonia affected persons attending a convention of the American Legion in Philadelphia (USA). One out of six patients died of the disease....

1986-01-01

101

Adenosine-sensitive wide-complex tachycardia: an uncommon variant of idiopathic fascicular ventricular tachycardia--a case report.  

PubMed

Most wide-complex tachycardias encountered in the emergency department (ED) are ventricular in origin, most commonly associated with structural heart disease. Ventricular tachyarrhythmias range in severity from life-threatening rhythms (eg, ventricular fibrillation and hemodynamically compromising ventricular tachycardia [VT]) to idiopathic forms of VT, which have a benign clinical course and a more favorable prognosis. The authors present the case of a 34-year-old woman who presented to the ED, with a wide-complex tachycardia with a right-bundle-branch block (RBBB) morphology and a right inferior axis, which was terminated with adenosine. The patient was previously misdiagnosed as suffering from a paroxysmal supraventricular tachycardia (SVT), which was unresponsive to beta-blocker therapy. Although the tachycardia responded to adenosine, suggestive of an SVT, the patient was referred to the arrhythmia service, where further work-up revealed an uncommon form of an idiopathic VT, originating from the left anterior fascicle. The authors discuss the unique electrocardiographic and electrophysiologic properties and useful diagnostic maneuvers required to properly identify this form of VT. PMID:12785032

Kassotis, John; Slesinger, Todd; Festic, Emir; Voigt, Louis; Reddy, C V R

102

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.

Fadare, Oluwole

2006-01-01

103

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

PubMed

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

Sierra-Solís, A; Leo-Barahona, M; Romero-López, A I; Gómez-Guerrero, J M

2013-03-21

104

Adder bite: an uncommon cause of compartment syndrome in northern hemisphere.  

PubMed

Snakebite envenomation is an uncommon condition in the northern hemisphere, but requires high vigilance with regard to both the systemic effects of the venom and the locoregional impact on the soft tissues. Bites from the adder, Vipera Berus, may have serious clinical consequences due to systemic effects. A case of a 44-year-old man is reported. The patient was bitten in the right hand. He developed fasciotomy-requiring compartment syndrome of the upper limb. Recognition of this most seldom complication of an adder bite is vital to save the limb. We recommend that the classical signs and symptoms of compartment syndrome serve as indication for surgical decompression. PMID:20854675

Evers, Lars H; Bartscher, Tanja; Lange, Thomas; Mailänder, Peter

2010-09-20

105

An uncommon C1 fracture with longitudinal split of the transverse ligament.  

PubMed

We present a unique variant of C1 fracture, which, at the best of our knowledge, has never been previously reported. This lesion consists in a lateral mass atlas fracture with a longitudinal separation of the transverse ligament that remains functionally preserved. We considered this lesion to be stable and treated the patient conservatively with good recovery. Even if many classifications of atlas fractures have been proposed, none of them ever described this uncommon variant. We debate about biomechanical aspects and therapeutic implication of the reported case. PMID:22167450

Kaiser, D R; Ciarpaglini, R; Maestretti, G

2011-12-14

106

Melanosis of the vagina and human papillomavirus infection, an uncommon pathology: case report.  

PubMed

Benign melanotic lesions of the vagina are uncommon and only a few cases have been reported in the literature. A 34-year-old woman was referred because of a Vaginal Intraepithelial Neoplasia 1 biopsy result. On the gynecological examination, two different hyperpigmented areas were noted in the vagina. The colposcopic visualization of the cervix and vagina found an aceto-white lesion at the right lateral wall of the upper third of the vagina. Biopsies from three areas were taken. Histological study reported a melanosis of the vagina and HPV infection. An immunohistochemical panel of epithelial markers was performed in vaginal samples, such as Cytokeratin AE1/AE3 and epithelial membrane antigen, mesenchymal marker: vimentin; melanocytic makers: protein S-100 and HMB45 (Human Melanoma Black); proliferating cell marker: proliferating cell nuclear antigen (PCNA), and P-53 oncoprotein. High Risk (16, 18, 31, 45) and Low Risk (6, 11) HPV types were studied by In Situ Hybridization using the same vaginal samples. CK, EMA and Vimentin were 2+. Melanocytic markers, HMB45 and S100, and PCNA were 1+ in basal cell layer. P-53 was negative. The melanotic tissue and acetowhite lesion were positives to HPV Types 6,11. In conclusion, melanosis of the vagina is a uncommon benign pathology. Usually, melanosis is present in women over 40 years old. We present a case of melanosis of the vagina in a young woman infected with low-risk HPV types and review the literature. PMID:21950198

Núñez-Troconis, José; Delgado, Mariela; González, Gerardo; Rivas, Airiaudis; Molero, Katherine

2011-09-01

107

Adrenocortical carcinoma: An extremely uncommon entity and the role of Immunohistochemistry in its diagnosis  

PubMed Central

Adrenocortcal carcinoma is an extremely uncommon entity with an incidence of two in one millionth population. Here we present a 60 year gentleman with pain in abdomen, nausea, and backache, and weight loss. Contrast enhanced computed tomography (CECT) abdomen revealed a heterogenous well defined mass measuring (15 × 10.3 × 13) cm3 on the left suprarenal region with central necrosis which extended medially up to the midline. Locally, the growth infiltrated the upper pole of left kidney. Initially, the differential diagnosis included that of renal cell carcinoma arising from upper pole of left kidney involving adrenal gland. The patient underwent left radical nephrectomy and left adrenalectomy. Histological evaluation could not differentiate it from of malignant pheochromocytoma, but immunohistochemistry confirmed it as adrenocortical carcinoma. This case highlights the crucial role of immunohistochemistry in establishing the diagnosis like tumors.

Gogoi, G.; Baruah, Manash P; Borah, P.; Borgohain, M.

2012-01-01

108

Localized pigmented villonodular synovitis of the shoulder: a rare presentation of an uncommon pathology.  

PubMed

Pigmented Vilonodular Synovitis is a rare clinical entity characterized as a synovial membrane benign tumour, despite possible aggressive presentation with articular destruction. The localized variant is four times less frequent and the shoulder involvement is uncommon. We present the case of a Caucasian 59 year-old patient, who presented with left shoulder pain, of uncharacteristic quality, with local swelling and marked functional limitation of 1 month duration. Shoulder ultrasonography showed subacromial bursitis. An ultrasoundguided aspiration was performed: synovial fluid was citrine-colored and translucid. One month later, the patient maintained swelling, pain and functional impairment of the left shoulder. New shoulder ultrasound revealed exuberant subacromial bursitis, which was again aspirated using ultrasound guidance. The synovial fluid was haematic, without changes in the cell count or biochemical analysis and cultural exams. We performed an injection with 60 mg of hexacetonide triamcinolone. Two months later there was a relapse, with shoulder ultrasonography once more showing subacromial bursitis with extensive synovial membrane proliferation. Shoulder MRI revealed subacromial bursitis involving the anterior, posterior and medial recesses, with deltoid distension, but without tendinous or intra-articular involvement. In the interior of the bursa hypointense images in T2 were observed, suggesting the diagnosis of Pigmented Vilonodular Synovitis. The patient had surgical bursectomy with success and without complications. The histological exam of the operatory piece confirmed the imaging diagnosis. Pigmented Vilonodular Synovitis is uncommon, rarely affecting the shoulder in a localized variant. It is a diagnosis to be considered in shoulder pain, especially if associated with recurrent subacromial bursitis. PMID:24016657

Madruga Dias, João; Costa, Maria Manuela; Duarte, Artur; Pereira da Silva, José A

2013-08-30

109

Gorham's disease of femur  

PubMed Central

Gorham's disease is a rare condition of bones characterized by spontaneous massive and progressive osteolysis. Less than 200 cases have been reported so far. Femur is an uncommon site of Gorham disease. We report a young female, presenting as pathological fracture of the femur, wherein rapid osteolysis of femur occurred. The clinical, pathological, and radiological picture suggested a diagnosis of Gorham's disease. The patient was subjected to radiotherapy (40 Gys) and put on bisphosphonates. At a follow-up of 2 years, the disease process had stopped and partial recalcification of the bone had occurred.

Baba, Asif Nazir; Bhat, Yasmeen J; Paljor, Simon D; Nazir, Abid; Khan, Nazir A

2011-01-01

110

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

111

Visceral Leishmaniasis with Associated Common, Uncommon, and Atypical Morphological Features on Bone Marrow Aspirate Cytology in Nonendemic Region  

PubMed Central

Objectives. The present study was conducted to categorise the morphological features on bone marrow aspirate cytology into common, uncommon, and atypical features in a nonendemic region which would be helpful in clinching an early and correct diagnosis especially in clinically unsuspected cases. Methods. The morphological features on bone marrow were categorized into common, uncommon, and atypical in cases of leishmaniasis from non endemic region. Results. Out of total 27 cases, 77.7% were residents of places at the height of 500?m or above and fever was the most common presentation followed by hepatosplenomegaly. Plasmacytosis, hemophagocytosis were the common cytological features while dysmyelopoiesis, presence of leishmania bodies in nonhistiocytic cells, and granuloma with necrosis were uncommon features. Aggregates of LD bodies in form of ring, floret, or strap shapes along with giant cells constitute the atypical morphological features. Conclusion. The knowledge of common, uncommon, and atypical features on bone marrow aspirate cytology is helpful in clinching an early and correct diagnosis of leishmaniasis especially in non endemic areas where clinical suspicion is low. These features will guide the pathologist for vigilant search of LD bodies in the marrow for definite diagnosis and thus will also be helpful in preventing unnecessary workups.

Chandra, Harish; Kaushik, Rajeev Mohan

2013-01-01

112

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.

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

113

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

PubMed

Several species of Tenebrionidae are stored-grain pests. Since they belong to a specious family, the systematics of these beetles is still in doubt. In insects, spermatogenesis and the spermatozoa exhibit great diversity, and are therefore commonly used in phylogenetic and taxonomic analyses. During the spermatogenetic process in these organisms, the cells originating from a single spermatogonium develop synchronically in groups referred to as cysts. At the end of this process, there is usually only one sperm bundle per cyst, with all the cells in the same orientation. This paper details the spermiogenesis of the tenebrionid beetles Tenebrio molitor, Zophobas confusa, Tribolium castaneum and Palembus dermestoides using whole mount and histological sections of the cysts. In these species, spermatogenesis is similar to that which occurs in most insects. However, during spermiogenesis, the nuclei of the spermatids migrate to two opposite regions at the periphery of the cyst, leading to the uncommon formation of two bundles of spermatozoa per cyst. This feature is possibly an apomorphy for Tenebrionidae. PMID:22821235

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

2012-07-22

114

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.

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

115

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

PubMed

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, Núria; 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; Tardón, 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

2012-01-06

116

Denosumab and anti-angiogenetic drug-related osteonecrosis of the jaw: an uncommon but potentially severe disease.  

PubMed

Osteonecrosis of the jaw (ONJ) is a rare but serious lesion of the jaw characterized by exposed necrotic bone and is related to several drugs usually used for treating patients with advanced malignancies. Common therapies inducing ONJ are nitrogen-containing bisphosphonates (BPs), the human monoclonal antibody to the receptor activator of nuclear factor-kappa B ligand denosumab and some anti-angiogenic drugs, alone or in combination with BPs. The real incidence of ONJ is unknown. Several cases of ONJ in patients with cancer who underwent denosumab therapy have been reported and it seems that the overall incidence of denosumab-related ONJ is similar to that for BP-related in this population, ranging between 1-2%. The cell-surface vascular endothelial growth factor (VEGF) receptor plays a major role in cancer progression and can be targeted by drugs inhibiting the tyrosine kinase activator or other second messengers. Most angiogenesis inhibitors, such as the monoclonal antibody bevacizumab and the kinase inhibitor sunitinib, target the VEGF signaling pathway. Unfortunately, cases of bevacizumab-induced ONJ have been reported, especially in patients treated with bevacizumab and BPs in combination. There are only few studies reporting sunitinib-related ONJs. In patients with advanced cancer and malignancy-associated hypercalcemia undergoing BP, denosumab or bevacizumab therapy, enquiry into current dental health and dental examination is mandatory. Good oral hygiene, limiting of alcohol intake and stopping smoking should be suggested for all patients requiring such treatments. PMID:23645723

Sivolella, Stefano; Lumachi, Franco; Stellini, Edoardo; Favero, Lorenzo

2013-05-01

117

Bilateral adrenal infarction in Crohn's disease  

PubMed Central

Adrenal infarction is an uncommon cause of adrenal insufficiency. We herein present unique occurrence of bilateral adrenal infarction detected on imaging in a young female with known history of Crohn's disease. The patient responded well to steroids and is on follow up. To our knowledge, this is the first case reported in English literature of adrenal infarct associated with Crohn's disease as extraintestinal manifestation.

Khandelwal, Ashish; Krishna, J. Sateesh; Khandelwal, Kanika; Virmani, Vivek; Ryan, John

2013-01-01

118

Scrotal pyoderma gangrenosum associated with Crohn's disease.  

PubMed

Scrotal pyoderma gangrenosum is uncommon. We present a 17-year-old Chinese male patient with newly diagnosed Crohn's disease presenting with scrotal pyoderma gangrenosum. Biopsy and other investigations were done to diagnose and look for associated diseases of pyoderma gangrenosum. Treatment with high-dose prednisolone failed. Subsequent treatment with oral cyclosporine was successful. PMID:20087538

Ho, S A; Tan, W P; Tan, A W; Wong, S N; Chua, S H

2009-12-01

119

Liver Transplantation in Alveolar Hydatid Disease  

Microsoft Academic Search

Alveolar echinococcosis (AE), or alveolar hydatid disease (AHD), is an uncommon parasitic disease which behaves like a malignant tumor of the liver, producing liver necrosis and invading the biliary tract, main hepatic vessels and surrounding structures. Only 25% of the patients are candidates for radical surgical resection, the only currently available definitive treatment. Ortho-topic liver transplantation (OLT) has been performed

M. Suter; M. Gillet

1997-01-01

120

Renal Metastasis From Pulmonary Adenocarcinoma: the Pathologist's Approach to an Uncommon Finding: Case Report and Review of the Literature.  

PubMed

We herein report an uncommon case of renal metastasis from the lung in a 72-year-old man who 2 years before underwent surgical treatment for a pulmonary adenocarcinoma. During follow-up, a computed tomography scan revealed the presence of a solid mass located in the right kidney. Histopathologic and immunohistochemical examination of the enucleated lesion demonstrated the renal localization of an adenocarcinoma of the lung. Clinically recognized renal metastatic lesions from pulmonary cancer are a rare finding with only 35 cases reported to date in the English literature, and renal localization of adenocarcinoma of the lung is extraordinarily uncommon. Together with suggestive clinical data and negativity for markers of adenocarcinomas of different origin, thyroid transcription factor-1, when positive, is considered to be the most reliable marker for the differential diagnosis. PMID:23060303

Scatena, Cristian; Comin, Camilla Eva; Lapini, Alberto; Raspollini, Maria Rosaria

2013-10-01

121

77 FR 74482 - Change in Bank Control Notices; Acquisitions of Shares of a Bank or Bank Holding Company  

Federal Register 2010, 2011, 2012, 2013

...Todd, Rexford, Kansas; Darvin and Tammi Strutt, Colby, Kansas; Sharon and Ronnie Schamberger, Leslea and Brett Oelke, Brittany Schamberger, Taylore Schamberger, Jerry and Melissa Spresser, all of Hoxie, Kansas; Crystal Ann Trauer, trustee of...

2012-12-14

122

Cardiomyopathy Associated with Celiac Disease in Childhood  

PubMed Central

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

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

2012-01-01

123

A case of zosteriform Darier's disease with seasonal recurrence  

PubMed Central

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

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

2013-01-01

124

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

PubMed Central

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

Mehta, Asmita A.; Jose, Wesley; Balamugesh; Christopher, D. J.

2011-01-01

125

Acute posterior circulation infarct due to bicuspid aortic valve vegetation: An uncommon stroke mechanism  

PubMed Central

Acute ischemic stroke may be the first clinical manifestation of the underlying cardioembolic source. We are reporting a 28-year-old man presenting with acute posterior circulation infarct due to underlying bicuspid aortic valve disease with vegetation detected by transesophageal echocardiography in the absence of clinical features of heart disease and infective endocarditis. The case report highlights the importance of routine evaluation of cardioembolic sources in all cases of ischemic stroke.

Suryaprabha, Turaga; Kaul, Subhash; Alladi, Suvarna; Bandaru, VCS Srinivasarao; Singh, Amarpal

2013-01-01

126

Perforated Early Gastric Cancer: Uncommon and Easily Missed a Case Report and Review of Literature  

PubMed Central

Gastric carcinoma rarely presents as a perforation, but when it does, is perceived as advanced disease. The majority of such perforations are Stage III/IV disease. A T1 gastric carcinoma has never been reported to perforate spontaneously in English literature. We present a 56 year-old Chinese male who presented with a perforated gastric ulcer. Intra-operatively, there was no suspicion of malignancy. At operation, an open omental patch repair was performed. Post-operative endoscopy revealed a macroscopic Type 0~III tumour and from the ulcer edge biopsy was reported as adenocarcinoma. Subsequently, the patient underwent open subtotal gastrectomy and formal D2 lymphadenectomy. The final histopathology report confirms T1b N0 disease. The occurrence of a perforated early gastric cancer re-emphasises the need for vigilance, including intra-operative frozen section and/or biopsy, as well as routine post-operative endoscopy for all patients.

Lim, Raymond Hon Giat; Tay, Clifton Ming; Wong, Benjamin; Chong, Choon Seng; Kono, Koji; So, Jimmy Bok Yan

2013-01-01

127

Rosai-Dorfman Disease: A previously unreported association with Sickle Cell Disease  

Microsoft Academic Search

BACKGROUND: Rosai-Dorfman Disease is an uncommon benign systemic histio-proliferative disease. This is the first time the disease, although more common in people of African descent, is described in association with Sickle cell disease. CASE PRESENTATION: A Nigerian boy born started a complex medical history with post-natal anemia of unknown origin. Subsequently he was diagnosed with Sickle Cell Anemia (Hb SS).

Claire Stebbing; Jon van der Walt; Ghada Ramadan; Baba Inusa

2007-01-01

128

Sternobronchial fistula--uncommon complication after coronary surgery (a case report).  

PubMed

The authors describe a case of a 46-year-old man with ischemic heart disease who underwent coronary surgery. After some time span an inflamed wound, several skin fistulae and the system of substernal fistulae appeared. One of these fistulae communicated with the left bronchial tree. PMID:10934783

Mand'ák, J; Lonský, V; Sedlácek, Z

2000-01-01

129

Copper deficiency in celiac disease.  

PubMed

Copper deficiency is an uncommonly reported complication of celiac disease that has not received much attention in recent years. Copper deficiency may result in anemia and thrombocytopenia and also irreversible myeloneuropathy if it is not detected and treated appropriately. The prevalence of copper deficiency in patients with celiac disease is unknown. We describe 5 patients with celiac disease and associated copper deficiency diagnosed at our institution in recent years. All 5 patients had neurologic complications of copper deficiency and 3 patients also presented with hematologic abnormalities. We also review the literature regarding copper deficiency in celiac disease. PMID:18496230

Halfdanarson, Thorvardur R; Kumar, Neeraj; Hogan, William J; Murray, Joseph A

2009-02-01

130

Crohn's disease of the appendix  

PubMed Central

Granulomatous inflammation typifying Crohn's disease was centred within or confined to appendices in six patients, two of whom developed lesions attributable to Crohn's disease elsewhere in the gut. The remaining four patients have remained symptom-free for periods varying from two to six years. Histological evidence of Crohn's disease was also present in five of 46 appendices available for re-examination in a survey of 63 cases of Crohn's enterocolitis. It is adduced that appendiceal involvement in Crohn's disease is not uncommon. ImagesFIG. 1FIG. 2

Wang, T. K.; Tolnai, G.; Campbell, J. S.; Sirois, J.; Liepa, E.

1972-01-01

131

Kienbock's disease and juvenile idiopathic arthritis  

PubMed Central

Kienbock's disease or osteonecrosis of the lunate is an uncommon cause of wrist pain. . Though there have been several reports of cases in patients with various rheumatologic diseases, the precise etiology has currently not been established. We report a case of Kienbock's disease that occurred in a patient with juvenile idiopathic arthritis. To our knowledge, this is the first case report with an association between these two conditions.

Desy, Nicholas M.; Bernstein, Mitchell; Harvey, Edward J.; Hazel, Hazel

2011-01-01

132

Melanoacanthoma: Uncommon presentation of an uncommon condition  

PubMed Central

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

Vasani, Resham J.; Khatu, Swapna S.

2013-01-01

133

Cardiac Amyloidosis Presenting as Ischemic Heart Disease  

Microsoft Academic Search

Cardiac amyloidosis can have varied clinical presentations, but it uncommonly leads to typical angina. The exact cause of ischaemia in this condition is not known, though various mechanisms have been postulated. We describe here a case of cardiac amyloidosis, proven by endomyocardial biopsy, which presented as ischaemic heart disease, and we also review the literature on the same.Copyright © 1993

R. Narang; P. Chopra; H. S. Wasir

1993-01-01

134

The surgical treatment of gastroduodenal Crohn's disease.  

PubMed Central

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

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

1985-01-01

135

Fever revealing Behçet's disease: Two new cases  

Microsoft Academic Search

Behçet's disease (BD) is an uncommon cause of fever of unknown origin. We report two cases, both involving 42-year-old males, who initially presented with prolonged fever and who were ultimately diagnosed as having BD after a delay of 12 and 21 months, respectively. Both patients developed pulmonary aneurysms. Although fevers resolved after therapy, both patients died within the first year after

H. Harmouche; M. Maamar; I. Sahnoune; Z. Tazi-Mezalek; M. Aouni; A. Maaouni

2007-01-01

136

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

PubMed Central

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

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

2013-01-01

137

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

SciTech Connect

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

Watson, R.

1995-07-01

138

Hypopituitarism, deficiency of factors V and VIII and von Willebrand factor: an uncommon association.  

PubMed

A 9 year-old boy with hypopituitarism and blood coagulation abnormalities is presented and discussed. The association between acquired von Willebrand disease and hypothyroidism has been reported but the combination of hypopituitarism and coagulopathy is unusual. Combined multiple clotting deficiencies are rare and, when present, factors V and VIII is the commonest association. Although it is known that hypothyroid patients may have a decrease in von Willebrand's factor (vWf) and factor VIII, there are no reports of hypopituitarism associated with combined deficiency of factors V, VIII, and vWf. PMID:11926206

Setian, Nuvarte; Tanaka, Caroline M; Damiani, Durval; Dichtchekenian, Vaê; Carneiro, Jorge D A; D'Amico, Elbio A

2002-03-01

139

Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland--case report and review.  

PubMed

Primary hyperparathyroidism (PHPT) is a common endocrine disorder that mainly affects middle-aged women. Patients are usually asymptomatic. The disease might be ascribable to hyperplasia, carcinoma, and single or multiple adenomas. PHPT may be sporadic or familial, the latter comprising multiple endocrine neoplasia type 1 or 2A, familial benign hypocalciuria hypercalcemia, and hyperparathyroidism-jaw tumor syndrome. The most common causes for persistent PHPT are multiglandular disease, and missed abnormal ectopic or orthotopic parathyroid glands. Imaging localization studies should precede a new surgical intervention. Ectopic parathyroid glands are rarely located at the aortopulmonary window. For diagnosis confirmation, (99m)Tc-sestamibi SPECT/CT seems to be an advantageous test. Another possibility is to perform (99m)Tc-sestamibi followed by thoracic CT or MRI. Parathyroidectomy may be performed by means of median sternotomy, thoracotomy, or video-assisted thoracoscopy. We describe a case of persistent primary hyperparathyroidism due to the presence of an ectopic parathyroid gland found at the aortopulmonary window. As the investigation necessary to clarify the etiology of recurrent nephrolithiasis proceeded, the diagnosis of PHPT was determined. The patient underwent subtotal parathyroidectomy; nevertheless, PHPT persisted. Genetic syndromes that could account for this condition were excluded. Imaging studies available at that time were not able to locate abnormal glands; moreover, the patient refused to undergo surgical exploration. Later, the patient underwent (99m)Tc-sestamibi SPECT/CT, which revealed a parathyroid gland at the aortopulmonary window. PMID:22990645

Gouveia, Sofia; Rodrigues, Dírcea; Barros, Luísa; Ribeiro, Cristina; Albuquerque, Anabela; Costa, Gracinda; Carvalheiro, Manuela

2012-08-01

140

Drug-Induced Nephrotoxicity in Inflammatory Bowel Disease  

Microsoft Academic Search

Conservative management of inflammatory bowel disease (IBD) is based on a combination of drugs, including aminosalicylates (ASAs), steroids, antibiotics, immunosuppressives and biologic agents. Although various side effects have been related to treatment regimens, drug-induced nephrotoxicity is rather uncommon. Furthermore, it is often underestimated since renal function deterioration may be attributed to the underlying disease. The nephrotoxicity of ASAs and cyclosporine

Konstantinos A. Oikonomou; Andreas N. Kapsoritakis; Ioannis Stefanidis; Spyros P. Potamianos

2011-01-01

141

Asymptomatic retropharyngeal abscess related to cervical Pott's disease  

Microsoft Academic Search

Pott's disease is an uncommon manifestation of tuberculosis, which usually involves thoracic or lumbar vertebrae. The body of the vertebrae is most severely affected and a compression fracture is an almost inevitable consequence of the disease. A paravertabral abscess generally accompanies vertebral involvement. Tenderness over the involved vertebrae, weakness of the related muscles, and paraesthesia are the usual symptoms. In

Fatih Öktem; M. Güven Güvenç; Süleyman Y?lmaz; D. Tuna Edizer; Batuhan Kara

2006-01-01

142

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

PubMed

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

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

2012-06-22

143

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

PubMed Central

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

Panda, Mukta

2007-01-01

144

Tumor-like manifestation, uncommon form of multiple sclerosis: report of a patient.  

PubMed

Multiple Sclerosis (MS) is a demyelinating disease of the central nervous system, characterised by focal neurological dysfunction with relapsing and remitting course. Acute widespread or tumor-like manifestation is one of the rare clinical variants and has poor prognosis. Here, the authors report a 36-year-old man who presented with left hemifacial and left hemibody anesthesia for one month. His symptoms gradually progressed MRI brain showed multiple large hypersignal intensity lesions in both right and left frontoparietal lobes, surrounding with brain edema. Brain biopsy showed perivenous infiltration of mature lymphocyte with demyelination. He was dramatically improved with high dose steroid. However, he later developed transverse myelitis syndrome. The second MRI showed new foci in both sides of splenium of corpus callosum and T9-10 spinal cord. The findings were compatible with an unusual form of multiple sclerosis that is rarely seen. PMID:16756061

Lolekha, P; Kulkantrakorn, K

2006-05-01

145

Primary neuroendocrine tumors of the kidney: morphological and molecular alterations of an uncommon malignancy.  

PubMed

Primary neuroendocrine (NE) tumors of the kidney (PNRTs) are rare and frequently mistaken for other renal and urothelial cancers. We evaluated morphological and molecular findings of 11 PNRTs classified according to the World Health Organization classification of lung NE tumors. Patients included 5 men and 6 women with a median age of 50 years. These tumors occurred in the left (5/11), right (3/11), and horseshoe (1/11) kidney. The histologic patterns were predominantly solid, trabecular, and pseudoglandular. Lymphovascular invasion and calcification were found in 3 and 1 cases, respectively. There were 2 atypical and 9 typical carcinoids. At the time of surgery, 2 patients with atypical carcinoids had hepatic metastasis, and 1 of the typical carcinoid patients had lymph node metastasis. All cases showed <1% proliferative rate, except 2 cases with hepatic metastasis, which showed 3% to 5% with MIB1/Ki-67 immunostaining. Immunostainings were frequently positive for synaptophysin, chromogranin, CD56, CD99, and neuron-specific enolase. Follow-up data (average 4 years) were available for 6 patients. Two patients with distant metastasis were alive with disease, and four patients with no metastasis were alive without disease. We evaluated the association of PNRT and loss of heterozygosity (LOH) on chromosome 3p21 and found LOH in 2 of 3 cases. However, the comparative genomic hybridization study (2/2) did not demonstrate significant chromosomal imbalances. We conclude that PNRTs are positive for NE markers and may have LOH on chromosome 3p21. PNRTs should be classified as NE tumors in other sites, and proliferative rate can be an indicator of aggressive behavior/metastasis. PMID:23199527

Aung, Phyu P; Killian, Keith; Poropatich, Carrie O; Linehan, W Marston; Merino, Maria J

2012-11-28

146

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.

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

2012-01-01

147

Pheochromocytoma: an uncommon presentation of an asymptomatic and biochemically silent adrenal incidentaloma.  

PubMed

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

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

2012-04-01

148

Metastatic primary neuroendocrine carcinoma of the genitourinary tract: A case report of an uncommon entity  

PubMed Central

Patient: Male, 59 Final Diagnosis: Neuroendocrine carcinoma of urinary bladder Symptoms: Dysuria • hematuria Medication: – Clinical Procedure: MRI • cystoscopy Specialty: Urology • oncology Objective: Rare disease Background: Neuroendocrine carcinomas of the genitourinary tract are rare but distinct and important entities because they are very aggressive tumors and are usually advanced or metastatic at the time of diagnosis. A high index of suspicion must be held by the pathologist viewing the specimen, as it can easily be misdiagnosed as a high grade urothelial carcinoma. Specific, proven treatment algorithms have been formulated over the years for the latter, whilst neuroendocrine carcinomas of the genitourinary tract are rare and treatment regimes have not yet been proven to show a significant improvement in survival in the majority of cases, so accurate diagnosis is important. Case Report: We report the case of a 59-year-old man who presented with a short history of dysuria and frank hematuria. Imaging and cystoscopy revealed a large exophytic mass in the base of the urinary bladder, which extended into the bladder neck. Metastatic deposits were already present in his liver and vertebrae. Histology revealed a neuroendocrine carcinoma. Conclusions: A comprehensive review of the existing literature regarding this rare but aggressive tumor is presented, including advances in classification, pathogenesis, and treatment.

Jaggon, Jacqueline R.; Brown, Trudy-Ann; Mayhew, Richard

2013-01-01

149

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

PubMed Central

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

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

2012-01-01

150

Giant condyloma of the cervix: an uncommon entity associated with low-risk human papilloma virus infection.  

PubMed

"Giant Condylomas" of the cervix are very uncommon, and have not been fully characterized in the English literature. We report 4 cases of cervical giant condyloma seen in our practice. Patients were predominantly young and presented with a cervical lesion producing bleeding or a mass effect. Biopsy/excision revealed a uniformly bland, exophytic squamous epithelial proliferation with viral cytopathic changes and absence of stromal invasion. Human papilloma virus types 6 and 11 were detected in all cases. Follow-up was uneventful without recurrence or spread. Giant condylomas of the cervix as defined in this report signify a benign albeit extensive variant of low-risk human papilloma virus infection. This term is proposed as a specific descriptor for such lesions and should be considered in the setting of any large well-differentiated exophytic cervical squamous lesion in young or immunosuppressed women. The term "giant condyloma of Buschke and Loewenstein" should be discontinued given the lack of specificity. PMID:23282973

Parra-Herran, Carlos; Herfs, Michael; Doria, Manuel; Crum, Christopher P; Nucci, Marisa R

2013-02-01

151

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

PubMed

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

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

2013-05-23

152

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

PubMed Central

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

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

2013-01-01

153

[Alzheimer's disease: early diagnosis].  

PubMed

Alzheimers disease and the other forms of dementia are frequently ignored in the general population, particularly after 80 years. This under-diagnosis concerns approximately one of every two patients, and is particularly common in early-stage dementia, in which only one of every three patients is diagnosed. Under-diagnosis is due to patients and families not consulting, as well as to diagnosis procedures not being performed by the general practitioner to explore cognitive complaint. However, once they have been initiated, the diagnostic procedures are adequately performed, and over-diagnosis is uncommon. PMID:22039727

Dartigues, Jean-François

2011-09-01

154

Hodgkin's disease manifesting as prurigo nodularis.  

PubMed

Prurigo nodularis is an uncommon pediatric cutaneous disorder that is associated with intense pruritus. We report a teenager with prurigo nodularis as the presenting sign of stage IIA Hodgkin's disease, primarily in the mediastinum. The pruritus and associated cutaneous lesions resolved with combination chemotherapy directed at the malignancy. In patients with prurigo nodularis and pruritus of unclear etiology, the possibility of underlying Hodgkin's disease must be considered. PMID:2359730

Shelnitz, L S; Paller, A S

1990-06-01

155

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

PubMed Central

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

2011-01-01

156

A case of adult-onset Still’s disease complicated with atypical pulmonary defect  

Microsoft Academic Search

Adult-onset Still’s disease (AOSD) is an uncommon inflammatory condition of unknown origin and pathogenesis. Pulmonary involvement\\u000a is rare and includes pleural effusion and transient pulmonary infiltrates. We describe and discuss difficulties in the diagnosis\\u000a of severe respiratory symptoms with uncommon radiological and histological findings and serious prognostic implication in\\u000a a 24-year-old woman with a severe form of AOSD with destructive

Yousra Ibn Yacoub; Bouchra Amine; Najia Hajjaj-Hassouni

2011-01-01

157

Inflammation surrounding the vertebral spinous processes as spondylarthritis in Behçet's disease.  

PubMed

Here, we present two Behçet's disease (BD) patients with an uncommon complication: inflammation surrounding the spinous processes revealed by positron emission tomography/computed tomography (PET/CT). Both patients were treated successfully with 20 mg of prednisolone daily. Whether BD should be considered a form of spondylarthritis remains an open question. However, inflammation around the spinous processes should be regarded as a possible uncommon finding of seronegative spondyloarthropathy (SpA) in BD patients. PMID:22797948

Yamashita, Hiroyuki; Kubota, Kazuo; Takahashi, Yuko; Kaneko, Hiroshi; Kano, Toshikazu; Mimori, Akio

2012-07-14

158

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.

159

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.

2010-01-01

160

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.

2010-01-01

161

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.

2010-01-01

162

Subtracting with Uncommon Denominators  

NSDL National Science Digital Library

Teachers can use this interactive tool to help students build a conceptual understanding of subtracting fractions with unlike denominators by linking visual models to procedures. Students make use of fractions with a value of one. The page includes a video demonstration of the tool. Free registration is required to use the tool. A paid subscription is necessary to access full curriculum and allow full student use.

2011-01-01

163

An Uncommon Cottage  

ERIC Educational Resources Information Center

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

Carlson, Scott

2008-01-01

164

THE UNCOMMON SCHOOL.  

ERIC Educational Resources Information Center

|IN THIS ADDRESS CYRIL O. HOULE SPOKE ON AN EPISODE IN THE HISTORY OF ADULT EDUCATION, FOCUSING PARTICULARLY ON THE LIFE AND IDEAS OF HENRY D. THOREAU. HE DISCUSSED JOSIAH HOLBROOK, A CONNECTICUT SCHOOLMASTER, AND CREATED AN AMERICAN LYCEUM, NATIONWIDE IN ITS SCOPE, LINKING TOGETHER ALL THOUGHTFUL AND CULTIVATED MEN IN THE CONTINUING PURSUIT OF…

HOULE, CYRIL O.

165

Extramammary Paget's Disease of External Genitalia with Bowenoid Features  

PubMed Central

Extramammary Paget's disease (EMPD) is an uncommon intraepithelial adenocarcinoma, primarily affecting the apocrine-bearing skin. Bowen disease is an intraepithelial squamous cell carcinoma having the potential to become invasive carcinoma. The histopathological concomitant features between EMPD and Bowen disease have been described. One theory is that primary EMPD arises multicentrically, within the epidermis from the pluripotent stem cells. Herein, we describe a case of EMPD that had bowenoid features, and review the previous cases associated with the origin of EMPD.

Chung, Jimin; Kim, Jee Young; Gye, Jiwon; Namkoong, Sun; Hong, Seung Phil; Park, Byung Cheol

2013-01-01

166

Vitamin B12 deficiency in untreated celiac disease  

Microsoft Academic Search

OBJECTIVES:Iron and folate malabsorption are common in untreated celiac disease as the proximal small intestine is predominantly affected. Vitamin B12 deficiency is thought to be uncommon, as the terminal ileum is relatively spared. This study aims to investigate the prevalence of vitamin B12 deficiency in patients with untreated celiac disease.METHODS:Prospective study of 39 consecutive biopsy-proven celiac disease patients (32 women,

Anna Dahele; Subrata Ghosh

2001-01-01

167

Pneumatosis cystoides intestinalis as a complication of celiac disease  

Microsoft Academic Search

Pneumatosis cystoides intestinalis (PCI) is an uncommon but important condition characterized by the presence of gas-filled cysts in the submucosa and subserosa of the gastrointestinal tract. PCI has been associated with several clinical settings. We report a case where PCI developed in a patient with known celiac disease. To our knowledge, this type of coincidence has been described in seven

A. Terzic; F. Holzinger; Ch. Klaiber

2001-01-01

168

Pretibial mucinosis in a patient without Graves disease.  

PubMed

Although an uncommon location, cutaneous mucinoses may present in the pretibial area in distinct clinical circumstances. The terms pretibial myxedema and pretibial mucinosis often are used interchangeably, but pretibial myxedema should be regarded as a type of pretibial mucinosis. We present a case of cutaneous mucinosis localized to the pretibial area of a patient without Graves disease. PMID:22372171

Mir, Mohsin; Jogi, Reena; Rosen, Ted

2011-12-01

169

Encephalitis in cat scratch disease with persistent dementia.  

PubMed Central

Encephalitis in cat scratch disease is uncommon and usually reversible. The patient with cognitive impairment and severe memory disorder did not improve after a 30 month follow up. MRI revealed disseminated lesions in the white matter of the cerebral hemispheres. Images

Revol, A; Vighetto, A; Jouvet, A; Aimard, G; Trillet, M

1992-01-01

170

Clustering of invasive Aspergillus ustus eye infections in a tertiary care hospital: a molecular epidemiologic study of an uncommon species.  

PubMed

Aspergillus infections are being increasingly recognized as an important cause of morbidity and blindness. We report here the first cluster of Aspergillus ustus endophthalmitis cases which occurred in a large tertiary care hospital during the period October 2003 to June 2004. In three of the cases, the patients required enucleation following cataract surgery, while the fourth involved a fatal infection in a pediatric patient hospitalized for osteopetrosis. Patient charts from the four cases were reviewed retrospectively and indicated that postoperative signs of fungal endophthalmitis developed in the patients 1-11 weeks after surgery. The molecular characterization of the isolates and their epidemiological relatedness were evaluated by Random Amplification of Polymorphic DNA (RAPD). A source investigation of this mini outbreak was performed by environmental sampling, but no isolates of A. ustus were recovered from these studies. All A. ustus strains isolated from three patients with fungal endophthalmitis had the same RAPD pattern suggesting a common source. The strain from the pediatric patient differed from the ophthalmic isolates in five electrophoretic loci. The latter was included solely as an outbreak, unrelated control to evaluate the discriminatory power of the molecular typing method employed in the analysis of the ophthalmic strains. These cases illustrate the potential for uncommon species like A. ustus to cause high morbidity and mortality in some clinical settings. Aspergillus ustus endophthalmitis is a serious and devastating complication of ocular surgery. It is unknown whether ongoing hospital construction may have contributed to this cluster of cases. Random amplification of polymorphic DNA may give valuable clues about the clonality of A. ustus strains. PMID:17510862

Saracli, M A; Mutlu, F M; Yildiran, S T; Kurekci, A E; Gonlum, A; Uysal, Y; Erdem, U; Basustaoglu, A C; Sutton, D A

2007-06-01

171

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

PubMed

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; Hooshiar Kashani, Baharak; Perego, Ugo A; Woodward, Scott R; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B; Torroni, Antonio

2013-07-31

172

Infectious diseases in internationally adopted children: findings in children from China, Russia, and eastern Europe.  

PubMed

Conditions in many orphanages provide a fertile environment for infectious diseases uncommonly encountered in industrialized nations. Moreover, health care providers may be unfamiliar with the need to test for these conditions in internationally adopted children. Pediatric infectious disease specialists provide much-needed expertise for parents and providers alike. PMID:10079853

Hostetter, M K

1999-01-01

173

Silicone in HIV-1-infected patients: a cause of misdiagnosed granulomatous disease.  

PubMed

Granulomatous diseases are common in HIV-infected patients and are usually related to opportunistic infectious or tumoral conditions. We report three cases of uncommon granulomatous disease in HIV-infected patients who had previously received silicone and for which diagnostic investigations remained negative. PMID:20303811

Males, Sylvia; Joly, Veronique; Adle-Biassette, Homa; Abgrall, Sophie; Lariven, Sylvie; Leboulanger, Nicolas; Yeni, Patrick

2010-03-20

174

Extracranial carotid aneurysm in Behçet disease: Report of two new cases.  

PubMed

Extracranial carotid aneurysm due to Behçet disease is extremely rare. To our knowledge, this complication has been previously reported in only 12 cases. We report two new cases of extracranial carotid aneurysm in Behçet disease and discuss the clinical features, therapeutic modalities, and postoperative complications of these uncommon lesions. PMID:16520185

Bouarhroum, Abdellatif; Sedki, Nabil; Bouziane, Zakaria; El Mahi, Omar; El Idrissi, Redouane; Lahlou, Zineb; Lekehel, Brahim; Sefiani, Yasser; El Mesnaoui, Abbas; Benjelloun, Amira; Ammar, Fanid; Bensaïd, Younes

2006-03-01

175

Isolated cavitary lung disease in a renal allograft recipient: A rare manifestation of cryptococcus.  

PubMed

Although lungs are the portal of entry for cryptococcus, pulmonary disease is relatively uncommon. Cavitary pulmonary disease is even less common. We report a rare case of cryptococcosis with an isolated cavitary lung lesion in a renal allograft recipient. PMID:24049280

Sandhu, J S; Makkar, V; Sohal, P M; Singh, A; Kaur, H; Sandhu, J

2013-09-01

176

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

SciTech Connect

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

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

1987-10-01

177

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

PubMed Central

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.

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

2007-01-01

178

Extra mammary Paget's disease of the vulva  

PubMed Central

Extra mammary Paget's disease (EMPD) is a rare condition, which affects postmenopausal women. Wide local excision may not be appropriate in elderly patients with extensive disease. It is an uncommon malignant neoplasia with a high local recurrence rate. The standard treatment is local excision of the affected area with adequate margins; however, 40~45% of cases recur after surgery within 4 years. Although surgery is currently considered the preferred primary treatment for EMPD, it has a high relapse rate due to the multifocal nature of the disease. Hence, RT in selected cases of EMPD of vulva may be beneficial.

Barmon, Debabrata; Kataki, Amal Chandra; Imchen, Lima; Sharma, Jagannath Dev

2012-01-01

179

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

SciTech Connect

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

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

1992-12-31

180

Headaches related to rheumatologic disease.  

PubMed

Headaches are a common, but under-recognized and understudied symptom in the context of the rheumatic diseases. They can result from intracranial pathology, such as parenchymal and meningeal inflammation, thrombosis, space-occupying lesions, and more. Inflammation, irritation, or degeneration of anatomically related structures such as the eyes, neck, and sinuses can equally cause headaches. In addition, patients with rheumatologic disorders have the same tendencies as the general population to develop primary headaches. While the latter are benign in nature, and generally require only symptomatic relief, the former type of headaches may signal disease manifestation, progression, or complication. Thus, familiarity with common and uncommon headache syndromes related to rheumatologic disorders as well as with their possible underlying disease processes and mechanisms is important. This will help to successfully develop an effective approach toward the evaluation of patients presenting with headaches in a rheumatologic context, and, ultimately, diagnose and treat potentially severe underlying disease. PMID:24163052

Schwartz, Noa; Mitnick, Hal J; Nowatzky, Johannes

2013-12-01

181

Health maintenance and vaccination strategies in pediatric inflammatory bowel disease.  

PubMed

The development of inflammatory bowel disease during childhood and adolescence is not uncommon. As advances in medical therapies continue to emerge, so does the recognition that treatment goals must include achieving and maintaining childhood wellness. Preservation of normal linear growth, development and psychosocial wellbeing along with appropriate vaccination and preventative care strategies are elements critical to assuring the complete health of the pediatric patient who is affected by inflammatory bowel disease. PMID:23689807

Breglio, Keith J; Rosh, Joel R

2013-07-01

182

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

183

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.

Hassan, Imad Salah; Dar, Javeed

2011-01-01

184

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

185

Sexually transmitted diseases in children in India.  

PubMed

Sexually transmitted diseases (STDs) in children are not uncommon in India, though systematic epidemiological studies to determine the exact prevalence are not available. STDs in children can be acquired via sexual route or, uncommonly, via non-sexual route such as accidental inoculation by a diseased individual. Neonatal infections are almost always acquired intrauterine or during delivery. Voluntary indulgence in sexual activity is also an important factor in acquisition of STDs in childhood. Sexual abuse and sex trafficking remain the important problems in India. Surveys indicate that nearly half of the children are sexually abused. Most at risk children are street-based, homeless or those living in or near brothels. Last two decades have shown an increase in the prevalence of STDs in children, though most of the data is from northern part of the country and from major hospitals. However, due to better availability of antenatal care to majority of women, cases of congenital syphilis have declined consistently over the past two-three decades. Other bacterial STDs are also on decline. On the other hand, viral STDs such as genital herpes and anogenital warts are increasing. This reflects trends of STDs in the adult population. Concomitant HIV infection is uncommon in children. Comprehensive sex education, stringent laws to prevent sex trafficking and child sexual abuse, and antenatal screening of all the women can reduce the prevalence of STDs in children. PMID:20826987

Dhawan, Jyoti; Gupta, Somesh; Kumar, Bhushan

186

Adenosine-Sensitive Wide-Complex Tachycardia: An Uncommon Variant of Idiopathic Fascicular Ventricular TachycardiaA Case Report  

Microsoft Academic Search

Most wide-complex tachycardias encountered in the emergency department (ED) are ventric ular in origin, most commonly associated with structural heart disease. Ventricular tach yarrhythmias range in severity from life-threatening rhythms (eg, ventricular fibrillation and hemodynamically compromising ventricular tachycardia [VT]) to idiopathic forms of VT, which have a benign clinical course and a more favorable prognosis. The authors present the case

John Kassotis; Todd Slesinger; Emir Festic; Louis Voigt; C. V. R. Reddy

2003-01-01

187

Hematologic manifestations of liver disease.  

PubMed

The liver plays a key role in both protein biosynthesis and lipid metabolism. As a result, hepatic synthetic dysfunction can have adverse effects on both cellular and soluble components of blood. Anemia may occur due to the hemolysis of acanthocytes (spur cells), which is ultimately due to abnormal lipid composition of the red blood cell membrane. Thrombocytopenia may result from several different mechanisms. Cytopenias also may be a consequence of hypersplenism. The liver is the primary site for synthesis of most procoagulant and anticoagulant proteins. The coagulopathy of liver disease is therefore complex. Early in the course of liver disease, thrombocytopenia and a coagulopathy associated with a prothrombotic state are not uncommon, whereas with more advanced disease pancytopenia and coagulopathy associated with hemorrhage become manifest. Fresh frozen plasma and adjuncts to hemostasis may be used as temporizing measures in bleeding patients. However, definitive management of many of the defects due to fulminant hepatic failure requires liver transplantation. PMID:23953338

Marks, Peter W

2013-07-01

188

Cutaneous Manifestations in Inflammatory Bowel Diseases: Eight Cases of Psoriasis Induced by Anti-Tumor-Necrosis-Factor Antibody Therapy  

Microsoft Academic Search

Background: Ulcerous rectocolitis and Crohn’s disease are the best known forms of inflammatory bowel disease (IBD). Skin manifestations are not uncommon in IBD and may be divided into specific cutaneous signs, aspecific cutaneous signs, and cutaneous signs caused by drugs used for IBD therapy. The specific signs (fistulas, rhagades and ulcers) are the result of the diffusion of the intestinal

Beatrice Passarini; Salvatore Domenico Infusino; Elena Barbieri; Elisa Varotti; Paolo Gionchetti; Fernando Rizzello; Claudia Morselli; Rosy Tambasco; Massimo Campieri

2007-01-01

189

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS  

PubMed Central

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

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

2010-01-01

190

Celiac disease and cardiomyopathy in an adolescent with occult cirrhosis  

PubMed Central

Patients with celiac disease commonly present with gastrointestinal symptoms including abdominal pain, bloating, constipation or diarrhea. Extraintestinal manifestations of this small bowel disease are increasingly recognized, and greater numbers of patients are being diagnosed after presenting solely with nongastrointestinal symptoms. The present report describes a case involving a 16-year-old girl with oligomenorrhea who was found to have celiac disease and liver cirrhosis of unknown etiology. Subsequent evaluation revealed cardiac dysfunction consistent with cirrhotic cardiomyopathy, a rare finding in the paediatric population. This patient’s unusual presentation permits an exploration of several conditions uncommonly reported in conjunction with celiac disease.

Roumeliotis, Nadia; Hosking, Martin; Guttman, Orlee

2012-01-01

191

Skin manifestations of Kikuchi-Fujimoto disease: case report and review  

Microsoft Academic Search

Kikuchi-Fujimoto disease (KFD) is a histiocytic necrotising lymphadenitis, which is a benign disease of unknown aetiology. Misdiagnosing KFD as lymphoma or systemic lupus erythematosus is not uncommon due to the similarity of clinical and histopathological features of these diseases. A 12-year-old female suffered from cervical lymphadenopathy, leukocytopenia, fever and especially skin rash. The biopsy of the lymph node was compatible

Hung-Rong Yen; Pen-Yi Lin; Wen-Yu Chuang; Min-Lin Chang; Cheng-Hsun Chiu

2004-01-01

192

Noninfectious diseases, metabolic diseases, toxicities, and neoplastic diseases of South American camelids.  

PubMed

Although the SAC generally are healthy and tolerant of a wide variety of management schemes, a number of noninfectious diseases have been documented to occur, affecting all body systems. Gastrointestinal diseases appear to be the most common afflictions, particularly dental diseases, indigestion, ulceration of the third compartment, and the various causes of colic, such as enteritis, peritonitis, and intestinal accidents. Diseases of the urinary system (urolithiasis, amyloidosis, and glomerulonephritis in particular), the nervous system (especially various compressive lesions of the spinal cord), and the respiratory system (such as obstructive pulmonary diseases) are not uncommon. Diseases of the cardiovascular system (other than congenital defects), hemolymphatic system, and nonsurgical diseases of the musculoskeletal system only rarely are encountered. Heat stress appears to be a very common problem in certain areas, but other metabolic diseases (ketosis, hypocalcemia, and hypothyroidism) are of minor importance. It is assumed that SAC are susceptible to most of the same toxicities that affect domestic livestock species. The best documented examples appear to be the Ericaceae family of plants (laurels, rhododendrons, and so on) and the organophosphate chlorpyrifos. Neoplasia occasionally is seen; examples include lymphosarcoma, gastric squamous cell carcinoma, and adenocarcinoma. As the longevity of these species increases because of their pet status, neoplasia can be expected to become more common. The treatment of most of these conditions is based upon extrapolation from domestic ruminants. PMID:2647230

Smith, J A

1989-03-01

193

[Hepatic fascioliasis. Uncommon cause of prolonged febrile syndrome with hypereosinophilia and hypodense images on computed tomography of the liver].  

PubMed

A 40 year old man was admitted with prolonged fever, hypereosinophilia, increased serum levels of cholestasis enzymes and low density masses in the hepatic computed tomography (CT). A liver needle biopsy was performed under CT control. Neoplastic, pyogenic or amoebic etiology were excluded. Stool parasitologic examination was also negative. A diagnosis of hepatic fasciolasis was based on the finding of operculate eggs in duodenal juice obtained by duodenal aspiration. The patient was successfully treated with triclabendazole (10/mg/kg/single dose). The purpose of this communication is to emphasize 1) that prolonged fever with hypereosinophilia and focal lesions in hepatic CT suggest the presence of fasciola hepatica which must be investigated particularly in duodenal juice; 2) the CT aspects of this disease; 3) that triclabendazole, a benzimidazolic compound, is a new therapeutic possibility acting on immature and adult forms of the parasite in the liver. PMID:1821909

Melero, M; Rigou, R C; Lloveras, J; Gennaro, O

1991-01-01

194

Weaning from prolonged invasive ventilation in motor neuron disease: analysis of outcomes and survival  

Microsoft Academic Search

IntroductionNon-invasive ventilation (NIV) improves prognosis in patients with motor neuron disease (MND) in the absence of major bulbar involvement. However, some experience a rapid and unexpected decline in respiratory function and may undergo emergency tracheal intubation. Weaning from invasive ventilation can be difficult, and reported independence from invasive ventilation is uncommon with poor prognosis. The outcomes of patients with MND

R. Chadwick; Vidya Nadig; Nicholas S Oscroft; John M Shneerson; Ian E Smith

2010-01-01

195

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

196

Chylothorax and chylopericardium in Behçet's diseases: case report and literature review.  

PubMed

Behçet's disease (BD) with chylothorax and/or chylopericardium is uncommon. Here, we report a case of a 32-year-old man suffering BD with chylothorax and chylopericardium complications. We also review the literature and discuss clinical characteristics, possible pathogenesis, and treatment strategy of patients suffering BD with chylothorax and/or chylopericardium complications. PMID:23588879

Zhang, Lu; Zu, Ning; Lin, Bing; Wang, Guochun

2013-04-16

197

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

PubMed Central

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

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

2012-01-01

198

Case report Rosai-Dorfman disease: unusual cause of diffuse and massive retroperitoneal lymphadenopathy  

Microsoft Academic Search

Rosai-Dorfman disease (RDD), originally described as sinus histiocytosis with massive lymphadeno- pathy, is a rare histiocytic proliferative disorder with a distinctive microscopic appearance. Patients usually present with massive cervical lymphadenopathy. However other nodal sites (mediastinal and inguinal) are also frequently involved. The retro-peritoneum is an infrequent site of involvement. This uncommon entity should also be included in the list of

K S SODHI; S SURI; R NIJHAWAN; M KANG; V GAUTAM; Gynaecological Pathology

199

Zygomycetes in Human Disease  

PubMed Central

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

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

2000-01-01

200

Transitional Cell Carcinoma of the Kidney Graft: An Extremely Uncommon Presentation of Tumor in Renal Transplant Recipients  

PubMed Central

Purpose. Transitional cell carcinoma (TCC) affecting the graft after renal transplantation is a very infrequent way of presentation of this tumor. Our aim is to present our single institution experience with 2 cases, as well as to perform a review of the literature about this tumor after the transplant. Materials and Methods. TCC of the graft developed in 2 of 1365 patients from 1977 to 2010, both cases in women. Data were analyzed for incidence, clinical presentation, treatment, and outcomes. Results. Both cases occurred in 2 mid-age women and resulted to be high grade and locally advanced TCCs, representing an incidence of 0,14% (2/1365). Clinical presentation was urinary obstruction for the first case and incidental ultrasound finding for the second. Preoperative staging was made with CT, cytology, pyelography, ureterorenoscopy, and biopsy. Treatment performed was nephroureterectomy of the graft with bladder cuff and regional lymphadenectomy. Pathological examination showed in both cases a locally advanced and high grade urothelial carcinoma of the pelvis allograft. After 24 and 14 months of followup, both patients are disease free. Conclusions. TCC of the kidney graft is an infrequent tumor that has only been reported in a few cases in the literature. It usually appears at a lower age, more often locally advanced, and with poor differentiation. A multidisciplinary approach to treatment should be required in these cases.

Gomez, Victoria; Alvarez, Sara; Diez Nicolas, Victor; Gomez del Canizo, Carmen; Orosa, Andrea; Galeano Alvarez, Cristina; Burgos Revilla, F. J.

2013-01-01

201

Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.  

PubMed

Adiponectin is an adipocyte-secreted protein involved in a variety of metabolic processes, including glucose regulation and fatty acid catabolism. We conducted a genome-wide association study to investigate the genetic loci associated with plasma adiponectin in 1776 unrelated Filipino women from the Cebu Longitudinal Health and Nutrition Survey (CLHNS). Our strongest signal for adiponectin mapped to the gene CDH13 (rs3865188, P ? 7.2 × 10(-16)), which encodes a receptor for high-molecular-weight forms of adiponectin. Strong association was also detected near the ADIPOQ gene (rs864265, P = 3.8 × 10(-9)) and at a novel signal 100 kb upstream near KNG1 (rs11924390, P = 7.6 × 10(-7)). All three signals were also observed in 1774 young adult CLHNS offspring and in combined analysis including all 3550 mothers and offspring samples (all P ? 1.6 × 10(-9)). An uncommon haplotype of rs11924390 and rs864265 (haplotype frequency = 0.050) was strongly associated with lower adiponectin compared with the most common C-G haplotype in both CLHNS mothers (P = 1.8 × 10(-25)) and offspring (P = 8.7 × 10(-32)). Comprehensive imputation of 2653 SNPs in a 2 Mb region using as reference combined CHB, JPT and CEU haplotypes from the 1000 Genomes Project revealed no variants that perfectly tagged this haplotype. Our findings provide the first genome-wide significant evidence of association with plasma adiponectin at the CDH13 locus and identify a novel uncommon KNG1-ADIPOQ haplotype strongly associated with adiponectin levels in Filipinos. PMID:20876611

Wu, Ying; Li, Yun; Lange, Ethan M; Croteau-Chonka, Damien C; Kuzawa, Christopher W; McDade, Thomas W; Qin, Li; Curocichin, Ghenadie; Borja, Judith B; Lange, Leslie A; Adair, Linda S; Mohlke, Karen L

2010-09-27

202

3D coordination framework with uncommon two-fold interpenetrated {3(3)5(9)6(3)}-lcy net and coordinated anion exchange.  

PubMed

Unusual {3(3)5(9)6(3)}-lcy topology has been found in an uncommon 3D six-connected, two-fold interpenetrated {3(3)5(9)6(3)}-lcy net (illustrated). The coordinated SO(4) (2-) anions in this framework can undergo a full exchange with Cl(-) anions, in the course of which the crystals change color as shown. The process has a solvent-mediated rather than a solid-state mechanism.Reaction of tetrazole-1-acetic acid with CuSO(4)5H(2)O produces two novel 3D coordination frameworks: ([Cu(3)(mu(3)-OH)(eta(1):eta(1):eta(1):mu(3)-SO(4))(tza)(3)]3 CH(3)OHH(2)O}(n) (1; Htza=tetrazole-1-acetic acid) and {[Cu(4)(mu(2)-OH)(eta(2):eta(2):mu(4)-SO(4))(tta)(5)]3 H(2)O}(n) (2; Htta=tetrazole). Framework 1 is constructed from a trinuclear copper cluster [Cu(3)(mu(3)-OH)(eta(1):eta(1):eta(1):mu(3)-SO(4))] and displays a six-connected framework with uncommon {3(3)5(9)6(3)}-lcy topology. Framework 2 presents a complicated five-nodal (3,4,6)-connected net with (4(2)6)(34(2)5(2)7)(4(3)6(2)8)(3(2)4(8)5(3)6(2))(4(6)8(6)10(3)) topology. The eta(2):eta(2):mu(4)-SO(4) bridging mode in 2 has not been found in the reported coordination polymers. The coordinated SO(4) (2-) anions in 1 can be replaced completely when the solid polymer is treated with an aqueous methanolic solution containing Cl(-) anions. Detailed atomic force microscopy studies indicate a solvent-mediated rather than a solid-state mechanism for the exchange process. PMID:19263444

Yang, Haiyan; Li, Linke; Wu, Jie; Hou, Hongwei; Xiao, Bo; Fan, Yaoting

2009-01-01

203

Dengue fever and Kawasaki disease: a clinical dilemma  

Microsoft Academic Search

There are several pediatric conditions which can present with fever and rash; however, it is uncommon to have two diseases\\u000a occurring in a patient at the same time. We report a young child with fever and rash. He was initially diagnosed to have dengue\\u000a fever based on clinical features and serological tests. Later in the course of illness he developed

Surjit Singh; Kana Ram Jat; Deepti Suri; R. K. Ratho

2009-01-01

204

Multicentric reticulohistiocytosis: a rare yet challenging disease.  

PubMed

Multicentric reticulohistiocytosis (MRH) is a rare systemic inflammatory granulomatous disease that primarily manifests clinically with severe erosive arthritis and widespread papulonodular skin lesions but can involve multiple other organ systems. Despite the fact that this condition can become aggressive, debilitating as well as deforming with significant detrimental consequences, the etiology of this disease remains poorly understood. Moreover, the fact that MRH is such an uncommon disease has created an obstacle in the path of adequate clinical trials that are needed for better understanding of this phenomenon and for the development of treatment options for this patient population. In this review, we will attempt to discuss the epidemiology, pathophysiology, clinical features, associated conditions, differential diagnoses, diagnostic workup, and available treatments of MRH with the hope of creating a better understanding of this very challenging yet elusive disease process. PMID:23417597

Islam, Arshia D; Naguwa, Stanley M; Cheema, Gurtej S; Hunter, John C; Gershwin, M Eric

2013-10-01

205

Castleman Disease of the Porta Hepatis Mimicking Exophytic Hepatocellular Carcinoma on CT, MRI, and FDG PET/CT.  

PubMed

Castleman disease is an uncommon disorder characterized by the proliferation of lymphoid tissue. We present a case of Castleman disease in the porta hepatis, showing hypervascularity on enhanced CT and MRI as well as increased FDG uptake on FDG PET/CT. These image features were similar to exophytic hepatocelluar carcinoma. This case suggests that Castleman disease should be considered as a rare differential diagnosis in patients with a perihepatic hypervascular and hypermetabolic mass. PMID:23486333

Dong, Aisheng; Dong, Hui; Zuo, Changjing

2013-03-11

206

Fever revealing Behçet's disease: Two new cases.  

PubMed

Behçet's disease (BD) is an uncommon cause of fever of unknown origin. We report two cases, both involving 42-year-old males, who initially presented with prolonged fever and who were ultimately diagnosed as having BD after a delay of 12 and 21 months, respectively. Both patients developed pulmonary aneurysms. Although fevers resolved after therapy, both patients died within the first year after diagnosis. Clinicians should be aware that long-term fever may be an inaugural sign of BD, especially in individuals living in countries along the ancient Silk Road or Mediterranean basin. PMID:17338968

Harmouche, H; Maamar, M; Sahnoune, I; Tazi-Mezalek, Z; Aouni, M; Maaouni, A

2007-03-01

207

Bullous lung disease and bronchiectasis in unilateral absent right pulmonary artery.  

PubMed

Unilateral absence of pulmonary artery is an uncommon congenital disorder. We report a case of unilateral absence of the right pulmonary artery in an adult without any other cardiovascular anomalies. We describe the clinical and radiologic presentations of this disease. Computed tomography scan and Surgery enabled us to confirm the diagnosis precisely, which was successfully treated with a right pneumonectomy for right-sided bullous lung disease and bronchiectasis. He is doing well at 2 year follow-up. PMID:22700453

Betigeri, Vithalkumar Malleshi; Betigeri, Anupama Vithalkumar; Saichandran, Bathal Vedagiri; Subbarao, Kasturi Satya Venkata Kumar

2012-06-15

208

Paget's Disease of the Vulva in Premenopausal Woman Treated with Only Surgery: A Case Report  

PubMed Central

Paget's disease of the vulva remains a rare condition with only a limited number of cases reported in the literature. It is an uncommon neoplasm usually of postmenopausal white women characterized by controversies in its prevalence, clinical features, treatment strategies, and prognostic. We here report a case of a primary Paget's disease of the vulva in premenopausal woman treated by only surgery with a favorable issue.

Asmouki, Hamid; Oumouloud, Rachid; Aboulfalah, Abderrahim; Soummani, Abderraouf; Marrat, Abdelouahed

2012-01-01

209

Vegetarian Dietary Patterns as a Means to Achieve Reduction in Cardiovascular Disease and Diabetes Risk Factors  

Microsoft Academic Search

Cardiovascular disease and type 2 diabetes are uncommon in people consuming vegetarian and vegan diets. Vegetarian and vegan\\u000a dietary patterns tend to result in lower body weight and better nutritional profiles than conventional healthy eating patterns\\u000a and have been shown to be an effective tool for management of cardiovascular disease and diabetes risk. The consistency of\\u000a observed beneficial outcomes with

Amy Joy Lanou; Barbara Svenson

2010-01-01

210

Colonic diaphragm disease without significant non-steroidal anti-inflammatory drug use: a case report  

Microsoft Academic Search

INTRODUCTION: Colonic diaphragm disease is an uncommon condition usually associated with the long-term use of non-steroidal anti-inflammatory drugs. CASE PRESENTATION: A 48-year-old woman presented as an emergency patient with abdominal pain and vomiting. Past medical history included inflammatory bowel disease of ulcerative colitis type for which she was taking azathioprine and prednisolone. On examination, she was shocked with signs of

Jo C Roche; Gareth Morris-Stiff; Carrie Champ; Geraint T Williams; Michael H Lewis

2008-01-01

211

Crohn's Disease Initially Accompanied by Deep Vein Thrombosis and Ulnar Neuropathy without Metronidazole Exposure  

PubMed Central

Extraintestinal manifestations are not uncommon in Crohn's disease, and a thromboembolic event is a disastrous potential complication. Deep vein thrombosis is the most common manifestation of a thromboembolic event and typically occurs in association with active inflammatory disease. Peripheral neuropathy in Crohn's disease has rarely been reported and is considered an adverse effect of metronidazole therapy. Here, we describe a patient who was initially diagnosed with Crohn's disease complicated with deep vein thrombosis and ulnar neuropathy without metronidazole exposure. The simultaneous occurrence of these complications in the early stage of Crohn's disease has never been reported in the English literature.

Kim, Woohyeon; Kang, Borami; Kim, Joon Sung; Lee, Hae-Mi; Lim, Eun-Joo; Kim, Jong In; Kang, Bong-Koo; Ji, Jeong-Seon; Lee, Bo-In; Choi, Hwang

2013-01-01

212

Incidence and Factors Predicting the Detection of Prostate Cancer after Transurethral Resection of the Prostate for Clinically Benign Disease  

Microsoft Academic Search

Introduction: Transurethral resection of the prostate (TURP) is commonly performed as the surgical management of lower urinary tract symptoms due to clinically benign disease. However, prostate cancer is not uncommonly diagnosed after such a procedure. We, therefore, determined in a retrospective study the incidence and factors that might predict the detection of prostate cancer after TURP. Patients and Methods: Between

Elizabeth A. Bright; Clare Manuel; Jonathan C. Goddard; Masood A. Khan

2009-01-01

213

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.

214

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.

Abedin, A; Chen, H; Carson, J

2005-01-01

215

Sporadic Parkinson disease and Amyotrophic Lateral Sclerosis complex (Brait-Fahn-Schwartz Disease).  

PubMed

Clinical evidence for parkinsonism may accompany Amyotrophic Lateral Sclerosis with a frequency ranging from 5% to 17%. The concurrence of Amyotrophic Lateral Sclerosis and Parkinson's disease, outside the known Guam and Kii Peninsula foci, is instead rare, but this raises the possibility of a common pathogenesis. Clinically this complex presents with a levodopa-responsive parkinsonism and Amyotrophic Lateral Sclerosis and has been termed Brait-Fahn-Schwartz disease. Here we describe two patients with this uncommon neurodegenerative complex. Both presented with Parkinson disease and progressed to a full blown Amyotrophic Lateral Sclerosis. We further suggest that the association of Parkinson disease and Amyotrophic Lateral Sclerosis represents a distinct nosological entity, which should be kept separated from extrapyramidal signs and symptoms that may occur in Amyotrophic Lateral Sclerosis. PMID:23380453

Manno, Concetta; Lipari, Alessio; Bono, Valeria; Taiello, Alfonsa Claudia; La Bella, Vincenzo

2013-02-04

216

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.

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

217

Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders  

PubMed Central

Objectives—To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. Design—Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. Results—Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. Discussion—Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval. Key Words: Research ethics • MREC • LREC

Lewis, J C; Tomkins, S; Sampson, J R

2001-01-01

218

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

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

1986-01-01

219

Uncommon Connections with Common Numerators  

ERIC Educational Resources Information Center

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

Lesser, Lawrence M.; Guthrie, Joe A.

2012-01-01

220

Uncommon manifestations of shunt infection  

Microsoft Academic Search

Shunt infection is one of the commonest and most troublesome cause of shunt failure. According to the etiology and clinical\\u000a presentations it has been divided into external and internal types.Method : We hereby present four pediatric cases, who presented with atypical manifestations not coinciding with the above mentioned\\u000a types of shunt infection. Three patients developed round, globular or diffuse fluctuant

Raj Kumar

2003-01-01

221

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.

Harrison, Helen; Adams, Paul C.

2002-01-01

222

Transient myeloproliferative disease: keeping a high index of suspicion.  

PubMed

Transient myeloproliferative disorder (TMD) can be found in well or ill newborns with Down syndrome. Although it is a relatively harmless process for most, in some children, TMD can present as a life-threatening state requiring critical care. As the disease is seemingly uncommon, some providers may lack a sense of urgency in the dissemination of TMD awareness; however, one can never know on whose door this patient may knock tomorrow. Advanced practice professionals should be prepared for the TMD patient that may present without warning. The goals of this article are to discuss common presentations, diagnosis, and management; and to bring attention to this often de-emphasized disease. PMID:22907684

King, Michelle Elizabeth; Hueckel, Remi

223

Castleman's disease - an unusual indication for laparoscopic adrenalectomy.  

PubMed

Castleman's disease is one of the rare entities which cause lymph node hyperplasia with no characteristic clinical symptoms. Pathomorphological examination usually enables diagnosis, especially in the case of a localized form. Its uncommon location in the retroperitoneal cavity is estimated at 12% in the literature. Asymptomatic nature of the disease and its untypical location in the adrenal field imitated incidentaloma of this gland in the imaging examinations. Surgical treatment, laparoscopic excision of the tumour (lymph node) and right adrenal gland from the lateral, transperitoneal approach allowed final diagnosis and offered effective therapy. PMID:23256001

Otto, Maciej; Wieprzowski, Lukasz; Dzwonkowski, Jacek; Ziarkiewicz-Wróblewska, Bogna

2011-11-08

224

Castleman's disease - an unusual indication for laparoscopic adrenalectomy  

PubMed Central

Castleman's disease is one of the rare entities which cause lymph node hyperplasia with no characteristic clinical symptoms. Pathomorphological examination usually enables diagnosis, especially in the case of a localized form. Its uncommon location in the retroperitoneal cavity is estimated at 12% in the literature. Asymptomatic nature of the disease and its untypical location in the adrenal field imitated incidentaloma of this gland in the imaging examinations. Surgical treatment, laparoscopic excision of the tumour (lymph node) and right adrenal gland from the lateral, transperitoneal approach allowed final diagnosis and offered effective therapy.

Wieprzowski, Lukasz; Dzwonkowski, Jacek; Ziarkiewicz-Wroblewska, Bogna

2011-01-01

225

Gliomatosis cerebri in a patient with Ollier disease.  

PubMed

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

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

2011-08-24

226

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

PubMed

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

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

2010-07-16

227

Immunoglobulin G4-Related Systemic Sclerosing Disease: A Case Involving the Ureter and Kidney  

PubMed Central

Immunoglobulin (Ig) G4-related sclerosing disease is a newly defined clinicopathological entity characterized by lymphoplasmacytic infiltration of IgG4-positive plasma cells and varying degrees of fibrosis within affected tissues. Patients usually exhibit multisystem involvement and often respond well to steroid and immunosuppressive therapy. This report presents a case of IgG4-related sclerosing disease involving the ureter and kidney. We hope to bring IgG4-related sclerosing disease to the attention of urologists, because it is an uncommon disease that commonly responds to systemic corticosteroids.

Kim, Sunchan; Kim, Tae Gu; Choi, Seung-Kwon; Kim, Myung Joon; Min, Gyeong Eun; Lee, Hyung-Lae

2013-01-01

228

Paget's Disease of Bone  

MedlinePLUS

... of bone is more common in England, Scotland, central Europe and Greece — as well as countries settled by European immigrants. It's uncommon in Scandinavia and Asia. Family history. If you have a close relative ...

229

A case of refractory adult-onset Still’s disease successfully controlled with tocilizumab and a review of the literature  

Microsoft Academic Search

Adult-onset Still’s disease (AOSD) is an uncommon systemic inflammatory disease of unknown aetiology. Up to 80% of AOSD cases\\u000a can be controlled with corticosteroids; however, reports on those unresponsive to corticosteroids, conventional disease modifying\\u000a drugs and biological agents, including anti-IL1 inhibitors, are emerging. We present a case of AOSD with severe poylarthritis\\u000a unresponsive to corticosteroids, methotrexate, anakinra and etanercept, but

Katja Perdan-Pirkmajer; Sonja Praprotnik; Matija Tomši?

2010-01-01

230

Behcet's Disease  

MedlinePLUS

NINDS Behcet's Disease Information Page Table of Contents (click to jump to sections) What is Behcet's Disease? Is there any ... Trials Organizations Additional resources from MedlinePlus What is Behcet's Disease? Behcet's disease is a rare, chronic inflammatory disorder. ...

231

A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease.  

PubMed

We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her admission, the patient had a sign of proteinuria in urine analysis. The pathologic findings of kidney needle biopsy implied nephrosialidosis (mucolipidosis of lysosomal stroage disease), which is consistent with a Fabry's disease. It is uncommon that Fabry's disease is presented with aneurysmal SAH, especially in middle-aged patients, but could be a clinical concern. Further investigations are needed to reveal risk factors, vascular anatomy, and causative mechanisms of Fabry's disease with aneurysmal SAH. PMID:23634271

Chang, Youn Hyuk; Hwang, Sung-Kyun

2013-03-31

232

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.

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

2012-01-01

233

Pericardial Disease: Diagnosis and Management  

PubMed Central

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

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

2010-01-01

234

Stereotactic radiosurgery for Cushing disease.  

PubMed

The most common cause of Cushing syndrome is Cushing disease, in which hypercortisolism is produced by a functional adrenocorticotropic hormone-producing adenoma of the anterior pituitary gland. The common therapies available include microsurgical resection, conventional fractionated radiotherapy, and stereotactic radiosurgery (SRS). In this article the authors review the indications, results, and complications associated with SRS in the treatment of Cushing disease. In as many as 90% of patients SRS results in disease remission, which is defined as a normal 24-hour urinary free cortisol level and a normal or subnormal morning serum cortisol level. Although in most patients who are subsequently cured a marked decrease in the serum cortisol level is demonstrated within 3 months after treatment, a biochemical cure may be delayed up to 3 years in some cases. Complications following SRS for pituitary adenomas are uncommon, particularly in patients with microadenomas, which are most commonly seen in Cushing disease. The most common complication is hypopituitarism, which occurs in up to 50% of patients with a mean latency period of 5 years. Radiation-induced optic neuropathy has been reported in less than 2% of cases and induction of a secondary neoplasm in less than 1% of cases. For patients with Cushing disease, the rate of endocrinological cure following SRS appears to be similar to that attained using microsurgical resection. In contrast to surgery, SRS has the benefit of being noninvasive and associated with a very low incidence of diabetes insipidus, although hypopituitarism may be more common with SRS. With continued follow-up patient reviews and additional experience with SRS, it may become possible to make more definitive statements regarding SRS as the initial treatment for patients with Cushing disease. PMID:15191334

Hentschel, Stephen J; McCutcheon, Ian E

2004-04-15

235

Kimura's disease in a chronic hemodialysis patient.  

PubMed

Eosinophilia is not an uncommon finding in chronic dialysis patients. It is usually benign in nature although definite pathogenesis is unknown. We have encountered a young uremic Chinese adult who developed Kimura's disease after being on maintenance hemodialysis for about 3 years. Asymptomatic eosinophilia had been noted for 1 year and 8 months prior to the development of progressively enlarged neck masses, which leads to the diagnosis of Kimura's disease. In contrast to most cases, eosinophilia was first noticed before the neck masses appeared. There is often a close correlation between Kimura's disease and glomerular disease, where renal involvement is considered as a systemic manifestation. However, we do not have strong evidence to support this relationship between terminal renal failure and Kimura's disease in this patient. To our knowledge, our patient is the first reported case of Kimura's disease occurring in chronic hemodialysis patients. Eosinophilia persisted for nearly 2 years before the neck mass developed and recurred after the excision. Besides, our patient also demonstrated a chronic and recurrent course typical of Kimura's disease. PMID:11275632

Lee, C T; Huang, C C; Lam, K K; Chen, J B

236

Behcet's Disease  

MedlinePLUS

... for Behcet’s Disease is Behcet’s syndrome . Who gets Behcet’s Disease (the “typical” patient)? Behcet’s disease is most common ... in the pons). Classic symptoms and signs of Behcet’s Disease Behcet’s disease is virtually unparalleled among the vasculitides ...

237

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

Microsoft Academic Search

Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in approximately 2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases

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

2011-01-01

238

Common and unusual diseases involving the iliopsoas muscle compartment: spectrum of cross-sectional imaging findings  

Microsoft Academic Search

Although relatively uncommon, many different infectious, hemorrhagic and neoplastic disease processes may involve the iliac\\u000a and psoas muscles and are increasingly diagnosed especially in referral hospitals. Furthermore, the iliopsoas compartment\\u000a may become injured during trauma, percutaneous instrumentation, laparoscopic or open surgical procedures. State-of-the-art\\u000a cross-sectional imaging including volumetric multidetector CT and multiplanar MRI acquisitions allows prompt detection, comprehensive\\u000a visualization and confident

Massimo Tonolini; Alessandro Campari; Roberto Bianco

239

EF Bart's disease: interaction of the abnormal alpha- and beta-globin genes.  

PubMed

EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of alpha-thalassaemia and haemoglobin E in the same subject. Starch-gel electrophoresis revealed two phenotypes in 19 patients with EF Bart's. 16 patients had Hbs CS + E + F + Bart's and the remainder had Hbs E + F + Bart's. DNA mapping and haemoglobin electrophoresis indicated that there are four genotypes, involving 5 abnormal globin genes, responsible for this thalassaemia syndrome. PMID:3342862

Fucharoen, S; Winichagoon, P; Thonglairuam, V; Wasi, P

1988-01-01

240

Rehabilitation of avulsion fracture of the tibial tuberosity following Osgood-Schlatter disease  

Microsoft Academic Search

A sixteen-year-old boy suffered from sharp pain in the knee during a jump while playing basketball. He had a positive history of Osgood Schlatter disease. Radiographic evaluation demonstrated an avulsion fracture of the tibial tuberosity Type III according to the classification of Watson-Jones. Rehabilitation after avulsion fracture of the tibial tuberosity is an important consideration for this relatively uncommon adolescent

G. Baltaci; H. Özer; V. B. Tunay

2004-01-01

241

Total colonic aganglionosis and Hirschsprung’s disease: shades of the same or different?  

Microsoft Academic Search

Total colonic aganglionosis is a relatively uncommon form of Hirschsprung’s disease (HSCR) occurring in approximately 2–13%\\u000a of cases. It can probably be divided into total colonic aganglionosis (TCA; defined as aganglionosis extending from the anus\\u000a to at least the ileocaecal valve, but no more than 50 cm proximal to the ileocaecal valve) and total colonic and small bowel\\u000a aganglionosis, which may

Sam W. Moore

2009-01-01

242

Hepatic veno-occlusive disease after tandem autologous stem cell transplantation conditioned by melphalan.  

PubMed

We report the case of a 58-year-old man with multiple myeloma stage III A who received tandem autologous stem cell transplantation after induction by two courses of VAD and three cycles of bortezomib-dexamethasone, due to progression under chemotherapy. The second transplantation was complicated by severe hepatic veno-occlusive disease (HVOD). The patient received defibrotide with total recovery. The occurence of HVOD after conditioning by melphalan is uncommon and the role of bortezomib was questioned. PMID:18696182

Labidi, Sana Intidhar; Sebban, Catherine; Ghesquières, Hervé; Nicolas, Emmanuele Virelizier; Biron, Pierre

2008-08-12

243

Hypopigmented micropapules in apparently quiescent morphea lesions: A manifestation of disease activity.  

PubMed

We present two young patients with morphea or localized scleroderma undergoing systemic treatment, who developed papular lesions on pre-existing sclerotic plaques. Histology was compatible with a papular presentation of morphea and other entities in the differential diagnosis were ruled out. We believe this is a very uncommon presentation of activity in lesions of morphea and should be made known to clinicians so that activity and progression of the disease can be recognized and treated to avoid complications. PMID:24021446

Garcia-Romero, Maria Teresa; Taylor, Glenn; Laxer, Ronald; Pope, Elena

2013-08-15

244

Acute Kidney Injury due to Crescentic Glomerulonephritis in a Patient with Polycystic Kidney Disease.  

PubMed

Polycystic kidney disease is an inherited condition, characterized by the development of cysts in the kidney, as well as in other organs. Patients with polycystic kidney can suffer from the same causes of acute kidney injury as the general population. Nephritic syndrome is an uncommon cause of acute kidney injury in the general population and less common in patients with polycystic kidney disease. We report the second case of crescentic glomerulonephritis, causing acute kidney injury, in a patient with polycystic kidney disease. PMID:23914203

Maggard, Reuben; Makary, Raafat; Monteiro, Carmela L; James, Leighton R

2013-07-11

245

Multiple Cancers in a Patient with Systemic Sclerosis and Aggravated Interstitial Lung Disease by Chemotherapy  

PubMed Central

Although the relationship between malignancy risk with systemic sclerosis (SSc) has been inconclusive, there are some previous studies for a positive correlation. Most patients with SSc have some degree of lung parenchymal involvement in the form of interstitial thickening and fibrosis. Interstitial lung disease is the most common pulmonary manifestation of SSc. Interstitial lung disease following chemotherapy (5-fluorouracil, leucovorin, and oxaliplatin [FOLFOX]) is an uncommon life-threatening complication and it is induced by oxaliplatin. We report a case of multiple cancers in a patient with SSc and aggravated interstitial lung disease by chemotherapy.

Lee, Seok Jong; Cho, Hyung Jun; Lee, Kyeong Soo; Kim, Sung Jun; Cho, Gu Min; Lee, Ha Ni

2013-01-01

246

Radiographic features in a rare case of sphenoid sinus extramedullary hematopoeisis in sickle cell disease.  

PubMed

Sickle cell disease is a common hematologic disorder with some uncommon clinical manifestations. While there are an abundance of described disease manifestations of the head and neck, extramedullary hematopoesis within the paranasal sinuses is exceedingly rare. Here, we present a case of a young boy with known sickle cell disease who presented to hospital with headaches of new onset. Imaging demonstrated an expansile mass lesion occupying the sphenoid sinus and on biopsy was found to be active hematopoetic bone marrow. A description of the case and review of subtle but characteristic radiographic findings follow. PMID:23206496

Sklar, Michael; Rotaru, Carmen; Grynspan, David; Bromwich, Matthew

2012-12-01

247

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

248

Binswanger's Disease  

MedlinePLUS

... Binswanger's Disease? Binswanger's disease (BD), also called subcortical vascular dementia , is a type of dementia caused by widespread, ... Hope Through Research Information booklet about Alzheimer's disease, vascular dementia, and other types of dementia compiled by the ...

249

Refsum Disease  

MedlinePLUS

NINDS Refsum Disease Information Page Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis Table of Contents (click to jump to sections) What is Refsum Disease? Is there any ...

250

Celiac Disease  

MedlinePLUS

... as our most commonly consumed ingredient. What Is Celiac Disease? The digestive system is the set of organs ... an injury or pregnancy. Back Continue How Is Celiac Disease Diagnosed? Because the symptoms of celiac disease are ...

251

Autoimmune Diseases  

MedlinePLUS

... protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure ...

252

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 ...

253

Gum Disease  

MedlinePLUS

... which is both embarrassing and serious!). What Is Gum Disease? Gum disease is also known as periodontal (pronounced: per- ... tissues and bone that support the teeth. Untreated gum disease can become very serious, causing teeth to ...

254

Huntington's Disease  

MedlinePLUS

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

255

Myxomatous mitral valve disease in dogs: does size matter?  

PubMed

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

2012-02-20

256

Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.  

PubMed

Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome. PMID:15602098

Factor, Stewart A; Molho, Eric S

257

Endovascular treatment of cystic adventitial disease of the popliteal artery.  

PubMed

Cystic adventitial disease of the popliteal artery is an uncommon cause of intermittent claudication in young patients. Several treatment options are available, oriented to either drainage of the cyst and/or arterial reconstruction. Endovascular techniques have been used in exceptional cases to treat this condition, mostly balloon angioplasty and only 2 cases of stenting, with mixed to poor results. We report the case of a 36-year-old female patient with claudication who was treated with primary stenting with long-term symptomatic relief and arterial patency. PMID:23953666

Mertens, Renato; Bergoeing, Michel; Mariné, Leopoldo; Valdés, Francisco; Krämer, Albrecht

2013-08-15

258

Hansen's disease (leprosy) complicated by secondary mycobacterial infection.  

PubMed

A patient with Hansen's disease received corticosteroids for a type 1 leprosy reaction and subsequently developed a new cutaneous lesion at the original biopsy site from which Mycobacterium fortuitum was cultured. A review of the literature found only two other cases of coinfection with atypical mycobacteria and Mycobacterium leprae, although there are many reports of pulmonary tuberculosis in patients with leprosy. This case highlights the diagnostic difficulties encountered when a patient has two different mycobacterial infections of the skin. The published experience emphasizes that such coinfection is remarkably uncommon in leprosy, despite the frequent use of high doses of corticosteroids for leprosy reactions. PMID:20494478

Scollard, David M; Stryjewska, Barbara M; Prestigiacomo, John F; Gillis, Thomas P; Waguespack-Labiche, Jennifer

2010-05-21

259

Newcastle disease  

Technology Transfer Automated Retrieval System (TEKTRAN)

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

260

[Prion diseases].  

PubMed

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

Sto?da, N I; Zavalishin, I A

2012-01-01

261

Epidemiology of gallbladder disease: cholelithiasis and cancer.  

PubMed

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

Stinton, Laura M; Shaffer, Eldon A

2012-04-17

262

Gastrocolic fistulae in benign peptic ulcer disease.  

PubMed Central

Occurence of gastroenteric fistulae in non-surgically treated peptic ulcer disease is rare as suggested by only 26 cases published in the literature so far. We had the opportunity to care for 3 patients with this problem in a period of one year. At our institution, a search of the medical records dating back to 1955 yielded one additional case. Most of our patients had a history of salicylate or corticosteroid intake. We present here the details of these cases and discuss the possible role of the location of the ulcer and ulcerogenic anti-inflammatory drug ingestion in the causation of gastroenteric fistula. We believe the incidence of this uncommon entity may rise significantly with the more common use of salicylates and corticosteroids. Images Fig. 1. Fig. 2. Fig. 3.

Kumar, G K; Razzaque, M A; Naidu, V G; Barbour, E M

1976-01-01

263

Coronary heart disease: outlook for Africa.  

PubMed Central

In Africa, coronary heart disease (CHD) is near absent in rural areas, and very uncommon in urban centres, where many Africans are in an advanced stage of transition. Among town dwellers intakes of food, especially fat, have risen and intakes of fibre-containing foods have fallen. Mean serum cholesterol level is almost double that of rural populations living traditionally. Obesity in females has risen enormously. Prevalence of hypertension exceeds that in the white population. The same applies to the practice of smoking in males, but not in females. The level of physical activity has fallen generally. With these increases in risk factors we can expect urban Africans to attain the high mortality rate for CHD now experienced by Afro-Americans. Prevention by urging reversion to previous life-style behaviour is a non-starter. However, as long as Africa remains impoverished, a major rise in CHD is unlikely.

Walker, A R; Sareli, P

1997-01-01

264

Neutrophilic infiltration in gluten-sensitive enteropathy is neither uncommon nor insignificant: assessment of duodenal biopsies from 267 pediatric and adult patients.  

PubMed

The histologic findings of celiac disease, that is, gluten-sensitive enteropathy (GSE), are dominated by increased intraepithelial lymphocytes, villous blunting, lymphoplasmacytic infiltration of lamina propria, and crypt hyperplasia. To date, neutrophils have not been thought to constitute a significant cell type in GSE, and their presence often invokes consideration of alternative diagnoses. Thus, we sought to determine the prevalence and severity of neutrophilic infiltration in duodenal biopsies from patients with GSE. The degree of neutrophilic infiltration and features characteristic of GSE were assessed in duodenal biopsies from 267 clinically confirmed GSE patients (116 adults and 151 children). These specimens were graded by the disease activity score (DAS) and the neutrophilic activity score (NAS). Gastric antral biopsies obtained from 195 patients were also evaluated for lymphocytic gastritis. NAS was correlated with DAS and other clinicopathologic features. We found that 56% of pediatric and 28% of adult GSE patients had significant duodenal neutrophilia. NAS was higher in children than in adults (2.3 vs. 1.2, P<0.001). Multivariate regression showed that DAS, eosinophilic infiltration, and foveolar metaplasia correlated positively, and age correlated negatively with NAS. Lymphocytic gastritis was seen in 21.5% of the gastric biopsies. The presence of lymphocytic gastritis correlated positively with NAS and DAS, and in the pediatric population it correlated negatively with age. Significant duodenal neutrophilia is often found in patients with celiac disease, especially in the pediatric population, and is associated with more active disease. Thus, the findings of duodenal neutrophilia in biopsies, otherwise consistent with GSE, should not preclude the diagnosis of GSE. PMID:22531172

Moran, Christopher J; Kolman, Olga K; Russell, Gary J; Brown, Ian S; Mino-Kenudson, Mari

2012-09-01

265

Kikuchi's disease: a case report and review of the literature.  

PubMed

Kikuchi's disease is a necrotizing lymphadenitis that is prevalent in Asia and is being increasingly recognized in other areas of the world. It usually occurs in women in their late 20s or early 30s and manifests as a posterior cervical adenopathy. It resolves spontaneously, usually over a period of several weeks to 6 months. Its initial clinical appearance is commonly similar to that of a lymphoma, and it can be pathologically misdiagnosed as such. Kikuchi's disease might be associated with systemic lupus erythematosus. We report a case of Kikuchi's disease that occurred in a 36-year-old Asian woman. We discuss the clinical features, differential diagnosis, radiographic evaluation, and pathology of this case, and we review the literature in an effort to assist otolaryngologists in diagnosing this benign and uncommon entity. PMID:12025004

Baumgartner, Brian J; Helling, Eric R

2002-05-01

266

[Abdominal aortic aneurysm and Behçet's disease: four cases].  

PubMed

Behçet's disease is an uncommon systemic process generally developing during the third or fourth decade of life. Recurrent inflammatory lesions are characteristic. Cardiovascular involvement, which may be arterial or venous, is rare but with particularly severe prognosis. Four cases of abdominal aortic aneurysm are reported. One patient underwent emergency surgery for acute rupture. All patients were male, age range 29-45 years, mean age 36.5 years. Three patients were followed for Behçet's disease. Surgical revascularization was performed in all four patients, mainly with prosthetic grafts, one with patch aortoplasty. The postoperative period was complicated by paraplegia and thrombosis of the prosthetic graft in the patient who underwent emergency surgery. On the basis of these cases and cases reported in the literature, it can be concluded that morbidity and mortality are high because of the etiology underlying vascular involvement in Behçet's disease. PMID:14978431

Taberkant, M; Chtata, H; Lekehal, B; Alaoui, M; Sefiani, Y; Boughroum, A; Mahi, O; El Mesnaoui, A; Benjelloun, A; Ammar, F; Bensaid, Y

2003-12-01

267

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.  

PubMed

The success of genome-wide association studies (GWAS) in deciphering the genetic architecture of complex diseases has fueled the expectations whether the individual risk can also be quantified based on the genetic architecture. So far, disease risk prediction based on top-validated single-nucleotide polymorphisms (SNPs) showed little predictive value. Here, we applied a support vector machine (SVM) to Parkinson disease (PD) and type 1 diabetes (T1D), to show that apart from magnitude of effect size of risk variants, heritability of the disease also plays an important role in disease risk prediction. Furthermore, we performed a simulation study to show the role of uncommon (frequency 1-5%) as well as rare variants (frequency <1%) in disease etiology of complex diseases. Using a cross-validation model, we were able to achieve predictions with an area under the receiver operating characteristic curve (AUC) of ~0.88 for T1D, highlighting the strong heritable component (?90%). This is in contrast to PD, where we were unable to achieve a satisfactory prediction (AUC ~0.56; heritability ~38%). Our simulations showed that simultaneous inclusion of uncommon and rare variants in GWAS would eventually lead to feasible disease risk prediction for complex diseases such as PD. The used software is available at http://www.ra.cs.uni-tuebingen.de/software/MACLEAPS/. PMID:22777693

Mittag, Florian; Büchel, Finja; Saad, Mohamad; Jahn, Andreas; Schulte, Claudia; Bochdanovits, Zoltan; Simón-Sánchez, Javier; Nalls, Mike A; Keller, Margaux; Hernandez, Dena G; Gibbs, J Raphael; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Martinez, Maria; Wood, Nicholas W; Hardy, John; Singleton, Andrew B; Zell, Andreas; Gasser, Thomas; Sharma, Manu

2012-08-03

268

A pediatric non-protein losing Menetrier's disease successfully treated with octreotide long acting release  

PubMed Central

Pediatric Menetrier’s disease (MD) is an uncommon, acute, self-limited hypertrophic gastropathy characterized by enlarged gastric folds associated with epithelial hyperplasia and usually accompanied by protein losing gastropathy. Gastric cytomegalovirus infection is found in one third of MD children and its treatment is often associated with remission. Diagnosis often requires full-thickness biopsy due to inability to detect typical histological findings with conventional endoscopic biopsy. We report an uncommon case of non self-limited pediatric MD needing endoscopic mucosal resection for diagnosis which was then successfully treated with octreotide long-acting release (LAR). To the best of our knowledge, this is the first pediatric MD case successfully treated with octreotide LAR. Our experience suggests octreotide LAR as treatment for refractory MD before gastrectomy.

Nardo, Giovanni Di; Oliva, Salvatore; Aloi, Marina; Ferrari, Federica; Frediani, Simone; Marcheggiano, Adriana; Cucchiara, Salvatore

2012-01-01

269

Kidney Diseases  

MedlinePLUS

... urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or ...

270

Buerger's Disease  

MedlinePLUS

... United States, but is more common in the Middle East and Far East. Buerger's disease usually affects men ... Buerger's disease are highest in areas of the Middle East and Far East where heavy smoking is most ...

271

Pneumococcal Disease  

MedlinePLUS

... Hepatitis B HPV (Human Papillomavirus) Influenza (Flu) Measles Meningitis (Meningococcal Disease) Mumps Pertussis (Whooping Cough) Pneumococcal Disease ... 3,000 to 6,000 cases of pneumococcal meningitis occur each year in the US. The case- ...

272

Alzheimer Disease  

MedlinePLUS

... brain works by sending signals. Chemical messengers, called neurotransmitters (say: nur-oh- trans -mih-terz), allow brain ... person with Alzheimer disease has decreased amounts of neurotransmitters. People with Alzheimer disease also develop deposits of ...

273

Legionnaire's disease  

MedlinePLUS

... not been proven. Most infections occur in middle-aged or older people, although they have been reported in children. Typically, the disease is less severe in children. Risk factors include: Alcoholism Cigarette smoking Diseases such as kidney failure or ...

274

Alexander Disease  

MedlinePLUS

... by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies for treatment. At present, there is no exact animal model for the disease; however, mice have been engineered ...

275

Gaucher disease  

MedlinePLUS

... population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to get this disease. ... adults. It is most common in the Ashkenazi Jewish population. Type 2 disease usually begins in infancy ...

276

Moyamoya Disease  

MedlinePLUS

... discovering how and why diseases develop in the brain, and focus on finding ways to prevent, treat, or cure them. NIH Patient Recruitment for Moyamoya Disease Clinical Trials At NIH Clinical Center Throughout the U.S. and ...

277

Chagas Disease  

MedlinePLUS

... the disease has affected your intestines and heart. Medicines can kill the parasite, especially early on. You can also treat related problems. For example, a pacemaker helps with certain heart complications. Centers for Disease Control and Prevention

278

Krabbe disease  

MedlinePLUS

Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy. ... A defect in the GALC gene causes Krabbe disease. Persons with this gene ... (galactosylceramidase). The body needs this substance to ...

279

Lyme Disease  

MedlinePLUS

... on the Pacific Coast). These ticks can spread the disease to animals and humans through tick bites. These ticks are typically about the size of a sesame seed. Lyme disease is most common in rural and suburban areas ...

280

Alzheimer's disease  

MedlinePLUS

In a person with Alzheimer's disease, neurofibrillary tangles and plaques develop causing both structural and chemical problems in the brain. Alzheimer's disease appears to disconnect areas of the brain that ...

281

Huntington's disease  

MedlinePLUS

Huntington chorea ... Huntington's disease is caused by a genetic defect on chromosome 4. The defect causes a part of ... 10 to 28 times. But in persons with Huntington's disease, it is repeated 36 to 120 times. ...

282

Parkinson's disease  

Microsoft Academic Search

Parkinson's disease is a common disabling disease of old age. The diagnosis of idiopathic Parkinson's disease is based on clinical signs and has poor sensitivity, with about 25% of patients confidently diagnosed as having the disease actually having other conditions such as multi-system atrophy and other parkinsonism-plus syndromes. Benign essential tremor and arteriosclerotic pseudo-parkinsonism can easily be confused with Parkinson's

J. R. Playfer

1997-01-01

283

Behçet's disease  

Microsoft Academic Search

Background: Behçet's disease is a multisystem disease that is rare in the United States.Objective: The purpose of our study was to assess the characteristics and treatment of a series of patients with Behçet's disease in the United States.Methods: A retrospective clinical review of 25 patients with Behçet's disease was performed, and histopathologic findings and therapeutic modalities were reviewed.Results: All patients

Heidi C. Mangelsdorf; Wain L. White; Joseph L. Jorizzo

1996-01-01

284

Meniere's Disease.  

ERIC Educational Resources Information Center

|Meniere's disease is characterized by unpredictable spells of severe vertigo and fluctuations in hearing and tinnitus. This article discusses the incidence of Meniere's disease, the present status of our understanding of this disease, controversies in its diagnosis, and the multiple therapeutic modalities recruited in its treatment. (Contains…

Schessel, David A.

1997-01-01

285

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 ...

286

Celiac Disease  

MedlinePLUS

... absorbing enough iron. Continue Why Do Kids Get Celiac Disease? No one is sure why celiac disease happens, but it appears to run in families. ... have a 5% to 10% chance of getting celiac disease if someone in your family has it. It's ...

287

Lyme Disease.  

ERIC Educational Resources Information Center

|This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded…

Taylor, George C.

1991-01-01

288

Sandhoff Disease  

MedlinePLUS

... body. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of ... Worldwide NINDS Clinical Trials Organizations Column1 Column2 National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite ...

289

Foodborne Diseases  

MedlinePLUS

... this site from a secured browser on the server. Please enable scripts and reload this page. U.S. Department of Health and Human Services • National ... Diseases Skip Website Tools Website Tools Print this ... disease information from CDC Foodborne Diseases Active Surveillance Network, a CDC-sponsored program known as ...

290

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

291

A Case of Adult-Onset Still's Disease Presenting with Urticated Plaques and Acute Myopericarditis  

PubMed Central

Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, arthralgia or arthritis, involvement of various organs, and predominantly neutrophilic leucocytosis. AOSD, although uncommon, has a characteristic constellation of clinical and laboratory features and should be considered in the differential diagnosis of pyrexia of unknown origin associated with a rash and arthralgia. The diagnosis is one of clinical suspicion and it is essential that infections, malignancy, and other rheumatic diseases are excluded. We report a case which illustrates the typical features of AOSD that were treated with steroids and azathioprine.

Said, Noor Hanif; Wong, Siew Ngoh; Tan, Wei Hsia

2013-01-01

292

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.

Murray, Thomas S.; Shapiro, Eugene D.

2013-01-01

293

Prion Diseases  

NSDL National Science Digital Library

Prion Diseases is one of a set of lecture notes for Virology 335 by Shaun Heaphy of Leicester University (UK). It contains detailed information on its topic, along with selected links. Although prion research has been going on for over 25 years, the scientific and medical communities have only recently acknowledged the existence of prions and there remains serious debate over their role in a variety of neurological diseases. The name "prion" is derived from "proteinaceous infectious particles," and was coined by Dr. Stanley Prusiner, who discovered the agents and who recently received the Nobel Prize for Medicine for his work. Prions are thought to be the first transmissible and heritable disease-causing agents that lack DNA and RNA. They are composed solely of protein and appear to be the cause of such diseases as kuru and Creutzfeldt-Jakob disease in humans, and bovine spongiform encephalopathies, mad cow disease, and scrapie in sheep and goats.

Heaphy, Shaun.

1997-01-01

294

Prion diseases  

Microsoft Academic Search

Prion diseases are incurable neurodegenerative conditions affecting both animals and humans. They may be sporadic, infectious,\\u000a or inherited in origin. Human prion diseases include Creutzfeldt—Jakob desease (CJD), Gerstmann—Straussler—Scheinker disease,\\u000a kuru, and fatal familial insomnia. The appearance of variant CJD, and the demonstration that is caused by strains indistinguishable\\u000a from bovine spongiform encephalopathy (BSE) in cattle, has led to the threat

Edward McKintosh; Sarah J. Tabrizi; John Collinge

2003-01-01

295

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

296

Disease Detective  

NSDL National Science Digital Library

This activity (on pages 35-43) lets learners analyze a "herd of elk" to detect the spread of a bacterial disease called brucellosis. The activity simulates how wildilfe veterinarians study elk in the wild by sampling only a subset of the animals. Based on a brucellosis problem with elk in Yellowstone National Park, learners cut out representations for two herds and then pick some at random to "test" for disease (denoted as a plus sign on a diseased animal). The results indicate that elk fed in Wyoming over the winter have more disease than the wild elk that go north to Montana

Museum, University O.; Nebraska Cooperative Extension 4-H Youth Development

2002-01-01

297

Leishmaniasis Disease  

MedlinePLUS

... Leishmaniasis General Information Leishmaniasis FAQs Epidemiology & Risk Factors Biology Disease Diagnosis Treatment Prevention & Control Resources for Health Professionals Publications Additional Resources Information ...

298

[Cardiological diseases].  

PubMed

Knowledge of rare but important clinical disease symptoms in cardiology is of vital importance in the daily routine as severe courses of disease as well as death may be prevented by early diagnosis, effective monitoring and timely initiation of an adequate therapy. In this article an important rhythmological disease, arrhythmogenic right ventricular cardiomyopathy, as well as two significant structural diseases, takotsubo (stress-related) cardiomyopathy and aortic aneurysm related to Marfan syndrome, as well as their implications for clinical practice will be presented. PMID:24005787

Gross, L; Massberg, S; Sibbing, D

2013-10-01

299

Huntington's Disease  

PubMed Central

Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to mutant Htt leading to neurodegeneration. The polyQ expansion makes Htt prone to aggregate and accumulate, and manipulations that mitigate protein misfolding or facilitate the clearance of misfolded proteins tend to slow disease progression in HD models. This article will focus on HD and the evidence that it is a conformational disease.

Finkbeiner, Steven

2011-01-01

300

Biomarkers in congenital heart disease: do natriuretic peptides hold the key?  

PubMed

Congenital heart disease is the most common congenital abnormality. The long-term prognosis of these patients has changed significantly over the last half century, thanks to improvements in cardiovascular diagnosis, surgery and postoperative care. However, residual lesions are not uncommon and many of the interventions performed remain palliative rather than reparative, leading to the development of ventricular dysfunction and heart failure. Natriuretic peptides are well-established markers of disease severity and prognosis in patients with heart failure due to noncongenital (acquired) heart disease. However, the role of biomarkers in congenital heart disease is unclear. This review highlights the impact of neurohormonal activation in patients with congenital heart disease, as well as the usefulness of assessing natriuretic peptide levels in specific clinical situations. PMID:23750686

Alonso-Gonzalez, Rafael; Dimopoulos, Konstantinos

2013-06-01

301

Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.  

PubMed

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

2012-05-02

302

Bowel function, mental health, and psychosocial function in adolescents with Hirschsprung's disease.  

PubMed

Congenital intestinal malformations are uncommon and may pose lasting somatic difficulties. Patients with anorectal anomalies have a high frequency of persistent faecal dysfunction and psychosocial problems. This study examined whether adolescents with Hirschsprung's disease have more psychosocial problems than their healthy peers. Nineteen adolescents (mean age 15.7 years) with Hirschsprung's disease were assessed for bowel function, anorectal physiology, mental health, and psychosocial functioning by physical examinations, semistructured interview, and standardised questionnaires. The adolescents were compared with controls. The parents of 13 adolescents with Hirschsprung's disease were interviewed and completed questionnaires. Thirty two per cent of the adolescents with Hirschsprung's disease had significant impairment of continence, but no more psychopathology (16%) nor psychosocial dysfunction as a group than their healthy peers. Faecal incontinence was associated with poorer psychosocial functioning and parental criticism. The fact that a significant number of patients with Hirschsprung's disease have incontinence into adulthood indicates the need for parental counselling, encouraging realistic expectations about continence. PMID:9068296

Diseth, T H; Bjørnland, K; Nøvik, T S; Emblem, R

1997-02-01

303

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

304

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.

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

305

Pancreatic cancer and fibrinogen storage disease.  

PubMed Central

BACKGROUND: Ductal adenocarcinoma is the most common type of pancreatic carcinoma while squamous, carcinosarcoma, sarcoma, giant cell carcinoma, and clear cell types are all rare. Hepatocellular fibrinogen storage disease is also an uncommon disorder which may be associated with hepatocellular carcinoma. Two cases of pancreatic carcinoma were encountered in a family with fibrinogen storage disease, further raising the possibility of a predilection to malignancy in this unusual disorder. The tumour in one case was of the rare clear cell type. These two cases are the basis for this report. METHODS: Sections were cut from retrieved paraffin embedded tissue and stained for routine histology. Immunohistochemistry using the avidin-biotin technique was applied for the expression of the markers p53 (D07), carcinoembryonic antigen (CEA), c-erbB-2, epithelial membrane antigen (EMA), and alpha-fetoprotein (AFP). RESULTS: Both cases were adenocarcinoma of pancreatic ductal origin. The tumour in one case showed features of a clear cell carcinoma. The tumour cells expressed p53, CEA, and EMA immunoreactivity and were negative for c-erbB-2 and AFP. CONCLUSIONS: Hepatocellular fibrinogen storage disease is rare and has been described in association with chronic hepatitis, cirrhosis, and rarely with hepatocellular carcinoma. This represents the first report of its association with carcinoma outside of the liver. Images

Radhi, J M; Lukie, B E

1998-01-01

306

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.

Kneeman, Jacob M.; Misdraji, Joseph

2012-01-01

307

Headaches due to nasal and paranasal sinus disease.  

PubMed

Sinus infections are much less common today than they were in the preantibiotic era, but they still are overdiagnosed. Acute sinusitis, a relatively uncommon cause of headache, is the result of infection of one or more of the cranial sinuses. Acute sinusitis usually is characterized by purulent discharge in the nasal passages and a pain profile determined by the site of infection. Sinusitis is overdiagnosed as a cause of headache because of the belief that pain over the sinuses must be related to the sinuses. In fact, frontal head pain more often is caused by migraine and tension-type headache. It should not follow that if a patient fails to respond to treatment for migraine and tension-type headache one should reconsider the diagnosis of sinus disease. Whether or not nasal obstruction can lead to chronic headache is controversial. Paradoxically, sinus disease also tends to be underdiagnosed, as sphenoid sinus infection frequently is missed. PMID:15062525

Silberstein, Stephen D

2004-02-01

308

Rivastigmine in the treatment of hypersexuality in Alzheimer disease.  

PubMed

Inappropriate sexual behaviors (ISB) represent uncommon and often misdiagnosed clinical disorders among patients with Alzheimer disease. So far, no randomized clinical trials regarding the treatment of ISB in demented people have been conducted, but available data from case series and isolated case reports suggest the efficacy of selective serotonin reuptake inhibitors (SSRIs), antipsychotics, antiandrogens, and H2-receptor antagonists. Controversial data exist on the therapeutic influence of cholinesterase inhibitors on sexual disorders. In the present article, we describe the case of an Alzheimer disease patient presenting hypersexuality, successfully treated with rivastigmine. Thus, we perform a revision of the existing literature regarding the therapeutical effect of cholinesterase inhibitors in the treatment of ISB. PMID:22683665

Canevelli, Marco; Talarico, Giuseppina; Tosto, Giuseppe; Troili, Fernanda; Lenzi, Gian Luigi; Bruno, Giuseppe

309

Orbital rosai-dorfman disease: a literature review.  

PubMed

Abstract Introduction: Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder with a predilection for the head and neck. Isolated orbital involvement without systemic clinical features is very uncommon. Background: Classic histopathologic features include phagocytized but intact lymphocytes within large histiocytes; a conditioned termed emperipolesis. Immunohistochemical stains are strongly positive for S-100 and CD68 but negative for CD1a in most cases. Orbital cases are often amenable to complete surgical resection. Conclusion: RDD should be considered in the differential diagnosis of a young patient in good health who presents with a marked but benign enlargement of an orbital mass. A review of the literature regarding this disease entity and its orbital manifestations is discussed. PMID:23895540

McClellan, Scott F; Ainbinder, Darryl J

2013-07-29

310

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

311

Celiac disease  

Microsoft Academic Search

Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea,

Wolfgang Holtmeier; Wolfgang F Caspary

2006-01-01

312

Paneth's disease.  

PubMed

In about 70% of patients Crohn's disease (CD) affects the small intestine. This disease location is stable over time and associated with a genetic background different from isolated colonic disease. A characteristic feature of small intestinal host defense is the presence of Paneth cells at the bottom of the crypts of Lieberkühn. These cells produce different broad spectrum antimicrobial peptides (AMPs) most abundantly the ?-defensins HD-5 and -6 (DEFA5 und DEFA6). In small intestinal Crohn's disease both these PC products are specifically reduced. As a functional consequence, ileal extracts from Crohn's disease patients are compromised in clearing bacteria and enteroadherent E. coli colonize the mucosa. Mechanisms for defective antimicrobial Paneth cell function are complex and include an association with a NOD2 loss of function mutation, a disturbance of the Wnt pathway transcription factor TCF7L2 (also known as TCF4), the autophagy factor ATG16L1, the endosomal stress protein XBP1, the toll-like receptor TLR9, the calcium mediated potassium channel KCNN4 as well as mutations or inactivation of HD5. Thus we conclude that small intestinal Crohn's disease is most likely a complex disease of the Paneth cell: Paneth's disease. PMID:21122555

Wehkamp, Jan; Stange, Eduard F

2010-07-06

313

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 ...

314

Huntington's Disease  

MedlinePLUS

... with an eye toward understanding how it causes disease in the human body. What research is being done? Scientific investigations ... radicals), tropic factors (natural chemical substances found in the human body that may protect ... Disease Clinical Trials At NIH Clinical Center Throughout the ...

315

[Celiac disease].  

PubMed

Celiac disease is an enteropathy due to gluten intake in genetically predisposed persons (HLA DQ2/DQ8). Celiac disease occurs in adults and children at rates approaching 1% of population in Europe and USA. Clinical presentation of celiac disease is extremely varied. Anaemia, oral aphthous stomatis, amenorrhea or articular symptoms may reveal celiac disease. Diagnosis relies on evidence of duodenal villous atrophy and specific serum antibodies. Treatment relies on eviction of gluten (wheat, barley, rye). Gluten-free diet allows prevention of malignant complications and osteopenia. The main cause of resistance to gluten-free diet is its bad observance. On the contrary, serious complications of celiac disease, such as clonal refractory celiac sprue and intestinal T cell lymphoma need to be screen. PMID:18689116

Malamut, Georgia; Cellier, Christophe

2008-06-15

316

[Lyme disease].  

PubMed

Lyme disease, or Lyme borreliosis, is the most prevalent vector-borne illness in the United States of America and Europe. In the Netherlands, the disease is endemic with an estimated yearly incidence of 133 cases per 100.000 inhabitants. Lyme disease is caused by spirochetes of Borrelia burgdorferi sensu lato and transmitted by Ixodes ticks. Diagnosing the different manifestations of Lyme disease is based on a history of possible exposure to ticks, the appearance of specific clinical symptoms, exclusion of other causes of the symptoms, whether or not combined with serological or other diagnostics tests. Antibiotics are effective in all Lyme disease manifestations and, generally, patients have a good prognosis. PMID:21761794

Coumou, J; Hovius, J W R

2011-06-01

317

Two brothers with myocardial infarction in the absence of atherosclerotic coronary artery disease: spontaneous coronary thrombosis: case reports of two brothers.  

PubMed

Myocardial infarction in the absence of significant atherosclerotic coronary artery disease is not uncommonly encountered in clinical practice. This has been more often seen with the current sensitive biomarker assays for myocardial necrosis. Acute illnesses, spontaneous coronary dissection, sepsis, pulmonary embolism and coagulation disorders are some of the common clinical situation where elevated cardiac markers are noted. We describe two brothers presenting with acute myocardial infarction due to thrombus without any obvious cause. PMID:20014204

Hussain, Jamal; Strumpf, Robert K; Nseir, Georges; Jamal, Ayman; Diethrich, Edward

2009-12-01

318

Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt–Jakob disease  

Microsoft Academic Search

A novel human gene named Doppel (DPL) that has homology to the prion protein gene (PRNP) has recently been identified on chromosome 20p. By automated sequencing we have found a common (M174T, 48%) and an uncommon coding polymorphism. The polymorphic frequency of the M174T allele was examined in cases of variant and sporadic Creutzfeldt–Jakob Disease and compared with the frequency

Simon Mead; Jonathan Beck; Andrew Dickinson; Elizabeth M. C Fisher; John Collinge

2000-01-01

319

Veno-Occlusive Disease of the Liver after High-Dose Cytoreductive Therapy with Busulfan and Melphalan for Autologous Blood Stem Cell Transplantation in Multiple Myeloma Patients  

Microsoft Academic Search

Veno-occlusive disease of the liver (VOD) is a potentially severe complication of high-dose cytoreductive therapy (HDT) used for stem cell transplantation (SCT). This complication is uncommon after HDT for autologous SCT (ASCT) in patients with multiple myeloma (MM). The Spanish Myeloma Group\\/PETHEMA conducted a study (MM2000) for patients with newly diagnosed MM consisting of induction with alternating VBMCP\\/VBAD chemotherapy followed

Enric Carreras; Laura Rosiñol; Maria José Terol; Adrián Alegre; Felipe de Arriba; José García-Laraña; José Luis Bello; Raimundo García; Angel León; Rafael Martínez; M. Jesús Peñarrubia; Concha Poderós; Paz Ribas; Josep Maria Ribera; Jesús San Miguel; Joan Bladé; Juan José Lahuerta

2007-01-01

320

Buerger's Disease  

MedlinePLUS

... Skin ulcerations and gangrene ( pictured below ) of the digits (fingers and toes) are common in Buerger’s disease. ... Even as ulcers and gangrene develop in the digits, organs such as the lung, kidneys, brain, and ...

321

Liver Diseases  

MedlinePLUS

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis ...

322

Disease Resources  

Cancer.gov

Key Programs Disease Resources The ASCUS/LSIL Triage Study for Cervical Cancer (ALTS) Human Papillomavirus Cervical Cancer Screening NCI Bethesda System 2001 The Bethesda System Web Atlas National Cervical Cancer Coalition American Social

323

Legionnaires' Disease  

MedlinePLUS

... LDB and may be a hypersensitivity response to bacterial or other antigens rather than an infection. What ... of contracting disease. For additional information and current statistics, see CDC Patient Facts: Learn More about Legionnaires' ...

324

Addison's Disease  

MedlinePLUS

... measure antibodies associated with autoimmune Addison's disease. ACTH stimulation test. This test involves measuring the level of ... If your adrenal glands are damaged, the ACTH stimulation test shows that your output of cortisol in ...

325

Hirschsprung Disease  

MedlinePLUS

... to pass through the intestines due to missing nerve cells in the lower part of the colon — is ... rectum (short-segment disease). It's more common for nerve cells to stop developing closer to the rectum, since ...

326

Parkinson's Disease  

MedlinePLUS

... of the brain, there is a collection of nerve cells that help control movement, known as the basal ... ah). In a person with Parkinson's disease, these nerve cells are damaged and do not work as well ...

327

Parkinson's disease  

MedlinePLUS Videos and Cool Tools

... disease, dopamine production becomes irregular and inadequate and nerve cells cannot properly transmit messages. This results in the ... of medication that the body converts into dopamine, neurons are able to transmit messages and tremors improve.

328

Celiac Disease  

MedlinePLUS

... nighttime bone pain. Lactose intolerance (a problem digesting milk products) is common in patients of all ages who have celiac disease. Dermatitis herpetiformis (an itchy, blistery skin problem) and ...

329

Parkinson's Disease  

MedlinePLUS

Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough ... or speaking. There is no lab test for PD, so it can be difficult to diagnose. Doctors ...

330

Autoinflammatory Diseases  

MedlinePLUS

... symptoms and the inflammation underlying the disease. Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) TRAPS (TNF ... genetic defect in a protein known as tumor necrosis factor receptor (TNFR). TNFR sits on the surface of ...

331

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

332

Parasitic Diseases  

MedlinePLUS

Parasites are living things that use other living things - like your body - for food and a place ... diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms ...

333

[Celiac disease].  

PubMed

Celiac disease is an enteropathy due to gluten intake in genetically predisposed individuals (HLA DQ2/DQ8). Celiac disease occurs in adults and children at rates approaching 1% of population in Europe and USA. Clinical features observed in celiac disease are extremely various and anaemia, oral aphthous stomatis, amenorrhea or articular symptoms may be the only presenting manifestations. Diagnosis relies on the evidence of histological villous atrophy in proximal small bowel and the presence of specific serum antibodies. Treatment relies on eviction of gluten (wheat, barley, rye) from diet. Gluten free diet allows prevention of malignant complications such as small bowel adenocarcinoma and lymphoma, and osteopenia. The main cause of resistance to gluten free diet is its poor observance. If not the case, serious complications of celiac disease, such as clonal refractory celiac sprue and intestinal T-cell lymphoma should be suspected. Current therapeutic challenges concern alternative to gluten free diet and new efficient treatments of lymphomatous complications. PMID:20359791

Malamut, G; Cellier, C

2010-03-31

334

Parkinson's Disease  

MedlinePLUS

... Parkinson Disease Association 135 Parkinson Avenue Staten Island, NY 10305-1425 apda@apdaparkinson.org http://www.apdaparkinson. ... Central Station P.O. Box 4777 New York, NY 10163 http://www.michaeljfox.org Tel: 212-509- ...

335

Lyme Disease  

MedlinePLUS

... effectively treat Lyme disease. These medicines can help speed healing of the erythema migrans rash and keep ... to prevent ticks from crawling under clothing. Wear light-colored clothing to make it easier to spot ...

336

Planning Diseases.  

ERIC Educational Resources Information Center

|To solve societal problems, both local and global, a global approach is needed. Serious diseases that are crippling present-day problem solving and planning are discussed, and the characteristics of a healthy, effective planning approach are described. (RM)|

Gabel, Medard

1984-01-01

337

Lung Diseases  

MedlinePLUS

... Environmental Health (259KB) A Human Health Perspective on Climate Change (Full Report) (4MB) Certain Glass Wool Fibers (Inhalable) ( ... Environmental Public Health (PEPH) (357KB) Programs and Initiatives: Climate Change and Human Health Respiratory Disease and the Environment ( ...

338

Behcet's Disease  

MedlinePLUS

... and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoinflammatory reaction ... or disease, marked by four signs: swelling, redness, heat, and pain. Meningitis. Inflammation of the membranes that ...

339

Dupuytren's Disease  

MedlinePLUS

... is required or that the disease will progress. Correction of finger position is best accomplished with milder ... that affect the base of the finger. Complete correction sometimes can not be attained, especially of the ...

340

[Prion disease].  

PubMed

Human prion diseases are classified into 3 categories according to etiologies: idiopathic of unknown cause, acquired of infectious origin, and genetic by PRNP mutation. The surveillance committee have analyzed 2,494 cases and identified 1,402 as prion diseases. Most of them are idiopathic, namely sporadic CJD (77%) with less genetic and acquired prion diseases (17% and 5%, respectively). The number of patients identified by the surveillance committee in these years is about 120 which are less than the number of annual death of prion disease. The difference might be due to partly the fact our surveillance need the consent from patients' family and is not complete. The mean age at onset of prion disease is late 60s while the range is fairly wide. Brain MRIs and increase of CSF 14-3-3 and tau protein levels are very characteristic. Classical sporadic CJD could show completely normal T1WI with patchy high signals in the cerebral cortex and basal ganglia on DWI. In Japan, classical sporadic CJD (MM1) is most popular but there are some rare atypical subtypes. Among them, MM2-thalamic CJD is hardest to diagnose because it shows no high intensity signals on DWI, in addition to frequent absence of CSF and EEG characteristics. In this case, CBF decrease in the thalamus on SPECT is very helpful. Genetic prion diseases in Japan are quite distinct from those in Europe. V180I and M232R mutations are unique to Japan and show sporadic CJD phenotype. Dura graft-associated CJD (dCJD) are composed of 67% of classical sporadic CJD phenotype and 33% of atypical phenotype showing slower progression with amyloid plaques. Trace-back experiments suggested the PrP(sc) of the atypical dCJD was likely to be modified from infection of abnormal VV2 protein. Although there are some atypical forms of prion diseases as mentioned above, almost all prion cases could be diagnosed with EEG, MRI, genetic test, CSF test and SPECT. We also have some incidents in which brain surgery was done before the diagnosis of prion disease and many other patients were operated using the same operating instruments before their sterilization against prion disease had been done. The explanation of possibility of prion disease infection to the patients and their follow-up was started by the incident committee. It is very important for all the nations to cooperate with each other in order to overcome this intractable disease. PMID:21921445

Mizusawa, Hidehiro

2010-11-01

341

Graves’ Disease  

Microsoft Academic Search

Hyperthyroid Graves’ disease is one of the commonest autoimmune disorders, affecting about 1% of women. It is most frequent\\u000a in the 4th decade of life. There is a genetic predisposition to Graves’ disease, determined by alleles at the major histocompatibility\\u000a complex (MHC), cytotoxic T-lymphocyte-associated antigen (CTLA-4), protein tyrosine phosphatase non-receptor 22 (PTPN22), and other less well-defined chromosomal loci. Additional, non-genetic,

Simon H. S. Pearce

342

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

343

Moyamoya Disease  

Microsoft Academic Search

\\u000a Moyamoya disease is a chronic cerebrovascular disorder with spontaneous occlusion (stenosis) of terminal part of internal\\u000a carotid arteries bilaterally, along with angiogenesis at the base of the brain. Moyamoya disease is found predominantly among\\u000a those of Japanese and Korean descent; however cases now have been described worldwide. Moyamoya has a bimodal age distribution,\\u000a as it also affects children less than

Ahmed Itrat; Ayeesha Kamal

344

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

345

Celiac disease  

Microsoft Academic Search

Clinically, celiac disease has always been regarded as a wasting, malabsorptive disorder due to disease of the small intestinal\\u000a mucosa. It has been difficult for clinicians to recognize that this condition is primarily due to sensitization of mesenteric\\u000a T lymphocytes to wheat protein (gluten) in genetically predisposed (DQ2+) individuals. On contact with dietary-derived gluten in the upper intestine, these sensitized

Debbie Williamson; Michael N. Marsh

2002-01-01

346

Whipple Disease  

Microsoft Academic Search

\\u000a A rare and chronic infection occurring primarily in Caucasian males and caused by the microorganism Tropheryma whipplei, Whipple disease involves the small intestine, where it leads to malabsorption, but it also causes a systemic infection with\\u000a extraintestinal signs and symptoms. It is currently thought that an abnormal host response may play a central role in the\\u000a pathogenesis of the disease,

George T. Fantry

347

Celiac disease.  

PubMed

As many as one in every 100 to 200 persons in the United States has celiac disease, a condition resulting from an inappropriate immune response to the dietary protein gluten. The manifestations of celiac disease range from no symptoms to overt malabsorption with involvement of multiple organ systems and an increased risk of some malignancies. When celiac disease is suspected, initial testing for serum immunoglobulin A (IgA) tissue transglutaminase (tTG) antibodies is useful because it offers adequate sensitivity and specificity at a reasonable cost. A positive IgA tTG result should prompt small bowel biopsy with at least four tissue samples to confirm the diagnosis. However, 3 percent of patients with celiac disease have IgA deficiency. Therefore, if the serum IgA tTG result is negative but clinical suspicion for the disease is high, a serum total IgA level may be considered. Screening of asymptomatic patients is not recommended. The basis of treatment for celiac disease is adherence to a gluten-free diet, which may eliminate symptoms within a few months. Patients should also be evaluated for osteoporosis, thyroid dysfunction, and deficiencies in folic acid, vitamin B12, fat-soluble vitamins, and iron, and treated appropriately. Serum IgA tTG levels typically decrease as patients maintain a gluten-free diet. PMID:18217518

Presutti, R John; Cangemi, John R; Cassidy, Harvey D; Hill, David A

2007-12-15

348

Interstitial lung disease associated with drug therapy  

PubMed Central

Drug-associated interstitial lung disease (ILD) is not uncommon, with diverse patterns ranging from benign infiltrates to the potentially fatal acute respiratory distress syndrome. As acute respiratory failure due to drug-associated ILD has an unpredictable onset and rapid time course, establishing a diagnosis is often difficult. An accurate diagnosis is based on clinical, radiological (including high-resolution computed tomography) and histological manifestations, although is often only possible by exclusion. Cancer chemotherapy is commonly associated with acute disease that, on pathology, is often diffuse alveolar damage. Furthermore, a combination of drugs with or without radiotherapy can increase the risk of ILD. This article reviews treatments for non-small-cell lung cancer (NSCLC) that are associated with the development of ILD and how systematic evaluation of the possible role of these drugs in ILD is warranted. A difference between Japan and the rest of the world in reporting rates of ILD when gefitinib (‘Iressa’) has been used in advanced NSCLC is also discussed. However, the difference remains unexplained, leaving important epidemiological and mechanistic questions.

Camus, P; Kudoh, S; Ebina, M

2004-01-01

349

Behcet's disease.  

PubMed

Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody and thalidomide are encouraging, specifically in treatment for the cases with poor prognosis including eye, intestine, vessel and CNS involvement. Low dose weekly administration of methotraxate looks effective for the cases with CNS involvement. Further studies for elucidation of the etiology, improvement of the diagnostic criteria and development of new therapy are needed to conquer the disease. PMID:15598081

Suzuki Kurokawa, M; Suzuki, N

2004-09-01

350

Behçet's disease.  

PubMed

Behçet's disease is a chronic, relapsing vasculitis that can affect most organ systems. The prevalence varies geographically, and the disease is more common in countries along the ancient Silk Road, including Italy, Turkey, Israel, Saudi Arabia, Iran, China, Korea and Japan. Behçet's is more common in men than in women, and typically affects young adults. The classic finding in Behçet's patients is the presence of recurrent mucocutaneous ulcers, and oral aphthous ulcerations are usually the initial symptom. Other manifestations include genital ulcers, skin lesions, vascular, neurological, articular, and ocular disease. The disease can affect the anterior and/or posterior segments of the eye, and the main manifestations include iridocyclitis, hypopyon, mild to moderate vitreitis, retinal vasculitis and occlusion, optic disc hyperemia, and macular edema. There is no pathognomonic laboratory test in Behçet's disease, and the diagnosis is based in systemic and ocular clinical findings. Treatment of ocular Behçet is based in corticosteroids and immunosuppressive agents, to suppress acute inflammation and reduce its recurrence frequency. Ocular lesions may improve with immunosuppressive therapy, but usually are not fully reversible, and generally progress over time. The prognosis of anterior uveitis is usually good, but patients with posterior lesions tend to have some degree of visual loss, even with adequate treatment. PMID:16282155

Bonfioli, Adriana A; Orefice, Fernando

351

Huntington's disease.  

PubMed

Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between infancy and senescence. The mutant protein in Huntington's disease--huntingtin--results from an expanded CAG repeat leading to a polyglutamine strand of variable length at the N-terminus. Evidence suggests that this tail confers a toxic gain of function. The precise pathophysiological mechanisms of Huntington's disease are poorly understood, but research in transgenic animal models of the disorder is providing insight into causative factors and potential treatments. PMID:17240289

Walker, Francis O

2007-01-20

352

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

353

Primary malignant melanoma of the esophagus: a rare and aggressive disease  

PubMed Central

Primary malignant melanoma of the esophagus is an uncommon tumor, with approximately 300 cases having been reported thus far. The purpose of this study was to describe a case of a 60 year-old man with a 10 month history of progressive dysphagia and thoracic pain, the investigations of which led to a diagnosis of primary malignant melanoma of the esophagus. The patient underwent a transhiatal esophagectomy with subcarinal lymphadenectomy, and isoperistaltic gastric tube replacement of the esophagus. Nine months after surgery, he developed ischemic colitis, and metastasis in the mesentery was diagnosed. His disease progressed and he died one year after the esophagectomy. A review of the literature was performed.

2013-01-01

354

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; de Oliveira, Maria Leide W D R; Gontijo, Bernardo; Talhari, Carolina; Penna, Gerson Oliveira

2012-12-01

355

2-Acylamino-6-pyridones: breaking of an intramolecular hydrogen bond by self-association and complexation with double and triple hydrogen bonding counterparts. Uncommon steric effect on intermolecular interactions.  

PubMed

2-Acylamino-6-pyridones (acyl = RCO, where R = Me, Et, i-Pr, t-Bu, and 1-adamantyl) were previously characterized by X-ray diffractometry and solid-state NMR techniques by us. One of these compounds was used recently in organocatalysis. The series is now studied in solution and by computational methods recommended for noncovalent interactions (DFT/M05). These compounds showed interesting behavior during dilution and titration experiments monitored by (1)H NMR. 2-Acylamino-6-pyridones change their conformation at higher concentrations, forming double hydrogen-bonded dimers and trimers in which an uncommon steric effect is observed. To the best of our knowledge, this is the first example of such behavior of hydrogen-bonded molecules. Heterocomplexation of the studied compounds happens via double or triple hydrogen bonding, depending on the properties of the counterpart. The computation data support and explain the effects observed experimentally, including the tautomeric, closed/open form equilibrium and intermolecular interaction preferences. PMID:22263658

O?mia?owski, Borys; Kolehmainen, Erkki; Kowalska, Magdalena

2012-02-02

356

Rickettsial diseases  

Microsoft Academic Search

Rickettsial diseases are transmitted by arthropod vectors and are responsible for various spotted and typhus fevers. Epidemic typhus fever (Rickettsia prowazekii) occurs in prisons, in refugee camps and during wars, when lice thrive in unhygienic, overcrowded conditions. Endemic typhus (R. typhi) arises when humans live close to flea-infested rodents, typically near granaries, breweries, shops and garbage tips. Spotted fever infections

Nicola Jones

2005-01-01

357

Whipple's disease  

Microsoft Academic Search

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.

Ranjit N Ratnaike

2000-01-01

358

Meniere's Disease  

MedlinePLUS

... about your symptoms and ask you to describe what happens when you have an attack. Your doctor will want to rule out other ear problems, so he or she may do some tests. These tests might include hearing and blood tests, an MRI or CT ... What is the treatment for Meniere's disease? There is ...

359

Lung Diseases  

MedlinePLUS

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to ... you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in ...

360

Wilson's Disease  

MedlinePLUS

... to test for excess copper. Genetic testing. A blood test called DNA mutation analysis can identify the genetic mutations that cause Wilson's disease. This test is available at a limited number of medical centers and is done using a small sample of blood drawn from your arm or collected from a ...

361

Newcastle disease  

Microsoft Academic Search

1. In this paper several historical and contemporary aspects of Newcastle disease (ND) are reviewed, with particular reference to the greater understanding which modern techniques have allowed. 2. Virulent ND viruses were generally thought to have emerged in 1926 as a result of transfer from a wild bird host reservoir but there is evidence that the virulent virus may have

Dennis J. Alexander

2001-01-01

362

Hunger Disease  

Microsoft Academic Search

This paper examines three aspects of hunger disease: the effect of initial fat stores on macronutrient fuel selection during total starvation (no energy) and how it influences survival; the effects of different rates of weight loss on tissue and body function; and the importance of appetite sensations, including hunger, during malnutrition and during enteral and parenteral nutritional support. Long-term starvation

M. ELIA

2000-01-01

363

MAREK'S DISEASE  

Technology Transfer Automated Retrieval System (TEKTRAN)

Marek's disease virus (MDV) is able to induce a variety of syndromes and pathological manifestation in chickens. Because of its economic impact, the development of lymphomas in nerves and viscera is the pathological feature that has received the greatest attention. Nonetheless, there are other syndr...

364

Krabbe's disease  

Microsoft Academic Search

Ultrastructural studies of brain and sural nerve biopsy specimens from a patient with Krabbe's disease disclosed periodically constricted or twisted tubules in addition to the more abundant and characteristic crystalloid and prismatic structures within macrophages. It is suggested that the twisted tubules may result from the intracellular accumulation of lactosyl ceramide. Familiarity with these unusual tubular structures is of practical

Sydney S. Schochet; William F. McCormick; Gerald F. Powell

1976-01-01

365

orphan diseases  

Microsoft Academic Search

\\u000a WHO: pathological conditions affecting 65 to 100\\/100,000 of the general population; FDA: incidence <20\\/100,000; EC: ?50\\/100,000;\\u000a many o.d. have a genetic origin; ? see also genetic diseases.

Gerhard Nahler

366

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

2013-03-18

367

Avocado diseases  

Microsoft Academic Search

Several fungi can cause diseases of avocado (Persea americana (Mill.)) of which Phytophthora cinnamomi Rands is the most serious. Phytophthora root rot causes extensive losses of avocado trees in nearly every country where avocados are grown. The fungus can be isolated from soil and roots by using selective agar media containing antibiotic chemicals and by using various types of baits

G. A. Zentmyer

1984-01-01

368

Addison Disease  

MedlinePLUS

... body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system ... blood pressure Patchy or dark skin Lab tests can confirm ...

369

Infectious Diseases  

NSDL National Science Digital Library

With the threat of a warmer, wetter world and a larger global population, scientists are researching how climate change may impact the spread of infectious diseases,Âsuch as cholera and dengue fever, and how outbreaks may be prevented. "Changing Planet" is produced in partnership with the National Science Foundation.

Learn, Nbc

2010-10-07

370

Behçet's disease  

Microsoft Academic Search

Behçet's disease is a systemic vasculitis of unknown aetiology characteristically affecting venules. Onset is typically in young adults with recurrent oral and genital ulceration, uveitis, skin manifestations, arthritis, neurological involvement, and a tendency to thrombosis. It has a worldwide distribution but is prevalent in Japan, the Middle East, and some Mediterranean countries. International diagnostic criteria have been proposed, however diagnosis

V Kontogiannis; R J Powell

2000-01-01

371

[Castlemans disease].  

PubMed

Castlemans disease is a rare but potentially serious diagnosis and, therefore, this paper aims to enhance the medical community's knowledge of this diverse disease. This is a non-malignant angiofollicular nodular hyperplasia. There are three types according to the histological picture - hyalinvascular, plasmocellular and plasmablastic, and two types according to the clinical picture - unicentric and multicentric. The symptoms are rather heterogeneous, from an asymptomatic mass seen in the unicentric form, to life-threatening systemic inflammatory state with systemic symptoms in the multicentric form. Pathophysiological mechanism involves hypersecretion of IL-6 cytokin, although the process trigger is known only in a small proportion of cases. This is HHV-8 infection that, however, is not found in every patient with Castlemans disease. Aetiology in HHV-8 negative patients is unclear. The disease is associated with a range of autoimmune conditions and some haematological malignancies. Surgical resection, some-times followed with radiotherapy, is the gold standard in the treatment of the unicentric form. Anti-IL-6 monoclonal antibodies are the optimal therapy of the multicentric form, although other modalities, including corticosteroids, chemotherapy (CHOP, CVAD), immunomodulators and rituximab, given in monotherapy or in combination, are more accessible in real practice. PMID:22486288

Majer?áková, D

2012-03-01

372

Castleman disease  

PubMed Central

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.

Al-Amri, Ali M.

2012-01-01

373

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

374

Hodgkin's Disease  

Microsoft Academic Search

Two hundred and fifty cases of histologically proven Hodgkin's disease have been reviewed. These cases were classified according to the Rye Conference histological classification (Lukes et al., 1966a) and according to the Cross classification (Cross, 1969). Overall, both classifications were reasonably effective in predicting prognosis but that of Cross with its seven sub-groups proved more difficult to use than the

K A Newton; D H Mackenzie; Margaret F Spittle; Anna Mikolajczuk

1973-01-01

375

Peyronie's Disease  

MedlinePLUS

... man’s self-esteem. In a small percentage of men with the milder form of the disease, inflammation may resolve ... most doctors prefer to perform surgery only on the small number of men with curvature severe enough to prevent sexual intercourse. [ ...

376

Prionic diseases.  

PubMed

Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD) and its variants, Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI)] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 - and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases. PMID:24141515

Araújo, Abelardo Q-C

2013-09-01

377

Coronary artery disease and myocardial infarction in pregnancy: A review of epidemiology, diagnosis, and medical and surgical management  

PubMed Central

Ischemic heart disease is uncommon during pregnancy, occurring in approximately one in 10,000 live births. With the increasing age and fertility of mothers, the incidence of coronary artery disease in pregnancy is likely to increase. Atherosclerosis appears to be the most common cause of acute myocardial infarction, although coronary spasm, coronary dissection and thrombus have been reported, among others. The diagnosis of ischemic heart disease in the pregnant population can be challenging and not without risk to the fetus. Although there have been many reports of acute myocardial infarction and cardiopulmonary bypass surgery during pregnancy, most knowledge is based on anecdotal reports. Even less is known about the use of thrombolytics, percutaneous coronary intervention and the optimal medical management of ischemic heart disease during pregnancy. The epidemiology, diagnosis, medical and surgical treatment, and prognosis of ischemic heart disease in pregnancy are the subject of the present review.

Kealey, Angela J

2010-01-01

378

Inflammatory Bowel Disease in Children, an Evolving Problem in Kuwait  

PubMed Central

Background/Aims: Inflammatory bowel disease (IBD) was previously thought a rare disease among children in Kuwait since most diarrhea cases were attributed to infections. In the past few years we observed an increase in the number of patients presenting with IBD. In this study we aimed to determine the epidemiology of IBD among children in the State of Kuwait. Patients and Methods: The charts of all children with IBD who were referred to the pediatric gastroenterology unit during the period February 1998 to January 2008 were retrospectively reviewed. Results: Out of a total of 130 children with IBD, 92 (71%) had Crohn's disease, 36 (28%) had ulcerative colitis and two (1%) had indeterminate colitis. The estimated annual incidence for IBD was 2.16/105 /year. The age range was nine months-15 years (median: 11 years). Fifty-three percent of all patients were females and 77% were Kuwaiti nationals. Positive family history was found in 23%. The commonest presenting symptoms were abdominal pain (87%) and diarrhea (82%). Failure to thrive was detected in 35% and short stature in 20% at presentation. The ileocolonic region was the most common presentation site affected in Crohn's patients and pancolitis was the commonest in ulcerative colitis. Conclusion: Inflammatory bowel disease is not uncommon in our children. We found no differences regarding disease presentation and clinical features compared to the Western world.

Al-Qabandi, Wafa'a A.; Buhamrah, Eman K.; Hamadi, Khaled A.; Al-Osaimi, Suad A.; Al-Ruwayeh, Ahlam A.; Madda, JohnPatrick

2011-01-01

379

[Digital necrosis in hand by uncommon mechanism].  

PubMed

A 43-year-old, non-smoking man presented with acute ischemic lesions of his left hand. He had been taking beta-blockers for his arterial hypertension. The day before the occurrence of these acute lesions, he self medicated with a drug containing ergotamine and caffeine because of a headache. About one hour after mild trauma to the hand, he noticed intense cyanosis accompanied by severe pain in the fingers that progressed to digital necrosis. Hematological tests, hand radiography, echo Doppler, and nailfold videocapillaroscopy were performed. Digital necrosis owing to an unusual combination of ischemic mechanisms is assumed. PMID:24010508

Leroux, Maria Bibiana; Lashak, Celina; Mazzurco, Martin

2013-07-14

380

Uncommon radiological findings: a case report.  

PubMed

A 50-year-old friendly and attractive Chinese lady was examined by the Primary Care Unit, Faculty of Dentistry, University of Malaya. Her requests for treatment included implants and crowns. Two periapical radiographs of teeth 16 and 48 were taken to aid diagnosis. Interestingly, pin-like radio-opaque objects were found over the crown of the impacted tooth 15 and also tooth 17. These objects were initially interpreted as silver points or radiographic artifacts but further investigation employing panoramic radiography revealed the distribution of more radio-opaque objects in the orofacial region. Based on a review of the literature and the opinion of experienced radiology and oral surgery lecturers, these foreign radio-opaque objects were diagnosed as susuks or charm needles. PMID:17695738

Tandjung, Yeti Rosalina Muslim; Hong, Chu Pei; Nambiar, Phrabhakaran; Ibrahim, Norliza

2007-06-01

381

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

382

Pott's Puffy Tumor: An Uncommon Clinical Entity  

PubMed Central

Although first described in 1760, Pott's puffy tumor is a lesser known clinical entity. Often seen as a complication of frontal sinusitis, Pott's is a frontal bone osteomyelitis with an associated subperiosteal abscess. Patients present with a fluctuant swelling of the scalp. The diagnosis is often confirmed with computed tomography (CT). Prompt surgical and medical treatments are the rule as there is the potential for significant morbidity if not quickly diagnosed and treated. Herein, we describe the presentation, diagnosis, and treatment of an 8-year-old female presenting with Pott's puffy tumor.

Suwan, Phillip T.; Mogal, Suvarna; Chaudhary, Subhash

2012-01-01

383

An uncommon late complication of appendicitis.  

PubMed

A 10-year-old boy presented with a 2.5-week history of right leg pain and limp. A right flank mass was noted by a parent on the day of presentation. The child's past medical history was remarkable for perforated appendicitis treated with an interval laparoscopic appendectomy 2 years before this presentation. Abdominal and pelvic computed tomography revealed a retroperitoneal mass with calcifications, suggestive of a retained appendicolith with abscess formation. This case illustrates the importance of considering very late complications of appendicitis in patients presenting with fever and abdominal or flank pain or masses. PMID:20930600

Lapus, Robert M; Baker, Mark D

2010-10-01

384

An uncommon suicide method: self-strangulation.  

PubMed

The suicide act of self-strangulation must be distinguished from homicide, which needs objective scene investigation, autopsy and anamnesis in order to elucidate the manner of death. A 54-year-old man was found dead in public hospital small mosque. There was one nylon rope around his neck, tied together with a knot in the front, under the chin, and rope continuing tightly to right ankle supported by the jacket bandaged around right ankle for preventing the sliding of the rope was detected. A proper medico-legal evaluation of the crime scene and postmortem examination with systematical inspection are of great importance in such cases. PMID:23409528

Turkmen, Nursel; Eren, Bulent; Uyaniker, Zehra Demiroglu; Ergonen, Akça Toprak

2012-01-01

385

Coexistence of pheochromocytoma with uncommon vascular lesions  

PubMed Central

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

Kota, Sunil Kumar; Kota, Siva Krishna; Meher, Lalit Kumar; Jammula, Sruti; Panda, Sandip; Modi, Kirtikumar D.

2012-01-01

386

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.

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

2013-01-01

387

Uncommon presentation of a common disorder.  

PubMed

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

388

Encephalocystocele - uncommon diagnosis in prenatal medicine.  

PubMed

Encephalocystocele is a developmental malformation characterized by brain herniation accompanied with extracranial cystic protrusion of the ventricular system. This nosological unit is often overlooked and insufficiently classified merely as encephalocele. Herein, two exceptionally clear cases of the parieto-occipital cranioschisis with encephalocystocele and congenital hydrocephalus of the lateral ventricles are documented with 2-dimensional/3-dimensional sonographic images and the corresponding MRI findings. In both cases, prenatal diagnosis was confirmed by autopsy. PMID:23095453

Dankovcik, Robert; Vyhnalkova, Vlasta; Muranska, Stela; Kucera, Eduard; Korpova, Maria; Plichtova, Anna; Miklosova, Maria; Ferianec, Vladimir; Evangelista Jirasek, Jan; Dudas, Marek

2012-10-24

389

“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

390

Methylation--an uncommon modification of glycans.  

PubMed

A methyl (Me) group on a sugar residue is a rarely reported event. Until now, this type of modification has been found in the animal kingdom 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 Me groups on the sugar vary with species. Methylation appears 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 types of organism. PMID:22944672

Staudacher, Erika

2012-08-01

391

Uncommon Caring: Primary Males and Implicit Judgments.  

ERIC Educational Resources Information Center

|The caring and nurturing of children, which characterize primary education culture, have tended to shape a public perception of primary teaching as "women's work." Several social factors influence men's underrepresentation in the profession of primary education, such as parents not wanting their children exposed to "soft" males. Male primary…

King, James R.

392

The common premise for uncommon conclusions.  

PubMed

Recent controversy over philosophical advocacy of infanticide (or the comically-styled euphemism 'postnatal abortion') reveals a surprisingly common premise uniting many of the opponents and supporters of the practice. This is the belief that the moral status of the early fetus or embryo with respect to a right to life is identical to that of a newly born or even very young baby. From this premise, infanticidists and strong anti-abortionists draw opposite conclusions, the former that the healthy newly born have no inherent right to life and the latter that minute embryos and the very early fetus have the same right to life as young babies. (Indeed strong anti-abortionists tend to regard this right to life as identical to that possessed by adult humans.) This paper argues that these opposed conclusions are both deeply implausible and that the implausibility resides in the common premise. The argument requires some attention to the structure of the philosophical case underpinning the supposed vice of speciesism that has been given intellectual currency by many philosophers, most notably Peter Singer, and also to the reasoning behind the strong anti-abortionist adoption of the common premise. PMID:23637428

Coady, C A J

2013-05-01

393

Ischiogluteal bursitis: an uncommon type of bursitis  

Microsoft Academic Search

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

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

2004-01-01

394

Adult laryngomalacia: An uncommon clinical entity  

Microsoft Academic Search

A 27-year-old female presented with a several-day history of acute onset inspiratory stridor and shortness of breath that worsened with phonation and minimal exertion. Flexible fiberoptic direct laryngoscopy revealed prolapse of the mucosa overlying the arytenoid cartilages bilaterally, consistent with type 1 laryngomalacia. These symptoms persisted with only minimal improvement despite administration of short-term corticosteroids, several weeks of antireflux medications,

Eric M. Gessler; Eric J. Simko; John H. Greinwald

2002-01-01

395

Sexsomnia: An uncommon variety of parasomnia  

Microsoft Academic Search

Sexsomnia is considered a particular form of parasomnia characterized by atypical sexual behaviour during sleep. Only a few cases have been reported in the literature. We describe here two cases of sexsomnia that took place in adult women whose personal history was remarkable for traumatic sexual psychological stress during childhood. In addition, the first patient had a medical history of

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

2010-01-01

396

An uncommon malignant cutaneous squamomelanocytic tumor  

PubMed Central

The intermingling of two malignant neoplasms within the same cutaneous tumor is rare. No consensus has been reached for a clear definition and categorization. In the current study, we describe a cutaneous neoplasm; a squamomelanocytic tumor (SMT) with histological features combining those of a squamous cell carcinoma (SCC) and a malignant melanoma (MM). This is the second report of an oculocutaneous SMT, and concerns a subject with a 20-year history of solar lentigo coexisting with solar keratosis in the primary lesion. This type of tumor is quite rare, with a distinct cytological architecture and immunohistochemical features, and the differential diagnosis of SMT may be considered. However, the histogenesis, biological behavior and malignant potential of SMTs remain a matter of speculation. With regard to the treatment, complete surgical resection and close follow-up are recommended.

WANG, HONG-YAN; ZHANG, XUE-BIN; SU, RU-JUAN; WANG, CHUN-BAO; LIU, XI

2013-01-01

397

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

398

[Uncommon variants of malignant melanocytic neoplasms].  

PubMed

Benign and malignant melanocytic neoplasms are relatively frequent and show a broad morphological heterogeneity. The spectrum of malignant melanomas comprises the four main types, superficial spreading malignant melanoma, nodular malignant melanoma, lentigo-maligna melanoma and acrolentiginous malignant melanoma. In addition the rare spitzoid malignant melanoma, desmoplastic malignant melanoma as well as some unusual variants of malignant melanoma can be distinguished. The latter include nevoid malignant melanoma, a form of malignant melanoma resembling benign melanocytic nevi, animal type malignant melanoma, an atypical melanocytic neoplasm with numerous melanophages and prominent melanosis resembling an atypical epithelioid blue naevus as well as regressive malignant melanoma, and representing a questionably distinct entity, balloon cell and signet-ring malignant melanomas, melanoma types with degenerative clear cell changes, as well as myxoid and osteogenic malignant melanomas that are characterized by unusual stromal changes. PMID:17846776

Mentzel, T

2007-11-01

399

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

400

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.

Staudacher, Erika

2013-01-01

401

Adolescent Girls' Zines: Uncommon Pages and Practices.  

ERIC Educational Resources Information Center

Stephen Duncombe has written one of the only book-length studies examining the phenomenon of "zines.""Note from Underground: Zines and the Politics of Alternative Culture" traces the historical rise in zine popularity beginning with fanzines of the 1930s, fueled in the 1970s by the punk movement, and reaching a height in the 1990s. In his…

Sinor, Jennifer

402

Hepatic haemangioma: Common and uncommon imaging features.  

PubMed

The haemangioma, the most common non-cystic hepatic lesion, most often discovered by chance, may in certain situations raise diagnostic problems in imaging. In this article, the authors first demonstrate that the radiological appearance of the hepatic haemangioma, in its typical form, is closely related to three known histological sub-types. They then show that certain atypical features should be known in order to establish a diagnosis. They also observe the potential interactions between the haemangioma, an active vascular lesion, and the adjacent hepatic parenchyma. Finally, they discuss the specific paediatric features of hepatic haemangiomas and illustrate the case of a hepatic angiosarcoma. PMID:23796395

Klotz, T; Montoriol, P-F; Da Ines, D; Petitcolin, V; Joubert-Zakeyh, J; Garcier, J-M

2013-06-21

403

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.

2010-01-01

404

[Infective fungal endocarditis in patients with no previous cardiac disease].  

PubMed

Infective endocarditis is a serious and uncommon condition affecting the endocardium. Less than 10% of these cases are of fungal origin. A growing number of individuals are at high risk, due to insertion of central venous catheters, total parenteral nutrition and prolonged exposure to broad-spectrum antibiotics, even without previous heart diseases. We retrospectively analysed the records of six children with Candida endocarditis, reviewing the comorbidities, clinical outcome, and treatment. The antifungal agents used were amphotericin B, 5-?uorocytosine and fluconazole. Patients underwent surgical excision of vegetation, five tricuspid valve repairs and one mitral valve replacement. There were no hospital deaths, and one child needed a new valvuloplasty one year later. The mean follow up was five years, and all have good valvular function without recurrent endocarditis. A combination of synergistic long-term antifungal treatment and early surgical intervention is recommended. PMID:22841655

Marcano Sanz, L; Naranjo Ugalde, A; González Guillén, A; Bermúdez Gutiérrez, G; Frías Griskho, F

2012-07-28

405

Role of sensitization to mammalian serum albumin in allergic disease.  

PubMed

Serum albumin (SA) constitutes an intriguing puzzle that is involved in allergic sensitizations from different sources and induces different clinical manifestations. In this article, we describe the role of sensitization to SAs in inducing allergic diseases and the complex interactions and cross-reactivity between SA resulting from its presence in various mammalian tissues and fluids. SAs alone are an uncommon cause of allergic sensitization in airways, but these allergenic proteins likely play a significant role as cross-reacting allergens in individuals sensitized to several types of animal dander. SAs are a minor allergen in milk but a major allergen in meats. Recently, bovine SA has been added to the culture medium of spermatozoids used for artificial insemination. As a consequence, some case reports have shown that bovine SA may be a causative agent in severe anaphylaxis after standard intrauterine insemination or in vitro fertilization. PMID:21809117

Liccardi, Gennaro; Asero, Riccardo; D'Amato, Maria; D'Amato, Gennaro

2011-10-01

406

Castleman disease mimicked pancreatic carcinoma: report of two cases  

PubMed Central

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.

2012-01-01

407

[Perthes disease].  

PubMed

The Legg-Calve-Perthes disease is an idiopathic avascular necrosis of the hip during early childhood. It is characterized by different stages with the main risk of persisting hip deformation, dysfunction of the joint movement, and the potential for early osteoarthritis. For the evaluation of prognosis and therapy planning patients age and extent of the necrotic area of the epiphysis are important factors. For an early diagnosis and sufficient therapy all radiological efforts have to be performed. MR imaging is an ideal method for the assessment of osteonecrotic changes of the Morbus Perthes. Compared to plain radiography by MR imaging pathologic alterations can be detected earlier and with higher specificity. However, conventional radiograms have to be still used as basic imaging modality. Nowadays x-rays and MR imaging should be the main methods for the evaluation of children suffering from Perthes disease. PMID:12149903

Kramer, J; Hofmann, S; Scheurecker, A; Tschauner, C

2002-06-01

408

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

409

Chest Diseases  

PubMed Central

The Council on Scientific Affairs of the California Medical Association presents the following epitomes of progress in chest diseases. Each item, in the judgment of a panel of knowledgeable physicians, has recently become reasonably firmly established, both as to scientific fact and clinical importance. The items are presented in simple epitome, and an authoritative reference, both to the item itself and to the subject as a whole, is generally given for those who may be unfamiliar with a particular item. The purpose is to assist busy practitioners, students, researchers, and scholars to stay abreast of progress in medicine, whether in their own field of special interest or another. The epitomes included here were selected by the Advisory Panel to the Section on Chest Diseases of the California Medical Association, and the summaries were prepared under the direction of Dr Cosentino and the panel.

Baydur, Ahmet

1994-01-01

410

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

411

Celiac disease  

Microsoft Academic Search

Celiac disease (CD), or gluten-sensitive enteropathy, is a life-long disorder characterized by a severe damage of the small intestinal mucosa when ingesting gluten, a protein fraction found in wheat, rye and barley. Both in Europe and in the United States, the prevalence of CD in the general population is high, ranging between 0.3 and 1%. The clinical spectrum is highly

Carlo Catassi; Fabiola Fornaroli; Alessio Fasano

2002-01-01

412

Celiac Disease  

Microsoft Academic Search

\\u000a Celiac disease (CD) is an autoimmune disorder occurring in genetically susceptible individuals, triggered by gluten and related\\u000a prolamins, and plant storage proteins found in wheat, barley, and rye. It affects primarily the small intestine, where it\\u000a progressively leads to flattening of the small intestinal mucosa and subsequent nutrient malabsorption. Its pathogenesis involves\\u000a interactions among genetic, environmental, and immunological factors. Well-identified

Stefano Guandalini

413

Lyme disease  

PubMed Central

Abstract Objective To determine physicians’ level of awareness and knowledge of Lyme disease (LD) in a low-prevalence area and whether physicians’ practices align with current guidelines for treatment of LD. Design A 23-item questionnaire assessing demographic characteristics, general knowledge about LD, laboratory testing for LD, and responses to 3 clinical scenarios. Setting British Columbia (BC). Participants Pediatricians, FPs, and internal medicine specialists who were licensed to practise in BC. Main outcome measures Knowledge of signs and symptoms of LD, beliefs about risk of LD, attitudes toward LD in patients in their practices, and application of accepted practice guidelines for the treatment of LD in clinical scenarios. Results Overall, 80.6% of respondents were FPs. Average knowledge score was 72.5% for FPs and 75.0% for other specialists. Most respondents (75.6% of FPs and 71.8% of other specialists) underestimated the occurrence of erythema migrans (EM), and only 26.1% and 28.3%, respectively, knew that EM alone was diagnostic for LD. A total of 30.5% of FPs and 12.1% of other specialists reported having treated a patient for the disease despite not believing that the patient had LD. Of all the respondents, 62.1% knew that LD was a reportable disease in BC. Respondents’ reports of risk of LD in their areas were appropriately associated with actual risk based on ecological niche. Conclusion Physicians are knowledgeable about the clinical signs and symptoms of LD and aware of the risk of the disease despite being in a low-endemic area. Physicians in BC are comfortable with treating patients empirically for LD. Education is needed to inform physicians that EM is diagnostic and no laboratory testing is indicated before treatment. Raising awareness among physicians that LD is reportable might improve reporting of future cases.

Henry, Bonnie; Crabtree, Alexis; Roth, David; Blackman, Doug; Morshed, Muhammad

2012-01-01

414

Autoimmune Diseases  

Microsoft Academic Search

Several autoimmune diseases are particularly important to oral health and nutrition because of their direct impact on the\\u000a oral mucosa, masticatory apparatus, salivary glands, teeth and supporting structures, oral pain, or mechanical ability to\\u000a chew. For some disorders, the earliest signs of systemic illness are found in the oral cavity, and these remain as significant\\u000a manifestations of the primary immune

David A. Sirois; Riva Touger-Decker

415

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

416

Cardiovascular Disease  

PubMed Central

Health Issue Cardiovascular disease (CVD) is the leading cause of death in Canadian women and men. In general, women present with a wider range of symptoms, are more likely to delay seeking medial care and are less likely to be investigated and treated with evidence-based medications, angioplasty or coronary artery bypass graft than men. Key Findings In 1998, 78,964 Canadians died from CVD, almost half (39,197) were women. Acute myocardial infarction, which increases significantly after menopause, was the leading cause of death among women. Cardiovascular disease accounted for 21% of all hospital admissions for Canadian women over age 50 in 1999. Admissions to hospital for ischemic heart disease were more frequent for men, but the mean length of hospital stay was longer for women. Mean blood pressure increases with age in both men and women. After age 65, however, high blood pressure is more common among Canadian women. More than one-third of postmenopausal Canadian women have hypertension. Diabetes increases the mortality and morbidity associated with CVD in women more than it does in men. Depression also contributes to the incidence and recovery from CVD, particularly for women who experience twice the rate of depression as men. Data Gaps and Recommendations CVD needs to be recognized as a woman's health issue given Canadian mortality projections (particularly heart failure). Health professionals should be trained to screen, track, and address CVD risk factors among women, including hypertension, elevated lipid levels, smoking, physical inactivity, depression, diabetes and low socio-economic status.

Grace, Sherry L; Fry, Rick; Cheung, Angela; Stewart, Donna E

2004-01-01

417

Beryllium disease  

SciTech Connect

After two workers at the nuclear weapons plant at Oak Ridge National Laboratory in Tennessee were diagnosed earlier this year with chronic beryllium disease (CBD), a rare and sometimes fatal scarring of the lungs, the Department of Energy ordered up a 4-year probe. Now, part of that probe has begun - tests conducted by the Oak Ridge Associated Universities' Center for Epidemiological Research measuring beryllium sensitivity in 3,000 people who've been exposed to the metal's dust since Manhattan Project managers opened the Y-12 plant at Oak Ridge in 1943. Currently, 119 Y-12 employees process beryllium, which has a number of industrial uses, including rocket heat shields and nuclear weapon and electrical components. The disease often takes 20 to 25 years to develop, and the stricken employees haven't worked with beryllium for years. There is no cure for CBD, estimated to strike 2% of people exposed to the metal. Anti-inflammatory steroids alleviate such symptoms as a dry cough, weight loss, and fatigue. Like other lung-fibrosis diseases that are linked to lung cancer, some people suspect CBD might cause some lung cancer. While difficult to diagnose, about 900 cases of CBD have been reported since a Beryllium Case Registry was established in 1952. The Department of Energy (DOE) estimates that about 10,000 DOE employees and 800,000 people in private industry have worked with beryllium.

Not Available

1991-12-20

418

Whipple's disease.  

PubMed

Whipple's disease is a chronic, systemic infection caused by Tropheryma whipplei. Gene amplification, isolation and DNA sequencing of T whipplei have extended our knowledge of this pathogen, which is now recognised as a ubiquitous commensal bacterium. The spectrum of signs associated with T whipplei has now been extended beyond the classic form, which affects middle-aged men, and begins with recurrent arthritis followed several years later by digestive problems associated with other diverse clinical signs. Children may present an acute primary infection, but only a small number of people with a genetic predisposition subsequently develop authentic Whipple's disease. This bacterium may also cause localised chronic infections with no intestinal symptoms: endocarditis, central nervous system involvement, arthritis, uveitis and spondylodiscitis. An impaired TH1 immune response is seen. T whipplei replication in vitro is dependent on interleukin 16 and is accompanied by the apoptosis of host cells, facilitating dissemination of the bacterium. In patients with arthritis, PCR with samples of joint fluid, saliva and stools has become the preferred examination for diagnosis. Immunohistochemical staining is also widely used for diagnosis. Treatment is based on recent microbiological data, but an immune reconstitution syndrome and recurrence remain possible. The future development of serological tests for diagnosis and the generalisation of antigen detection by immunohistochemistry should make it possible to obtain a diagnosis earlier and thus to decrease the morbidity, and perhaps also the mortality, associated with this curable disease which may, nonetheless, be fatal if diagnosed late or in an extensive systemic form. PMID:23291386

Puéchal, Xavier

2013-01-03

419

Lyme Disease Transmission  

MedlinePLUS

... Health Officials Veterinarians Tool kit Lyme disease quiz Lyme disease transmission The Lyme disease bacterium, Borrelia burgdorferi , is ... blacklegged ticks Are there other ways to get Lyme disease? There is no evidence that Lyme disease is ...

420

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

2013-05-01

421

Behçet's disease complicated by multiple aseptic abscesses of the liver and spleen.  

PubMed

Aseptic abscesses are an emergent entity and have been described in inflammatory bowel disease, especially in Crohn's disease, and in other diseases. However, aseptic abscesses associated with Behçet's disease are extremely rare. We report a Japanese male diagnosed with an incomplete type of Behçet's disease who developed multiple aseptic abscesses of the spleen and liver. In 2002, the spleen abscesses were accompanied by paroxysmal oral aphthous ulcers and erythema nodosum. As the patient's response to antibiotic treatment was inadequate, a splenectomy was performed. Severe inflammatory cell infiltration, largely of polymorphonuclear neutrophils, was observed without evidence of bacterial or fungal growth. Although the patient had no history of ocular symptoms or genital ulcers, a diagnosis of incomplete Behçet's disease was made according to the Japanese diagnostic criteria because of the presence of paroxysmal arthritis and epididymitis since 2002. In 2005, multiple liver abscesses developed with right hypochondrial pain and seemed to be attributed to Behçet's disease because the abscesses yielded negative results during a microbiologic investigation and failed to go into remission under antibiotic therapy. Oral prednisone (15 mg/d) was started in May 2006, and the abscesses dramatically disappeared 4 wk after treatment. Although the patient had a relapse of the liver abscesses in association with the tapering of prednisone, the augmentation of prednisone dosage yielded a response. The abscesses of the liver and spleen were strongly suggested to be attributed to Behçet's disease. Clinician should be aware of the existence of aseptic abscesses as uncommon manifestations of Behçet's disease. PMID:23717000

Maeshima, Keisuke; Ishii, Koji; Inoue, Megumi; Himeno, Katsuro; Seike, Masataka

2013-05-28

422

Epidemiology of inflammatory bowel diseases in childhood.  

PubMed

Inflammatory Bowel Disease (IBD) is common in most industrialised countries and childhood IBD accounts for nearly 30% of total cases. Various studies, mostly from Europe and USA have reported epidemiological characteristics of childhood IBD. The incidence figures vary greatly from region to region and within a region over time. Almost all reported studies have documented an increase in the incidence, mainly of Crohn's disease over the last few decades. The reasons for the increase are not clear but epidemiological observations have led to many postulates. Incidence in developing countries is perceived to be low, but limited data suggest that it may not be as uncommon as previously thought. IBD can occur at any age but is rare in infancy. Among childhood IBD, early onset IBD appears to be different epidemiologically and is characterised by predominance of colonic involvement and high positive family history. It has become apparent that only about 25% of childhood Crohn's disease presents with classical triad of abdominal pain, diarrhoea and weight loss. Pediatricians should be aware of atypical manifestations and should maintain high index of suspicion. Though epidemiological studies of childhood IBD done so far have contributed towards understanding of IBD, they have differed in study design, population, time period, age group and case definitions. Unfortunately there are no uniform, clear diagnostic criteria which are evidence based. To address this problem, recently the IBD working group of European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) has published "The Porto Criteria" which details a consensus based diagnostic criteria for the diagnosis of childhood IBD. This should bring uniformity in ascertainment of newly diagnosed IBD cases. An European multicentre prospective database has also been established to facilitate future epidemiological studies. PMID:16936368

Ravikumara, M; Sandhu, B K

2006-08-01

423

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

424

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

425

[Perianal disease in Crohn disease].  

PubMed

The treatment of perianal disease by Morbus Crohn belongs to a general conceptional therapy of this disease and requires close cooperation between gastro-enterologist and surgeon. Primary role in the treatment belongs to the internist, surgeon intervenes only in case of complications or during failure of the conservative treatment. Simple, asymptomatic fistulas are treated conservatively. The fistulas with trouble requires local surgical treatment. In case complicated, multiplied of the fistulas is indicated curative resection of the bowel, if it is indicated from another reasons, in dependence on classical criterions. Temporary derivative colostomy is applied in case, where curative resection is not indicated or if the rectum is not affected or if curative resection and local surgical treatment were ineffective. Proctectomy is applied only during massive affection of rectum and destruction of spincters. Our work confirms that the mentioned surgical methods in treatment of perianal disorder accompanying Morbus Crohn are still valid and the improvement of results in treatment this disease could be expected rather on the field of farmacotherapy. PMID:7992020

Klofanda, J

1993-01-01

426

Ultrasound in patients affected with Peyronie's disease.  

PubMed

Peyronie's disease (PD, induratio penis plastica) is uncommon. Its etiology is unknown and the incidence is stated to be 1%, although more recent data suggest that it is higher. The symptoms are penile deviation and painful erection in association with penile plaques. The diagnosis is performed by palpation of the penis. X-ray diagnostics are only used to visualize the calcified plaques in soft tissue imaging, and the survey of plaque size and consistence is done by sonography with high reproduction. This enables the exact evaluation of treatment effects. By application of high frequency scanners (7-12 MHz) the extent and depth of the plaques can be estimated non-invasively in high resolution images. Furthermore, color coded duplex sonography and recording of Doppler spectra are used to assess hemo-perfusion in the penile vessels and the analysis of erectile dysfunction, often seen in combination with PD. Sonographic diagnosis appears as a valuable supplement and requirement for a successful therapy of PD. PMID:15672280

Fornara, P; Gerbershagen, H-P

2004-07-28

427

[Behçet's disease].  

PubMed

Behçet's disease is a systemic vascularitis appearing primarily by an oral and/or genital aphtose and an uveitis, the unit constituting the tripod of call of the diagnosis having led to its initial description. But its clinical demonstrations are protean with other quasi-specific cutaneous signs and a whole panel of organic attacks, the complicated syndromic forms being the entero-, the angio- and the neuro-Behçet. Its diagnosis is sometimes difficult in the absence of clinical or biological specific signs, in particular when the tripod diagnosis is incomplete. The prognosis of this disease remains heavy, in particular on the ophthalmologic functional level, because of the absence of specific curative treatment, its etiology remaining ignored to date. However, ongoing therapeutic progress are observed for severe and refractory forms to conventional immunosuppressive drugs with the advent of anti-TNFalpha drugs of which the precise place in the therapeutic arsenal, still badly codified, and the long-term effectiveness remain to be specified. PMID:18524110

Aouba, Achille

2008-03-15

428

A rare presentation of mammary Paget's disease involving the entire breast in the absence of any underlying ductal malignancy.  

PubMed

Paget's disease of the breast is an uncommon form of breast cancer presenting as an eczematous eruption over the nipple and/or areola. The diagnosis remains elusive with varied presentations, mimicking many benign skin diseases, the awareness of which is indispensable for diagnosis and minimizing morbidity. Most of the cases have an associated malignancy of the underlying breast tissue. There have been very few reports wherein the disease has occurred independent of any underlying malignancy. Since, the initial presentation is limited to skin; it is the dermatologist who plays a key role in making a diagnosis, thus, facilitating proper management. We report a rare presentation of mammary Paget's disease with a wide cutaneous spread probably attributed to a significantly delayed diagnosis without any associated underlying malignancy. PMID:23760322

Bansal, Shuchi; Sahoo, Bijaylaxmi; Agarwal, Pooja; Garg, Vijay K; Rao, Seema

429

Sexual Response in Cardiovascular Disease  

Microsoft Academic Search

The cardiovascular response to sexual activity in men and women is similar to other daily activities and not excessive between couples in a long-standing relationship. The risk of an ischemic event during sexual activity is low and death very uncommon. Sexual dysfunction is common in cardiac patients and, in men, may occur before cardiac symptoms, with a time interval of

Graham Jackson

2009-01-01

430

Monosomy 21 in hematologic diseases  

Microsoft Academic Search

Monosomy 21 mosaicism as a sole cytogenetic abnormality is very uncommon, with 47 cases described in the literature. We identified five cases of low-level monosomy 21 mosaicism since 1998, none of which were confirmed by fluorescence in situ hybridization (FISH) analysis or follow-up cytogenetic studies. These five cases, and many of the previously reported cases, probably represent the random appearance

Daniel L. Van Dyke; Anne Wiktor

2003-01-01

431

Kidney Disease and Diabetes  

MedlinePLUS

... Introduction Cardiovascular Disease & Diabetes Peripheral Artery Disease & Diabetes Kidney Disease & Diabetes Cholesterol Abnormalities & Diabetes • Understand Your Risk for Diabetes • Symptoms, Diagnosis & ...

432

Recent insights into the genetics of inflammatory bowel disease.  

PubMed

Inflammatory bowel diseases (IBDs) are complex, multifactorial disorders that comprise Crohn's disease (CD) and ulcerative colitis (UC). Genome-wide association studies have identified approximately 100 loci that are significantly associated with IBD. These loci implicate a diverse array of genes and pathophysiologic mechanisms, including microbe recognition, lymphocyte activation, cytokine signaling, and intestinal epithelial defense. Consistent with epidemiologic predictions, many IBD-associated loci demonstrate genome-wide significant associations to both CD and UC, notably, genes whose products function in the interleukin-23 pathway, and transcription factors, including NK2 transcription factor related, locus 3 (NKX2-3), SMAD3, STAT3, ZMIZ1, and c-REL. Although CD and UC are both associated with genomic regions that implicate products of genes involved in leukocyte trafficking, there is evidence for association patterns that are distinct between CD and UC. CD-predominant associations include NOD2 and genes that regulate autophagy. In UC, the predominant association signal is on chromosome 6p21, in the major histocompatibility complex region, near HLA class II genes. UC-predominant loci have also implicated genes mediating epithelial defense function. There is a striking overlap of loci between diseases, which could provide comparative insight into mechanisms of disease pathogenesis. Genes that encode factors that function in the interleukin-23 pathway have been associated with a number of chronic inflammatory diseases, notably psoriasis and ankylosing spondylitis. Distinct genetic associations indicate that the colitis associated with primary sclerosing cholangitis is pathophysiologically distinct from UC that is not associated with primary sclerosing cholangitis. As many as 14 susceptibility loci are shared between IBD and celiac disease, indicating significant overlap in pathophysiology. Future genetic studies will be directed toward identifying uncommon variations with potentially greater statistical effects, defining population differences, and more completely accounting for familial transmission of disease. PMID:21530736

Cho, Judy H; Brant, Steven R

2011-05-01

433

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. ...

434

Disease Activity Measures in Paediatric Rheumatic Diseases  

PubMed Central

Disease activity refers to potentially reversible aspects of a disease. Measurement of disease activity in paediatric rheumatic diseases is a critical component of patient care and clinical research. Disease activity measures are developed systematically, often involving consensus methods. To be useful, a disease activity measure must be feasible, valid, and interpretable. There are several challenges in quantifying disease activity in paediatric rheumatology; namely, the conditions are multidimensional, the level of activity must be valuated in the context of treatment being received, there is no gold standard for disease activity, and it is often difficult to incorporate the patient's perspective of their disease activity. To date, core sets of response variables are defined for juvenile idiopathic arthritis, juvenile systemic lupus erythematosus, and juvenile dermatomyositis, as well as definitions for improvement in response to therapy. Several specific absolute disease activity measures also exist for each condition. Further work is required to determine the optimal disease activity measures in paediatric rheumatology.

Luca, Nadia J.; Feldman, Brian M.

2013-01-01

435

Machado-Joseph Disease  

MedlinePLUS

NINDS Machado-Joseph Disease Information Page Condensed from Machado-Joseph Disease Fact Sheet Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Machado-Joseph Disease? Machado-Joseph disease (MJD), which is ...

436

Testing for Kidney Disease  

MedlinePLUS

... and Kidney Disease Additional Kidney Information Testing for Kidney Disease Early kidney disease usually does not have signs ( ... how often you should be tested. Testing for Kidney Disease Overview Understanding GFR Understanding Urine Albumin Videos Testing ...

437

Diseases and Conditions  

MedlinePLUS

... Diseases & Conditions Health & Wellness Studies & Data Patient Treatment Employee Health About Us Site Search Diseases & Conditions Home ... Diseases & Conditions Health & Wellness Studies & Data Patient Treatment Employee Health About You are here: Home » Diseases & Conditions ...

438

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 ...

439

Diseases from Wildlife  

MedlinePLUS

... Histoplasma Infection (histoplasmosis) : A fungal disease associated with bat guano (stool). Lymphocytic Choriomeningitis : A viral disease associated ... disease associated with wildlife especially raccoons, skunks, and bats. Tularemia : An infectious disease associated with wildlife especially ...

440

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 ...

441

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 ...

442

Kidney and Urologic Diseases  

MedlinePLUS

... Urea Nitrogen ) C Calcitriol (See Chronic Kidney Disease-Mineral and Bone Disorder ) Cardiovascular Disease and CKD (for ... Nutrition (for health care professionals) Chronic Kidney Disease-Mineral and Bone Disorder Chronic Kidney Disease: What Does ...

443

Office of Rare Diseases  

MedlinePLUS

... the Undiagnosed Contact GARD Feedback for GARD More Search for Genetic & Rare Diseases Search Go Browse Diseases ... Archive Conferences Rare Disease Day Staff Contact More Search for Conferences on Rare Diseases Search Go Advanced ...

444

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

445

What Is Celiac Disease?  

MedlinePLUS

What is Celiac Disease? (Pronounced: SEE-lee-ack disease) Celiac disease (CD), also known as celiac sprue or gluten-sensitive enteropathy, is ... a variety of other related complications become apparent. Celiac Disease is: an inherited disease. Celiac disease effects those ...

446

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

2011-01-04

447

Parathyroid Disease  

Microsoft Academic Search

\\u000a \\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Cutaneous manifestations in parathyroid-related diseases are rare in sporadic cases but not unusual in familial syndromes.\\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Familial isolated hyperparathyroidism is usually not accompanied by diagnostic skin manifestations.\\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Diagnostic cutaneous signs are found in MEN type 1 (angiofibromas and collagenomas) and MEN type 2 (cutaneous amyloidosis).\\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Metastatic calcification is commonly encountered in patients with hyperparathyroidism secondary to

Yann Charli-Joseph; Marcela Saeb-Lima

448

Dermoscopic patterns of common facial inflammatory skin diseases.  

PubMed

BACKGROUND: Several common inflammatory dermatoses, such as rosacea, seborrheic dermatitis (SD), discoid lupus erythematosus (DLE) and granulomatous skin diseases manifest as erythematous macules or plaques on the facial skin. Although clinical examination represents the cornerstone of diagnosis, the broad variety of clinical features and uncommon presentations of these diseases may cause at times diagnostic and therapeutic uncertainty. Dermoscopy, in addition to its well-documented value in evaluation of skin tumours, is continuously gaining appreciation also in the field of general dermatology. OBJECTIVE: To describe and compare the dermoscopic patterns of common facial inflammatory skin diseases including SD, erythematotelangiectatic rosacea (ER), sarcoidosis, lupus vulgaris (LV), DLE and granuloma faciale (GF). METHODS: Dermoscopic images of lesions from patients with histopathologically confirmed diagnosis of SD, ER, sarcoidosis, LV, DLE or GF were retrospectively evaluated for the presence of several criteria. Selection of the dermoscopic variables included in the evaluation process was based on the data available in the literature and on our preliminary observations. RESULTS: One hundred and fifteen dermoscopic images were included in the study. SD was dermoscopically characterized by dotted vessels and yellow scales, whereas ER was typified by a characteristic pattern of vascular polygons. Sarcoidosis and LV very commonly exhibited orange-yellowish areas and linear branching vessels. Features related to follicle abnormalities and linear branching vessels were the most common dermoscopic criteria of DLE and GF. CONCLUSIONS: This study provides new insights into the dermoscopic variability in common facial inflammatory dermatoses. PMID:23489377

Lallas, A; Argenziano, G; Apalla, Z; Gourhant, J Y; Zaballos, P; Di Lernia, V; Moscarella, E; Longo, C; Zalaudek, I

2013-03-12

449

Fixed prosthodontic rehabilitation in a wear patient with Fabry's disease.  

PubMed

Fabry's disease is an uncommon X-linked metabolic disorder that leads to abnormal accumulation of glycosphingolipids in the body resulting in a variety of systemic disorders. Few reports have addressed dental findings and management of these patients. This clinical report describes the fixed prosthodontic rehabilitation of an adult male patient with Fabry's disease, who presented with generalized severe wear of the dentition. In addition to numerous systemic morbidities, the patient also presented with intraoral angiokeratomas, telangiactasias, anterior diastemata, bimaxillary prognathism, and other oral findings known to be prominent in these patients. The patient was managed by an interdisciplinary team of dental specialists in close coordination with his nephrologist. The prosthodontic treatment included restorations on all teeth, except mandibular anterior teeth, and the patient was restored with a partial group function scheme of occlusion. At the 3.5-year follow-up appointment, the patient's oral health and integrity of the restorations remained stable. This is the first clinical report describing the prosthodontic management of a patient with Fabry's disease. Unique features related to this patient's fixed prosthodontic treatment include accommodation to complex medical problems, management of maxillary diastemata, and choice of occlusal scheme. PMID:22003877

Bidra, Avinash S

2011-10-01

450

Histological patterns in drug-induced liver disease.  

PubMed

The diagnosis of drug-induced liver injury (DILI) is a challenging problem, often confounded by incomplete clinical information and the difficulty of eliciting exposure to herbal products, over-the-counter agents and toxins. The task is further rendered difficult on biopsy, as drugs can mimic all the patterns found in primary liver disease. Acute hepatitis, with or without cholestasis, is the most common histological pattern of DILI, and drugs such as acetaminophen are the leading causes of acute liver failure. Most cases of DILI resolve on discontinuation of the drug, but recovery can take months or rarely the disease can progress despite drug withdrawal. Drugs such as methotrexate can lead to chronic hepatitis and cirrhosis, while others such as minocycline, nitrofurantoin and methyldopa are implicated in autoimmune hepatitis. Prolonged cholestasis and ductopenia resembling primary chronic biliary disease can occur. Drug-induced steatohepatitis is also an uncommon pattern, but is well described with drugs such as amiodarone and irinotecan. In the presence of risk factors such as obesity and diabetes, some drugs such as tamoxifen, oestrogens and nifedipine can precipitate or exacerbate steatohepatitis. Other observed patterns include granulomatous hepatitis, vascular injury (eg, sinusoidal obstruction syndrome), Ito cell lipidosis and neoplasms (eg, adenomas). PMID:19474352

Ramachandran, R; Kakar, S

2009-06-01

451

Corneal clouding: An infrequent ophthalmic manifestation of mitochondrial disease.  

PubMed

Corneal clouding is uncommon in infants and children but when present in this age group, it is often associated with mucopolysaccharidoses or Fabry disease. This report describes the case of an 11-year-old male who demonstrated poor weight gain, short stature, segmental myoclonus, and learning problems from 5 years of age followed by general weakness and extremely poor balance. Corneal clouding was evident as a result of a blurred vision complaint at 9 years of age. Both urine metabolic screening for mucopolysaccharidoses and analysis of lysosomal enzymes displayed negative findings. Clinical conditions worsened, including ptosis, progressive weakness, and positive Gowers' sign. Oral glucose lactate stimulation test was positive, therefore a muscle biopsy was performed at 11 years of age. Light microscopy of muscle biopsy disclosed abundant ragged red fibers; electron microscopy revealed abnormal mitochondria in terms of tubular cristae, concentrated cristae, stacking cristae, and round granular patterns of inclusion bodies in the matrix. Thus mitochondrial disease was diagnosed. We conclude that mitochondrial disease should be added to the list of differential diagnosis of corneal clouding in children, especially in cases with normal urine metabolic screening for mucopolysaccharidoses or when assays of lysosomal enzymes appear normal. PMID:16765825

Lee, Hsiu-Fen; Lee, Huei-Jane; Chi, Ching-Shiang; Tsai, Chi-Ren; Chang, Patricia

2006-06-01

452

[Association of post-transplant lymphoproliferative disease and visceral leishmaniasis after kidney transplantation].  

PubMed

Malignancies and opportunistic infections are frequently observed after solid-organ transplantation. Their occurrence strongly affects recipient survival. We report the case of a 29-year-old Tunisian kidney-recipient who was diagnosed simultaneously with post-transplant lymphoproliferative disease (PTLD) and visceral leishmaniasis (VL). Withdrawal of immunosuppressive therapy together with antiparasitic treatment using liposomal amphotericin B, and anti-CD20 antibodies medication resulted in cure of leishmaniasis and remission from PTLD. This case is of clinical interest because of the uncommon association of VL with PTLD after solid organ transplantation. It is also original by the favourable outcome of VL and PTLD, both known as life-threatening diseases. Also, it illustrates the predisposing role of immunosuppressive therapy in occurrence of opportunistic infections and malignancies after solid organ transplantation. PMID:21376690

Bacha, Mohamed Mongi; Abderrahim, Ezzeddine; Ounissi, Mondher; Chaouech, Dalel; Cherif, Mejda; Turki, Sami; Rajhi, Hatem; Znaidi, Nadia; Bahloul, Abdessalem; Trabelsi, Sonia; Khaled, Samira; Ben Abdallah, Taïeb; Ben Maïz, Hedi; Kheder, Adel

2011-03-03

453

Rice body formation without rheumatic disease or tuberculosis infection: a case report and literature review.  

PubMed

Rice body formation is an uncommon inflammatory disorder associated with systemic disorders such as rheumatoid arthritis and tuberculosis infection. The pathophysiology of rice bodies is poorly understood. We describe a case of rice body formation in a 51-year-old male who presented with pain and swelling of the left wrist. The patient had no previous history of rheumatic disease, joint trauma, or infectious disease. He underwent a radical tenosynovectomy and had immediate improvement of symptoms. Despite extensive evaluation, the etiology of the rice bodies could not be identified. An increasing number of case reports have described rice body formation without a known cause suggesting an alternative, unidentified method of pathogenesis. We describe a unique case of rice body formation and a review of the literature with emphasis on theories of pathogenesis, diagnostic methods, and treatment. PMID:22941257

Forse, Catherine L; Mucha, Bernardo L; Santos, M Lauren Zabala; Ongcapin, Emelie H

2012-09-02

454

Acantholytic Anaplastic Extramammary Paget's Disease: A Case Report and Review of the Literature  

PubMed Central

Extramammary Paget's disease (EMPD) is an uncommon intraepithelial neoplasm that most commonly arises on the vulva and perianal region. Very few cases of EMPD revealing a histological Bowenoid appearance have been reported. This study describes scrotal EMPD presenting with histological features of Bowen's disease in a 79-year-old man. He presented with a 5-year history of a pruritic erythematous plaque and a verrucous papule on the scrotum. The verrucous papule histopathologically showed Bowenoid features, and the erythematous plaque demonstrated acantholytic EMPD. Immunohistochemical findings revealed strong expression for carcinoembryonic antigen, Cam 5.2, epithelial membrane antigen, cytokeratin (CK) 7, and pancytokeratin (AE1/AE3) in both areas, but negative CK20 staining, supporting the overall diagnosis of primary acantholytic anaplastic EMPD. This is the first reported case of acantholytic anaplastic EMPD in the Korean literature.

Oh, Yu-Jin; Sim, Woo-Young

2011-01-01

455

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.

2012-01-01

456

Hemoptysis in patients of celiac disease with disproportionately severe anemia: tip of the iceberg?  

PubMed Central

Idiopathic Pulmonary Hemosiderosis (IPH) is characterized by the triad of iron deficiency anemia, pulmonary infiltrates and haemoptysis with no recognizable cause. Since the first description of its association with Celiac Disease (CD) by Lane and Hamilton in 1971, only a few isolated cases have been reported in literature. Although it has been considered an uncommon association of two disease entities, recent reports indicate that prevalence of celiac disease is as high as one percent. Further, individually both celiac disease and IPH are known to present as refractory anemia only. We are reporting a young adult with Lane Hamilton Syndrome, who realized that he was having significant gastrointestinal complaints only when they disappeared on gluten free diet (GFD). This case report reiterates the fact that celiac disease should be considered in all patients of IPH because of the therapeutic implications. Further on review of literature, we believe that covert hemoptysis may be responsible for disproportionately severe anemia in patients of celiac disease. Thus, prevalence of this association may be more than currently believed. Further research in this regard may improve our understanding of pathogenesis of celiac disease.

2013-01-01

457

Multiple hydatid cysts of the neck, the nasopharynx and the skull base revealing cervical vertebral hydatid disease.  

PubMed

Hydatid disease is caused by the parasitic tapeworm Echinococcus. This parasite in larval stage can thrive in many parts of the body, most commonly in the liver and the lung. Hydatid disease in the head and neck is uncommon and hydatid cyst presents rarely as a cervical mass. Cervical vertebral echinococcosis is rare. We report a 14-year-old girl with multiple cervical spine hydatid cysts of the C1-C2 vertebrae that spread into the surrounding paravertebral tissues and involve the nasopharynx and the skull base particularly the left jugular foramen. This process has caused a progressive swelling in the left side of the neck located in the retrostyloid compartment of the parapharyngeal space with paralysis of cranial nerves (VI, IX, X, XI, XII). The diagnosis was made based on the image obtained from CT and MRI examinations. Characteristics of this rare disease, diagnosis and treatment difficulty are discussed. PMID:12745160

El Kohen, Asma; Benjelloun, Abdelaziz; El Quessar, Abdeljalil; Derraz, Said; Lazrak, Abdenasser; Jazouli, Nezha; Kzadri, Mohamed

2003-06-01

458

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...

459

Strategies for disease modification in Alzheimer's disease  

Microsoft Academic Search

Treating Alzheimer's disease (AD) is the biggest unmet medical need in neurology. Current drugs improve symptoms, but do not have profound disease-modifying effects. Three main classes of disease-modification approaches can be defined: one that is broadly neurotrophic or neuroprotective, one that targets specific aspects of AD pathology, and one that is based on epidemiological observation. This review discusses all three

Martin Citron

2004-01-01

460

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.

Sato, Atsushi

2012-01-01

461

Refractory Uveitis in Patient with Castleman Disease Successfully Treated with Tocilizumab  

PubMed Central

Although multicentric Castleman disease is a rare but life-threatening disease, eye complications are extremely uncommon. We present a case of refractory uveitis accompanied with Castleman disease successfully treated with tocilizumab. A 58-year-old man with Castleman disease was introduced for refractory uveitis to Chiba University Hospital. Large cells were detected in the anterior chamber and increased vascular permeability of retinal vessels has been found in both eyes. Although the patient was treated with oral and eye drop steroid treatment, the uveitis symptoms had not decreased. The serum levels of CRP and IL-6 were increased. The level of IL-6 concentration in the anterior chamber was the same as the serum level of IL-6. The humanized anti-IL-6 receptor-antibody (tocilizumab) was administrated for the patient because of poor general condition. After tocilizumab treatment, large cells in the anterior chamber were undetectable and vascular permeability was improved in FA. The serum levels of CRP and IL-6 decreased and the general condition improved. The side effect of tocilizumab was not observed during the treatment. Tocilizumab treatment was significantly effective for uveitis accompanied with Castleman disease. Although it is extremely rare, uveitis accompanied with Castleman disease may be one of the hallmarks to consider tocilizumab treatment.

Oshitari, Toshiyuki; Kajita, Fusae; Tobe, Aya; Itami, Makiko; Yotsukura, Jiro; Baba, Takayuki; Yamamoto, Shuichi

2012-01-01

462

Machado-Joseph Disease  

MedlinePLUS

Machado-Joseph Disease Fact Sheet See a list of all NINDS Disorders Get Web page suited for ... Where can I get more information? What is Machado-Joseph Disease? Machado-Joseph disease (MJD)—also called ...

463

Sexually Transmitted Diseases  

MedlinePLUS

... of this website will be limited. Search Help? Sexually Transmitted Diseases Share this page: Was this page helpful? Overview | Related Pages Also known as: STDs; Sexually transmitted infections; STIs; Venereal diseases What are sexually transmitted diseases? ...

464

Pneumococcal Disease Fast Facts  

MedlinePLUS

... Centers for Disease Control and Prevention. 2013. Active Bacterial Core Surveillance Report, Emerging Infections Program Network, Streptococcus ... Center for Immunization and Respiratory Diseases , Division of Bacterial Diseases Home A-Z Index Site Map Policies ...

465

Sickle Cell Disease Quiz  

MedlinePLUS

... Sickle Cell Disease is one of the most common genetic diseases in the United States. Sickle cell disease affects about 70,000 to 100,000 Americans. Test Your Knowledge... 1. True or False: Only African Americans get ...

466

Neuromuscular Disease Descriptions  

MedlinePLUS

... problems. Peripheral motor neuron diseases (involving muscle-controlling nerve cells of the arms, legs, neck, face) Charcot-Marie- ... diabetes and heart disease. Motor neuron diseases (involving nerve cells in the spinal cord) Infantile progressive spinal muscular ...

467

Coronary Microvascular Disease (MVD)  

MedlinePLUS

... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Heart Disease in Women Atherosclerosis Coronary Heart Disease Coronary Heart Disease Risk Factors ...

468

Celiac Disease Tests  

MedlinePLUS

... of this website will be limited. Search Help? Celiac Disease Tests Share this page: Was this page helpful? ... celiac disease? 1. What is the difference between celiac disease and an allergy to wheat and other grains? ...

469

Celiac disease - sprue  

MedlinePLUS

Celiac disease is a condition that damages the lining of the small intestine and prevents it from absorbing ... The exact cause of celiac disease is unknown. The lining of the ... which help absorb nutrients. When people with celiac disease ...

470

Diabetes and Celiac Disease  

MedlinePLUS

... done by a simple blood test. What is celiac disease? - A malabsorption disease caused by eating gluten - a ... 100 people in the United States. Diabetes and celiac disease: The link - There is a genetic link between ...

471

Pediatric Celiac Disease  

MedlinePLUS

... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, and ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming gluten ...

472

Associated Autoimmune Diseases  

MedlinePLUS

... follow up with the doctor? With the dietitian? Celiac Disease and Associated Autoimmune Diseases: The Connection People who ... is available at www.GLUTEN. net. Advances in celiac disease are fast-paced. If this document is more ...

473

Testing for Celiac Disease  

MedlinePLUS

... and Titles : Testing for Celiac Disease Testing for Celiac Disease On this page: Serologic Tests tTG EMA DGP ... M.D., Mayo Clinic, Rochester, MN. [ Top ] The Celiac Disease Awareness Campaign The National Institutes of Health Celiac ...

474

Celiac Disease Awareness Campaign  

MedlinePLUS

... Welcome to the National Institutes of Health (NIH) Celiac Disease Awareness Campaign Celiac disease is an immune reaction to gluten, a protein ... information about the symptoms, diagnosis, and treatment of celiac disease, also known as celiac sprue, nontropical sprue, and ...

475

Leprosy (Hansen's Disease)  

MedlinePLUS

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

476

Coronary heart disease  

MedlinePLUS

... the heart can slow down or stop. A risk factor for heart disease is something that increases your chance of getting it. You cannot change some risk factors for heart disease, but others you can change. See: Heart disease - ...

477

Peripheral Artery Disease  

MedlinePLUS

Peripheral Artery Disease • Overview Peripheral artery disease, or P.A.D., refers to arterial disease that occurs outside of the heart or brain. In P.A.D., the arteries that carry oxygenated blood throughout the body become ...

478

Tay-Sachs disease  

MedlinePLUS

Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. ... Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical ...

479

Chagas Disease: Detailed FAQs  

MedlinePLUS

... have Chagas disease. In what parts of the world is Chagas disease found? People who have Chagas disease can be found anywhere in the world. However, vectorborne transmission is confined to the Americas, ...

480

Parkinson's disease - discharge  

MedlinePLUS

Your doctor has told you that you have Parkinson’s disease . This disease affects the brain and leads to ( ... place you on different medicines to treat your Parkinson’s disease and many of the problems that may come ...

481

Diabetic heart disease  

PubMed Central

Diabetes mellitus is responsible for a spectrum of cardiovascular disease. The best known complications arise from endothelial dysfunction, oxidation, inflammation, and vascular remodelling and contribute to atherogenesis. However, the effects on the heart also relate to concurrent hypertensive heart disease, as well as direct effects of diabetes on the myocardium. Diabetic heart disease, defined as myocardial disease in patients with diabetes that cannot be ascribed to hypertension, coronary artery disease, or other known cardiac disease, is reviewed.

Marwick, T H

2006-01-01

482

Drug-Disease Interactions  

Center for Drug Evaluation (CDER)

... Renal disease. Cardiac disease ( hepatic blood flow). Acute myocardial infarction? Acute viral infection? Hypothyroidism or hyperthyroidism? ... More results from www.fda.gov/drugs/developmentapprovalprocess/developmentresources

483