Note: This page contains sample records for the topic schamberg disease uncommon from Science.gov.
While these samples are representative of the content of Science.gov,
they are not comprehensive nor are they the most current set.
We encourage you to perform a real-time search of Science.gov
to obtain the most current and comprehensive results.
Last update: August 15, 2014.
1

Successful treatment of generalized childhood Schamberg's disease with narrowband ultraviolet B therapy.  

PubMed

Pigmented purpuric dermatoses are a group of dermatoses characterized by petechia and hyperpigmented macules that occur predominantly on the lower extremities. Although it is most commonly seen in adults, this disease can also affect children. Phototherapy has been shown to be effective in some cases in the literature. Here, we present two cases of Schamberg's disease that improved rapidly with narrowband ultraviolet B (UVB) therapy. To our knowledge, they were the first pediatric cases of successful narrowband UVB therapy in this disease. PMID:21729171

Can, Burce; Turkoglu, Zafer; Kavala, Mukaddes; Zindanci, Ilkin; Kural, Esra

2011-08-01

2

Castleman's disease as a uncommon cause of a neck mass.  

PubMed

Castleman's disease is an uncommon cause of a neck mass; in only 6% of the cases reported in the literature was the disease located in the neck. We present the case of a 21-year-old woman who developed a swelling in the left side of her neck that was subsequently diagnosed as Castleman's disease. The different forms of the disease and its histopathology are discussed. PMID:7848650

Kooper, D P; Tiwari, R M; van der Valk, P

1994-01-01

3

Graves' disease as an uncommon cause of acute pericarditis.  

PubMed

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

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

2014-01-01

4

IgG4-related systemic disease: an uncommon presentation for an uncommon disease.  

PubMed

IgG4-related systemic disease is an emerging disease process that manifests with a constellation of features, most commonly but not exclusive to swelling and tuberous growth in the lacrimal and salivary glands, potentially involving many other organ systems. This condition often prompts investigations into malignancy or needless radical surgical procedures. A 58-year-old male was presented to a rheumatologist after several biopsies were done that were suspicious for neoplasia, involving the lacrimal gland and lung. The diagnosis was confirmed when tissue from the lacrimal gland biopsy was reviewed with special stains for IgG4, performed at the Mayo Clinic. This patient is interesting because his disease included bilateral lacrimal glands--at different intervals, the submandibular glands, the lung, and the thyroid gland. His disease responded to immunosuppression. Literature has shown resolution of the tumors upon starting glucocorticoids or rituximab. Our patient was given a course of prednisone and methotrexate with normal follow-up CT chest and physical exam. PMID:23370855

Masri, Karim Richard; Shaver, Timothy

2013-07-01

5

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

PubMed

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

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

2013-01-01

6

Cystic interstitial lung diseases: recognizing the common and uncommon entities.  

PubMed

Cystic lung diseases present a considerable diagnostic challenge because they are less frequently encountered in clinical practice and high-resolution computed tomography findings are often similar in many of these diseases. Here, we review the high-resolution computed tomography findings of cystic lung diseases and their mimics and provide a systematic approach to their diagnosis. Specific diseases that are discussed include pulmonary Langerhans cell histiocytosis, lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, and light chain deposition disease. PMID:24791615

Jawad, Hamza; Walker, Christopher M; Wu, Carol C; Chung, Jonathan H

2014-01-01

7

Is adult celiac disease really uncommon in Chinese?  

Microsoft Academic Search

Celiac disease (CD) is a type of intestinal malabsorption syndrome, in which the patients are intolerant to the gliadin in\\u000a dietary gluten, resulting in chronic diarrhea and secondary malnutrition. The disease is common in Europe and the United States,\\u000a but only sporadic reports are found in East Asia including China. Is CD really rare in China? We examined 62 patients

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

2009-01-01

8

Association of heart block with uncommon disease States.  

PubMed

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

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

2013-09-01

9

Syphilitic hepatitis: an uncommon manifestation of a common disease.  

PubMed

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

Baveja, Sukriti; Garg, Shilpa; Rajdeo, Amol

2014-03-01

10

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

11

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases*  

PubMed Central

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

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

2010-01-01

12

Bartonella henselae Infection: An Uncommon Mimicker of Autoimmune Disease  

PubMed Central

We present a case of a seven-year-old immunocompetent female patient who developed systemic symptoms mimicking an autoimmune rather than an infectious disease. The patient presented with rash, biquotidian fever, night sweats, and arthralgias. There was no antecedent history of cat contact. Investigations showed increased inflammatory markers, leukocytosis, thrombocytosis, hypercalcemia, and raised angiotensin-converting enzyme. Interferon-gamma releasing assay for tuberculosis infection was negative. Abdominal imaging demonstrated multifocal lesions of the liver and spleen (later proved to be granulomata), chest X-ray showed enlarged hilar lymph nodes, and ophthalmology review revealed uveitis. Clinical, laboratory, and imaging features pointed towards sarcoidosis. Subsequently, raised titers (IgM 1 : 32, IgG 1 : 256) against Bartonella confirmed the diagnosis of B. henselae infection. She was treated with gentamycin followed by ciprofloxacin; repeat investigations showed complete resolution of findings. The presence of hepatic and splenic lesions in children with bartonellosis is well documented. Our case, however, exhibited certain unusual findings such as the coexistence of acute ocular and systemic involvement in an immunocompetent host. Serological testing is an inexpensive and effective way to diagnose bartonellosis in immunocompetent patients; we suggest that bartonella serology is included in the baseline tests performed on children with prolonged fever even in the absence of contact with cats in countries where bartonellosis is prevalent.

Maritsi, Despoina N.; Zarganis, Diagoras; Metaxa, Zoi; Papaioannou, Georgia; Vartzelis, George

2013-01-01

13

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

14

Endolymphatic non-langerhans cell histiocytosis of the larynx: report of an uncommon disease manifestation.  

PubMed

We report on an uncommon laryngeal non-Langerhans cell histiocytosis. An 11-year-old boy presented with a 6 months history of progressive breath inhibition. Magnetic resonance imaging showed diffuse laryngeal and local lymph node swelling. Histology first resembled sarcoidosis, however, corticosteroids were ineffective. Lymphoma, infection, immunodeficiency, and autoimmune disease were excluded. Six months later, biopsies were repeated, now showing numerous ectatic lymph vessels with clusters of histiocytes bearing stellate extensions and emperipolesis. S100 protein and CD1a were negative. Indomethacin treatment led to a gradual improvement. In conclusion, we observed a nonmalignant non-Langerhans cell endolymphatic reticulohistiocytosis, not fitting into any of the described categories. PMID:20463609

Classen, Carl Friedrich; Haffner, Dieter; Nizze, Horst; Möller, Peter; Prall, Friedrich

2010-07-01

15

Erdheim-Chester disease: An unusual presentation of an uncommon disease.  

PubMed

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with classic radiographic findings of patchy or diffuse osteosclerosis predominantly involving the long bones in a bilaterally symmetrical pattern. A 49-year-old woman presented with diffuse lymphadenopathy, painful skin lesions, and constitutional symptoms. Recent history was significant for a nontraumatic fracture of the tibia 3 weeks prior to admission. Physical examination and laboratory studies were notable for lower extremity pain and swelling, nodular lesions on the skin, and normocytic, normochromic anemia. Plain radiographs showed a lytic pattern of destruction with a superimposed fracture in the left proximal tibia. MRI showed focal bone marrow replacement extending from the subchondral bone to the tibial diaphysis. Excisional lymph node and skin biopsies of the lesions demonstrated a CD-68 positive, S-100 variable, and CD1a-negative histiocytic cell proliferation filling the dermis and completely replacing the sampled lymph node with an accompanying chronic inflammatory infiltrate and fibrosis, pathognomonic for ECD. We report an unusual case of ECD presenting initially as diffuse, painful lymphadenopathy, and subsequently demonstrating a lytic lesion of the tibia underlying a nontraumatic fracture. PMID:24366632

Bindra, Jasjeet; Lam, Alexander; Lamba, Ramit; Vanness, Michael; Boutin, Robert D

2014-06-01

16

Uncommon Knowledge  

NSDL National Science Digital Library

Hosted by Peter M. Robinson of the Hoover Institution, Uncommon Knowledge has been taking a critical look at public policy issues since 1996. With support from the John M. Olin Foundation, Uncommon Knowledge is distributed by American Public Television and can also be heard on NPR. In keeping with the traditions of the Hoover Institution, the programs feature lively debate on any number of topics, ranging from gun control to international foreign diplomacy. Visitors to the website can browse through a list of recent shows, or look through their archives which date from 1997. Visitors may also wish to view the entire television program on their computer, listen to the audio presentation, or read a transcript.

Robinson, Peter.

2005-01-01

17

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

PubMed Central

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

2012-01-01

18

Uncommon Lives  

NSDL National Science Digital Library

The Uncommon Lives series on the National Archives of Australia website takes an approach to Australian history that not only encompasses the well-known history-makers, but also lesser known people's role in shaping Australian history. One of the stated goals of the Uncommon Lives series is to show how amateur historians and researchers alike can use the archives to find biographical resources. There are five stories the visitor can discover by simply clicking on the image of the person or people next to the brief description of their story including, "Muslim Journeys", "Charles and Ruth Lane Poole", "Jessie Street", "Wolf Klaphake", and "Dhakiyarr Wirrpanda". By clicking on any choice, visitors will find each story divided into subsections. Explanatory text accompanies the thumbnails of each image and these can be expanded into a high quality image by clicking on them. Each of these stories provides a unique and compelling look into Australian history. For instance in Wolf Klaphake's story you can listen to or read the transcript of segments of the ABC radio play "A Doubtful Character" which is about Klaphake's life and in Dhakiyarr Wirrpanda's story, you can view the actual court records of his case, which was the first for an Aboriginal Australian in the High Court.

2007-01-01

19

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

20

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

PubMed

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

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

2014-07-01

21

Current clinical diagnosis in Creutzfeldt-Jakob disease: identification of uncommon variants.  

PubMed

According to the recently established molecular basis for phenotypic heterogeneity of sporadic Creutzfeldt-Jakob disease (CJD), six different phenotypes are characterized by the size of the protease-resistant fragment of the pathological prion protein (types 1 and 2) and homozygosity or heterozygosity for methionine or valine at codon 129 of the prion protein gene (designated by MM1, MM2, MV1, MV2, W1, and W2). In the present investigation, we analyzed the value of commonly used clinical tests (electroencephalogram [EEG], detection of 14-3-3 protein in cerebrospinal fluid [CSF], and hyperintensity of the basal ganglia in magnetic resonance imaging) for the clinical diagnosis in each CJD phenotype. The detection of periodic sharp and slow wave complexes in the EEG is reliable in the clinical diagnosis of MM1 and MV1 patients only. The CSF analysis for 14-3-3 protein showed high sensitivity in all analyzed subgroups with the exception of MV2 patients. Valine-homozygous patients had a negative EEG, but most had detectable levels of neuronal proteins in the CSF. The sensitivity of the magnetic resonance imaging was 70%, irrespective of the subgroup, but was particularly reliable in the clinical diagnosis of MV2 patients. The widening spectrum of diagnostic techniques in CJD is not only useful in the increased accuracy of the clinical diagnosis but should also lead to the identification of more atypical cases of sporadic CJD. PMID:10976638

Zerr, I; Schulz-Schaeffer, W J; Giese, A; Bodemer, M; Schröter, A; Henkel, K; Tschampa, H J; Windl, O; Pfahlberg, A; Steinhoff, B J; Gefeller, O; Kretzschmar, H A; Poser, S

2000-09-01

22

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

PubMed Central

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

Kestler, Andrew; Kestler, Mary; Morchi, Ravi; Lowenstein, Steven; Anderson, Britney

2011-01-01

23

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.  

PubMed

Chronic granulomatous disease is an inherited disease characterized by the inability of phagocytes to generate normal amounts of superoxide, leaving patients susceptible to opportunistic, life-threatening infections. In the majority of cases, cytochrome b558 is absent in the X-chromosomal form of CGD. However, the neutrophils from six of nine X-linked CGD patients, reported here, expressed normal or decreased amounts of this cytochrome and are referred to as "variant" forms. In three of these six variant patients, a roughly proportional decrease in cytochrome b558 expression and production of H2O2 were found. In two cases this phenotype could be well explained by special splice mutations, whereas in the third case it was caused by a missense mutation, predicting Ser 193-->Phe. In the other three variant patients, cytochrome b558 expression and H2O2 production were clearly disproportionate as the generation of H2O2 was much more decreased than cytochrome expression. Missense mutations also were found in these cases. One of these mutations, predicting Leu 546-->Pro and affecting the putative nicotinamide adenine dinucleotide phosphate binding site, led to normal levels of cytochrome b558 expression and reduced H2O2 production. In the other two mutations, predicting Pro 339-->His and His 338-->Tyr, the putative flavin adenine dinucleotide binding site was affected. This could explain the corresponding uncommon phenotypes, characterized by zero or trace amounts of H2O2 production and the expression of relatively high amounts of nonfunctional or low functional cytochrome b558, respectively. The only missense mutation found that prevented the expression of any cytochrome b558 was caused by a predicted His 222-->Arg exchange in one of the three classic cases. The two other classic phenotypes were caused by splice mutations. PMID:10089913

Roesler, J; Heyden, S; Burdelski, M; Schäfer, H; Kreth, H W; Lehmann, R; Paul, D; Marzahn, J; Gahr, M; Rösen-Wolff, A

1999-03-01

24

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

PubMed Central

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

Fisher, Cyril; Thway, Khin

2013-01-01

25

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

26

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients  

Microsoft Academic Search

A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G>A transition (G2019S) accounts for about 3–7% of familial Parkinson's disease (PD) and 1–1.6% sporadic PD in a number of European populations. To determine the prevalence of the G1019S mutation in our Asian population, we conducted genetic analysis of this mutation in 1000 PD and healthy controls. The G2019S mutation was

E. K. Tan; H. Shen; L. C. S. Tan; M. Farrer; K. Yew; E. Chua; R. D. Jamora; K. Puvan; K. Y. Puong; Y. Zhao; R. Pavanni; M. C. Wong; Yuen Yih; L. Skipper; Jian-Jun Liu

2005-01-01

27

[Tungiasis, an uncommon ectoparisitic disease].  

PubMed

Tungiasis is an infestation of the skin due to the sand flea chigger (or Tunga penetrans). After penetration under the nails of the feet, this ectoparasite enlarged and the lesion becomes painful. Diagnosis is made on the past history (travel in tropical areas) and the inspection. Treatment consists of extraction the insect entire, and administration of topical antiseptic lotion. PMID:19317125

Bourée, Patrice; Ossé, Lauranne; Rabenandrasana, Fanambinantsoa

2009-02-20

28

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

29

Tubercular ventriculitis: an uncommon entity.  

PubMed

Although tubercular meningitis is common in children, tubercular ventriculitis is uncommon. The authors report a 3-mo-old infant who had tubercular ventriculitis secondary to disseminated tuberculosis. PMID:23625471

Kumar, Suresh; Kumar, Rakesh; Radotra, B D; Singh, Meenu

2014-06-01

30

Leprosy: uncommon presentations.  

PubMed

The uniqueness of the clinical-dermatologic elements of leprosy recommends that control programs worldwide should diagnose the disease based on the so-called main clinical signs: cutaneous-neurological lesions with sensitivity-motor alterations without obligatory bacteriologic or histopathologic examination. The recognition of initial signs and symptoms of Hansen disease sometimes presents difficulties for its diagnosis, especially considering the relevance of an early diagnosis and the present guidelines for performance of decentralized treatment of the patient in the basic health-care network. The clinical cases illustrating this article were selected because of the degree of difficulty found in the confirmation of their diagnoses that required a histopathologic and/or bacteriologic examination. PMID:16179185

Ramos-E-Silva, Marcia; Oliveira, Maria Leide W; Munhoz-da-Fontoura, Gabriela H

2005-01-01

31

Case studies of uncommon headaches.  

PubMed

The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia. PMID:16684636

Evans, Randolph W

2006-05-01

32

Common and uncommon bilateral adult renal masses  

PubMed Central

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

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

2012-01-01

33

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

34

Diabetic Myonecrosis: Uncommon Complications in Common Diseases  

PubMed Central

We report a case of sudden thigh pain from spontaneous quadriceps necrosis, also known as diabetic myonecrosis, in a 28-year-old patient with poorly controlled diabetes mellitus. Diabetic muscle infarction is a rare end-organ complication seen in patients with poor glycemic control and advanced chronic microvascular complications. Proposed mechanisms involve atherosclerotic microvascular occlusion, ischemia-reperfusion related injury, vasculitis with microthrombi formation, and an acquired antiphospholipid syndrome. Diabetic myonecrosis most commonly presents as sudden thigh pain with swelling and should be considered in any patient who has poorly controlled diabetes mellitus.

Sran, Manpreet; Ferguson, Nicole

2014-01-01

35

A common symptom of an uncommon disease.  

PubMed

Cancer of the colon is the second most common visceral cancer in the United States (lung cancer is the first). It is usually diagnosed in patients older than 40 years, with a peak incidence at 70 years of age. Rarely, are cases seen in the pediatric population. In this study, we report a case of a 13-year-old girl with an 11-month history of intermittent abdominal pain whose diagnosis was delayed due to vague symptoms and a low index of suspicion for this condition. PMID:21552148

Sia, Valerie May; Sia, Dominic C; Yamashiro, Darrell J; Middlesworth, William; Syed, Muhammad; Paudel, Govinda; Kirk, Russell; Kigongo-Mwesezi, Samuel; Rivlin, Kenneth; Leggiadro, Robert J

2011-07-01

36

Uncommon Locations and Presentations of Hydatid Cyst  

PubMed Central

Background: Hydatid disease (HD) is an ancient disease and even was known to Hippocrates. This disease involves all human parts and most common affected organs are liver and lungs. Incidence of unusual site is about 8-10%. The clinical picture depends upon the involved organs, its effects on adjacent structures, complications due to secondary infection, rupture, and anaphylaxis caused by hydatid cysts. Aim: The aim of this study was to find out incidence of unusual location of hydatid cyst in the human body. Materials and Methods: A retrospective study of HD was carried in a medical college between July 2007 and June 2012. A total 79 cases of HD were treated during this period. Information on clinical presentation and management were reviewed, and results presented as summary statistics. Results: Sixty one cases were of liver HD, and 11 were with hydatid lung disease. Fifty cases were with right lobe involvement, and rest 11 were with both lobe involvement. Out of 11 lung hydatid only one case was with bilateral lung involvement. Only eight cases of HD of uncommon locations and presentations were encountered during this period. First case presented with left hypochondriac mass as splenic HD, second with pelvic HD along with obstructive uropathy, third with non-functioning right kidney with bilateral psoas muscles HD, fourth with HD involving mesentery, fifth with pelvic pain due to right ovary HD, sixth with simultaneous involvement of the liver and right subdiaphragmatic region, seventh with HD of right inguinal region, and eighth with hydatid cyst of the left kidney. Even though, there was no mortality found in these patients, there was high morbidity. Conclusion: We conclude that Echinococcus granulosus can affect any organ in the body from head to toe, and a high suspicion of this disease is justified in endemic regions. Moreover, medical treatment should be given in the pre-operative period as well as in the post-operative period for 4-6 weeks.

Sachar, S; Goyal, S; Goyal, S; Sangwan, S

2014-01-01

37

Neonatal cholestasis: an uncommon presentation of hyperargininemia.  

PubMed

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

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

2010-12-01

38

Uncommon Flaps for Chest Wall Reconstruction  

PubMed Central

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.

Matros, Evan; Disa, Joseph J.

2011-01-01

39

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

40

Uncommon opportunistic yeast bloodstream infections from Qatar.  

PubMed

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

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

2014-07-01

41

Solar angioedema: an uncommonly recognized condition?  

PubMed

Solar urticaria is a well defined although uncommon photosensitivity disorder, and is said to be the underlying cause of chronic urticaria in approximately 0.5% cases. In contrast, solar angioedema is seldom reported. We describe two patients with postulated solar angioedema, associated with clinical and/or phototest features of solar urticaria. Recognition of solar provocation of angioedema has important consequences for patient management. PMID:16149933

Rose, R F; Bhushan, M; King, C M; Rhodes, L E

2005-10-01

42

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

43

Allergy to Uncommon Pets: New Allergies but the Same Allergens  

PubMed Central

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

Diaz-Perales, Araceli; Gonzalez-de-Olano, David; Perez-Gordo, Marina; Pastor-Vargas, Carlos

2013-01-01

44

Paraneoplastic pemphigus: an uncommon cause of chronic cicatrising conjunctivitis  

PubMed Central

We report a case of paraneoplastic pemphigus (PNP) as an uncommon but severe cause of cicatrising conjunctivitis. Initially diagnosed as drug eruptions, the patient’s condition did not improve despite cessation of chemotherapy. Immunohistological confirmation of PNP has led to the use of combined oral prednisolone and intravenous immunoglobulin. Her ocular conditions stabilised with complete recovery of vision. PNP is a rare disease that can present with ocular involvement. Ophthalmologists should play an active role in monitoring and treatment of ocular surface complications such as symblepharon formation, severe dry eye and epithelial breakdown. Vigorous and prompt treatment is the key to successful prevention of irreversible and blinding complications. The atypical feature in this case is the presence of eosinophilic infiltration on histology that is a feature of allergic aetiologies rather than classical PNP.

Tam, Patrick Mang Kwan; Cheng, Lulu L; Young, Alvin L; Lam, Philip Tsze Ho

2009-01-01

45

An uncommon cause of transient neurological dysfunction.  

PubMed

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

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

2014-07-01

46

An Uncommon Cause of Transient Neurological Dysfunction  

PubMed Central

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

Bhatt, Archit; Chang, Howard T.

2014-01-01

47

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

48

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

PubMed Central

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

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

2010-01-01

49

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

50

Uncommon complication after revision hip surgery.  

PubMed

Cauda equina syndrome is an uncommon complication of ankylosing spondylitis characterized by the slow and insidious development of severe neurologic impairment related to dural ectasia. This report describes a unique case of cauda equina syndrome in a patient with ankylosing spondylitis after hip revision surgery. A 70-year-old man with long-standing ankylosing spondylitis underwent standard hip revision surgery; combined spinal and general anesthesia was administered. Pain was controlled with intravenous opioids postoperatively (patient-controlled analgesia). As per routine protocol, on the first postoperative day, the patient remained supine on a hip abduction pillow; mobilization was initiated on the second postoperative day. On postoperative day 1, the patient had severe low back pain that was controlled with patient-controlled analgesia. On postoperative day 2, the Foley catheter was removed and the patient sat and dangled. Back pain persisted while supine; in addition, the patient noticed involuntary loss of urine. On postoperative day 3, the patient had below-the-knee numbness that progressed to saddle anesthesia and foot flexor and extensor weakness. An epidural hematoma was suspected and urgent magnetic resonance imaging was performed, which showed severe degenerative stenosis at the L4-L5 level (mainly by dense ligamentum flavum). An L4-L5 decompression and instrumented fusion was performed; intraoperatively, L4-L5 was found to be the sole mobile segment. The extension of the spine in the supine position that completely obliterated the spinal canal was considered the mechanism of cauda equina syndrome. The intensity of back pain is a good indicator of a severe spinal lesion; however, pain can be dampened by intravenous opioids. High suspicion is required in patients with preexisting spinal pathology, such as ankylosing spondylitis. PMID:24972447

Sakellariou, Vasileios I; Papadopoulos, Elias C; Babis, George C

2014-06-01

51

An uncommon association between parathyroid adenoma and Hodgkin disease.  

PubMed

The Authors refer their experience of a patient operated for adenoma of the inferior parathyroid of left lobe associated to a limphoadenopathy fom HD. Diagnostic and therapeutical approach are described. The literature of these last decades reports a single case with similar characteristics, but not with the same association. Numerous neoplasias associated more frequently with parathyroid adenoma are mentioned and the probable causes of this association. Although the associations with other affections of the hemolymphopoietic system are relatively frequent, the causes of the rarity of the association between parathiroid adenoma and HD remain unknown. PMID:21657156

Pasta, Vittorio; Redler, Adriano; Palmieri, Andrea; Chiarini, Stella; Merola, Raffaele; Monti, Massimo

2011-01-01

52

Haplotype kernel association test as a powerful method to identify chromosomal regions harboring uncommon causal variants.  

PubMed

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

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

2013-09-01

53

Uncommon findings in idiopathic hypertrophic cranial pachymeningitis  

Microsoft Academic Search

Background: Idiopathic hypertrophic cranial pachymeningitis (IHCP) is a rare, poorly understood, inflammatory disease, usually involving the dura mater of skull base, tentorium, and falx, and presenting with headache, progressive cranial nerve palsies, and cerebellar dysfunction. Patients and Methods: In four patients, the diagnosis of IHCP has been made on the basis of extensive clinical, and radiological investigation, and confirmed by

Simone Rossi; Fabio Giannini; Alfonso Cerase; Sabina Bartalini; Sergio Tripodi; Nila Volpi; Giampaolo Vatti; Stefano Passero; Paolo Galluzzi; Monica Ulivelli

2004-01-01

54

Diffuse colonic varices: an uncommon cause of intestinal bleeding.  

PubMed

Varices of the colon are uncommon and when present they are usually segmental. The cause of these segmental varices is usually portal hypertension. Diffuse variceal involvement of the colon is even more uncommon and up until now the two cases described in the literature have had an idiopathic etiology. We describe herein the third such case, while pointing out that the diffuseness implies an unknown cause. PMID:3486588

Vella-Camilleri, F C; Friedrich, R; Vento, A O

1986-06-01

55

[Newborn with lung mass of uncommon etiology].  

PubMed

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

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

2012-01-01

56

[An uncommon localization of pyoderma gangrenosum on the penis of an HIV infected patient in the Ivory Coast].  

PubMed

Pyoderma gangrenosum is an uncommon chronic ulcerative dermatosis with unknown aetiology and with a pathology which is still obscure. In 15-45% of cases, it is related to intestinal chronic inflammatory disease (MICI), to a systemic disease that it can sometimes reveals or to an immunodeficiency This disease starts whether with a pustule, a bubble or a nodule which leads during its evolvement to a superficial ulceration with clear edges. Its diagnosis is easy and is mainly clinical. It is a disease which is localized preferably in lower limbs. Treatment is mainly based on oral route corticotherapy. We report a case of gangrenosum pyoderma localized on the penis in a 43-year-old HIV infected patient. It is an uncommon localization, misleading and delicate. We have treated successfully this patient by oral corticotherapy combined with local antiseptic treatments for 6 months. PMID:19583026

Ecra, E; Ahogo, K C; Sangaré, A; Kaloga, M; Kassi, K; Kouamé, K; Kacou, D E; Gbery, I P; Yoboué, Y P; Kanga, J M

2009-05-01

57

P loops during common and uncommon atrial flutter in man.  

PubMed Central

Atrial flutter has never been satisfactorily defined. The 'common' pattern of flutter was originally described by Lewis in 1913. Less frequently observed forms of flutter are termed 'uncommon'. Sixteen cases of the 'common' and 6 of the 'uncommon' type have been studied using isolated P loop vectorcardiography. All patients had some degree of atrioventricular block but none had evidence of digitalis excess. The atrial rates were regular and were in a range between 250 and 330/minute. Vagal manoeuvres increased AV block in each instance. All those with the 'common' type of flutter had P loops with a caudad-cephalad orientation and fifteen of the sixteen had forces which descended over the right atrium and ascended over the left atrium. The 6 cases of the uncommon type of flutter had rates which ranged between 250 and 300/minute and did not fulfil both of the criteria for 'common' flutter; namely continuous baselineu ndulation and prominent negative P deflections in the inferior leads. The cases with the 'uncommon' type of flutter had a variety of loop patterns. The most frequent type was oriented inferior slightly to the right and anterior. One patient satisfied criteria for left atrial flutter. In another the loop was oriented inferior leftward and anterior. The vectorcardiogram provides a rich source of descriptive data but does not identify the underlying mechanism(s) of flutter. Images

Cohen, S I; Koh, D; Lau, S H; Rosen, K M; Damato, A N

1977-01-01

58

Thoracoscopic surgery for pulmonary oncocytoma, an uncommon neoplasm.  

PubMed

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

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

2014-02-01

59

Thoracoscopic surgery for pulmonary oncocytoma, an uncommon neoplasm  

PubMed Central

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

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

2014-01-01

60

Advocacy: Emphasizing the Uncommon about the Common Core State Standards  

ERIC Educational Resources Information Center

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

Kaplan, Sandra N.

2014-01-01

61

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

PubMed Central

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

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

2014-01-01

62

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

PubMed

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

Gunduz, Yasemin; Asil, K?yasettin; Aksoy, Yakup Ersel; Tatl? Ayhan, Laçin

2014-07-01

63

Metabolizable energy and fiber digestibility of uncommon feedstuffs for geese.  

PubMed

This experiment was conducted to study the digestibility of uncommon feedstuffs for geese. Thirty Taihu ganders were selected and divided into 5 groups (n = 6), and one group was allocated as the control. Taihu ganders in the 4 treated groups were force-fed with a weight of different uncommon feedstuffs after 24 h of fasting, and the control group was kept in fasting with no force feeding. All excretion of each gander was collected on a plate for 24 h after force feeding. There was a 12-d recovery period between treatments. In this study, we measured the ME and analyzed neutral detergent fiber, acid detergent fiber, and hemicellulose of brewers grains, distillers grains, empty-grain rice, ryegrass powder, rice husk, corn stalk, rice straw, wheat straw, wheat husk, mushroom bran, and peanut vine. The TME values were 9.29, 8.67, 8.97, 5.89, 3.85, 3.10, 3.32, 3.02, 5.29, 2.48, and 3.15 MJ/kg, respectively. The digestibility of neutral detergent fiber for the feedstuffs ranged from 6.14 to 45.0%, the digestibility of acid detergent fiber ranged from 4.52 to 32.6%, and the digestibility of hemicellulose ranged from 18.5 to 61.6%. The best TME quadratic prediction equation was TME = 12.2 - 0.232CF, where CF is crude fiber. These results suggest that geese were able to use uncommon feedstuffs with high digestibility, and there was a significant negative correlation between energy digestibility and CF content. The ME values tested in this experiment can provide a foundation for preparation and adjustment of feed formulation for reasonable use of uncommon feedstuffs for geese. PMID:23776268

Zhang, S J; Zhu, C H; Guo, J; Tang, Q P; Li, H F; Zou, J M

2013-07-01

64

Radiologic-pathologic correlation of uncommon mesenchymal liver tumors.  

PubMed

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

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

2013-01-01

65

Solar Elastosis in Its Papular Form: Uncommon, Mistakable  

PubMed Central

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

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

2014-01-01

66

Uncommon applications of sentinel lymph node mapping: urogenital cancers.  

PubMed

Beside the classical applications of sentinel lymph node mapping, some new procedures are emerging and showing feasibility and clinical utility. In this chapter, we will report on sentinel lymph node mapping in 1) malignancies of the female reproductive system (cervical cancer, endometrial cancer, vulvar cancer and ovarian cancer); 2) malignancies of the male reproductive system (prostate cancer, penile cancer and testicular cancer); 3) malignancies in kidney and bladder. This paper presents the uncommon applications of sentinel lymph node mapping in urogenital neoplasms. PMID:24835291

Giammarile, F; Vidal-Sicart, S; Valdés Olmos, R A

2014-06-01

67

In vitro maturation of oocytes: uncommon indications.  

PubMed

Retrieval of immature oocytes from unstimulated ovaries, followed by in vitro maturation (IVM) was initially proposed to avoid the risks and side effects of exogenous gonadotropin administration. Therefore, during the past decades, IVM was mainly offered to patients with polycystic ovary syndrome (PCOS) at high risk of ovarian hyperstimulation syndrome (OHSS). However, the development of fertility preservation has recently opened new perspectives in the field of IVM. The present review summarizes uncommon indications of IVM, which is a viable option to treat infertility in patients with ovarian resistance to FSH, but may also be considered to preserve fertility in leukemia as well as before ovarian transposition and endometrioma excision. PMID:23380185

Grynberg, Michael; El Hachem, Hady; de Bantel, Astrid; Benard, Julie; le Parco, Soizic; Fanchin, Renato

2013-04-01

68

Abrikossoff's tumor of tongue: Report of an uncommon lesion  

PubMed Central

Granular cell tumor, an uncommon neoplasm, can occur at any site in the body, but they are more commonly observed in the head and neck region, especially the oral cavity. A lesion of controversial origin, this entity has to be considered in the differential diagnosis of swellings of the tongue. Immunohistochemical findings obtained in the present case also render support for the neural histogenetic origin for this tumor. Though commonly observed in the fourth to sixth decades of life, we present this case in a 9-year-old female patient.

Suchitra, G; Tambekar, Kaustubh N; Gopal, Kango Prasad

2014-01-01

69

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

70

Lipofibromatosis: an institutional and literature review of an uncommon entity.  

PubMed

We report six new cases of lipofibromatosis, an uncommon pediatric soft tissue neoplasm. This is the only series of patients to be described since the initial case series of 45 patients that characterized this entity in 2000. The purpose of this study was to characterize the presentation of lipofibromatosis to further define the clinical phenotype of this rare entity. Six patients were diagnosed with lipofibromatosis at our institution from 2000 to 2012. Patient age, sex, and ethnicity were recorded, along with tumor site and size, management, and recurrence data. Half of our patients were younger than 2 years old at presentation and the other half were school age. Boys and girls were affected with equal frequency. In five of six patients, lipofibromatosis presented in its "classic" form as a mass on the distal extremities. These tumors typically measured 1 to 2 cm in diameter, in contrast to case reports in the medical literature highlighting the occurrence of lipofibromatosis of greater size and at varied anatomic sites. The tumors in our series were managed using excision, with recurrence noted in 33%. Lipofibromatosis is an uncommon tumor typically found on the distal extremities of infants, although it can appear in various sizes and locations. It should be considered in the differential diagnosis of pediatric soft tissue neoplasms. PMID:24758203

Boos, Markus D; Chikwava, Kudakwashe R; Dormans, John P; Chauvin, Nancy A; Jen, Melinda

2014-05-01

71

Acute scrotal pain: an uncommon manifestation of renal vein thrombosis.  

PubMed

The clinical manifestation of renal vein thrombosis varies with the speed and degree of venous occlusion. Such patients may be asymptomatic, have minor nonspecific symptoms such as nausea or weakness, or have more specific symptoms such as upper abdominal pain, flank pain, or hematuria. Acute scrotal pain is a very uncommon clinical expression of renal vein thrombosis. Here, we report a case of membranous glomerulonephritis-induced renal vein thrombosis presented with the symptom of acute scrotal pain caused by thrombosis-induced varicocele. This case report suggests that renal vein thrombosis should be considered in the diagnosis of acute scrotal pain; it also emphasizes that an investigation of retroperitoneum should be performed for adult patients with the sudden onset of varicocele. PMID:24495531

Jou, Yeong-Chin; Jong, Ing-Chin; Hsieh, Ying-Chen; Kang, Chun-Hsiung

2014-03-01

72

Uncommon foreign body reaction caused by botulinum toxin.  

PubMed

Botulinum toxin is composed of 7 botulinum toxin antigenic subtypes. It is produced by Clostridium botulinum bacterial fermentation. Several botulinum toxin subtypes are under investigation for clinical use, but only botulinum toxin type A (BTX-A) is currently approved for cosmetic use because of its clinical safety profile and efficacy. The use of BTX-A in cosmetic facial procedures is a reliable way to enhance aesthetics in the face and is becoming commonplace in oral and maxillofacial surgery. This article reports an uncommon complication after Botox injection in the upper lip, for cosmetic reasons, originating a mass in the anterior region of the maxilla, which leads to failure in orthodontic treatment. Knowledge of the site anatomy, pharmacology, and dose of BTX-A before its use in cosmetic surgery should be strengthened. PMID:22801160

Pontes, Helder Antonio Rebelo; Pontes, Flávia Sirotheau Correa; de Oliveira, Glauber Freitas; de Almeida, Haroldo Amorim; Guimarães, Douglas Magno; Cavallero, Flávio Cerqueira

2012-07-01

73

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.

74

Uncommon photoluminescence behavior of Fe3+ doped polyvinyl alcohol films  

NASA Astrophysics Data System (ADS)

In this paper, pure and Fe3+ doped polyvinyl alcohol (PVA) films, using FeCl3, are prepared by a solution casting method. The effect of Fe3+doping on the photoluminescence (PL) behavior of PVA is investigated in the temperature range from 10 to 300 K. At 300 K, the PL spectrum of pure PVA is formed by two bands I1and I2. These two bands can be connected with trap states inside the band gap. The PL intensities of I1 and I2 are found to increase with increasing the doping content. The temperature dependence of the PL intensity for neat PVA shows a decrease in the PL intensity with temperature assigned to the phonon diffusion by the photo-created electron–hole pairs. However, the PL studies of some doped samples containing an important amount of iron reveal an uncommon behavior of their PL intensity which rises with temperature. Two suggestions are given to explain such a behavior. The first is related to the change in the levels nature inside the bandgap and the second is correlated to the (I1–I2) energy.

Khalifa, N.; Souissi, A.; Attar, I.; Daoudi, M.; Yakoubi, B.; Chtourou, R.

2013-12-01

75

An uncommon case of Marine-Lenhart syndrome.  

PubMed

The term Marine-Lenhart syndrome describes the association between Graves' disease and autonomously functioning thyroid nodules (AFTN), such as toxic adenoma or toxic multinodular goiter. The two diseases may coexist or may be present at different moments in the same patient. In the literature, there are many reports on the development of Graves' disease after radioiodine treatment for AFTN, but very little information may be found on the occurrence of AFTN after radioiodine therapy for Graves' disease. We describe here the case of a female patient with Graves' disease who was successfully treated with radioiodine for Graves' disease, returning to normal thyroid function. Three years later, biochemical analysis and ultrasound examination identified a thyroid nodule that progressively increased in size. The 99mTc-pertechnetate scintigraphy showed avid uptake in the right lobule, which corresponded to a nodular lesion consistent with AFTN. PMID:24936736

Giuffrida, Giuseppe; Giovinazzo, Salvatore; Certo, Rosaria; Vicchio, Teresa Manuela; Baldari, Sergio; Campennì, Alfredo; Ruggeri, Rosaria Maddalena

2014-06-01

76

Catathrenia: Parasomnia or Uncommon Feature of Sleep Disordered Breathing?  

PubMed Central

Objective: We report a series of seven consecutive cases of catathrenia (sleep related groaning) that differ from limited previous reports in the literature with regard to sleep stage and response to treatment. Background: Catathrenia was recently defined as a parasomnia in the International Classification of Sleep Disorders Diagnostic and Coding Manual (ICSD-2), but there is debate about its classification, and its response to CPAP is unknown. Methods: We present 7 consecutive patients presenting with catathrenia over a 5-year period. They were all young women, ranging in age from 20 to 34 years with a body mass index (BMI) <25. They underwent standard clinical evaluation, questionnaires, physical exam, craniofacial evaluations, and nocturnal polysomnography. All seven were titrated on continuous passive airway pressure (CPAP) treatment for sleep disordered breathing then offered surgical treatment if unable to tolerate or adhere to CPAP recommendations. Results: Groaning was present throughout all stages of sleep. The mean (SD) AHI and RDI were 3.2 (0.56) and 13.1 (2.4) respectively. CPAP resolved groaning in all cases. 5 patients (71%) elected subsequent surgical intervention. Three of the 4 that followed up after surgery required adjuvant oral appliance treatment, but all four ultimately had resolution of groaning. Conclusions: Catathrenia may have subtypes related to sleep stage specificity or presence of sleep disordered breathing. In our heterogeneous group of non-obese women with a normal AHI and elevated RDI, CPAP and select soft tissue surgeries of the upper airway (often augmented with an oral appliance) successfully treated nocturnal groaning. Citation: Guilleminault C; Hagen CC; Khaja AM. Catathrenia: parasomnia or uncommon feature of sleep disordered breathing?. SLEEP 2008;31(1):132-139.

Guilleminault, Christian; Hagen, Chad C.; Khaja, Aliuddin M

2008-01-01

77

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

78

Viral Infection Is Not Uncommon in Adult Patients with Severe Hospital-Acquired Pneumonia  

PubMed Central

Background Viral pathogens have not generally been regarded as important causes of severe hospital-acquired pneumonia (HAP), except in patients with hematologic malignancy or transplant recipients. We investigated the role and distribution of viruses in adult with severe HAP who required intensive care. Methods From March 2010 to February 2012, adult patients with severe HAP required admission to the intensive care unit (ICU), 28-bed medical ICU in a tertiary care hospital, were prospectively enrolled. Respiratory viruses were detected using multiplex reverse-transcription polymerase chain reaction and/or shell vial culture. Results A total of 262 patients were enrolled and 107 patients (40.8%) underwent bronchoscopic BAL for etiologic diagnosis. One hundred and fifty-six patients (59.5%) had bacterial infections and 59 patients (22.5%) had viral infections. Viruses were detected in BAL fluid specimens of 37 patients (62.7%, 37/59). The most commonly identified viruses were respiratory syncytial virus and parainfluenza virus (both 27.1%, 16/59), followed by rhinovirus (25.4%, 15/59), and influenza virus (16.9%, 10/59). Twenty-one patients (8.0%, 21/262) had bacterial-viral coinfections and Staphylococcus aureus was the most commonly coexisting bacteria (n?=?10). Viral infection in non-immunocompromised patients was not uncommon (11.1%, 16/143), although it was not as frequent as that in immunocompromised patients (36.4%, 43/119). Non-immunocompromised patients were significantly older than immunocompromised patients and had significantly higher rates of underlying chronic obstructive pulmonary disease, tuberculous destroyed lung and chronic kidney disease. The 28 day mortalities of patients with bacterial infections, viral infections and bacterial-viral coinfections were not significantly different (29.5%, 35.6% and 19.0%, respectively; p?=?0.321). Conclusions Viral pathogens are not uncommon in adult patients with severe HAP who required ICU admission. Since viral pathogens may cause severe HAP and could be a potential source of viral transmission, further investigation is required to delineate the role of viral pathogens in severe HAP.

Hong, Hyo-Lim; Hong, Sang-Bum; Ko, Gwang-Beom; Huh, Jin Won; Sung, Heungsup; Do, Kyung-Hyun; Kim, Sung-Han; Lee, Sang-Oh; Kim, Mi-Na; Jeong, Jin-Yong; Lim, Chae-Man; Kim, Yang Soo; Woo, Jun Hee; Koh, Younsuck; Choi, Sang-Ho

2014-01-01

79

417 Uncommon Occupational Allergy to Rice: as a Food Allergen  

PubMed Central

Background Rice (Oryza sativa) belongs, with other cultivated cereals, to different tribes of the Poaceae family. It is one of the most widely produced and consumed cereals in the world but hypersensitivity reactions to this grain are uncommon Most reports describe an immunologically-mediated urticaria due to contact with raw rice or reactions after the inhalation of rice fumes, whereas reports of immediate hypersensitivity reactions after ingestion of rice are scarce. Methods Patient 1 (P1): A 40-year-old-man, a professional cook, presented 2 episodes of generalized urticaria minutes after rice ingestion. He tolerated the inhalation of vapours during rice-boiling, but reported icthy skin and erythema after rice handling. Patient 2 (P2): A 30-year-old-woman, pizzeria worker for the last 10 years, complaint of sneezing and rhinorrhea after handling rice for the last 2 years, and presented diarrhea and dysphagia after rice ingestion during the last year. One week before consulting she presented eyelid angioedema, chest tightness and abdominal cramping after doing exercise right after eating rice. None of the patients reported any additional atopic background. Skin prick tests with common inhalants and cereals extracts, Pru p 3 extract, prick-by-prick test with rice and rice flour and specific IgE determinations to rice were carried out in both patients. Results Skin prick tests to rice were positive in both patients (wheal diameter >3 mm). Skin prick-by-prick with rice and rice flour was also positive in patients 1 and 2. Serum specific IgE determinations against rice showed values of 0.8 kU/L and 1.48 kU/L for P1 and P2, respectively, out from a total IgE of 32.8 UI/mL and 23.7 UI/mL, respectively. SPT to common inhalants, to the rest of the cereals and to Pru p 3, showed a negative result. Conclusions We present 2 work-related cases of rice allergy with an unusual display and different clinical manifestations (urticaria, rhinitis and anaphylaxis) in 2 patients without atopic background and who worked handling rice and rice flour. No cross-reactivity with usual panallergens as LTP seemed to be involved.

Perez-Bustamante, Maria Socorro; Gonzalez-de-Olano, David; Antolin-Amerigo, Dario; Gandolfo-Cano, Mar; Gonzalez-Mancebo, Eloina

2012-01-01

80

Rapid onset asthma: a severe but uncommon manifestation  

PubMed Central

BACKGROUND—Studies of asthma death and severe life threatening asthma (SLTA) include reports of patients who had rapid onset asthma. A study was undertaken to determine the relative frequency of rapid (<6 hours duration) and slow (?6 hours) onset attacks in patients admitted to hospital with acute severe asthma, and to establish whether those with rapid onset asthma differ in terms of risk factors for asthma morbidity and mortality such as indices of asthma severity/control, socioeconomic factors, health care, and psychological factors.?METHODS—A cross sectional study was performed on 316 patients aged 15-49 years admitted with acute severe asthma and interviewed within 24-48 hours of admission.?RESULTS—Patients underestimated the duration of the index attack. Only 27 (8.5%) were classified as rapid onset. There were more men in the rapid onset group than in the slow onset group (52% versus 26%), and there was evidence of socioeconomic advantage in the patients with rapid onset attacks. The rapid onset group had more previous episodes of SLTA and were more likely to present with SLTA, but there was no difference in length of stay in hospital. The rapid onset group were less likely to have presented to a GP during the index attack and were more likely to have used ambulance services. There was no difference between the groups in any psychological or health care measure.?CONCLUSIONS—Rapid onset attacks are an important but uncommon manifestation of asthma that are more likely to present with SLTA in patients who are more likely to have had previous SLTA. Male subjects are at increased risk of rapid onset attacks, and socioeconomic disadvantage, deficiencies in health care (ongoing and acute), and psychological factors are no more common in these patients than in those with attacks of slow onset. These data are consistent with the hypothesis that there is a small proportion of patients with rapid onset severe asthma who do not have the usual risk factors associated with asthma morbidity or mortality, and thus require different management strategies.??

Kolbe, J; Fergusson, W; Garrett, J

1998-01-01

81

Cytodiagnosis of epidermoid cyst of the upper lip: a common lesion in an uncommon site.  

PubMed

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

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

2014-01-01

82

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

PubMed Central

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.

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

2013-01-01

83

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

84

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

85

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

PubMed Central

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

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

2014-01-01

86

Dermopathy of Graves' disease: Clinico-pathological correlation  

PubMed Central

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

Reddy, Sagili Vijaya Bhaskar; Gupta, Sushil Kumar; Jain, Manoj

2012-01-01

87

Gene Duplication Identified in an Uncommon Form of Bone Cancer  

Cancer.gov

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

88

Congenital candidiasis: an uncommon skin eruption presenting at birth.  

PubMed

We present the case of a preterm neonate who was born with respiratory distress and a papulovesicular rash that was diagnosed as congenital candidiasis (CC). The mother was asymptomatic. The cutaneous eruption and respiratory distress improved following treatment with systemic antifungals. Congenital candidiasis ranges in presentation from isolated cutaneous involvement to severe multisystem disease. Given its rarity among neonatal skin eruptions, heightened suspicion is required for prompt diagnosis and treatment. PMID:24897134

Siriratsivawong, Rick; Pavlis, Michelle; Hymes, Saul R; Mintzer, Jonathan P

2014-05-01

89

Ocular ischemic syndrome: A classical presentation of an uncommon condition  

PubMed Central

We report a 47-year-old male who presented with acute mono-ocular vision loss, and had classical signs of global ocular ischemia in the right eye. Fundus fluorescein angiography demonstrated delayed choroidal filling and no perfusion of retinal vasculature. Carotid Doppler and computed tomogram (CT) angiography studies revealed extensive bilateral atherosclerotic disease involving the carotid circulation. Ophthalmologists must be aware of the possibility of this potentially fatal condition, which is extremely rare. An astute clinical diagnosis, targeted workup for systemic associations and a prompt referral may turn out to be life-saving.

Vazirani, Jayesh A; Zadeng, Zoramthara; Dogra, Mangat R; Gupta, Amod

2014-01-01

90

American tegumentary leishmaniasis: an uncommon clinical and histopathological presentation*  

PubMed Central

We report a case of an unusual presentation of American Tegumentary Leishmaniasis involving a male patient with a solitary lesion on the ear lobe, persisting with minimal increase for at least six months without ulceration or related symptoms. The histological sections showed epithelial atrophy and a large number of structures consistent with Leishmania sp. amastigotes within macrophages. Treatment commenced with meglumine antimoniate resulting in regression of the condition. This report is of importance given the unusual clinical manifestation and histopathological findings in this case and the fact that there was low correlation with the extended duration of the disease.

Adriano, Adrilena Lopes; Leal, Paula Azevedo Borges; Breckenfeld, Marcelle Parente; Costa, Igor dos Santos; Almeida, Clarisse; de Sousa, Antonio Rene Diogenes

2013-01-01

91

Epidemiology of Peyronie's disease  

Microsoft Academic Search

Francois Gigot de la Peyronie, surgeon to Louis XV of France, has become synonymous with the rather enigmatic though not uncommon condition of Peyronie's disease (PD), a localized connective tissue disorder of the penile tunica albuginea. The true prevalence of Peyronie's disease is unknown. Therefore, we decided to perform an evaluation of existing epidemiological data. A prevalence rate of 3.2%

F Sommer; U Schwarzer; G Wassmer; W Bloch; M Braun; T Klotz; U Engelmann

2002-01-01

92

Lupus Flare: An Uncommon Presentation of Disseminated Gonorrhea  

PubMed Central

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

Kim, Joyce

2014-01-01

93

Congenital and infantile melanoma: review of the literature and report of an uncommon variant, pigment-synthesizing melanoma.  

PubMed

Congenital and infantile types of melanoma are uncommon conditions for which there are limited epidemiologic data. The number of reported cases is small with several ascribed etiologies. We review the literature and report the first documented case, to our knowledge, of pigment-synthesizing melanoma in an infant. Reported cases of congenital and infantile melanoma were identified and categorized on the basis of disease origin. Dermatopathologic specimens from an infant given a diagnosis of pigment-synthesizing melanoma are described. Disease arising from medium and large/giant congenital nevi was most common, whereas reports of de novo and transplacental disease were infrequent. Death of approximately 40% of patients was noted within 18 months of diagnosis. Male infants accounted for approximately 74% of cases. The most commonly affected anatomic sites were the head and neck. The prognosis for congenital and infantile melanoma is poor. The high incidence of head-and-neck involvement and male predominance for disease suggest dispositions for both anatomic disease localization and sex. PMID:12077586

Richardson, Stephen K; Tannous, Zeina S; Mihm, Martin C

2002-07-01

94

Renal abscesses in childhood: report of two uncommon cases.  

PubMed

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

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

2014-01-01

95

Recurrent anaphylactic reactions: an uncommon debut of lymphocytic hypophysitis.  

PubMed

We report on a 24-year-old male, with exercise-induced asthma and intermittent abdominal pain since puberty, who suffered from recurrent anaphylactic reactions. He also complained of occasional headaches. After extensive studies he was eventually diagnosed with idiopathic anaphylaxis, once the following diagnoses had been excluded: allergic origin [foods (including ?5-gliadin), latex and drugs], hydatidosis, carcinoid syndrome, systemic mastocytosis, autonomic epilepsy, hereditary angioedema, pheocromocitoma, Meckel diverticle, medullar thyroid carcinoma, leukemia, hyper-IgE and hypereosinophilic syndromes. Given the frequency and severity of the attacks, we started off-label treatment with omalizumab, initially well tolerated. Some days after the second dose the patient started to develop recurrent urticaria. Because of these new symptoms, blood work was repeated, and elevated TSH, decreased T4, positive antithyroid antibodies and decreased cortisol levels with normal ACTH were found. The antiadrenal autoantibodies were negative. The MRI showed a slight thickening of the infundibulum, without pituitary adenoma. Suspecting an autoimmune hypophysitis, we looked for antipituitary antibodies; the result was positive. A clinical picture of recurrent anaphylactic reactions, the result of complicated adrenal crises in an asthmatic patient, was a manifestation of lymphocytic hypophysitis, a rare chronic inflammatory disease of autoimmune etiology. One year after replacement therapy had been started, the patient remained asymptomatic. PMID:22573101

Bobolea, Irina; Guillén, Daiana; Barranco, Pilar; Alvarez-Escola, Cristina; Quirce, Santiago

2012-01-01

96

Torsion of the Retroperitoneal Kidney: Uncommon or Underreported?  

PubMed Central

Vascular torsion in a renal allograft after placement in the retroperitoneum is rare and has only been reported twice in the literature. It is an extrinsically mediated process that occurs at the vascular pedicle resulting in graft compromise and potential loss. Rapid diagnosis and immediate surgical intervention may salvage allograft function. Herein, we present a unique case of a 42-year-old male that developed renal allograft torsion following a second kidney transplant placed in the retroperitoneum. Immediate detorsion did not resolve allograft dysfunction, and a biopsy revealed acute cellular mediated rejection. After antithymocyte globulin treatment, allograft function was salvaged. A review of the current literature shows that the incidence, morbidity, and long term allograft function of intraperitoneal and extraperitoneal torsion are different. As such, torsion of the retroperitoneal kidney demonstrates encouraging allograft salvage rates. Only the third case reported to date, this serves as a contribution to the growing body of literature in retroperitoneal renal torsion and reviews the risks, medication considerations, diagnostic tests, and treatment modalities in a unique disease process.

Sosin, Michael; Lumeh, Wuya; Cooper, Matthew

2014-01-01

97

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

PubMed

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

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

2010-01-01

98

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

PubMed Central

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

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

2012-01-01

99

Risky behaviour: a rare complication of an uncommon disease in a returning traveller.  

PubMed

A 49-year-old man with a history of hypertension and no known drug allergies was admitted with a 4-day history of fever, general malaise, sore throat and diarrhoea. Eleven days ago, he had returned from a 2-week adventure holiday to South Africa. On admission, he was noted to have a creatinine 392 µmol/L, alanine aminotransferase 133 IU/L, alkaline phosphatase 211 IU/L and platelets 151×10(9)/L. A differential diagnosis of suspected leptospirosis or bacterial sepsis was made and he was started on ceftriaxone. Two hours later he became hypotensive, tachypnoeic with severe myalgia and a temperature of 41°C, type I respiratory failure and metabolic acidosis. There was no stridor, facial swelling or rash. A diagnosis of Jarisch-Herxheimer reaction was made. A second dose of ceftriaxone was given without any reaction. The patient thereafter completed 7 days of doxycycline. PCR confirmed leptospirosis and subsequent leptospirosis IgM was positive. He improved clinically with treatment and was discharged after 10 days of admission. PMID:24108774

Pimenta, Dominic; Democratis, Jane

2013-01-01

100

Anal canal plasmacytoma--An uncommon presentation site  

PubMed Central

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

Antunes, Maria Ines; Bujor, Laurentiu; Grillo, Isabel Monteiro

2010-01-01

101

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

PubMed Central

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?uncommon NFGNB group. Knowledge of factors associated with uncommon NFGNB bacteremia would help physicians to distinguish between low vs. high risk patients.

2013-01-01

102

Coeliac disease in children of West Indian origin.  

PubMed Central

Coeliac disease is uncommon in populations of non-European origin. Two English born West Indian children with coeliac disease are presented. The diagnosis should be considered in children of West Indian origin with chronic diarrhoea.

Hung, J C; Phillips, A D; Walker-Smith, J A

1995-01-01

103

Crohn's disease of the mouth and ovary  

Microsoft Academic Search

Summary A patient is presented who has granulomatous involvement of the gingiva, ileum, cecum, appendix, and ovary consistent with Crohn's disease. A discussion of the uncommon oral and ovarian lesions is presented.

Stephen S. Frost; Mark P. Elstein; Frantz Latour; James L. A. Roth

1981-01-01

104

Simultaneous Infection with More than One Strain of Burkholderia pseudomallei Is Uncommon in Human Melioidosis?  

PubMed Central

A prospective study was performed to determine the rate at which patients with melioidosis are infected with more than one strain of Burkholderia pseudomallei. Genotyping of 2,058 bacterial colonies isolated from 215 samples taken from 133 patients demonstrated that mixed infection is uncommon (2/133 cases [1.5%; 95% confidence interval, 0.2 to 5.3%]).

Limmathurotsakul, Direk; Wuthiekanun, Vanaporn; Chantratita, Narisara; Wongsuvan, Gumphol; Thanwisai, Aunchalee; Biaklang, Mayurachat; Tumapa, Sarinna; Lee, Sue; Day, Nicholas P. J.; Peacock, Sharon J.

2007-01-01

105

Characterization of atypical Candida tropicalis and other uncommon clinical yeast isolates.  

PubMed Central

Clinical yeast isolates representing alpha-glucoside-deficient variants of Candida tropicalis, C. lusitaniae, atypical C. albicans, and Saccharomyces cerevisiae were characterized. Additional physiological tests, including cellobiose fermentation, rhamnose assimilation, and triphenyl tetrazolium chloride reduction, are recommended for the detection and presumptive identification of uncommon Candida spp. in the clinical laboratory. Images

Schlitzer, R L; Ahearn, D G

1982-01-01

106

A SURVEY OF INTENSIVE PROGRAMS IN THE UNCOMMON LANGUAGES, SUMMER 1962.  

ERIC Educational Resources Information Center

THIS REPORT ON INTENSIVE COURSES IN THE UNCOMMON LANGUAGES CONDUCTED AT 22 AMERICAN COLLEGES AND UNIVERSITIES DURING THE SUMMER OF 1962 IS THE RESULT OF A SURVEY UNDERTAKEN BY H.M. HOENIGSWALD OF THE UNIVERSITY OF PENNSYLVANIA, R.B. NOSS OF THE FOREIGN SERVICE INSTITUTE, AND E.N. MCCARUS AND J.K. YAMAGIWA OF THE UNIVERSITY OF MICHIGAN. (BY…

HOENIGSWALD, HENRY M.; AND OTHERS

107

Dysphonia, an uncommon symptom of systemic neurotoxic envenomation by Vipera aspis bite. Report of two cases.  

PubMed

Two cases of Vipera aspis bites with severe envenomation in which, among other neurotoxic signs, dysphonia was observed, with alteration of the pitch of the voice are described. This uncommon symptom has never been reported in envenomation by European adders. It is pointed out that bites of European vipers should never be underestimated as severe envenomation may develop. PMID:9655630

Beer, E; Putorti, F

1998-05-01

108

Littoral cell angioma of spleen: an uncommon presentation of a rare neoplasm.  

PubMed

Littoral cell angioma (LCA) is a rare primary splenic tumor that is difficult to differentiate preoperatively from other benign and malignant splenic lesions. Most of the cases present as multiple nodules in the spleen. We report a case of large solitary LCA of the spleen, an uncommon presentation. LCA should be considered in the differential diagnosis of multiple and solitary splenic lesions. PMID:23393626

Gupta, Pramod; Peungjesada, Silanath; Foshee, Soume; Amirkhan, Robin H

2012-01-01

109

Littoral Cell Angioma of Spleen: An Uncommon Presentation of a Rare Neoplasm  

PubMed Central

Littoral cell angioma (LCA) is a rare primary splenic tumor that is difficult to differentiate preoperatively from other benign and malignant splenic lesions. Most of the cases present as multiple nodules in the spleen. We report a case of large solitary LCA of the spleen, an uncommon presentation. LCA should be considered in the differential diagnosis of multiple and solitary splenic lesions.

Gupta, Pramod; Peungjesada, Silanath; Foshee, Soume; Amirkhan, Robin H

2012-01-01

110

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

111

Hydatid disease and tubulointerstitial nephritis.  

PubMed

Hydatid disease of the kidney is rare, particularly in the isolated form, and tubulointerstitial nephritis is an extremely uncommon manifestation of renal hydatidosis. Here is the report of a patient with isolated renal hydatid disease who presented with acute renal failure secondary to tubulointerstitial nephritis. The patient responded to the combination of albendazole, corticosteroids and total nephrectomy. PMID:21461993

Nickavar, Azar

2011-07-01

112

[Castleman's disease of the abdomen].  

PubMed

Plasmocytic variants of Castleman's disease are uncommon. We report a new case of abdominal location with a rapidly fatal outcome. Another particularity of that case was the negativity of Kaposi's sarcoma associated herpesvirus, a virus recently implicated in human immunodeficiency virus associated Castleman's disease. PMID:9791566

Collet, T; Salaün, V; Bouin, M; Piquet, M A; Auriault, M L; Dao, T; Verwaerde, J C; Troussard, X

1998-09-01

113

Camel bite injury to the maxillofacial region: unusual cause and uncommon location.  

PubMed

Animal bite injuries are prevalent worldwide, but the causative animal and the spectrum of injuries are dependent on the kind of animals cohabitating with the human population. Camel bites as a cause are relatively rare. Camels are particularly aggressive, especially during the mating season, when conflicts between the males occasionally lead to dangerous fights resulting in the death of one or both of the combatants. We present a case of camel bite injury to the maxillofacial region inducing an uncommon fracture and the management of both soft and hard tissue injuries, especially addressing the literature for this uncommon bite injury. Because of the unique mode of injury, the ramus was horizontally fractured and displaced. The fracture was also compound because of the deep intraoral bite wounds. The ramal fracture itself is a rare entity. The issue of primary or delayed closure in such cases is addressed. PMID:24220382

Khatana, Shruti; Bhagol, Amrish

2013-11-01

114

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

PubMed Central

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

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

2013-01-01

115

Adenofibroma in a Young Patient: A Rare Entity in an Uncommon Age  

PubMed Central

Adenofibroma is an extremely uncommon benign tumor composed of glandular and fibrous tissues. It occurs more often in the endometrium but it can also occur in the cervix and extrauterine sites. We report a case of a 32-year-old asymptomatic woman with cervical adenofibroma, first detected in a routine endovaginal ultrasound, as a cervical mass containing multiple cystic components. Histopathologic findings diagnosed its nature. As adenofibromas are very rare, we present this case with a brief review of the literature.

Maciel, R.; Carvalho, S.; Teixeira, M.; Areias, M. J.

2013-01-01

116

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

117

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

PubMed Central

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

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

2012-01-01

118

[Acquired von Willebrand's disease].  

PubMed

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

Berentsen, S; Hammerstrøm, J

1993-05-10

119

Right ventricular dysplasia in an asymptomatic young man: an uncommon case with biventricular involvement and no known family history.  

PubMed

A 33-year-old man had cardiomegaly on a routine x-ray examination. He was asymptomatic with no history of infarction, syncope, or palpitations. There was no family history of congenital heart disease or sudden death. Two-dimensional transthoracic echocardiography demonstrated marked enlargement of the right atrium and ventricle with severely depressed right and left ventricular function that was consistent with right ventricular dysplasia. The patient was treated with an angiotensin-converting enzyme inhibitor and did well for 6 months, but then developed symptomatic left-sided congestive heart failure. Short-term improvement was obtained with intravenous inotropic therapy, but he continued to have progressive symptoms of heart failure. Approximately 7 months after his initial presentation, the patient underwent orthotopic heart transplantation for intractable congestive heart failure. Pathologic examination of the explanted heart established the diagnosis of right ventricular dysplasia with left ventricular involvement. This is an uncommon presentation of right ventricular dysplasia with biventricular involvement and no known family history. PMID:11287899

Patel, V V; Ferrari, V A; Narula, N; Wiegers, S E; St John Sutton, M G

2001-04-01

120

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

PubMed Central

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

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

2014-01-01

121

Ventricular standstill: An uncommon electrophysiological abnormality caused by profound vagal tone  

PubMed Central

Context: Ventricular standstill (VS) is an uncommon electrophysiological phenomenon and usually manifests as syncope. Rarely has a case been reported where the patient has been totally asymptomatic, and it has resolved spontaneously. Case Report: We report a case of complete VS and high-degree atrioventricular (AV) block in a 50-year-old female, who was admitted for nausea, vomiting, and chest pain. The patient never had a syncopal episode, even though she was in VS for more than 10 s. Conclusion: Such degree of conduction abnormality without any syncope has not been reported so far. Her electrophysiological abnormality was attributed to profound vagotonic effect and was treated with a permanent pacemaker.

Jaiswal, Shikha; Aldave, Adrian Pedro Noriega; Wool, Kenneth J

2014-01-01

122

Uncommon Breeding Birds in North Dakota: Population Estimates and Frequencies of Occurrence  

NSDL National Science Digital Library

The Northern Prairie Wildlife Research Center (NPWRC) has posted five newly online resources at the Center's homepage. These scientific articles were originally published in print journals, but are fully (and freely) available here, complete with figures. The final paper is by authors Lawrence D. Igl, Douglas H. Johnson, and Harold A. Kantrud, and was originally published in 1999 in Canadian field-Naturalist [113(4):646-651]. The paper presents statewide population estimates and frequencies of occurrence of uncommon species, based on surveys conducted in 1967, 1992, and 1993. All papers may be downloaded as .zip files.

123

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

PubMed

Hepatitis C-associated osteosclerosis (HCAO) is a rare sclerosing bone condition characterized by debilitating, predominantly lower extremity bone pain, accelerated bone turnover, and a generalized increase in histologically normal trabecular and cortical bone tissue. Herein we report the clinical presentation and imaging results of the 19th case of HCAO. Clinicians, particularly those caring for a population at risk for HCV infection, should be aware of this uncommon condition. The etio-pathogenesis of HCAO remains obscure but may bear important lessons in bone biology that could lead to new treatment options for osteoporosis. PMID:24719041

Epperla, Narendranath; McKiernan, Fergus E

2014-09-01

124

Primary cutaneous mucormycosis presenting as a giant plaque: uncommon presentation of a rare mycosis.  

PubMed

Mucormycosis is an uncommon systemic mycosis affecting the immunocompromised individuals. It is usually caused by organisms of the genera Rhizopus and Mucor, although rarely other organisms have also been implicated. Mycoses due to these angioinvasive fungi have an acute onset, rapidly progressive course with high mortality rate. A rare and less well known is the chronic subtype of primary cutaneous mucormycosis (PCM). Herein, we report a case of PCM clinically presenting as a chronic, giant destructive plaque in a young immunocompetent male and coin the term chronic granulomatous mucormycosis. A clinicopathological classification for cutaneous mucormycosis is also proposed. PMID:24792360

Vinay, Keshavamurthy; Chandrasegaran, Ariganesh; Kanwar, Amrinder J; Saikia, Uma N; Kaur, Harsimran; Shivaprakash, M R; Dogra, Sunil

2014-08-01

125

Fungal diseases of laboratory rodents.  

PubMed

Although fungal disease is uncommon in rodents, dermatophytosis is the most common mycosis seen in clinical practice. T. mentagrophytes is the most common etiologic agent, and the guinea pig is the most common species affected, although there are reports in all pet and laboratory rodent species except the gerbil. Despite the low incidence of clinical disease, rodents are common asymptomatic carriers of dermatophytes, and ringworm is the most common zoonotic disease transmitted from rodents to people. PMID:12827729

Pollock, Christal

2003-05-01

126

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

127

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

NASA Astrophysics Data System (ADS)

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

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

2005-04-01

128

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

PubMed Central

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

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

2014-01-01

129

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

PubMed

Second lymphoid neoplasms are an uncommon but recognized feature of non-Hodgkin's lymphomas, putatively arising secondary to common genetic or environmental risk factors. Previous limited evaluations of clonal relatedness between successive mature B-cell malignancies have yielded mixed results. We describe the case of a man with intravascular large B-cell lymphoma involving the central nervous system who went into clinical remission following immunochemotherapy and brain radiation, only to relapse 2 years later with a plasmacytoma of bone causing cauda equina syndrome. The plasmacytoma stained strongly for the cell cycle regulator cyclin D1 on immunohistochemistry, while the original intravascular large cell lymphoma was negative, a disparity providing no support for clonal identity between the 2 neoplasms. Continued efforts atcataloging and evaluating unique associations of B-cell malignancies are critical to improving understanding of overarching disease biology in B-cell malignancies. PMID:24715915

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

2014-01-01

130

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

PubMed

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

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

2014-01-01

131

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

132

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

PubMed

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

Giger, Roland; Dulguerov, Pavel; Payer, Michael

2006-10-01

133

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

PubMed

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

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

2014-06-01

134

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

PubMed Central

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

Kavalakat, Alfie J; Varghese, Chalissery J

2008-01-01

135

An uncommon case of chronic leg ulcers in an 80-year-old woman.  

PubMed

Ulcers of the lower extremities, particularly in individuals older than 65, are a common cause for visits to the dermatologist, primary-care physician, or vascular surgeon. There are many different causes of leg ulcers, among which vascular causes are the most frequent. Less commonly, other pathological processes result in leg ulcers. Unfortunately some of them are malignant. Large B-cell lymphoma, leg type, is a malignant lymphoma of intermediate behavior, occurring mostly on the legs in elderly patients. Usually it presents as erythematous or bluish-red nodules or tumors, but ulcerations are not uncommon. When faced with unusual and non-healing ulcers, the physician should also have in mind rarer but more lethal causes. PMID:20372769

Stopajnik, N; Zgavec, B; Luzar, B; Kecelj Leskovec, N

2010-01-01

136

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

PubMed Central

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

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

2012-01-01

137

Evaluation of Mycobacterium avium complex lung disease in women  

Microsoft Academic Search

Mycobacterium avium complex (MAC) is a ubiquitous organism responsible for most pulmonary and disseminated disease caused by non-tuberculosis (NTM) mycobacteria. Though MAC lung disease without predisposing factors is uncommon, in recent years it has been increasingly described in middle-aged and elderly women. Recognition and correct diagnosis, is often delayed due to the indolent nature of the disease. It is unclear

Tracie J Gardner

2004-01-01

138

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)  

Microsoft Academic Search

Infantile ceramidase deficiency (Farber disease) is an uncommon, progressive lysosomal storage disease characterized by multiple ceramide-containing nodules (lipogranulomata) in the subcutaneous tissue and upper aerodigestive tract, painful periarticular swelling, psychomotor retardation, and varying degrees of ocular, pulmonary or hepatic involvement. Management of Farber disease has been limited to symptomatic supportive care, and few affected infants survive beyond 5 years of

AM Yeager; K Armfield Uhas; CD Coles; PC Davis; WL Krause; HW Moser

2000-01-01

139

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

140

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

ERIC Educational Resources Information Center

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

Johnson, Dora E.; And Others

141

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

PubMed

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

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

2011-01-30

142

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

143

Uncommon GNAQ, MMP8, AKT3, EGFR, and PIK3R1 Mutations in Thyroid Cancers  

PubMed Central

Frequent mutations in the GNAQ, MMP8, Akt3, EGFR, and PIK3R1 genes have been reported in human cancers but mostly have not been well examined in thyroid cancer. Selected exons of GNAQ, MMP8, AKT3, EGFR, and PIK3R1 genes were sequenced in various thyroid cancers. We found a G2203A EGFR mutation, resulting in a G735S amino acid change, in one of 21 (5%) papillary thyroid cancer samples. We did not find any mutation in the MMP8 gene, but observed a frequent SNP A259G (K87E) genotype switch in various types of thyroid cancer samples. We did not find any mutation in the GNAQ, AKT3, and PIK3R1genes in various types of thyroid cancer. No mutation in these genes was found in 12 cell lines derived from various types of thyroid cancer. Therefore, unlike in other cancers, mutations in these genes are uncommon in thyroid cancer.

Murugan, Avaniyapuram Kannan; Dong, Jianli; Xie, Jingwu

2011-01-01

144

Ancient Schwannoma of the hard palate. An uncommon case report and review  

PubMed Central

Schwannoma or neurilemmoma is an infrequent benign tumor in the oral cavity that originates from the Schwann cells on the neural sheath of the peripheral nerves. Schwannomas are frequently located in the soft tissues of head and neck region, but only a 1 to 12% of them are located in the oral cavity. Some histological variants of schwannoma have been described including the cellular, plexiform, epithelioid, ancient, and melanocytic types. The “ancient schwannoma” is an uncommon variant of this tumor that shows specific histological characteristics, and is rare in the oral cavity with less than 15 cases described on the literature. Most of them were located in the tongue or in the floor of the mouth, being the hard palate an extremely rare localization. We present a new clinical case of an ancient schwannoma with a long time of evolution, arising from the nasopalatine nerve, and located in the hard palate of a 35 year old female. We also review the main clinical and histological characteristics of this pathology. Key words:Ancient schwannoma, neurilemmoma, palate, schwannoma.

Gainza-Cirauqui, Maria L.; Eguia-Del Valle, Asier; Martinez-Conde, Rafael; Coca-Meneses, Juan C.; Aguirre-Urizar, Jose M.

2013-01-01

145

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

PubMed Central

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

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

2014-01-01

146

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

PubMed

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

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

2014-01-01

147

Mammary and extramammary Paget's disease  

PubMed Central

Mammary and extramammary Paget's disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget's disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget's disease and extramammary Paget's disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget's disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget's disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value. Key Words: mammary Paget's disease • extramammary Paget's disease

Lloyd, J; Flanagan, A

2000-01-01

148

Plantar fibromatosis: an isolated disease.  

PubMed

Plantar fibromatosis is a relatively uncommon benign disease characterized by bilateral nodular thickening of the plantar fascia similar in appearance to the disease which occurs in the palm of the hand. Descriptions of plantar fibromatosis in the literature were usually included as a part of a syndrome described as ectopic diseases of Dupuytren. Isolated case reports have described Dupuytren-like contractures of the plantar fascia but often suggested a relationship with palmar lesions. We have recently treated four patients with isolated plantar fibromatosis without other stigmata of Dupuytren's disease. These patients were treated by removal of all the involved plantar fascia with a wide margin of normal-appearing fascia. PMID:2911628

Haedicke, G J; Sturim, H S

1989-02-01

149

Nutritional composition of uncommon foods and their role in meeting micronutrient needs.  

PubMed

Uncommon fruits and vegetables, namely leaves of Bauhenia purpurea Linn., Chenopodium album Linn., Fagopyrum esculentum Moench., and Gleichenia linearis and green and ripe fruits of Ficus roxburghi were analysed for their proximate composition, minerals and vitamin content, in vitro bioavailability of mineral, in vitro protein digestibility and two anti-nutrients, i.e. oxalic and phytic acid. Results showed crude protein, crude fat, minerals, crude fibre, carbohydrate, energy, calcium, iron, and iodine content was in the range of 1.74 to 4.93%, 0.23 to 1.38%, 0.46 to 3.02%, 0.88 to 5.02%, 1.46 to 14.46%, 15 to 76 Kcal, 19 to 355 mg, 1.22 to 6.2 mg and 0.5 to 5.16 mg, respectively, beta-carotene, thiamin, riboflavin, niacin and ascorbic acid content ranged between 169 to 3020 micrograms, 0.03 to 0.1 mg, 0.02 to 0.24 mg, 0.07 to 0.87 mg and 3.26 to 173.13 mg per 100 g, respectively. In vitro bioavailability of iron and calcium ranged between 4.62 to 9.23% and 7.30 to 63.48%. In vitro protein digestibility ranged between 9.78 to 14.48%. Findings of the study indicate that all the samples studied are good sources of micronutrients. To provide food security there is need to explore every possible source of nutrients. PMID:11474897

Raghuvanshi, R S; Singh, R; Singh, R

2001-07-01

150

Pelvic inflammatory disease in the postmenopausal woman.  

PubMed Central

OBJECTIVE: Review available literature on pelvic inflammatory disease in postmenopausal women. DESIGN: MEDLINE literature review from 1966 to 1999. RESULTS: Pelvic inflammatory disease is uncommon in postmenopausal women. It is polymicrobial, often is concurrent with tuboovarian abscess formation, and is often associated with other diagnoses. CONCLUSION: Postmenopausal women with pelvic inflammatory disease are best treated with inpatient parenteral antimicrobials and appropriate imaging studies. Failure to respond to antibiotics should yield a low threshold for surgery, and consideration of alternative diagnoses should be entertained.

Jackson, S L; Soper, D E

1999-01-01

151

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

152

Orbital solitary fibrous tumor with multinucleate giant cells: case report of an unusual finding in an uncommon tumor.  

PubMed

Solitary fibrous tumor (SFT) is a rare soft-tissue neoplasm which may occur at any site although it is more frequent in the pleura, mediastinum and lung. Orbital involvement by SFT is uncommon. Giant cells are extremely rare to be seen in a SFT and have been described to be immunoreactive for CD34. We present a case of orbital SFT with multinucleate giant cells expressing CD68 and lacking immunoreactivity for CD34. The differential diagnosis is discussed. PMID:24152511

Mulay, Kaustubh; Honavar, Santosh G

2013-01-01

153

Sarcoidosis Presenting as Metastatic Bony Disease  

Microsoft Academic Search

Although asymptomatic lytic bony lesions of the phalanges of the hands and feet are not uncommon in patients with sarcoidosis, involvement of the vertebral bodies is rare. Because these lesions can mimic other diseases of the bones on radionuclide scans and magnetic resonance imaging (MRI), this case emphasizes the importance of obtaining tissue and excluding malignancy and infection before the

Debra Mangino; Diane E. Stover

2004-01-01

154

FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese  

PubMed Central

Background In premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected. FMR1 premutation was reported to be responsible for up to 3.3%–6.7% of sporadic POF and 13% of familial cases in Caucasians, while the data was absent in Chinese population. Therefore, the impact of FMR1 CGG repeat on ovarian reserve is needed to be investigated in large Chinese cohort. Methods The number of FMR1 CGG repeat was determined in 379 Han Chinese women with well-defined 46, XX non-syndromic sporadic POF and 402 controls. The age of menopause onset in respect to CGG repeats was further analyzed. Results The frequency of FMR1 premutation in Han Chinese POF was only 0.5% (2/379), although it was higher than that in matched controls (0%, 0/402), it was much lower than that reported in Caucasian with POF (3.3%–6.7%). The prevalence of intermediate FMR1 (41–54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P?=?0.343). However, POF patients more often carried a single additional CGG repeat in a single allele than did fertile women (allele-1: 29.7 vs. 28.8, P<0.001; allele-2: 32.6 vs. 31.5, P<0.001). POF patients with both alleles of CGG repeats outside (below or above) the normal range (26–34) showed an earlier age of cessation of menses than those with two alleles within normal range (hom-high/high vs. norm: 20.4±4.8 vs. 24.7±6.4, p<0.01; hom-low/high vs. norm: 18.7±1.7 vs. 24.7±6.4, p<0.01). Conclusions FMR1 premutation seems to be an uncommon explanation for POF in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging.

Guo, Ting; Qin, Yingying; Jiao, Xue; Li, Guangyu; Simpson, Joe Leigh; Chen, Zi-Jiang

2014-01-01

155

Femoral neck fractures complicating gaucher disease in children  

Microsoft Academic Search

In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton [16, 17]. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without other injury to the skeleton. Three children with Gaucher disease who developed

Amy Beth Goldman; Bernard Jacobs

1984-01-01

156

Hepatitis B and Renal Disease  

Microsoft Academic Search

Glomerulonephritis is an important extrahepatic manifestation of chronic hepatitis B virus (HBV) infection. The uncommon occurrence,\\u000a variability in renal histopathology, and heterogeneity in clinical course present challenges in clinical studies and have\\u000a resulted in a relative paucity of data and uncertainty with regard to the optimal management of HBV-related glomerular diseases.\\u000a The advent of nucleos(t)ide analogue medications that effectively suppress

Tak Mao Chan

2010-01-01

157

Pediatric and inherited neurovascular diseases.  

PubMed

Pediatric and inherited neurovascular syndromes have diverse presentations and treatments. Although many of these diseases are uncommon, they must be included in the differential diagnosis for children with strokes or hemorrhages. In neurosurgical practice, familial cavernous malformations, hereditary hemorrhagic telangiectasia (HHT), and moyamoya are the most frequently encountered of these diseases. In this article, we will discuss familial cavernomas and HHT, as well as more unusual entities such as PHACE(S) syndrome, Klippel-Trenaunay syndrome, Wyburn-Mason syndrome, sinus pericranii, radiation-induced vasculopathy, and blue rubber bleb nevus (BRBN) syndrome. Moyamoya disease is covered in several other articles in this volume. PMID:20561493

Vanaman, Monique J; Hervey-Jumper, Shawn L; Maher, Cormac O

2010-07-01

158

[Liver diseases and pregnancy].  

PubMed

The pregnancy determines a deep variation in the human physiology mediated through sexual hormones. These changes can entail the appearance of diseases that affect the liver such as hyperemesis gravidarum, HELLP syndrome, intrahepatic cholestasis of pregnancy and acute fatty liver of pregnancy. The knowledge of the specific features of these diseases is crucial for their prompt recognition, since they are uncommon diseases in the clinical daily setting of the hepatologist. In addition, several preexisting chronic hepatopathies, including the liver post-transplant status, can affect the course of pregnancy and the maternal-fetal health. Understanding the distinct hepatic diseases which develop during pregnancy must be based on the knowledge of the perceptible physiological changes both on physical examination and laboratory tests which occur during the uneventful gestation. PMID:11766287

Nicolás Pérez, D; Ortiz Bellver, V; Pastor Plasencia, M A; Berenguer Haym, M; Ponce García, J

2001-10-01

159

Neurofibromatosis type 1 and renal artery aneurysms: an uncommon entity of severe hypertension.  

PubMed

Neurofibromatosis (NF1) is a relatively common autosomal dominant disorder. Secondary causes of hypertension, such as renovascular disease, coarctation of the abdominal aorta or phaeochromocytoma, may be identified in up to 1% of patients with NF1. Usually, renal angiography, which is always used to confirm the diagnosis of renovascular hypertension, reveals stenoses and rarely bilateral or unilateral renal artery aneurysms. We present the first description of a percutaneous transluminal renal angioplasty performed in an adult female patient with NF1, severe hypertensive disease and renal artery aneurysms, in order to restore renal artery anatomy and treat renovascular hypertension. PMID:22275749

Triantafyllidi, Helen; Papadakis, John; Brountzos, Elias; Arvaniti, Chrysa; Theodoropoulos, Konstantinos; Panayiotides, Ioannis; Georgakopoulos, Alexandros; Tzanela, Marinella; Vassilatou, Evangelina; Lekakis, John; Anastasiou-Nana, Maria

2012-01-01

160

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

PubMed Central

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

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

2014-01-01

161

[Cat scratch disease. Atypical forms].  

PubMed

First described by Robert Debré in 1950, cat scratch disease, usually observed in children and young adults (80% of the case occur in subjects under 18), is the principal cause of chronic benign lymph node enlargement. The Centers for Disease Control at Atlanta currently recognize Afipia felis and Rochalimaea henselae as the causal agents of cat scratch disease. Cats transmit the disease to humans by skin scratches or by licking open wounds. The bacilli can also be transmitted by dogs, monkeys, squirels or inert objects. The contaminating cats are usually young. There is no interhuman transmission. There are several uncommon manifestations of cat scratch disease which may misguide diagnosis. In atypical forms, the positive diagnosis of this benign disease can only be confirmed by serology or molecular biology techniques. In order to reduce the duration of the disease, antibiotic treatment is recommended in forms with systemic involvement and in atypical forms although there has been no proof of efficacy. PMID:8685112

Bourrillon, A; Leclainche, L

1996-03-23

162

Uncommon pathological findings in sural nerve biopsy from a patient with Churg-Strauss related multiple mononeuropathy.  

PubMed

We describe a patient with severe multiple mononeuropathy associated with hypereosinophilia, asthma and pulmonary non cavitating micronodules. Sural nerve biopsy revealed marked perineural thickening and microfasciculation with inflammatory infiltrates in the perinerium and in the epinerium. The patient markedly improved with steroid therapy. Our final diagnosis was Churg-Strauss related multiple mononeuropathy. Thus, we report a case of Churg-Strauss related multiple mononeuropathy with uncommon pathological findings on sural nerve and we underline the importance of clinical evaluation for this diagnosis. PMID:24435033

Luigetti, Marco; Del Grande, Alessandra; Romano, Angela; Sabatelli, Mario

2013-01-01

163

Non-cirrhotic portal vein thrombosis, an uncommon cause of portal hypertension - a case report.  

PubMed

Most cases of portal hypertension follow chronic liver disease (cirrhosis) while non cirrhotic causes are occasionally seen. A case of portal hypertension secondary to non-cirrhotic portal vein thrombosis is reported. The patient was managed at the Aminu Kano Teaching Hospital Kano, Nigeria in the year 2006. She presented with recurrent massive upper gastrointestinal bleeding and was resuscitated, followed by clinical, radiological and endoscopic evaluation. She had massive splenomegaly and grade four oesophageal varices with evidence of recent bleed. There were, however, no other stigmata of chronic liver disease or portal hypertension. Abdominal computed tomography scan confirmed portal vein thrombosis. Splenectomy and ligation of short gastric veins was performed and the patient has not had any repeat episode of haematemesis or malaena six months post surgery. PMID:18163151

Tijjani, B M; Borodo, M M; Samaila, A A; Tabari, M; Alhassan, S U

2007-12-01

164

Partially responsive celiac disease resulting from small intestinal bacterial overgrowth and lactose intolerance  

Microsoft Academic Search

BACKGROUND: Celiac disease is a common cause of chronic diarrhea and malabsorption syndrome all over the world. Though it was considered uncommon in India in past, it is being described frequently recently. Some patients with celiac disease do not improve despite gluten free diet (GFD). A study described 15 cases of celiac disease unresponsive to GFD in whom small intestinal

Uday C Ghoshal; Ujjala Ghoshal; Asha Misra; Gourdas Choudhuri

2004-01-01

165

Celiac Disease and Lymphoma Risk: A Multicentric Case–Control Study in Spain  

Microsoft Academic Search

Celiac disease is a highly prevalent condition frequently misdiagnosed because of heterogeneity of the clinical symptoms. It is well recognized that enteropathy-associated T-cell lymphoma is an uncommon lymphoma type linked to celiac disease; it has also been suggested that other types of lymphomas may be associated with celiac disease. Our aim was to estimate the risk of all lymphoma associated

Carme Farré; Eva Domingo-Domenech; Teresa Marques; Alberto Fernandez De Sevilla; Tomas Alvaro; Mercedes Garcia Villanueva; Vicens Romagosa; Silvia De Sanjose

2004-01-01

166

Castleman’s Disease and Mesangial Proliferative Glomerulonephritis: The Role of Interleukin6  

Microsoft Academic Search

Renal complications of Castleman’s disease (angiofollicular lymph node hyperplasia) are uncommon. The reported cases are very heterogeneous and their renal pathology ranged from minimal change disease, mesangial proliferative glomerulonephritis, to amyloidosis. We have previously reported two cases of Castleman’s disease with renal complications. We now present two more such cases. In contrast to other reports, all our cases are of

Sing-Leung Lui; Kwok-Wah Chan; Fu-Keung Li; Ignatius K. P. Cheng; Tak-Mao Chan

1998-01-01

167

Squamous papilloma in the external auditory canal: A common lesion in an uncommon site  

PubMed Central

Squamous papillomas (SPs) are common benign neoplastic lesions, usually affecting the skin, oral mucosa, upper aerodigestive tract and genital organs. However, SPs of the external auditory canal (EAC) are rarely reported in the English literature. In this report, we present a 19-year-old female with left EAC SP. The etiology, natural course, diagnosis and management of this disease are discussed, with a brief review of the literature.

Chang, Ning-Chia; Chien, Chen-Yu; Wu, Chun-Chieh; Chai, Chee-Yin

2013-01-01

168

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

169

Acute post-streptococcal glomerulonephritis in a 14-month-old boy: why is this uncommon?  

PubMed

Acute post-streptococcal glomerulonephritis (APSGN) is rare in children under 2 years of age. This is related in part to the disease patterns of group A streptococcus (GAS) and in part to impaired immunogenicity in infants. We report the case of a 14-month-old child with APSGN following GAS pharyngitis. This case illustrates that APSGN needs to be considered in the evaluation of both gross and microscopic hematuria in this age group. We review the literature of both GAS and APSGN and discuss the pathogenesis and epidemiologic reasons for this association. PMID:17043882

Bingler, Michael A; Ellis, Demetrius; Moritz, Michael L

2007-03-01

170

McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.  

PubMed

Prenatal evaluation of abdominal cystic masses can be complex and challenging. We report the case of a fetus with a large cystic abdominal mass and discuss how the differential diagnosis was narrowed to include McKusick-Kaufman syndrome (MKS). MKS is characterized by the triad of postaxial polydactyly, congenital heart disease, hydrometrocolpos, and genital malformations in males. Rare conditions such as MKS are difficult to diagnose prenatally and require postnatal phenotyping and molecular studies before a definitive diagnosis can be established. PMID:20091696

Slavin, Thomas P; McCandless, Shawn E; Lazebnik, Noam

2010-01-01

171

Undulating tongue in Wilson's disease  

PubMed Central

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

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

2014-01-01

172

Foveal involvement and lack of visual recovery in APMPPE associated with uncommon features.  

PubMed

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is commonly believed to be a benign disease with excellent visual prognosis. Identification of cases with poor visual outcome prompted this retrospective study of 33 eyes of 18 patients with this disorder. Loss of visual acuity at presentation was recorded in 25 eyes (76%), 22 of which had lesions at the fovea. Visual acuity quickly returned to normal or near normal levels (even when it was as poor as counting fingers at entry) in all but 7 eyes of 7 patients, in which visual acuity failed to recover to better than 6/24 over a period of several months. All these eyes had poor acuity and foveal involvement when first seen, and at least one of the following atypical features: age older than 60 years, unilaterality, an interval before involvement of the second eye of at least 6 months, recurrence of the disease, leakage from choroidal vein. One additional patient whose foveae were initially not involved lost vision in one eye because of the development of choroidal neovascularisation. Caution should be exercised in giving a prognosis in cases when the fovea is involved and the acuity markedly reduced, particularly if one or more atypical features is present. PMID:7713249

Pagliarini, S; Piguet, B; Ffytche, T J; Bird, A C

1995-01-01

173

Castleman's Disease of the Porta Hepatis  

PubMed Central

Castleman’s disease is an uncommon cause of lymph node enlargement that mostly involves the mediastinum and lung hilum. It is divided into 2 types: localized, which is usually asymptomatic and presents with a mass lesion; and multicentric, which is characterized by chills, anemia, generalized lymphadenopathy and hepatosplenomegaly. An extrathoracic site of involvement is very uncommon, and may be located in the mesentery of the intestines, axilla, and pelvis. Hepatic localization of this disease is a rare event. Herein, we report our experience with a symptomatic case of Castleman’s disease in the porta hepatis who has been treated successfully by excision of the hilar lymph nodes, but recurred after 2 years with the same clinical picture plus abnormal liver function tests. However, at the time of recurrence ,no lymphadenopathy was detected and liver biopsy showed giant lymphoid follicles with germinal centers. She was treated with steroids and showed a dramatic response.

Geramizadeh, Bita; Fattahi, Mohammad Reza; Bagheri Lankarani, Kamran

2012-01-01

174

Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.  

PubMed

Microtubule-associated protein tau (MAPT) positive neuropathology is the characteristic feature of majority of frontotemporal dementia (FTD) cases, which is due to the mutations or haplotypic variations in the gene encoding MAPT (MAPT). The present study was aimed at determining the frequency of genetic variations in MAPT in a south Indian FTD cohort. The frequency of mutations were determined in 116 FTD, 8 progressive supranuclear palsy (PSP) and 3 corticobasal syndrome (CBS) patients and haplotype diversity were analyzed in a study cohort comprising 116 FTD, 8 PSP, 3 CBS, 194 other dementia groups, 78 mild cognitive impairment (MCI) and 130 cognitively normal individuals and report no pathogenic mutations in FTD/PSP/CBS or haplotypic association with disease risk in FTD or other dementia patients. These findings suggest that there may be other genetic or epigenetic factors contributing to the pathogenesis of FTD in the south Indian population. PMID:24041972

Aswathy, P M; Jairani, P S; Verghese, Joe; Gopala, Srinivas; Mathuranath, P S

2014-02-01

175

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

PubMed Central

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

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

2013-01-01

176

Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.  

PubMed

McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease. PMID:22234204

Krishnamoorthy, Naveen; Santosh, Vani; Yasha, T C; Mahadevan, Anita; Shankar, S K; Jethwani, Dilip; Taly, A B; Bhanu, K; Gayathri, N

2011-01-01

177

Vitamin B 12 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

178

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

179

An uncommon presentation of eosinophilic granulomatosis with polyangiitis: a case report  

PubMed Central

Introduction Eosinophilic granulomatosis with polyangiitis is a rare and potentially fatal disease if not readily diagnosed. Cerebral involvement is extremely rare and clinical presentation as hemorrhagic stroke is even rarer. Case presentation A 58-year-old Caucasian man was admitted to our medical unit because of a computed tomography-diagnosed hemorrhagic stroke with right-sided hemiparesis and fever. A chest computed tomography scan also revealed multiple bilateral pulmonary infiltrates; coronary artery, and carotid and left vertebral artery calcifications were also observed. Empiric antimicrobial therapy with cephalosporins was promptly undertaken; low-molecular-weight heparin was introduced as prophylaxis for venous thromboembolism. Over the following days, magnetic resonance imaging scans showed a regression of the hemorrhagic framework, also revealing hypoxic areas consistent with acute ischemic lesions. With a computed tomography scan showing a worsening of his pulmonary framework, antimicrobial therapy was modified and corticosteroids were introduced. A new blood cell count revealed further increased leukocytosis (17.49×103?L), characterized by a surprising rise of eosinophilic cells (32.8%). Angiography of the coronary arteries found diffuse dilatations with severe signs of endothelial damage. Such an unexpected framework induced a strong suspicion that the stroke was the expression of a systemic vasculitis, which had triggered his cerebral, coronary, and pulmonary frameworks. The search for antineutrophil cytoplasmic antibody was positive for perinuclear antineutrophil cytoplasmic antibody, and eosinophilic granulomatosis with polyangiitis was diagnosed. Explaining to the patient the rarity of his disease, and what the most typical presentations of eosinophilic granulomatosis with polyangiitis were, he revealed that before admission he had had scalp injuries, in the nuchal region, and had taken corticosteroids as self-medication, with subsequent disappearance of the lesions. Therefore, high-dose corticosteroid treatment was started, and at discharge he was in good clinical condition with a slight right-sided hyposthenia. Conclusions A diagnosis of eosinophilic granulomatosis with polyangiitis is often difficult, but we are convinced that intake of corticosteroids on a self-prescribed basis may have obscured the clinical presentation. Therefore, this case also suggests how the growing phenomenon of self-medication can be harmful, and that a careful investigation of clinical history is still an act of paramount importance.

2014-01-01

180

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

181

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

PubMed

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

Khattak, Khanzadi Fatima

2011-07-01

182

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

PubMed Central

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

Maria, Verroiotou; Saad, Al Mogrampi; Fardellas, Ioannis

2013-01-01

183

Spontaneous spleen rupture in a teenager: an uncommon cause of acute abdomen.  

PubMed

Spontaneous spleen rupture is a rare complication of infectious diseases and it can become a potentially life-threatening condition if not diagnosed in time. A 17-year-old Greek female presented to the ER due to acute abdominal pain, mainly of the left upper quadrant. She had no recent report of trauma. The patient was pale, her blood pressure was 90/70?mmHg, and her pulse was 120?b/min. Clinical examination of the abdomen revealed muscle contraction and resistance. The patient was submitted to an ultrasound of the upper abdomen and to a CT scanning of the abdomen that revealed an extended intraperitoneal hemorrhage due to spleen rupture. Due to the patient's hemodynamic instability, she was taken to the operation room and splenectomy was performed. Following a series of laboratory examinations, the patient was diagnosed to be positive for current cytomegalovirus infection. The postoperative course was uneventful, and in a two year follow-up the patient is symptom-free. Spontaneous spleen rupture due to Cytomegalovirus infection is a rare clinical entity, described in few case reports in the world literature and should always be taken into consideration in differential diagnosis of acute abdomen, especially in adolescents with no recent report of trauma. PMID:23710190

Maria, Verroiotou; Saad, Al Mogrampi; Fardellas, Ioannis

2013-01-01

184

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

185

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

PubMed

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

Eun, Heung Kee; Chung, Hee Sup; Yoon, Sang Pil

2014-06-01

186

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

PubMed Central

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

Eun, Heung Kee; Chung, Hee Sup

2014-01-01

187

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

NASA Astrophysics Data System (ADS)

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

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

2012-02-01

188

Putrescine Aminopropyltransferase Is Responsible for Biosynthesis of Spermidine, Spermine, and Multiple Uncommon Polyamines in Osmotic Stress-Tolerant Alfalfa.  

PubMed Central

The biosynthesis of polyamines from the diamine putrescine is not fully understood in higher plants. A putrescine aminopropyltransferase (PAPT) enzyme activity was characterized in alfalfa (Medicago sativa L.). This enzyme activity was highly specific for putrescine as the initial substrate and did not recognize another common diamine, 1,3-diaminopropane, or higher-molecular-weight polyamines such as spermidine and spermine as alternative initial substrates. The enzyme activity was inhibited by a general inhibitor of aminopropyltransferases, 5[prime]-methylthioadenosine, and by a specific inhibitor of PAPTs, cyclohexylammonium sulfate. The initial substrate specificity and inhibition characteristics of the enzyme activity suggested that it is a classical example of a PAPT. However, this enzyme activity yielded multiple polyamine products, which is uncharacteristic of PAPTs. The major reaction product of PAPT activity in alfalfa was spermidine. The next most abundant products of the enzyme reaction using putrescine as the initial substrate included the tetramines spermine and thermospermine. These two tetramines were distinguished by thin-layer chromatography to be distinct reaction products exhibiting differential rates of formation. In addition, the uncommon polyamines homocaldopentamine and homocaldohexamine were tentatively identified as minor enzymatic reaction products but only in extracts prepared from osmotic stresstolerant alfalfa cultivars. PAPT activity from alfalfa was highest in meristematic shoot tip and floral bud tissues and was not detected in older, nonmeristematic tissues. Product inhibition of the enzyme activity was observed after spermidine was added into the in vitro assay for alfalfa PAPT activity. A biosynthetic pathway is proposed that accounts for the characteristics of this PAPT activity and accommodates a novel scheme by which certain uncommon polyamines are produced in plants.

Bagga, S.; Rochford, J.; Klaene, Z.; Kuehn, G. D.; Phillips, G. C.

1997-01-01

189

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

2013-06-01

190

Ultrasound in patients affected with Peyronie’s disease  

Microsoft Academic Search

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

P. Fornara; H.-P. Gerbershagen

2004-01-01

191

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

ERIC Educational Resources Information Center

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

Weingartner, Herbert J.; And Others

1993-01-01

192

Imaging of carotid artery disease: from luminology to function?  

Microsoft Academic Search

There have been tremendous advances in our ability to image atheromatous disease, particularly in the carotid artery, which is accessible and large enough to image. The repertoire of methodology available is growing, giving anatomical information on luminal narrowing which is approaching the level at which conventional carotid angiography will become very uncommon as CT and contrast-enhanced MR angiographic techniques become

J. H. Gillard

2003-01-01

193

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

PubMed

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

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

2014-07-01

194

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

195

Rosai-Dorfman Disease Isolated to the Central Nervous System: A Report of 11 Cases  

Microsoft Academic Search

Sinus histocytosis with massive lymphadenopathy, also known as Rosai-Dorfman Disease (RDD), is an idiopathic histiocytic proliferation affecting lymph nodes. Although extranodal involvement has been reported in diverse sites, central nervous system (CNS) manifestation, particularly in the absence of nodal disease is uncommon. We report 11 cases of RDD primary to the CNS without evidence of other sites of involvement. The

Jo-Ann W. Andriko; Alan Morrison; C. H. Colegial; Brad J. Davis; Robert V. Jones

2001-01-01

196

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

PubMed

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. PMID:3677520

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

1987-10-01

197

Dermatologic disease accounts for a large number of hospital admissions annually  

Microsoft Academic Search

Background: Severe skin disease uncommonly requires hospitalization. The number of patients hospitalized for skin disease annually in the United States has never been reported. Objective: We evaluated the number of patients admitted for skin disorders. Method: Using data from 2 national databases, the Healthcare Cost and Utilization Project-3 Nationwide Inpatient Sample (HCUP-3 NIS) 1992-1994 and Medicare Provider Analysis and Review

Robert S. Kirsner; Doris G. Yang; Francisco A. Kerdel

1999-01-01

198

Four uncommon nanocage-based Ln-MOFs: highly selective luminescent sensing for Cu(2+) ions and selective CO2 capture.  

PubMed

Four uncommon isostructural nanocage-based 3D Ln-MOFs, 1-Ln (Ln = Eu, Tb, Gd and Dy), were constructed using a new diisophthalate ligand with active pyridyl sites. 1-Eu exhibits highly efficient luminescent sensing for Cu(2+) ions and selective CO2 capture. PMID:24963971

Liu, Bo; Wu, Wei-Ping; Hou, Lei; Wang, Yao-Yu

2014-08-14

199

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

NSDL National Science Digital Library

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

Learning, Center F.

2011-09-28

200

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

NSDL National Science Digital Library

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

Learning, Center F.

2011-09-28

201

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

NSDL National Science Digital Library

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

Learning, Center F.

2011-09-28

202

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

ERIC Educational Resources Information Center

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

Dellinger, David W., Ed.

203

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.

204

Sea anemone peptide with uncommon ?-hairpin structure inhibits acid-sensing ion channel 3 (ASIC3) and reveals analgesic activity.  

PubMed

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

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

2013-08-01

205

Ceftaroline activity tested against uncommonly isolated Gram-positive pathogens: report from the SENTRY Antimicrobial Surveillance Program (2008-2011).  

PubMed

Ceftaroline was tested against 1859 clinically significant Gram-positive organisms from uncommonly isolated species. The organisms (31 species/groups) were collected from 133 medical centres worldwide over a 4-year period (2008-2011). Coagulase-negative staphylococci were generally susceptible to ceftaroline, with MIC50 values (minimum inhibitory concentration required to inhibit 50% of the isolates) of 0.06-0.5mg/L. Ceftaroline was active against Micrococcus spp. [minimum inhibitory concentration required to inhibit 90% of the isolates (MIC90)=0.06 mg/L], but showed more limited potency versus some Corynebacterium spp. and Listeria monocytogenes isolates. Ceftaroline was active against all ?-haemolytic streptococci and viridans group streptococcal species/groups listed, with MIC50 and MIC90 values ranging from ? 0.015 mg/L to 0.03 mg/L and from ? 0.015 mg/L to 0.5mg/L, respectively. Based on these in vitro findings, ceftaroline may have a potential role in the treatment of infections caused by these rarer species as guided by reference MIC test results. PMID:24342717

Sader, Helio S; Jones, Ronald N; Stilwell, Matthew G; Flamm, Robert K

2014-03-01

206

Brain Tumours Simulating Psychiatric Disease  

PubMed Central

Brain tumours may present with symptoms indistinguishable from psychiatric disease. The impression of most psychiatrists is that individuals suffering from brain tumour rarely appear among their patients. A priori reasoning based on evidence from neurological, neurosurgical and pathological sources suggests the contrary. The present study is a frequency analysis of cases of previously undiagnosed brain tumours admitted to either an open psychoneurotic ward or a mental hospital over a period of 15 years. The results support the impression held by psychiatrists that brain tumours are uncommon among psychiatric patients.

Hobbs, G. E.

1963-01-01

207

An unusual cause of pancytopenia: Whipple's disease  

PubMed Central

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

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

2014-01-01

208

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.

209

Uncommon pulmonary hamartomas.  

PubMed Central

Three cases are reported--one endobronchial hamartoma, one endobronchial hamartoma accompanied by a similar intrapulmonary lesion, and one multiple hamartoma. These cases typify the clinical presentation and illustrate some of the difficulties in diagnosis and management. The published cases are reviewed. Images

Minasian, H

1977-01-01

210

Uncommon cause of pneumoperitoneum  

PubMed Central

Free intraperitoneal air is thought to be pathognomonic for perforation of a hollow viscus. Here, we present a patient with pain in the upper left quadrant, a mild fever and leukocytosis. Free air was suggested under the left diaphragm but during the explorative laparotomy no signs of gastric or diverticular perforation were seen. Further exploration and revision of the computed tomography revealed a perforated splenic abscess. Splenic abscesses are a rare clinical entity. Presenting symptoms are often non-specific and include upper abdominal pain, recurrent or persistent fever, nausea and vomiting, splenomegaly, leukocytosis and left lower chest abnormalities. Predisposing conditions can be very divergent and include depressed immunosuppressed state, metastatic or contiguous infection, splenic infarction and trauma. Splenic abscess should therefore be considered in a patient with fever, left upper abdominal pain and leukocytosis. Moreover, our case shows that splenic abscess can present in an exceptional way without clear underlying aetiology and should even be considered in the presence of free abdominal air.

van Nunspeet, Laura; Eddes, Eric Hans; de Noo, Mirre E

2013-01-01

211

Complications of diverticular disease of the colon in young people  

Microsoft Academic Search

Diverticular disease of the colon in patients under the age of 40 years is uncommon. Between 1975 and 1985, 58 patients (31\\u000a men and 27 women) were admitted for pathologically or radiographically proven acute diverticulitis. Seventeen (29.3 percent)\\u000a were younger than 40 years. Fifteen of the 17 (88.2 percent) required urgent or emergent surgery for complications of diverticular\\u000a disease. This

Julie Freischlag; Robert S. Bennion; Jesse E. Thompson

1986-01-01

212

Male Zuska's disease.  

PubMed

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

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

2014-01-01

213

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

2013-01-01

214

Primary non-Hodgkin's lymphoma of breast with scalp involvement in follow-up--an uncommon presentation.  

PubMed

Primary non-Hodgkin's lymphoma of the breast is a rare tumour accounting for 0.04 to 0.5% of all malignant breast tumours. The aim of this case presentation is to report such rare entity with an uncommon presentation. A 48-year female presented with rapidly growing firm mass in right breast (upper outer quadrant) and fine needle aspiration cytology (FNAC) was performed for clinical suspicion of breast carcinoma. Cytological examination of smears showed large cells arranged discretely, though occasional small clusters were also seen. The cells had high nuclear-cytoplasm (N-C) ratio and prominent nucleoli. Based on cytomorphology, differential diagnoses of high grade non-Hodgkin's lymphoma and poorly differentiated carcinoma was made. A tru-cut biopsy was suggested for confirmation. Histologic examination revealed diffuse large cells (monomorphic type) with prominent nucleoli.The tumour cells were reactive for CD45, CD20, and negative for cytokeratin, CD30, CD3 and CD5. A histopathologic diagnosis of non-Hodgkin's lymphoma of diffuse large B cell lymphoma type was confirmed. The patient was treated with combined chemotherapy and radiotherapy. After one year, the patient developed a swelling in the scalp and proved to be diffuse large B cell lymphoma by tru-cut biopsy. Now, the patient was treated with chemotherapy alone. Two-year follow-up of the case was uneventful. Since FNAC is initial diagnostic tool for breast lesions, a differential diagnosis of breast lymphoma should always be kept in mind, especially in poorly differentiated malignant tumours. Such cases need to be confirmed by histopathology and immunohistochemistry. PMID:23360046

Mondal, Santosh Kumar; Sengupta, Soumita Ghosh; Bhattacharya, Shibasish; Sinha, Swapan Kumar

2012-06-01

215

Human MCTC type of mast cell granule: the uncommon occurrence of discrete scrolls associated with focal absence of chymase.  

PubMed

Two types of mast cells were previously defined based on neutral protease composition and ultrastructurally distinguished by granule morphology. The MCT cell contains tryptase with little, if any, chymase and was noted to have varying numbers of irregularly-shaped granules with discrete scrolls or particulate or beaded material. The MCTC cell contains both tryptase and chymase and was noted to have more regularly-shaped electron-dense granules with characteristic grating or lattice substructures. This study reports the use of electron microscopy and immunogold staining with antibodies against tryptase and chymase to demonstrate in mature unstimulated MCTC cells in situ, the focal occurrence of discrete or complete scrolls in peripheral regions of certain granules where chymase is deficient. these scrolls often appeared to be protruding from the granule. Granules containing discrete scrolls were observed in 10 of 340 mature MCTC cells, accounting for less than 1% of MCTC granules. Other granules in such cells as well as other regions of the granule under consideration, showed strong staining for both tryptase and chymase. These results strengthen the association of morphology with protease composition in human mast cell secretory granules, but weaken the use of morphology alone to identify the MCTC and MCT types of human mast cells. Whether the uncommon occurrence of focal absence of chymase in MCTC cells arises by chance or as a result of factors relating to mast cell development, interconversion, activation, or regranulation will require further clarification. In conclusion, the appearance of grating or lattice structures in mast cells indicates the presence of chymase and tryptase, characteristic of the MCTC phenotype, whereas multiple discrete scrolls in irregularly shaped granules suggests the MCT phenotype. PMID:2232709

Craig, S S; Schwartz, L B

1990-10-01

216

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

2010-01-01

217

Brief report: Physician awareness of celiac disease  

Microsoft Academic Search

BACKGROUND: Celiac disease is a common disorder (up to 0.7%); however, it is uncommonly diagnosed in the United States.\\u000a \\u000a \\u000a OBJECTIVE: We sought to determine physician awareness of celiac disease.\\u000a \\u000a \\u000a \\u000a \\u000a DESIGN: Surveys completed by 2,440 (47%) of 5,191 patients in a support group were analyzed for frequency of diagnosis by physician\\u000a specialties. Questionnaires were then sent to primary care physicians (PCPs)

Robert D. Zipser; Mary Farid; Donald Baisch; Bhairavi Patel; Devika Patel

2005-01-01

218

Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations  

PubMed Central

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

2014-01-01

219

Rosai-Dorfman disease with diffuse gastrointestinal involvement.  

PubMed

Rosai-Dorfman disease, formerly known as 'sinus histiocytosis with massive lymphadenopathy', is a rare self-limiting histiocytic proliferative disorder typically presenting early in life with cervical lymphadenopathy and nonspecific systemic symptoms. Although it is usually a nodal disease, extranodal lesions may be encountered in some cases. The gastrointestinal tract is uncommonly affected in Rosai-Dorfman disease and its diagnosis depends on clinical suspicion and careful histopathological examination of biopsy samples taken from involved gastrointestinal segments. Here, we report a case of atypical Rosai-Dorfman disease with systemic symptoms and diffuse gastrointestinal involvement that led to a diagnostic and therapeutic challenge. PMID:23510963

Baran, Bulent; Karaca, Cetin; Soyer, Ozlem M; Yonal, Ipek; Isiklar, Aysun D; Cakmak, Ramazan; Nalcaci, Meliha; Dogan, Oner; Kaymakoglu, Sabahattin

2013-07-01

220

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

PubMed Central

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.

Maggard, Reuben; Makary, Raafat; Monteiro, Carmela l.; James, Leighton R.

2013-01-01

221

Glomerulocystic Kidney Disease and its rare associations: an autopsy report of two unrelated cases  

Microsoft Academic Search

BACKGROUND: Glomerulocystic kidney disease is an uncommon type of cystic renal disease. It is characterized by cortical microsysts, which are represented by cystic dilatation of Bowman's spaces. CASE PRESENTATION: We describe a case of glomerulocystic disease in a neonate and another in an abortus associated with tracheo-oesophageal fistula and megacystic-megaureter syndrome. The kidney on autopsy was sponge-like and revealed presence

Kirti Gupta; Mahesha Vankalakunti; Man Sachdeva

2007-01-01

222

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

223

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

224

Symptomatic myocarditis in Kawasaki disease.  

PubMed

Kawasaki disease (KD) is an acute febrile illness of infants and young children that is characterized by a medium vessel vasculitis, most commonly involving the coronary arteries. Though subclinical myocarditis is rather common in KD, symptomatic congestive heart failure is extremely uncommon. The authors report a 9-y-old boy who developed heart failure (ejection fraction 28%) in the acute phase of KD. He was initially treated with intravenous immunoglobulin (2 g/kg) without much clinical improvement. He was then given 5 daily pulses of intravenous methylprednisolone followed by tapering doses of oral prednisolone. The child showed prompt clinical recovery and remains well on follow-up. The present case serves to highlight the fact that methylprednisolone can be considered upfront as rescue therapy in children with KD who have symptomatic congestive cardiac failure during the acute stage of the disease. PMID:21863318

Aggarwal, Pooja; Suri, Deepti; Narula, Nidhi; Manojkumar, Rohit; Singh, Surjit

2012-06-01

225

Cerebral venous thrombosis presenting as a complication of inflammatory bowel disease.  

PubMed

Cerebral venous thrombosis is an uncommon and diverse entity accounting for less than 1% of strokes. It can present with a variety of clinical symptoms ranging from isolated headaches to deep coma making the clinical diagnosis difficult. We present a rare case of cerebral venous thrombosis secondary to dehydration and inflammatory bowel disease. PMID:18629575

Soong, M M; Carroll, A

2010-03-01

226

Clear-cell adenocarcinoma of vesical origin: a case study of metastatic disease treated with chemotherapy.  

PubMed

Vesical clear cell adenocarcinoma is an uncommon tumour. The description of nearly all published cases focuses on histological issues, providing few clinical particulars and limited followup. The treatment choice is resection. No publications have been found regarding systemic treatments for advanced disease. We present a case of metastatic clear cell adenocarcinoma of the bladder treated with chemotherapy. PMID:22482051

Pena Álvarez, Carolina; Lorenzo Lorenzo, Isabel; Varela Ferreiro, Silvia; Pardavila Gómez, Rosa; Suh Oh, Hae Jin; Saénz de Miera Rodríguez, Andrea; Covela Rúa, Marta; Carbonell Luyo, Wilver Federico; García Arroyo, Francisco Ramón; López Clemente, Pedro; Palacios Ozores, Patricia; Constenla Figueiras, Manuel

2010-01-01

227

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

228

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

PubMed

Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma. PMID:24732613

Kumar, Bhupesh; Raj, Ravi; Jayant, Aveek; Kuthe, Sachin

2014-01-01

229

Bacteroides fragilis endocarditis in a patient with Crohn's disease.  

PubMed

Bacteroides fragilis is an uncommon cause of endocarditis and its occurrence in Crohn's disease has never been reported. We present a case of a B fragilis bacteraemia and endocarditis caused by seeding of left ventricular thrombus formed secondary to severe left ventricular dysfunction. A 44-years-old man with a history of persistent bloody diarrhoea for many years presented with 1-month duration of generalised weakness, malaise, fever and chills. The patient also developed right foot pain associated with cyanotic discolouration. On examination, he was cachectic and his right foot was pulseless, cold and blue in colour. Echocardiogram showed three intraventricular echo densities. Colonoscopy revealed multiple fistulous openings and blood cultures grew B fragilis. He was treated with intravenous metronidazole and underwent a proctocolectomy with ileostomy. Biopsy of the specimen confirmed Crohn's disease. This case emphasises the importance of identifying anaerobic bacteria as an uncommon but important cause of endocarditis and recognise likely source. PMID:23605837

Singh, Shailendra; Goyal, Vishal; Padhi, Parikshit; Aoun, Elie

2013-01-01

230

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

PubMed

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

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

2010-03-12

231

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

232

Restrictive lung disease in pregnancy.  

PubMed

Restrictive lung disease is uncommon in pregnancy. We reviewed 15 pregnancies in 12 women with restrictive disease due to kyphoscoliosis, neuromuscular disease, or parenchymal lung disease. Median FVC was 40% predicted, and six women (50%) had an FVC < 1.0 L. In the 14 pregnancies in which at least two spirometry readings were available, FVC increased in three pregnancies, decreased in three, and remained stable in eight, with maximal changes of 0.4 L. Three women required supplemental oxygen, and one woman with neuromuscular disease required noninvasive ventilation. Premature delivery occurred in nine pregnancies (60%), and 10 deliveries (67%) were by cesarean section. Neuraxial anesthesia was used in 10 of 15 deliveries but was limited in the others by difficult spinal anatomy. There was no maternal or neonatal mortality. Women with restrictive lung disease tolerate pregnancy reasonably well, but many have premature delivery. A multidisciplinary approach is essential, with monitoring of spirometry and oxygenation and planning for labor and delivery. PMID:24493511

Lapinsky, Stephen E; Tram, Carolyn; Mehta, Sangeeta; Maxwell, Cynthia V

2014-02-01

233

Salter-Harris type III fracture of the lateral femoral condyle with a ruptured posterior cruciate ligament: an uncommon injury pattern.  

PubMed

We report a case of an obscure injury to the distal femoral epiphysis with an uncommon pattern in a 12-year-old boy following a road traffic accident. Initial plain radiographs of the knee were inconclusive. Further investigation with magnetic resonance imaging revealed Salter-Harris type III fracture of the lateral femoral condyle with a gap at the fracture site associated with avulsion of the posterior cruciate ligament. This potentially serious injury can be underestimated on plain radiographs and therefore any suspected injury to the distal femoral epiphysis should be thoroughly assessed and investigated to institute appropriate treatment and minimise the risk of long-term complications. PMID:16937138

Rafee, Asan; Kumar, A; Shah, S V

2007-01-01

234

Chronic graft-versus-host disease complicated by nephrotic syndrome  

Microsoft Academic Search

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

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

2011-01-01

235

Cutaneous metastases presenting as genital ulcer disease  

PubMed Central

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

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

2014-01-01

236

Laryngeal disease in dogs and cats.  

PubMed

The most common disease process involving the larynx is laryngeal paralysis, which occurs much more frequently in dogs than in cats. Diagnosis of laryngeal paralysis requires close attention to anesthetic plane and coordination of respiratory effort with laryngeal motion. Surgical arytenoid lateralization improves respiration and quality of life in dogs with laryngeal paralysis; however, aspiration pneumonia is a recognized complication, and generalized neuropathy can progress. Laryngeal collapse can result from any cause of chronic upper airway obstruction, but is most often associated with unaddressed brachycephalic airway syndrome. Laryngeal neoplasia, while generally uncommon, occurs more frequently in cats than in dogs. PMID:24268331

Macphail, Catriona

2014-01-01

237

Malignant degeneration of multilevel monostotic Paget's disease involving the thoracic spine: an unusual presentation.  

PubMed

Paget's disease is the second most common metabolic bone disease after osteoporosis and is characterized by abnormal bone turnover and remodeling that can lead to pain, pathological fracture, bony deformity and nerve compression syndromes. The lumbar region is the most commonly affected site within the spine followed by the thoracic and cervical spine. Even though the spine is affected very commonly in Paget's disease, malignant degeneration is exceptionally rare. Multilevel monostotic spine involvement due to Paget's disease is very uncommon. An unusual clinico-radiological manifestation of multilevel thoracic Paget's disease with sarcomatous degeneration presenting as a neurosurgical emergency is reported with a pertinent review of the literature. PMID:24411323

Tan, Lee A; Kasliwal, Manish K; Harbhajanka, Aparna; Miller, Ira J; Deutsch, Harel

2014-07-01

238

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

239

Castleman's disease in the left suprarenal region, mimicking an adrenal neoplasm.  

PubMed

We present a rare case of a 16-year-old male patient with Castleman's disease (CD) manifest by a suspicious mass within the left suprarenal region abutting the left adrenal gland, mimicking an adrenal neoplasm. CD is an uncommon and poorly understood lymphoproliferative disorder that, when observed, typically occurs as a mediastinal mass. Two percent of cases reportedly occur in the pararenal region. Although rare, Castleman's disease should be considered in the differential diagnosis of a retroperitoneal mass. PMID:21316092

Santomauro, Michael; Choe, Chong; Heimbigner, Jared; Roberts, John; Auge, Brian

2011-08-01

240

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

241

Parkinson's Disease  

MedlinePLUS

Parkinson’s Disease Introduction Parkinson’s disease is a common disease that affects muscle control. Parkinson’s disease affects about half a million people every year. The symptoms of Parkinson’s disease are easily treated. This ...

242

[Goodpasture's disease: a case series].  

PubMed

Goodpasture's disease (GD) is an uncommon and severe autoimmune disorder caused by circulating autoantibodies directed against the glomerular basement membrane cross-reacting with the alveolar basement membrane. GD is clinically characterized by rapidly progressive glomerulonephritis, often associated with pulmonary hemorrhage representing a nephrological emergency. We present the clinical features of 9 cases, diagnosed in 1997-2012, in our Renal Unit. Contrary to previous reports, we found a predominance of GD in females and we observed unusual clinical patterns, such as the association with renal vein thrombosis in a pregnant patient, thrombosis of the pulmonary arteries and a late isolated recurrence of alveolitis. In dialysis-dependent patients, renal transplantation can represent an available treatment option. PMID:24671842

Dugo, Mauro; Pasi, Alessandra; Gatti, Pier Luigi; Mastrosimone, Stefania; Laurino, Licia; Barberio, Giuseppina; Farneti, Fabrizio; Facchini, Cesarina; Maresca, Maria

2014-01-01

243

Vedolizumab for the treatment of ulcerative colitis and Crohn's disease  

PubMed Central

Crohn’s disease and ulcerative colitis are chronic, relapsing inflammatory disorders of the GI tract. In both Crohn’s disease and ulcerative colitis, leukocytic infiltration of the mucosa is associated with epithelial damage. Recently, monoclonal antibodies directed against cell adhesion molecules (CAMs) involved in leukocyte extravasation have been developed. Natalizumab, the first drug brought to market targeting CAMs, is clinically effective but is associated with serious adverse effects including the uncommon, but often fatal, neurological disease progressive multifocal leukoencephalopathy. Vedolizumab targets a subset of the CAMs blocked by natalizumab and is currently in Phase III trials to study its efficacy and safety in patients with inflammatory bowel disease. Here, we discuss the current treatment options available for patients with Crohn’s disease or ulcerative colitis, the history of CAM inhibitors, the current state of development of vedolizumab and its future role in inflammatory bowel disease, if approved by regulatory agencies.

McLean, Leon P; Shea-Donohue, Terez; Cross, Raymond K

2013-01-01

244

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

245

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

NASA Astrophysics Data System (ADS)

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

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

2014-01-01

246

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

PubMed Central

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

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

2014-01-01

247

Parkinson's Disease  

MedlinePLUS

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

248

Impressions of eye diseases among Rhodesian Blacks in Mashonaland.  

PubMed

A study of ophthalmic patients at Harari Hospital indicates that Rhodesian Blacks in Mashonaland constitute a population with interesting ophthalmic features. There is a low incidence of refractive error, with a total incidence of 8,5% of myopia in adults. Functional concomitant squint is uncommon, with an incidence of 0,8% in children under 15 years of age. Non-traumatic, idiopathic primary retinal detachments occur rarely, while secondary retinal detachments occur with low frequency (about 0,55 per 100 000 population per year). Acute and painful congestive angle closure glaucoma is not seen, although chronic angle closure glaucoma is sometimes encountered. Hypertensive retinopathy is not infrequently seen, while diabetic retinopathy is uncommon. Visual loss and blindness from corneal disease are wide-spread. The population has a remarkably low incidence of senile macular degeneration (1,13% of adults over 65 years of age). PMID:897935

Chumbley, L C

1977-08-13

249

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

2010-12-15

250

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

PubMed Central

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

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

2014-01-01

251

Type A aortic dissection with cold agglutinin disease.  

PubMed

Cold agglutinin disease is an uncommon condition characterized by hemagglutination and microvascular thrombosis of red blood cells at low temperatures during cardiopulmonary bypass. We report the rare case of an ambulatory 74-year-old woman with a relatively high thermal amplitude for antibody activation. We performed aortic arch repair for type A aortic dissection using moderately hypothermic cardiopulmonary bypass and warm blood cardioplegia in a retrograde manner. This case report provides evidence that these are safe and suitable techniques for selected aortic arch repair patients with cold agglutinin disease. PMID:21801929

Osada, Hiroaki; Nakajima, Hiroyuki; Shimizu, Atsushi; Nagasawa, Atsushi; Ogino, Hitoshi

2011-08-01

252

Tickborne Diseases  

MedlinePLUS

... this page Order publications Additional Information From NIAID Lyme Disease and Other Tickborne Diseases News Releases Vector Biology ... Types of Tickborne Diseases Babesiosis Ehrlichiosis and Anaplasmosis Lyme Disease Relapsing Fever Rocky Mountain Spotted Fever Tularemia Understanding ...

253

Fabry's Disease  

MedlinePLUS

NINDS Fabry Disease Information Page Table of Contents (click to jump to sections) What is Fabry Disease? Is there any ... is being done? Clinical Trials Organizations What is Fabry Disease? Fabry disease is caused by the lack of ...

254

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 ... Trials Organizations Additional resources from MedlinePlus What is Behcet's Disease? Behcet's disease is a rare, chronic inflammatory ...

255

Crohn's Disease.  

National Technical Information Service (NTIS)

Contents: What Are the Symptoms; What Causes Crohn's Disease and Who Gets It; How Does Crohn's Disease Affect Children; How is Crohn's Disease Diagnosed; What Is the Treatment; Can Diet Control Crohn's Disease; What Are the Complications of Crohn's Diseas...

1992-01-01

256

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

257

Ribbing disease  

PubMed Central

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

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

2010-01-01

258

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

259

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

PubMed Central

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.

Chang, Youn Hyuk

2013-01-01

260

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

2013-03-01

261

Diseases of the respiratory tract of chelonians.  

PubMed

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

Origgi, F C; Jacobson, E R

2000-05-01

262

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

PubMed Central

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

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

2014-01-01

263

Menkes Disease  

MedlinePLUS

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

264

Lyme Disease  

MedlinePLUS

newsletter | contact Share | Lyme Disease Teen information A A A A pink, ring-like, slightly raised rash that expands outward is a classic sign of Lyme disease. Overview Lyme disease is the result of infection ...

265

Lyme Disease  

MedlinePLUS

... JavaScript on. Read more information on enabling JavaScript. Lyme Disease Top Banner Content Area Skip Content Marketing Share this: Main Content Area Understanding Lyme Disease A History of Lyme Disease, Symptoms, Diagnosis, Treatment ...

266

Lyme Disease  

MedlinePLUS

... well as the northern midwestern states. What Is Lyme Disease? Lyme disease is caused by the bacterium Borrelia ... swollen joint, or facial paralysis. Can I Prevent Lyme Disease? There's no surefire way to avoid getting Lyme ...

267

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 ...

268

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

269

Uncommon, undeclared oesophageal foreign bodies.  

PubMed

We report two cases of unusual and undeclared oesophageal foreign bodies. A small double-rounded calabash or bottle gourd Lagenaria siceraria, stuffed with traditional medicine designed to acquire spiritual power. A whole tricotyledonous kola nut Cola nitida also designed to make medicine to gain love from a woman after passing it out in stool. Each case presented with a sudden onset of total dysphagia and history of ingestion of foreign bodies was not volunteered by any despite direct questioning. Plain radiograph of the neck and chest in either case did not reveal presence of foreign body. Both were successfully removed through rigid oesophagoscopy. PMID:22718184

Akenroye, M I; Osukoya, A T

2012-01-01

270

Uncommon upper extremity compression neuropathies.  

PubMed

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

Knutsen, Elisa J; Calfee, Ryan P

2013-08-01

271

An uncommonly common: Glossopharyngeal neuralgia  

PubMed Central

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

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

2013-01-01

272

Uncommon form of pancreas divisum  

Microsoft Academic Search

Summary  A rare form of pancreas divisum is presented, in which the two ducts communicate despite their separate development. In such\\u000a cases cannulation of the papilla of Vater is sufficient for visualization of both the ventral and dorsal pancreatic ducts.\\u000a The two ducts are probably linked by secondary branches.

Z. Tulassay; J. Papp

1983-01-01

273

Uncommon presentations of thyroid carcinoma.  

PubMed

The most common presentation for carcinoma of the thyroid is as a cold nodule in the thyroid gland. Other appearances for thyroid carcinoma do exist, however; two such examples are presented. Incidence and presentation of thyroid carcinoma is discussed, as are guidelines for detecting patients that have a higher than average incidence of thyroid malignancy. PMID:3791789

Bartold, K P; Abghari, R; Sangi, V B

1986-11-01

274

Kaposiform hemangioendothelioma associated with milroy’s disease (primary hereditary lymphedema)  

Microsoft Academic Search

Kaposiform infantile hemangioendothelioma (KHE) is a rare recently characterized, locally aggressive, endothelial-derived neoplasm that occurs exclusively in the pediatric age group. Milroy-Nonne disease (primary hereditary lymphedema) is an uncommon congenital entity with familiar history of lower limb edema as typical clinical features. An 8-year-old boy developed a hard painless mass in the right leg 7 years after the diagnosis of

Roberto Méndez; Ana Capdevila; Manuel G Tellado; Iván Somoza; Jorge Liras; Ernesto Pais; Diego Vela

2003-01-01

275

Paget’s disease of the breast: a 33-year experience  

Microsoft Academic Search

Background: Paget’s disease (PD) of the breast is an uncommon condition traditionally treated with mastectomy. To assess the natural history and treatment options in PD we have reviewed the experience at the Roswell Park Cancer Institute (RPCI).Study Design: The medical records of patients treated for PD at RPCI between 1963 and 1996 were reviewed.Results: Eighty patients were treated in the

Daniel R Kollmorgen; Jay S Varanasi; Stephen B Edge; William E Carson

1998-01-01

276

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

277

Association of hepatic vein obstruction and coeliac disease in North African subjects.  

PubMed

This study describes three adults with coeliac disease and hepatic vein obstruction, an association which has not been reported so far. Similarities were found with the cases of five children with Budd-Chiari syndrome and intestinal villous atrophy recently reported in the literature. All subjects had North African origin. Coeliac disease and Budd-Chiari syndrome are uncommon conditions, and it is postulated that this is probably not a chance association, although no link between these diseases and the ethnic origin of the subjects could be elucidated. PMID:8071543

Marteau, P; Cadranel, J F; Messing, B; Gargot, D; Valla, D; Rambaud, J C

1994-05-01

278

Current Status of Therapy in Autoimmune Liver Disease  

PubMed Central

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

Al-Harthi, Nadya; Heathcote, E. Jenny

2009-01-01

279

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

2012-03-01

280

Crohn's Disease  

MedlinePLUS Videos and Cool Tools

... Crohn's disease is one of the 2 most common inflammatory bowel diseases or IBD. The other one is ulcerative colitis. ... Crohn's disease affects small children, too. The most common symptoms of Crohn's Disease are pain in the lower right abdomen and ...

281

Isavuconazole and Nine Comparator Antifungal Susceptibility Profiles for Common and Uncommon Candida Species Collected in 2012: Application of New CLSI Clinical Breakpoints and Epidemiological Cutoff Values.  

PubMed

The in vitro activity of isavuconazole and nine antifungal comparator agents was assessed using reference broth microdilution methods against 1,421 common and uncommon species of Candida from a 2012 global survey. Isolates were identified using CHROMagar, biochemical methods and sequencing of ITS and/or 28S regions. Candida spp. were classified as either susceptible or resistant and as wild type (WT) or non-WT using CLSI clinical breakpoints or epidemiological cutoff values, respectively, for the antifungal agents. Isolates included 1,421 organisms from 21 different species of Candida. Among Candida spp., resistance to all 10 tested antifungal agents was low (0.0-7.9 %). The vast majority of each species of Candida, with the exception of Candida glabrata, Candida krusei, and Candida guilliermondii (modal MICs of 0.5 µg/ml), were inhibited by ?0.12 µg/ml of isavuconazole (99.0 %; range 94.3 % [Candida tropicalis] to 100.0 % [Candida lusitaniae and Candida dubliniensis]). C. glabrata, C. krusei, and C. guilliermondii were largely inhibited by ?1 µg/ml of isavuconazole (89.7, 96.9 and 92.8 %, respectively). Decreased susceptibility to isavuconazole was most prominent with C. glabrata where the modal MIC for isavuconazole was 0.5 µg/ml for those strains that were SDD to fluconazole or WT to voriconazole, and was 4 µg/ml for those that were either resistant or non-WT to fluconazole or voriconazole, respectively. In conclusion, these data document the activity of isavuconazole and generally the low resistance levels to the available antifungal agents in a large, contemporary (2012), global collection of molecularly characterized species of Candida. PMID:24952015

Castanheira, Mariana; Messer, Shawn A; Rhomberg, Paul R; Dietrich, Rachel R; Jones, Ronald N; Pfaller, Michael A

2014-08-01

282

Hypoplastic coronary artery disease: report of one case  

PubMed Central

Hypoplastic coronary artery disease (HCAD) is a rare abnormality with a high rate of sudden death and poor outcome. HCAD was revealed by myocardial infarction in a teenager with objective evidence of silent ischaemia on myocardial scintigraphy. After four years of follow up, he suddenly collapsed during exercise and subsequently died. Although HCAD is very uncommon, it should be actively excluded in children and young adults who experience sudden cardiac death. Aggressive treatment such as implantable cardioverter-defibrillator or heart transplantation may be indicated for this rare coronary abnormality.

Amabile, N; Fraisse, A; Quilici, J

2005-01-01

283

Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema).  

PubMed

Kaposiform infantile hemangioendothelioma (KHE) is a rare recently characterized, locally aggressive, endothelial-derived neoplasm that occurs exclusively in the pediatric age group. Milroy-Nonne disease (primary hereditary lymphedema) is an uncommon congenital entity with familiar history of lower limb edema as typical clinical features. An 8-year-old boy developed a hard painless mass in the right leg 7 years after the diagnosis of congenital primary lymphedema of the right lower extremity. Histopathological analysis of the tumor showed the typical findings of the KHE. To our knowledge this is the first reported case of a KHE engrafting on this infrequent benign lymphatic anomaly. PMID:12861592

Méndez, Roberto; Capdevila, Ana; Tellado, Manuel G; Somoza, Iván; Liras, Jorge; Pais, Ernesto; Vela, Diego

2003-07-01

284

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

2012-04-01

285

Epidemiology of Gallbladder Disease: Cholelithiasis and Cancer  

PubMed Central

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.

Stinton, Laura M.

2012-01-01

286

Huntington's Disease  

MedlinePLUS

Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born ... t appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. ...

287

Huntington disease  

MedlinePLUS

Huntington disease is a disorder in which nerve cells in certain parts of the brain waste away, or ... Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of DNA, ...

288

Gorham's disease.  

PubMed

Gorham's disease is a rare disorder characterised by proliferation of vascular channels that result in destruction and resorption of osseous matrix. A case of Gorham's disease presenting as chylothorax and osteolysis of ribs is presented. PMID:24968562

Jayaprakash, B; Prajeesh, B; Nair, Deepa S

2013-12-01

289

Hartnup Disease.  

National Technical Information Service (NTIS)

Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical abnormalities. A family is described in which three siblings had an intermittently progressive neurological disease and two of the affect...

A. J. Tahmoush D. H. Alpers R. D. Feigin V. Armbrustmacher A. L. Prensky

1976-01-01

290

Heart Disease  

MedlinePLUS

... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ...

291

Lyme disease  

MedlinePLUS

Lyme disease is a bacterial infection that is spread through the bite of one of several types of ... Lyme disease is caused by bacteria called Borrelia burgdorferi ( B. burgdorferi) . Blacklegged ticks and other species of ticks ...

292

Lyme Disease  

MedlinePLUS

Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom ... Muscle and joint aches A stiff neck Fatigue Lyme disease can be hard to diagnose because you may ...

293

Wilson Disease  

MedlinePLUS

... most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis ...

294

Legionnaire disease  

MedlinePLUS

Legionnaire disease is an infection of the lungs and airways caused by Legionella bacteria. ... The bacteria that cause Legionnaire disease have been found in ... the warm, moist, air conditioning systems of large buildings, ...

295

Celiac Disease  

MedlinePLUS

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

296

Autoimmune Diseases  

MedlinePLUS

... A disease in which people can't tolerate gluten, a substance found in wheat, rye, and barley, ... disease eat foods or use products that have gluten, the immune system responds by damaging the lining ...

297

Autoimmune diseases  

Microsoft Academic Search

Experimental models of autoimmune disease have been used to dissect the mechanisms of disease pathogenesis in the corresponding\\u000a human diseases. This chapter will deal with experimental autoimmune encephalomyelitis (EAE) as a model for human multiple\\u000a sclerosis (MS) and experimental autoimmune diabetes (EAD) in the NOD mouse as a model for human diabetes. In the case of these\\u000a tissue-specific autoimmune diseases,

William J. Karpus

298

Autoimmune Diseases  

MedlinePLUS

... of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - ... a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may ...

299

Wilson Disease  

Microsoft Academic Search

Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues. The hallmarks of the disease are the presence of liver disease, neurologic symptoms, and Kayser–Fleischer corneal rings. The leading neurologic symptoms in WD are dysathria, dyspraxia, ataxia, and Parkinsonian-like extrapyramidal signs. Changes in the basal ganglia in

Reinhard Kitzberger; Christian Madl; Peter Ferenci

2005-01-01

300

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

301

Fabry Disease  

Microsoft Academic Search

INTRODUCTIONFabry disease, also known as Anderson–Fabry disease, is an X-linked inborn error of metabolism caused by deficiency of the lysosomal enzyme ?-galactosidase A, the gene for which is localized at Xq22. It is the second most common lysosomal storage disorder (after Gaucher disease). Birth frequency estimates range from 1 : 20 000 to 1 : 100 000. As a consequence

Lionel Ginsberg; Alan Valentine; Atul Mehta

2005-01-01

302

Hodgkin Disease  

MedlinePLUS

... Night sweats Weight loss Loss of appetite Itchy skin To diagnose Hodgkin disease, doctors use a physical exam and history, blood tests, and a biopsy. Treatment depends on how far the disease has spread. It often includes radiation therapy or chemotherapy. The earlier the disease is diagnosed, ...

303

Lyme Disease  

MedlinePLUS

newsletter | contact Share | Lyme Disease A parent's guide to condition and treatment information A A A Lyme disease may simply be displayed as a subtle area ... rather than the classic bull's-eye rash. Overview Lyme disease is the result of infection with the bacteria ...

304

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 public…

Taylor, George C.

1991-01-01

305

Lyme Disease  

MedlinePLUS

newsletter | contact Share | Lyme Disease Information for adults A A A Lyme disease frequently presents as a red or pink circle that is short- ... rash is noticed by the person affected. Overview Lyme disease is the result of infection with the bacteria ...

306

Fifth Disease  

MedlinePLUS

... are the symptoms of fifth disease? The most common symptom of fifth disease is a bright red raised rash that appears ... 5 to 7 years old. It is most common in the spring. Adults who haven’t had fifth disease before can catch it, but many adults have ...

307

Autoinflammatory Diseases  

MedlinePLUS

... treatment, a synthetic form of human IL-1Ra. Behçet’s Disease Behçet’s disease causes canker sores or ulcers in the ... of the digestive tract, brain, and spinal cord. Behçet’s disease is common in the Middle East, Asia, ...

308

Surgical management of upper gastrointestinal and small bowel Crohn's disease.  

PubMed

Burill Crohn's convincing description of the disease that now carries his name conceived of the illness as arising exclusively from the terminal ileum, involving other sites only secondarily. As a result, he took the condition to be curable by an adequate operative resection. The current concept is that Crohn's disease may affect any segment of the gastrointestinal tract. The practical implication of this change in thinking is the need to conserve bowel when weighing medical and surgical options for each child. Operations should be used to treat complications of the disease. Absolute indications for the surgery are uncommon and include perforation, bleeding, and refractory obstruction. The margins of resection need only include a short amount of grossly normal intestine. Strictureplasty to relieve obstruction without resection should be done when applicable. Maintenance medication after an operation to limit recurrence or recrudescence is frequently advocated. PMID:17602972

Dolgin, Stephen E

2007-08-01

309

Cole Disease Results from Mutations in ENPP1  

PubMed Central

The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct sequencing, we showed complete cosegregation of the disease phenotype with three heterozygous ENPP1 mutations in three unrelated families. All mutations were found to affect cysteine residues in the somatomedin-B-like 2 (SMB2) domain in the encoded protein, which has been implicated in insulin signaling. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which is responsible for the generation of inorganic pyrophosphate, a natural inhibitor of mineralization. Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases.

Eytan, Ori; Morice-Picard, Fanny; Sarig, Ofer; Ezzedine, Khaled; Isakov, Ofer; Li, Qiaoli; Ishida-Yamamoto, Akemi; Shomron, Noam; Goldsmith, Tomer; Fuchs-Telem, Dana; Adir, Noam; Uitto, Jouni; Orlow, Seth J.; Taieb, Alain; Sprecher, Eli

2013-01-01

310

Introducing polyautoimmunity: secondary autoimmune diseases no longer exist.  

PubMed

Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS). We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%). Autoimmune thyroid disease (AITD) and Sjögren's syndrome (SS) were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006-September 2011). There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases. PMID:22454759

Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Rubén D; Anaya, Juan-Manuel

2012-01-01

311

Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist  

PubMed Central

Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS). We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%). Autoimmune thyroid disease (AITD) and Sjögren's syndrome (SS) were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006–September 2011). There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases.

Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Ruben D.; Anaya, Juan-Manuel

2012-01-01

312

Addison's disease  

PubMed Central

Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening crisis. In this case, several oral as well as systemic manifestation of the Addison's disease was encountered.

Sarkar, Soumya Brata; Sarkar, Subrata; Ghosh, Supratim; Bandyopadhyay, Subhankar

2012-01-01

313

[Cat-scratch disease and bacillary angiomatosis. An old and a new infectious disease with common etiology?].  

PubMed

A review of cat-scratch disease (CSD) and bacillary angiomatosis (BA) is presented on the basis of published articles. Two newly identified bacteria--Rochalimaea henselae and Afipia felis--have been isolated from patients with CSD. Preliminary investigations seem to indicate that A. felis is an uncommon cause of the disease. CSD may appear as a local suppurative lymphadenopathy or a systemic infection. BA is caused by Rochalimaea species and may appear as cutaneous, mucous or visceral angiomas or bacteremia. It may be a special manifestation of CSD in immunocompromised patients. A description is given of the various pathological pictures and differential diagnosis, and an evaluation is made of the different diagnostic methods, namely visualisation of bacteria in the lesions with Warthin-Starry's silver impregnation, isolation of bacteria, demonstration of bacteria with gene technique and detection of antibodies. The treatment of the disease is discussed. PMID:7998352

Engbaek, K; Frederiksen, W

1994-10-17

314

Trinucleotide repeat expansion and neuropsychiatric disease.  

PubMed

Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and the length becomes unstable. During the past decade, nearly 20 diseases-including Huntington disease, 2 forms of the fragile X syndrome, and myotonic dystrophy-caused by trinucleotide repeat expansions have been identified. The unstable nature of the expanded repeat leads to remarkable patterns of inheritance in these diseases, distinctly at odds with traditional notions of mendelian genetics. We review the clinical and genetic features of these disorders, with a particular emphasis on their psychiatric manifestations. We also critically examine the hypothesis that expansion mutations may have an etiologic role in psychiatric diseases such as bipolar disorder, schizophrenia, and autism. PMID:10565502

Margolis, R L; McInnis, M G; Rosenblatt, A; Ross, C A

1999-11-01

315

Radiographic and clinical sequelae of the duodenocolic anatomic relationship: Two cases of Crohn's disease with fistulization to the duodenum  

Microsoft Academic Search

Summary  The posterior surface of the proximal transverse colon and the anterior surface of the descending duodenum are intimately\\u000a related. The clinical importance of this apposition is re-emphasized with presentation of two cases which had the uncommon\\u000a phenomenon of benign duodenocolic fistula. These two rare cases of duodenocolic fistulas secondary to Crohn's disease are\\u000a added to the literature. It is also

Theodore R. Smith; Ralph R. Goldin

1977-01-01

316

Can Treatment for Polycystic Ovarian Disease Induce Ovarian Tumour? A Case Report  

PubMed Central

Polycystic ovarian disease in adolescents is not uncommon. Usually underlying ovarian tumours can cause hirsutism and ovulation. A 15-year-old girl presented with infrequent cycles and hirsutism. Her baseline evaluation ruled out ovarian tumour and other endocrinological problems. She was treated with insulin sensitizers and hormone treatment. After more than a year of treatment she developed a large ovarian tumour which turned out to be a juvenile granulose cell tumour at laparotomy a year after treatment with insulin sensitizers. The authors recommend continued surveillance of ovaries of adolescent girls undergoing treatment for polycystic ovarian disease to monitor for formation of ovarian tumours.

Dorairajan, Gowri; Bindu, N. Hima; Bhat, Ramachandra V

2014-01-01

317

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

318

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

319

Uncommon coordination behaviour of P(S) and P(Se) units when bonded to carboranyl clusters: experimental and computational studies on the oxidation of carboranyl phosphine ligands.  

PubMed

Oxidation of closo-carboranyl diphosphines 1,2-(PR(2))(2)-1,2-closo-C(2)B(10)H(10) (R=Ph, iPr) and closo-carboranyl monophosphines 1-PR(2)-2-R'-1,2-closo-C(2)B(10)H(10) (R=Ph, iPr, Cy; R'=Me, Ph) with hydrogen peroxide, sulfur and elemental black selenium evidences the unique capacity of the closo-carborane cluster to produce uncommon or unprecedented P/P(E) (E=S, Se) and P=O/P=S chelating ligands. When H(2)O(2) reacts with 1,2-(PR(2))(2)-1,2-closo-C(2)B(10)H(10) (R=Ph, iPr), they are oxidized to 1,2-(OPR(2))(2)-1,2-closo-C(2)B(10)H(10) (R=Ph, iPr). However, when S and Se are used, different reactivity is found for 1,2-(PPh(2))(2)-1,2-closo-C(2)B(10)H(10) and 1,2-(PiPr(2))(2)-1,2-closo-C(2)B(10)H(10). The reaction with sulfur produces mono- and dioxidation products for R=Ph, whereas Se produces the mono-oxidation product only. For R=iPr, only monooxidation takes place with S, and the second C(c)-PiPr(2) bond breaks to yield 1-SPiPr(2)-1,2-closo-C(2)B(10)H(11). When Se is used, only 1-SePiPr(2)-1,2-closo-C(2)B(10)H(11) is formed. The potential of the mono-chalcogenide carboranyl diphosphines 1-EPPh(2)-2-PPh(2)-1,2-closo-C(2)B(10)H(10) (E=S, 9; Se, 15) to behave as unsymmetric chelating bidentate ligands was studied for different metal complexes, different solvents and in the solid state. Dechalcogenation takes place in each case. Computational studies provided information on the P=E (E=S, Se) bonds. Steric effects block the bonding ability of the P=E group due to interactions between the chalcogen and the neighbouring hydrogen atoms (three from the phenyl rings and one from the carborane cluster). The electronic effects originate from the strongly electron-withdrawing character of the closo carborane cluster, which polarizes the P=E (E=S, Se) bond towards the phosphorus atom. As a consequence, the E atom is the electron-poor site and the P atom the electron-rich site in the P=E bond. PMID:21387432

Popescu, Adrian-Radu; Laromaine, Anna; Teixidor, Francesc; Sillanpää, Reijo; Kivekäs, Raikko; Llambias, Joan Ignasi; Viñas, Clara

2011-04-11

320

Borna disease.  

PubMed

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

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

1997-01-01

321

Lyme Disease  

NSDL National Science Digital Library

A little microorganism called a spirochete causes Lyme disease, which can cause extremely severe symptoms, including neck stiffness, acute headaches, neurological damage, and rheumatoid arthritis-like problems. Lyme disease is transmitted by ticks and so is tied to the ticks' life cycle. Lyme disease is also seen by veterinarians, largely in dogs, for whom it can be fatal. Lyme research is ongoing on numerous fronts.

Dr. Leslie Nader (MSMR)

1992-04-14

322

[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

323

Hodgkin's disease  

SciTech Connect

The outlook for patients with Hodgkin's disease has improved dramatically over the past 20 years. The question is no longer whether cure is possible, but rather, how can cure be best achieved. With better understanding of the biology of Hodgkin's disease and with continued evolution of treatment approaches, the goal of curing all patients with Hodgkin's disease is clearly within reach. This article provides a summary of current concepts in the biology and management of Hodgkin's disease. Staging, treatment options, and complications of therapy are discussed.

Portlock, C.S.

1984-05-01

324

[Wilson's disease].  

PubMed

Wilson's disease is a disorder of the liver's copper metabolism. Accumulation of copper causes liver and central nervous system damage. Wilson's disease should always be suspected, when a liver disease is detected in a child or an adolescent. The disease may also manifest itself as severe neurological or neuropsychiatric disorders. The diagnosis is often delayed despite the fact that the accumulation of copper in the body can be shown by various means. Early started medication will stop the accumulation of copper into the body. If the treatment is delayed or ineffective, liver transplantation is required. PMID:20597314

Moilanen, Veikko; Mäkisalo, Heikki

2010-01-01

325

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

Microsoft Academic Search

The recent discovery of mutations in the FGFR-3 (fibroblast growth factor receptor-3) gene (FGFR3) as the cause of achondroplasia has provided new insight into understanding genetic diseases. It was surprising from the viewpoint of molecular genetics that most patients with achondroplasia showed the same mutation at nucleotide 1138, leading to a single amino acid substitution from glycine to arginine at

Gen Nishimuri; Yoshimitsu Fukushima; Hirofumi Ohashi; Shiro Ikegawa

1995-01-01

326

[Disease mechanisms in coeliac disease].  

PubMed

Coeliac disease is a chronic inflammatory disorder that is caused by an inappropriate immune response in the gut to wheat gluten and similar proteins of barley and rye. The disease has a multifactorial aetiology involving multiple genes and environmental factors. In recent years we have gained new knowledge of the molecular basis of this disorder; this paper gives an overview of the current understanding of the pathogenesis of coeliac disease. PMID:14714017

Sollid, Ludvig M; Lundin, Knut E A

2003-11-20

327

Protozoal diseases.  

PubMed

The clinical and pathologic findings of and therapy for such protozoal diseases as equine protozoal myeloencephalitis, toxoplasmosis, sarcocystosis, pneumocytosis, cryptosporidiosis, giardiasis, besnoitiosis, and klossiellosis are discussed. Emphasis is placed on disorders that occur with greater frequency in North America and on emerging protozoal diseases affecting horses. PMID:3091219

Mayhew, I G; Greiner, E C

1986-08-01

328

Lyme Disease.  

National Technical Information Service (NTIS)

The video discusses what lyme disease is, what causes it, how to avoid getting lyme disease, and how it is treated. The video includes graphic illustrations, b-roll, and interview with doctor. The tape is based on 'Medicine for the Public' lecture present...

1994-01-01

329

ALZHEIMER DISEASE  

PubMed Central

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

Apostolova, Liana G.

2014-01-01

330

Prostate Diseases  

MedlinePLUS

... many years, eventually dying of unrelated conditions. How Common are Prostate Diseases? Approximately 3 million American men have some type ... under the age of 40, it becomes more common in older men, and almost half of ... 30,000 die of the disease, making it the second most deadly cancer in ...

331

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

332

Photoresponsive diseases.  

PubMed

Photoresponsive diseases are skin diseases or conditions that are known to respond with partial or complete clearing to ultraviolet exposure. Phototherapy may be used as a single therapy or as combination therapy with other treatments. Health care professionals providing phototherapy treatment are responsible for educating patients regarding the benefits and risks of phototherapy. PMID:17330554

Muekusch, Gabriele; Pitman, Judith; Smiljanic, Dara

2007-02-01

333

Celiac disease.  

PubMed

Celiac disease is an autoimmune disease that occurs in genetically predisposed individuals as the result of an immune response to gluten. This immune response occurs in both the lamina propria and the epithelium of the small intestine. There is a close link to HLA DQ2 and DQ8, although these HLA genes account for only 40% of the genetic influence. Environmental factors, such as the amount and timing of gluten administration in infancy, as well as breastfeeding, influence the disease. Serologic screening studies that use sensitive and specific antibody tests have revealed the disease to be common, occurring in approximately 1% of the population. Clinical presentations are diverse and atypical; the majority of patients lack diarrhea. Therapy is a gluten-free diet that requires avoidance of wheat, rye, and barley, although there is potential for other therapies based on our understanding of the pathophysiology of the disease. PMID:16409146

Green, Peter H R; Jabri, Bana

2006-01-01

334

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

2012-01-01

335

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

PubMed Central

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

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

2013-01-01

336

Evaluation of tetrathiomolybdate in the R6/2 model of Huntington disease.  

PubMed

Huntington disease is an uncommon autosomal dominant neurodegenerative disorder caused by expanded polyglutamine repeats in the huntingtin protein. The proximate mechanisms responsible for neurodegeneration are unknown. Copper ions may play a role in Huntington disease by promoting oligomerization of expanded polyglutamine repeat protein fragments. Ammonium tetrathiomolybdate is a copper complexing agent with demonstrated tolerability and efficacy in another neurodegenerative disorder, Wilson disease. We evaluated ammonium tetrathiomolybdate in the R6/2 transgenic mouse model of Huntington disease. Ammonium tetrathiomolybdate treatment delayed the onset of motor dysfunction in R6/2 mice. There was a trend towards reduced striatal degeneration, suggesting a neuroprotective effect of ammonium tetrathiomolybdate in this model. Given its known tolerability in humans with neurodegeneration, ammonium tetrathiomolybdate could be considered as a candidate for clinical trials in Huntington disease. PMID:19429000

Tallaksen-Greene, Sara J; Janiszewska, Anita; Benton, Kasha; Hou, Guoqing; Dick, Robert; Brewer, George J; Albin, Roger L

2009-03-01

337

Parkinson's disease: from genetics to treatments.  

PubMed

Parkinson's disease (PD) is a common neurodegenerative disease and typically presents with tremor, rigidity, bradykinesia, and postural instability. The hallmark pathological features of PD are loss of dopaminergic neurons in the substantia nigra (SN) and the presence of neuronal intracellular Lewy body (LB) inclusions. In general, PD is sporadic; however, familial PD, while uncommon, can be inherited in an autosomal dominant (AD) or autosomal recessive (AR) manner. The molecular investigations of proteins encoded by PD-linked genes have clarified that ADPD is associated with ?-synuclein and LRRK2, while ARPD is linked to Parkin, PINK1, DJ1, and ATP13A2. Understanding these genes can bring insights into this disease and create possible genetic tests for early diagnosis. Long-term pharmacological treatment is so far disappointing, probably due to unwanted complications and decreasing drug efficacy. Several strategies have been proposed and tested as alternatives for PD. Cellular transplantation of dopamine-secreting stem cells opens the door to new therapeutic avenues for restoration of the functions of degenerative and/or damaged neurons in PD. PMID:23127617

Fan, Hueng-Chuen; Chen, Shyi-Jou; Harn, Horng-Jyh; Lin, Shinn-Zong

2013-01-01

338

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

339

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

340

Inflammatory Bowel Disease in Children of Middle Eastern Descent  

PubMed Central

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

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

2014-01-01

341

A Case of Multiple Sclerosis and Celiac Disease  

PubMed Central

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

Batur-Caglayan, H. Z.; Irkec, C.; Yildirim-Capraz, I.; Atalay-Akyurek, N.; Dumlu, S.

2013-01-01

342

Adenocarcinoma of the upper small bowel complicating coeliac disease.  

PubMed Central

Adenocarcinoma of the small intestine complicating coeliac disease is uncommon. Only 14 cases have been reported, and in only one of these was a jejunal biopsy carried out more than eight months before the diagnosis of malignancy. We describe four more patients with this association, all with long histories of coeliac disease, confirmed in three by jejunal biopsy over five years before the diagnosis of malignancy. Important presenting features of carcinoma were abdominal pain, anaemia, occult gastrointestinal bleeding, abdominal mass, and intestinal obstruction, and these were the main indications for operation. After resection of the tumour survival may be prolonged, as evidenced by one of our cases who remains well eight years after surgery.

Holmes, G K; Dunn, G I; Cockel, R; Brookes, V S

1980-01-01

343

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

PubMed

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

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

2013-07-01

344

[Infectious diseases].  

PubMed

In 2008, several publications have highlighted the role of climate change and globalization on the epidemiology of infectious diseases. Studies have shown the extension towards Europe of diseases such as Crimea-Congo fever (Kosovo, Turkey and Bulgaria), leismaniosis (Cyprus) and chikungunya virus infection (Italy). The article also contains comments on Plasmodium knowlesi, a newly identified cause of severe malaria in humans, as well as an update on human transmission of the H5NI avian influenza virus. It also mentions new data on Bell's palsy as well as two vaccines (varicella-zoster and pneumococcus), and provides a list of recent guidelines for the treatment of common infectious diseases. PMID:19216322

Chapuis-Taillard, Caroline; de Vallière, Serge; Bochud, Pierre-Yves

2009-01-01

345

Gaucher's disease  

PubMed Central

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

Bohra, Vijay; Nair, Velu

2011-01-01

346

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

347

Lyme Disease  

MedlinePLUS Videos and Cool Tools

... Lyme, Connecticut, and in surrounding areas, developed arthritis. Health care providers soon found out that the arthritis was ... is usually painless. To diagnose Lyme disease, the health care provider asks the patient questions about recent activities ...

348

Leishmaniasis Disease  

MedlinePLUS

... the skin and cause sores in the mucous membranes of the nose (most common location), mouth, or ... Leishmaniasis General Information Leishmaniasis FAQs Epidemiology & Risk Factors Biology Disease Diagnosis Treatment Prevention & Control Resources for Health ...

349

Meniere's Disease  

MedlinePLUS

... vertigo (attacks of a spinning sensation), hearing loss, tinnitus (a roaring, buzzing, or ringing sound in the ... of the disease, hearing loss often becomes permanent. Tinnitus and fullness of the ear may come and ...

350

Lyme Disease  

MedlinePLUS

... spread the disease to animals and humans through tick bites. These ticks are typically about the size of ... may appear 3 to 30 days after the tick bite. This rash usually starts at the site of ...

351

Still's Disease  

MedlinePLUS

... your disease are: Learn more about arthritis treatments. Discover ways to make living with arthritis easier. Understand ... pain and the best ways to manage it. Discover what is happening with arthritis research. Help researchers ...

352

Epidemic Diseases.  

National Technical Information Service (NTIS)

The chemotherapy of epidemic diseases in tropical countries poses important practical problems which tend to be underestimated in those western countries where patients can be admitted to a hospital, precisely diagnosed and given the drug appropriate to t...

D. A. Warrell P. L. Perine D. W. Krause

1976-01-01

353

Buerger's Disease  

MedlinePLUS

... is most common in the Orient, Southeast Asia, India and the Middle East, but appears to be ... prevent clots) have not proven effective. The only way to prevent the progression of the disease is ...

354

Alzheimer's Disease  

MedlinePLUS

... years or more if the person is younger. Memory Problems Memory problems are typically one of the first signs ... worried, angry, or violent. Not all people with memory problems have Alzheimer’s disease. Mild forgetfulness can be ...

355

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

356

Reportable diseases  

MedlinePLUS

... report by phone. Examples are rubeola (measles) and pertussis (whooping cough). Report of total number of cases: Examples are ... Meningococcal disease Mumps Novel influenza A virus infections Pertussis ... Poliovirus infection, nonparalytic Psittacosis Q-fever ...

357

Fifth disease  

MedlinePLUS

... only have mild symptoms. However, the virus can cause anemia in an unborn baby and even cause miscarriage. ... such as sickle cell anemia Fifth disease can cause severe anemia , which will need medical treatment.

358

Crohn disease  

PubMed Central

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

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

2011-01-01

359

Binswanger's Disease  

MedlinePLUS

... Information Page Synonym(s): Subcortical Arteriosclerotic Encephalopathy, Dementia - Subcortical Table of Contents (click to jump to sections) What ... or gradual and then progress in a stepwise manner. BD can often coexist with Alzheimer's disease. Behaviors ...

360

Alzheimer Disease  

MedlinePLUS

... neurotransmitters (say: nur-oh- trans -mih-terz), allow brain cells to communicate with each other. But a person ... to other parts of the brain. Over time, brain cells affected by Alzheimer disease also begin to shrink ...

361

Alpers' Disease  

MedlinePLUS

... in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100, ... symptoms. Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples ...

362

Gaucher Disease  

MedlinePLUS

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

363

Graves' Disease  

MedlinePLUS

... thyroid hormone. This overactive thyroid state is called hyperthyroidism. Doctors don't know what causes Graves' disease, ... your doctor will check for additional signs of hyperthyroidism, including fast heart rate, irregular heart rhythm, hand ...

364

Graves' Disease  

MedlinePLUS

... see if levels return to normal. Radioactive iodine uptake (RAIU). An RAIU tells how much iodine the ... uses it to make thyroid hormone. A high uptake suggests Graves' disease. This test can be helpful ...

365

Kawasaki Disease  

MedlinePLUS

... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... treatment helps reduce the risk of Kawasaki disease affecting the coronary arteries and causing serious problems. Outlook ...

366

Hirschsprung Disease  

MedlinePLUS

... appear months or years later. Hirschsprung disease can cause constipation, diarrhea, and vomiting and sometimes lead to serious colon complications, like enterocolitis and toxic megacolon, which can be life threatening. So it's ... The large intestine moves digested material through the ...

367

[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

2010-06-01

368

Heart Disease  

MedlinePLUS

... heart disease and stroke. The NIH-supported Cardiovascular Cell Therapy Research Network is exploring the use of bone ... cctrn/ ). Network researchers are investigating the types of cells suitable for therapy, optimal numbers of cells to use, and methods ...

369

Chagas disease  

MedlinePLUS

... help control the spread of the disease. Blood banks in Central and South America screen donors for ... discarded if the donor tests positive. Most blood banks in the United States began screening for Chagas ...

370

Crohn's Disease  

MedlinePLUS

... can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

371

Chagas disease  

PubMed Central

Chagas disease is the clinical condition triggered by infection with the protozoan Trypanosoma cruzi. The infection is transmitted by triatomine insects while blood feeding on a human host. Field studies predict that one third of an estimated 18 million T cruzi?infected humans in Latin America will die of Chagas disease. Acute infections are usually asymptomatic, but the ensuing chronic T cruzi infections have been associated with high ratios of morbidity and mortality: Chagas heart disease leads to unexpected death in 37.5% of patients, 58% develop heart failure and die and megacolon or megaoesophagus has been associated with death in 4.5%. The pathogenesis of Chagas disease appears to be related to a parasite?induced mutation of the vertebrate genome. Currently, treatment is unsatisfactory.

Teixeira, A R L; Nitz, N; Guimaro, M C; Gomes, C

2006-01-01

372

Huntington's Disease.  

National Technical Information Service (NTIS)

As the aviation population ages, it increasingly becomes affected by neurological diseases that may cause disability and reduce mobility and freedom, both mentally and physically. While some disorders progress slowly with relatively little effect, others ...

R. Craig-Gray

2012-01-01

373

Alzheimer's disease  

MedlinePLUS

Senile dementia - Alzheimer's type (SDAT); SDAT ... You are more likely to get Alzheimer's disease (AD) if you: Are older. However, developing AD is not a part of normal aging. Have a close blood relative, such ...

374

Vaginal Diseases  

MedlinePLUS

... symptoms. Common causes are bacterial infections, trichomoniasis, and yeast infections. Some other causes of vaginal symptoms include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems depends ...

375

[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

376

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

377

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

378

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

379

Lentil Diseases  

Microsoft Academic Search

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

Paul Taylor; Kurt Lindbeck; Weidong Chen; Rebecca Ford

380

An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of infliximab.  

PubMed

Autoimmune complications in the context of primary immunodeficiency diseases represent a well-known phenomenon, and this is widely recognized also for Selective Immunoglobulin A deficiency (IgAD), the most common primary antibody deficiency (PAD). Relapsing polychondritis (RP) is a rare immune-mediated, difficult to treat, disorder in which the cartilaginous tissues are the target for inflammation and damage. Ocular inflammatory manifestations in RP are frequent and often sight-threatening. Antiphospholipid syndrome (APS) is an acquired prothrombotic state related to circulating autoantibodies against phospholipids and/or their cofactors. Rare reports of APS associated to RP, PAD and APS or PAD and RP are available. PMID:23241130

Firinu, D; Frau, A; Pisanu, M; Lorai, M M; Meleddu, R; Musu, F; Manconi, P E; Del Giacco, S R

2012-01-01

381

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

SciTech Connect

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

Nishimuri, Gen [Dokkyo Univ. School of Medicine, Tochigi (Japan); Fukushima, Yoshimitsu; Ohashi, Hirofumi [Saitama Children`s Medical Center, Saitama (Japan); Ikegawa, Shiro [Tokyo Univ. (Japan)

1995-11-20

382

[Allergic diseases as environmental diseases].  

PubMed

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

Charpin, Denis

2007-06-30

383

Infection and Cardiovascular Disease  

ClinicalTrials.gov

Cardiovascular Diseases; Coronary Disease; Cerebrovascular Accident; Heart Diseases; Myocardial Infarction; Infection; Chlamydia Infections; Cytomegalovirus Infections; Helicobacter Infections; Atherosclerosis

2005-06-23

384

Cryoglobulinemic disease.  

PubMed

"Cryoglobulinemia" refers to the presence of cryoglobulins (immunoglobulins that precipitate at variable temperatures < 37 degrees C [98.6 degrees F]) in serum. Monoclonal cryoglobulinemia (type I) involves a single type of monoclonal immunoglobulin, while mixed cryoglobulinemia involves a mixture either of polyclonal immunoglobulin (Ig) G and monoclonal IgM (type II), or of polyclonal IgG and polyclonal IgM (type Ill); both monoclonal and polyclonal IgM have rheumatoid factor activity. Cryoglobulinemia is a unique model of human disease for several reasons: (1) cryoglobulins are detected using a simple technical approach that is based on in vitro laboratory observation of cold precipitation in serum; (2) cryoglobulinemic organ damage may be produced by two different etiopathogenic mechanisms (accumulation of cryoglobulins and autoimmune-mediated vasculitic damage); and (3) cryoglobulinemia is associated with a wide range of etiologies, symptoms, and outcomes, and is considered a disease that combines elements of autoimmune and lymphoproliferative diseases. There are three main broad treatment strategies in cryoglobulinemia-conventional immunosuppression, antiviral treatment, and biologic therapy. Some agents, such as corticosteroids and rituximab, have been successfully used in all types of cryoglobulinemia; however, treatment should be modulated according to the underlying associated disease (chronic viral infections, autoimmune diseases, or cancer), the predominant etiopathogenic damage (vasculitis vs. hyperviscosity), and the severity of internal organ involvement. PMID:24575538

Retamozo, Soledad; Brito-Zerón, Pilar; Bosch, Xavier; Stone, John H; Ramos-Casals, Manuel

2013-11-01

385

Wilson's disease.  

PubMed

(Full text is available at http://www.manu.edu.mk/prilozi). Wilson's disease (WD) is a disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase, ATP7B. The WD incidence is approximately 1/50-10,000 live births worldwide. Clinical manifestations of WD may be of any kind, but usually the symptoms of presentation are hepatic or neuropsychiatric, with a vast range of disturbances for both groups of symptoms. In children, however, clinical symptoms may be absent, making the diagnosis of the disease more difficult than in adults. Hepatic manifestations may range from asymptomatic minor biochemical disturbances, to acute, but mostly chronic, hepatitis, cirrhosis or severe fulminant hepatic failure. The spectrum of neurological manifestations is wide, including tremor, hypersalivation, Dysarthria, coordination defects, dystonia, ataxia. The spectrum of psychiatric manifestations is considerable and may include different disturbances such as altered working performance, anxiety, depression and antisocial behaviour. Kayser-Fleischer rings (KF) are present in 95% of patients with neurological symptoms and somewhat over half of those without neurological symptoms. In children presenting with liver disease, KF rings are usually absent. To obtain a more reliable diagnosis of WD, the Leipzig scoring system was proposed by an international consensus of experts. Wilson's disease copper overload is treated with chelating agents such as penicillamine, trientine and tetrathiomolybdate. Zinc is used mostly for mantainance therapy or the treatment of asymptomatic WD patients. Key words: Wilson diseases, copper, cirrhosis, children. PMID:24798599

Loudianos, G; Lepori, M B; Mameli, E; Dessì, V; Zappu, A

2014-01-01

386

Gallstone disease in children  

Microsoft Academic Search

Context  Little is known about the epidemiology of cholelithiasis in children. Cholelithiasis and choledocholithiasis were considered\\u000a to be uncommon in infants and children but have been increasingly diagnosed in recent years due to widespread use of ultrasonography.\\u000a However, there is not much of information from India and no consensus among Indian pediatricians and pediatric surgeons regarding\\u000a management of gallstones in children.

Ujjal Poddar; Sanjay Gandhi

2010-01-01

387

Single Gene Disease Risk  

Microsoft Academic Search

\\u000a The diagnosis of a child with a single gene disorder can take on different meanings for different families. It is not uncommon\\u000a for some families to arrive at a pediatric genetics clinic after months or years of searching for an underlying reason for\\u000a their child’s symptoms. The fact that, through genetic testing, clinicians can put a name to the collection

Tricia See; Cynthia J. Tifft

388

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

PubMed

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

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

2014-07-01

389

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing  

PubMed Central

Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. Diseases with locus heterogeneity or overlapping signs and symptoms are especially challenging owing to the number of potential targets. Consequently, there is immense need for scalable, economical, rapid, multiplexed diagnostic testing for rare Mendelian diseases. Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases.

Kingsmore, Stephen F; Dinwiddie, Darrell L; Miller, Neil A; Soden, Sarah E; Saunders, Carol J

2011-01-01

390

Cardiac tamponade and pericardial disorders in connective tissue diseases: case report and literature review.  

PubMed Central

Pericardial disorders occurring in connective tissue diseases are not uncommon and may present as acute or chronic pericarditis with or without an effusion. In many instances, a diagnosis of pericardial involvement is not found until autopsy. Echocardiography and other currently employed radiographic techniques have enhanced the ability to make a diagnosis. Approximate frequencies of common connective tissue disorders with pericardial involvement include scleroderma (59%), systemic lupus erythematosus (44%), mixed connective tissue disease (30%), rheumatoid arthritis (24%), and polymyositis/dermatomyositis (11%). Cardiac tamponade or constriction is rare. This article describes a patient with clinical features consistent with mixed connective tissue disease that presented with a pericardial effusion and cardiac tamponade. In addition, a review of pericardial involvement in connective tissue diseases and the occurrence of cardiac tamponade or constriction is included.

Langley, R. L.; Treadwell, E. L.

1994-01-01

391

Skeletal muscle disease: patterns of MRI appearances  

PubMed Central

Although the presumptive diagnosis of skeletal muscle disease (myopathy) may be made on the basis of clinical–radiological correlation in many cases, muscle biopsy remains the cornerstone of diagnosis. Myopathy is suspected when patients complain that the involved muscle is painful and tender, when they experience difficulty performing tasks that require muscle strength or when they develop various systemic manifestations. Because the cause of musculoskeletal pain may be difficult to determine clinically in many cases, MRI is increasingly utilised to assess the anatomical location, extent and severity of several pathological conditions affecting muscle. Infectious, inflammatory, traumatic, neurological, neoplastic and iatrogenic conditions can cause abnormal signal intensity on MRI. Although diverse, some diseases have similar MRI appearances, whereas others present distinct patterns of signal intensity abnormality. In general, alterations in muscle signal intensity fall into one of three cardinal patterns: muscle oedema, fatty infiltration and mass lesion. Because some of the muscular disorders may require medical or surgical treatment, correct diagnosis is essential. In this regard, MRI features, when correlated with clinical and laboratory findings as well as findings from other methods such as electromyography, may facilitate correct diagnosis. This article will review and illustrate the spectrum of MRI appearances in several primary and systemic disorders affecting muscle, both common and uncommon. The aim of this article is to provide radiologists and clinicians with a collective, yet succinct and useful, guide to a wide array of myopathies.

Theodorou, D J; Theodorou, S J; Kakitsubata, Y

2012-01-01

392

[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

393

[Darier disease].  

PubMed

Darier disease (Darier-White disease, dyskeratosis follicularis) is a rare autosomal dominant genodermatosis with regional differences in prevalence. The responsible mutations have been identified on chromosome 12q23-24.1. The gene encodes a calcium-ATPase type 2 in the sarco-/endoplasmic reticulum (SERCA2), which belongs to the large family of P-type cation pumps. This pump couples ATP hydrolysis to the transport of cations across membranes and thus plays a significant role in intracellular calcium signaling. Neuropsychiatric disorders are often associated with Darier disease. However, these diseases are not due to mutations in the gene ATP2A2 but to a susceptibility locus in a 6.5 Mb region near this gene. Currently, the treatment is strictly limited to the relief of symptoms. In severe cases, oral retinoids (acitretin: initial 10-20 mg/Tag and isotretinoin: 0.5-1 mg/kg/day) lead to a response in 90% of cases. However, side effects often prevent long-term use of vitamin A derivatives. PMID:23337962

Klausegger, A; Laimer, M; Bauer, J W

2013-01-01

394

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 ...

395

Lyme Disease  

Microsoft Academic Search

Lyme disease is caused by the spirochete, Borrelia burgdorferi sensu lato, a fastidious, microaerophilic bacterium that replicates slowly and requires special media to grow in the laboratory\\u000a (Shapiro and Gerber 2000). The organism has been subclassified into several genomospecies, including B. burgdorferi sensu stricto, B. garinii, B. afzelii and others. Different genomospecies seem to be associated with an increased likelihood

Eugene D. Shapiro

396

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

397

Cement disease.  

PubMed

Does "cement disease" exist? The bony environment surrounding a loosened cemented prosthesis is an abnormal pathologic condition which, if left unattended, will progress to a total failure of the joint including an inhibition of function and immobilizing pain. That biomaterial properties of the cement used for fixation also contribute to the pathologic state separates this disease from other modes of loosening. This leads inevitably to the conclusion that "cement disease" does exist. Methyl methacrylate has revolutionized the treatment of severe joint dysfunction. There can be no doubt that improving surgical technique, cement handling, and the cement itself will continue to improve the results and reduce the incidence of failure due to loosening. Cement is undoubtedly satisfactory for elderly patients with low activity levels and relatively short life expectancies. However, because of the inherent biologic and biomechanical properties of methyl methacrylate, it is unlikely that it can be rendered satisfactory in the long run for the young, the active, or the overweight patient, for whom alternatives are currently being sought. In such cases, the elimination of "cement disease" can only occur with the elimination of cement. Alternatives include the search for other grouting materials and the development of prostheses with satisfactory surfaces for either press-fit or biologic ingrowth. PMID:3315375

Jones, L C; Hungerford, D S

1987-12-01

398

Moyamoya disease  

Microsoft Academic Search

The authors reviewed the Japanese literature on moyamoya disease. In the article we discuss the history of such investigations in Japan, the signs and symptoms, the diagnosis (especially concerning diagnostic criteria and magnetic resonance imaging), the pathology in relation to its etiology, and the current methods of treatment. On the whole, the main aim of the paper was to introduce

Yutaka Maki; Takao Enomoto

1988-01-01

399

Celiac disease.  

PubMed

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

Rivera, E; Assiri, A; Guandalini, S

2013-10-01

400

Moyamoya disease.  

PubMed

A 4 years old boy presented with acute left hemiplegia. Preliminary neuroimaging suggested an arterial ischemic process. Clinical and laboratory evaluation excluded haematologic, metabolic and vasculitic causes. Cerebral angiography confirmed the diagnosis of Moyamoya disease. Treatment included physiotherapy and close follow-up for recurrence. PMID:21798142

Rafiq, Asim; Vaqar, Abeer; Javaid, Khalid Hussain; Parveen, Rashida; Sadaf, Rabia

2011-08-01

401

Parkinson's Disease  

Microsoft Academic Search

Parkinson's disease (PD) results primarily from the death of dopaminergic neurons in the substantia nigra. Current PD medications treat symptoms; none halt or retard dopaminergic neuron degeneration. The main obstacle to developing neuroprotective therapies is a limited understanding of the key molecular events that provoke neurodegeneration. The discovery of PD genes has led to the hypothesis that misfolding of proteins

William Dauer; Serge Przedborski

2003-01-01

402

Cushing's Disease  

PubMed Central

We describe two patients of the Department of Medicine at Sultan Qaboos University Hospital, Muscat, Oman, with Cushing’s disease. Their magnetic resonance imaging scans of the pituitary were negative. One patient was treated by transsphenoidal surgery and the other by bilateral endoscopic adrenalectomy. Both procedures were successful and the patients cured. The advantages and disadvantages of these two approaches are discussed.

El-Shafie, Omayma; Abid, Fatma B; Al-Kindy, Nayal; Sankhla, Dilip; Woodhouse, Nicholas J

2008-01-01

403

Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.  

PubMed

Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia. PMID:24295883

Hans, Sachinder S; Ngo, William; McAllister, Michael

2014-02-01

404

Febrile cholestatic disease as an initial presentation of nodular lymphocyte-predominant Hodgkin lymphoma  

PubMed Central

Febrile cholestatic liver disease is an extremely unusual presentation of Hodgkin lymphoma (HL). The liver biopsy of a 40-year-old man with febrile episodes and cholestatic laboratory pattern disclosed an uncommon subtype of HL, a nodular lymphocyte-predominant HL (NLPHL). Liver involvement in the early stage of the usually indolent NLPHL’s clinical course suggests an aggressiveness and unfavorable outcome. Emphasizing a liver biopsy early in the diagnostic algorithm enables accurate diagnosis and appropriate treatment. Although rare, HL should be considered in the differential diagnosis of cholestasis.

Mrzljak, Anna; Gasparov, Slavko; Kardum-Skelin, Ika; Colic-Cvrlje, Vesna; Ostojic-Kolonic, Slobodanka

2010-01-01

405

Combined X-ray, NMR, and Kinetic Analyses Reveal Uncommon Binding Characteristics of the Hepatitis C Virus NS3-NS4A Protease Inhibitor BI 201335*  

PubMed Central

Hepatitis C virus infection, a major cause of liver disease worldwide, is curable, but currently approved therapies have suboptimal efficacy. Supplementing these therapies with direct-acting antiviral agents has the potential to considerably improve treatment prospects for hepatitis C virus-infected patients. The critical role played by the viral NS3 protease makes it an attractive target, and despite its shallow, solvent-exposed active site, several potent NS3 protease inhibitors are currently in the clinic. BI 201335, which is progressing through Phase IIb trials, contains a unique C-terminal carboxylic acid that binds noncovalently to the active site and a bromo-quinoline substitution on its proline residue that provides significant potency. In this work we have used stopped flow kinetics, x-ray crystallography, and NMR to characterize these distinctive features. Key findings include: slow association and dissociation rates within a single-step binding mechanism; the critical involvement of water molecules in acid binding; and protein side chain rearrangements, a bromine–oxygen halogen bond, and profound pKa changes within the catalytic triad associated with binding of the bromo-quinoline moiety.

Lemke, Christopher T.; Goudreau, Nathalie; Zhao, Songping; Hucke, Oliver; Thibeault, Diane; Llinas-Brunet, Montse; White, Peter W.

2011-01-01

406

A case of Crohn's disease involving the gallbladder  

PubMed Central

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

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

2006-01-01

407

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

408

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 ...

409

Occlusive Peripheral Arterial Disease  

MedlinePLUS

... Pericardial Disease Sports and the Heart Heart Tumors Atherosclerosis Coronary Artery Disease Peripheral Arterial Disease Aneurysms and ... Disease Occlusive peripheral arterial disease often results from atherosclerosis. Symptoms depend on which artery is blocked and ...

410

Acid Lipase Disease  

MedlinePLUS

NINDS Acid Lipase Disease Information Page Synonym(s): Cholesterol Ester Storage Disease, Wolman’s Disease Table of Contents (click to jump ... research is being done? Clinical Trials What is Acid Lipase Disease ? Acid lipase disease occurs when the ...

411

Celiac disease.  

PubMed

Celiac disease is a genetically determined, permanent intolerance to gluten, a protein complex found in wheat, rye and barley. As many as 1:163 people are affected by it, but only a small percentage are aware of the condition, which begins either in infancy, with gastrointestinal symptoms, or in childhood and later years with non-Gl signs and symptoms, such as fatigue, depression, anxiety, anemia, stunted growth, and delayed puberty. A strong association with Type 1 diabetes and Down syndrome is also found, thus making screening mandatory for these subjects. Celiac disease is often entirely clinically silent, yet it must be detected in order to prevent long-term complications. PMID:12683313

Guandalini, Stefano

2003-03-01

412

Thyroid Disease  

Microsoft Academic Search

\\u000a \\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Dermatological manifestations as a sign of thyroid disturbances occur either in thyreotoxic states or in the evolution of\\u000a autoimmune diseases of the thyroid that is in apparent euthyroidism, or in overt hypothyroidism.\\u000a \\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a \\u000a Pretibial myxedema and thyroid acropachy are typical manifestations of hyperthyroidism, in particular of Graves’ disease.\\u000a Vitiligo, diffuse alopecia (both telogen effluvium and alopecia areata), and chronic

Alfredo Rebora; Franco Rongioletti

413

Gaucher disease.  

PubMed

Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an extremely heterogeneous spectrum of clinical involvement from the fetus to adulthood. Splenomegaly, blood cytopenia, and bone involvement are the main manifestations of Gaucher disease, but nervous system degeneration is observed in about 5-10% of patients. The accumulation in neurons of glucosylceramide and its derivative, psychosine, are thought to underlie neuronal dysfunction and death, although Gaucher cells that mostly accumulate such substances are mainly macrophages. Enzyme replacement therapy dramatically improves the outcome of patients because of its extreme efficacy in the treatment of the systemic involvement. However, it has only limited effects on most neurological signs. PMID:23622393

Mignot, Cyril; Gelot, Antoinette; De Villemeur, Thierry Billette

2013-01-01

414

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

415

Infectious Diseases  

Microsoft Academic Search

\\u000a Infectious diseases have keywords that represent viral, bacterial, mycobacterial, treponemal, borrelial, fungal, and yeast\\u000a organisms. Viruses include herpes simplex, varicella zoster, and variola. Even though variola (smallpox) is not present anywhere\\u000a in the world, because bioterrorism is a constant threat, it is included here. Terroristic use of this organism could lead\\u000a to devastating plagues because few people are immunized. The

Herbert B. Allen

416

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

417

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

2013-06-01

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:24129033

Puéchal, Xavier

2013-11-01

419

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

420

[Botulism disease].  

PubMed

Botulism is caused by a neurotoxin produced from the anaerobic, spore forming bacteria--clostridium botulinum. The disease is usually caused by toxins type A, B and E. Since the disease was first recognized in the beginning of the nineteenth century as food poisoning, different forms of intoxication were described. Infantile botulism, wound botulism, infectious botulism and inadvertent botulism are all clinical syndromes caused by the same toxin. The attempt to use the botulinum toxin as biological warfare agent is well known. Recently the potential terrorist use of botulinum toxin has become a real concern. Botulism is characterized by its classic triad: 1) symmetric descending flaccid paralysis with prominent bulbar palsies 2) afebrile patient 3) clear sensorium. The paralysis usually begins in the cranial nerves where blurred vision, dysarthia and dysphagia are the initial complaints. Diagnosis is based on clinical findings, history of suspicious exposure and supportive ancillary testing to rule out other causes of neurologic dysfunction that mimic botulism such as the Guillain-Barre syndrome, Myasthenia Gravis or cerebrovascular stroke. Laboratory confirmation of suspected cases is usually delayed and treatment should begin before confirmation is completed. The treatment includes supportive care, and the administration of antitoxin which reduces mortality if given early. Since community and emergency room physicians may be the first to treat patients with any type of botulinum intoxication, they must know how to diagnose and treat this rare but potentially lethal disease. PMID:12170559

Marcus, Nir; Hourvitz, Ariel

2002-05-01

421

Clostridium difficile Infection and Inflammatory Bowel Disease: A Review  

PubMed Central

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

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

2011-01-01

422

Celiac disease hidden by cryptogenic hypertransaminasemia mistaken for fatty liver.  

PubMed

A variety of signs and symptoms have been reported in regards to the typical and atypical presentations of CD. It is now well recognised that its onset may occur at any age and that atypical forms of CD are much more prevalent than its classic form (1).In this case, where the patient presented with high BMI and evidence of grade I of fatty liver disease, CD was suspected due to mildly abnormal bloating, cryptogenic hypertransaminasemia, abnormal LFT and poor response to fatty liver treatment. This presentation type is not uncommon; diagnosis was confirmed by the presence of subtotal villous atrophy in the biopsy specimen, positive specific antibody screening (AGA, tTG and EMA antibodies), negative antibody screening and normalization of liver enzymes on a gluten-free diet (Tab. 2, Ref. 13). PMID:24020715

Foroutan, M; Nejad, M R; Molanaee, S; Hogg-Kollars, S; Rostami, K

2013-01-01

423

Plant Disease Lesson: Rhizoctonia Diseases of Turfgrass  

NSDL National Science Digital Library

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

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

2001-11-09

424

Plant Disease Lesson: Soybean cyst nematode disease  

NSDL National Science Digital Library

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

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

2000-07-25

425

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

426

CMV infection complicating the diagnosis of Crohn's disease in an immunocompetent patient  

PubMed Central

Cytomegalovirus (CMV) affects the gastrointestinal tract commonly; however CMV colitis is uncommon in patients who are not severely immunocompromised. The author reports a 51-year-old Caucasian female who was admitted to the hospital with exacerbation of her chronic diarrhoea. CAT scan of the abdomen and pelvis showed thickening of the wall of the terminal ileum with inflammatory stranding and follow-up colonoscopy showed extensive circumferential ulceration in the terminal ileum. Biopsies confirmed diagnosis of CMV infection and the patient was started on appropriate antimicrobial agents. CMV viremia showed response to the medication; however the patient’s intestinal symptoms failed to improve. Nodular lesions consistent with erythema nodusum were noticed and promethus test was consistent with Crohn’s disease. The patient showed good response to immunosuppressive therapy. CMV infections are known to exacerbate symptoms of inflammatory bowel disease and hence Crohn’s disease should be suspected in an immunocompetent patient presenting with CMV ileitis.

Shahani, Lokesh

2012-01-01

427

The role of fecal elastase-1 in detecting exocrine pancreatic disease.  

PubMed

Exocrine pancreatic disease is thought to be uncommon in clinical practice and usually secondary to excess alcohol intake. Although excess alcohol intake does account for many cases of exocrine pancreatic disease, other conditions are associated with exocrine pancreatic insufficiency and such dysfunction perhaps occurs more frequently than conventionally expected. A reliable, patient-friendly, cheap and easy to use test for exocrine pancreatic disease is yet to be established; however, in many countries the main (and often only available) method of assessment of exocrine pancreatic function is the fecal-elastase-1 test. This Review examines the role of fecal-elastase-1 testing in detecting exocrine pancreatic insufficiency in a number of gastrointestinal and nongastrointestinal conditions and determines the value of pancreatic enzyme supplementation in these settings. PMID:21629239

Leeds, John S; Oppong, Kofi; Sanders, David S

2011-07-01

428

Corticosteroid treatment as a risk factor for invasive aspergillosis in patients with lung disease.  

PubMed Central

Invasive pulmonary aspergillosis usually occurs in severely immunocompromised or neutropenic patients. Six patients with invasive aspergillosis are described whose only defence impairment was underlying lung disease and corticosteroid treatment. Cough, fever, and sputum production were the usual reasons for presentation and four patients developed the sepsis syndrome. Radiographic findings included de novo cavitation in three patients and rapid radiographic progression in four. Aspergillus species were isolated from respiratory secretions of all patients early in the course of the disease. Treatment was effective in only two patients and the subsequent progress of the others was consistent with a chronic necrotising process. Invasive pulmonary aspergillosis is uncommon in patients with respiratory diseases receiving corticosteroids, but should be considered when pneumonia and cavitary infiltrates occur. Images

Palmer, L. B.; Greenberg, H. E.; Schiff, M. J.

1991-01-01

429

Subacute cutaneous lupus erythematosus onset preceded by Kikuchi-Fujimoto disease  

PubMed Central

Kikuchi-Fujimoto disease (KFD) is an uncommon clinicopathological entity characterized by fever and lymphadenopathy, predominantly involving cervical lymph nodes, accompanied by chills and leukopenia. The diagnosis relies primarily on the presence of typical morphological features in the swelling lymph nodes. KFD can occur as a benign and self-limiting lymphadenopathy, but it can sporadically precede, postdate or coincide with the diagnosis of systemic lupus erythematosus (SLE). The authors report a case of subacute cutaneous lupus erythematosus (SCLE) in a 42-year-old female preceded by prolonged fever, anemia, leukopenia, and cervical necrotizing lymphadenopathy. About two months later, the patient developed facial and scalp plaques suggestive of lupus skin disease. Histologic and immunologic investigations lead to the diagnosis of SCLE. It is not clear whether KFD associated with lupus skin disease are true KFD or a histopathologic feature of SLE.

Di Lernia, Vito; Bajocchi, Gianluigi; Piana, Simonetta

2014-01-01

430

Cowden's disease--a report on the first case in Korea and literature review.  

PubMed Central

Cowden's disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 32-year-old man with oral mucosal papillomatosis and plantar hyperkeratosis as a definite case of Cowden's disease according to the criteria proposed by Salem and Steck. The patient also had a thyroid mass and numerous gastrointestinal polyps endoscopically. Histologically the polyps were hamartomatous or hyperplastic polyps. The oral papillary lesions were fibroepithelial polyps and the thyroid mass was a follicular adenoma. We review the literature on this entity and summarize the pertinent findings. To the best of our knowledge, this is the first documented case of Cowden's disease in a Korean.

Lee, H. R.; Moon, Y. S.; Yeom, C. H.; Kim, K. W.; Chun, J. Y.; Kim, H. K.; Choi, H. S.; Kim, D. K.; Chung, T. S.

1997-01-01

431

Cowden's disease--a report on the first case in Korea and literature review.  

PubMed

Cowden's disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 32-year-old man with oral mucosal papillomatosis and plantar hyperkeratosis as a definite case of Cowden's disease according to the criteria proposed by Salem and Steck. The patient also had a thyroid mass and numerous gastrointestinal polyps endoscopically. Histologically the polyps were hamartomatous or hyperplastic polyps. The oral papillary lesions were fibroepithelial polyps and the thyroid mass was a follicular adenoma. We review the literature on this entity and summarize the pertinent findings. To the best of our knowledge, this is the first documented case of Cowden's disease in a Korean. PMID:9443100

Lee, H R; Moon, Y S; Yeom, C H; Kim, K W; Chun, J Y; Kim, H K; Choi, H S; Kim, D K; Chung, T S

1997-12-01

432

[Biermer's disease].  

PubMed

Pernicious anaemia is an autoimmune atrophic gastritis inducing vitamin B12 deficiency by malabsorption. This disease may be diagnosed in the absence of any anaemia, on a neuropathy or when one or several autoimmune disorders co-exist. Typically, pernicious anaemia is revealed by macrocytic megaloblastic anaemia. Diagnosis is done on low serum vitamin B12, raised serum homocysteine, parietal cell and, intrinsic factor antibodies. Pernicious anaemia should be treated indefinitely by monthly intramuscular hydroxocobalamin. Because of an increased incidence of gastric carcinoma, endoscopy should be evenly performed. PMID:11757269

Zittoun, J

2001-09-15

433

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

PubMed Central

Purpose To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG) and color vision testing was performed for all subjects. Results The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM) and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGD-FFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt’s disease.

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

2013-01-01

434

Peripheral neuropathy incidence in inflammatory bowel disease  

PubMed Central

Objective: Our aim was to determine the incidence of peripheral neuropathy in a population-based inflammatory bowel disease (IBD) cohort from Olmsted County, Minnesota. Methods: We retrospectively ascertained neuropathy incidence in a population-based cohort of adult persons newly diagnosed with IBD between 1940 and 2004 in Olmsted County, Minnesota, using the medical records linkage system of the Rochester Epidemiology Project. The Kaplan-Meier method was used to estimate the cumulative incidence of neuropathy. Results: A total of 772 Olmsted County residents aged 18 to 91 years were diagnosed with IBD. After 12,476 person-years, 9 patients developed neuropathy, providing an overall incidence rate of 72 (95% confidence interval [CI] 33–137) cases per 100,000 IBD person-years. The cumulative incidence rates after 10, 20, and 30 years were 0.7% (95% CI 0.0%–1.3%), 0.7% (95% CI 0.0%–1.5%), and 2.4% (95% CI 0.6%–4.6%), respectively. Neuropathy was diagnosed after 1 to 44 years from IBD onset. Only 2 patients had active bowel disease at the time of neuropathy onset. The clinical spectrum consisted of 1) monophasic immune radiculoplexus neuropathy (comorbid diabetes in 2 of 4 patients) and 2) chronic distal sensorimotor polyneuropathy (comorbid diabetes in 2 of 5 patients). Conclusions: Our population-based study suggests that neuropathy is uncommon in the patient population of IBD. Radiculoplexus neuropathy and sensorimotor polyneuropathy were both observed, commonly during periods of bowel disease inactivity. Clinicians should consider other etiologies of neuropathy in patients with IBD.

Loftus, Edward V.; Harmsen, William S.; Dyck, P. James B.; Klein, Christopher J.

2013-01-01

435

[Addison's disease].  

PubMed

The clinical signs and symptoms of primary adrenal insufficiency are unspecific often causing a delayed diagnosis or even misdiagnosis. In the diagnostic work-up the short synacthen test is regarded as the gold standard. Hydrocortisone and fludrocortisone are the preferred therapy for Addison's disease. The management and surveillance of therapy requires experience and several aspects need to be followed to prevent side effects which might occur due to overtreatment or undertreatment. Very important aspects in therapy are the repeated teaching of the patient and relatives, the issuing of an emergency steroid card and the prescription of a glucocorticoid emergency set. Acute adrenal failure (adrenal crisis), which might be the first manifestation of adrenal insufficiency, is a life-threatening situation requiring immediate glucocorticoid administration and fluid substitution. The most common causes for an adrenal crisis are gastrointestinal infections and fever and discontinuation of glucocorticoid therapy. This article gives an up-to-date overview of diagnostic and therapeutic aspects of Addison's disease. PMID:22907517

Quinkler, M

2012-09-01

436

Chagas' disease.  

PubMed Central

Chagas' disease, caused by Trypanosoma cruzi, is an important cause of morbidity in many countries in Latin America. The important modes of transmission are by the bite of the reduviid bug and blood transfusion. The organism exists in three morphological forms: trypomastigotes, amastigotes, and epimastigotes. The mechanism of transformation and differentiation is currently being explored, and signal transduction pathways of the parasites may be involved in this process. Parasite adherence to and invasion of host cells is a complex process involving complement, phospholipase, penetrin, neuraminidase, and hemolysin. Two clinical forms of the disease are recognized, acute and chronic. During the acute stage pathological damage is related to the presence of the parasite, whereas in the chronic stage few parasites are found. In recent years the roles of tumor necrosis factor, gamma interferon, and the interleukins in the pathogenesis of this infection have been reported. The common manifestations of chronic cardiomyopathy are arrhythmias and thromboembolic events. Autoimmune, neurogenic, and microvascular factors may be important in the pathogenesis of the cardiomyopathy. The gastrointestinal tract is another important target, and "mega syndromes" are common manifestations. The diagnosis and treatment of this infection are active areas of investigation. New serological and molecular biological techniques have improved the diagnosis of chronic infection. Exacerbations of T. cruzi infection have been reported for patients receiving immuno-suppressive therapy and for those with AIDS. Images

Tanowitz, H B; Kirchhoff, L V; Simon, D; Morris, S A; Weiss, L M; Wittner, M

1992-01-01

437

A de novo monoclonal immunoglobulin deposition disease in a kidney transplant recipient: a case report  

PubMed Central

Introduction Myeloma following kidney transplantation is a rare entity. It can be divided into two groups: relapse of a previous myeloma and de novo myeloma. Some of these myelomas can be complicated by a monoclonal immunoglobulin deposition disease, which is even less common. Less than ten cases of monoclonal immunoglobulin deposition disease after renal graft have been reported in the literature. The treatment of these patients is not well codified. Case presentation We report the case of a 43-year-old white European man who received a renal transplant for a nephropathy of unknown etiology and developed a nephrotic syndrome with kidney failure at 2-years follow-up. We diagnosed a de novo monoclonal immunoglobulin deposition disease associated with a kappa light chain multiple myeloma, which is a very uncommon presentation for this disease. Three risk factors were identified in this patient: Epstein–Barr virus reactivation with cytomegalovirus co-infection; intensified immunosuppressive therapy during two previous rejection episodes; and human leukocyte antigen-B mismatches. Chemotherapy treatment and decrease in the immunosuppressive therapy were followed by remission and slight improvement of renal function. A relapse occurred 8 months later and his renal function worsened rapidly requiring hemodialysis. He died from septic shock 4 years after the diagnosis of monoclonal immunoglobulin deposition disease. Conclusions This rare case of post-transplant lymphoproliferative disorder with an uncommon presentation illustrates the fact that treatment in such a situation is very difficult to manage because of a small number of patients reported and a lack of information on this disease. There are no guidelines, especially concerning the immunosuppressive therapy management.

2014-01-01

438

Problem based review: a patient with Parkinson's disease.  

PubMed

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disease characterized by bradykinesia, tremor and/ or rigidity, often with gait disturbance and postural instability. In addition to these typical features, patients with PD may experience further problems related to the disease itself or to the medications used to treat it. These comorbid problems include neuropsychiatric conditions (including psychosis, hallucinations, excessive daytime sleepiness, anxiety, depression, fatigue and dementia) as well as problems associated with autonomic nervous system function such as bowel and bladder function. PD can also present in emergency situations with a 'neuroleptic malignant like picture' and acute psychosis. It is not uncommon to see motor fluctuations due to drug interactions and 'withdrawal' symptoms following dose reduction of dopamine agonists. In patients with PD, disturbances of mental state constitute some of the most difficult treatment challenges of advanced disease, often limiting effective treatment of motor symptoms and leading to increased disability and poor quality of life. While some of these symptoms may be alleviated by antiparkinsonian medication, especially if they are 'off-period' related, treatment-related phenomena are usually exacerbated by increasing the number or dosage of antiparkinsonian drugs. Elimination of exacerbating factors and simplification of drug regimens are the first and most important steps in improvement of such symptoms. PMID:24364059

Arora, A; Fletcher, P

2013-01-01

439

Actinomyces in Chronic Granulomatous Disease: An Emerging and Unanticipated Pathogen  

PubMed Central

Background Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system that causes defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections, mostly by catalase-producing organisms. We report for the first time, to our knowledge, chronic infections with Actinomyces species in 10 patients with CGD. Actinomycosis is a chronic granulomatous condition that commonly manifests as cervicofacial, pulmonary, or abdominal disease, caused by slowly progressive infection with oral and gastrointestinal commensal Actinomyces species. Treatment of actinomycosis is usually simple in immunocompetent individuals, requiring long-term, high-dose intravenous penicillin, but is more complicated in those with CGD because of delayed diagnosis and an increased risk of chronic invasive or debilitating disease. Methods Actinomyces was identified by culture, staining, 16S ribosomal DNA polymerase chain reaction, and/ or a complement fixation test in 10 patients with CGD. Results All 10 patients presented with a history of fever and elevated inflammatory signs without evident focus. Diagnosis was delayed and clinical course severe and protracted despite high-dose intravenous antibiotic therapy and/or surgery. These results suggest an unrecognized and unanticipated susceptibility to weakly pathogenic Actinomyces species in patients with CGD because these are catalase-negative organisms previously thought to be nonpathogenic in CGD. Conclusions Actinomycosis should be vigorously sought and promptly treated in patients with CGD presenting with uncommon and prolonged clinical signs of infection. Actinomycosis is a catalase-negative infection important to consider in CGD.

Reichenbach, Janine; Lopatin, Uri; Mahlaoui, Nizar; Beovic, Bojana; Siler, Ulrich; Zbinden, Reinhard; Seger, Reinhard A.; Galmiche, Louise; Brousse, Nicole; Kayal, Samer; Gungor, Tayfun; Blanche, Stephane; Holland, Steven M.

2014-01-01

440

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

2004-11-01

441

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

PubMed Central

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

Nagaraj, Gayathri; Zarbalian, Yousef; Flora, Karin

2014-01-01

442

Veno-occlusive disease in a child with rhabdomyosarcoma after conventional chemotherapy: report of a case and review of the literature.  

PubMed

Although veno-occlusive disease of the liver is a well-known complication of high-dose chemotherapy and bone marrow transplantation, it has rarely been observed in children who receive conventional chemotherapy. Most cases in the literature consists of children with Wilms tumor. It has been very uncommon in rhabdomyosarcoma patients until recently, although they commonly receive similar anticancer agents. Here the authors report a 2-year-old boy with rhabdomyosarcoma who developed veno-occlusive disease while receiving VAC (vincristine, actinomycin D, cyclophosphamide) chemotherapy regimen according to the IRS-IV protocol. The patient gradually recovered during 2 weeks with supportive treatment only. PMID:18092252

Cecen, Emre; Uysal, Kamer Mutafoglu; Ozguven, Aykan; Gunes, Dilek; Irken, Gulersu; Olgun, Nur

2007-12-01

443

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

444

Rhabdomyolysis, renal failure, pericardial effusion, and acquired von Willebrand disease resulting from hypothyroidism in a 10-year-old girl.  

PubMed

A 10-year-old girl manifested unexplained muscle aches and high creatine phosphokinase (CPK) concentrations attributed to rhabdomyolysis in association with severe hypothyroidism due to autoimmune thyroiditis. The response to therapy strongly suggested that hypothyroidism was the cause of rhabdomyolysis. Hypothyroidism is a rare cause of rhabdomyolysis. It should always be considered in a patient with muscular symptoms and elevated CPK concentrations. In addition, the patient developed other uncommon manifestations of hypothyroidism such as pericardial effusion, acute renal failure, and acquired von Willebrand disease. After thyroxine replacement, the symptoms and abnormal findings disappeared. The patient was also diagnosed as having celiac disease, which is often associated with autoimmune thyroiditis. Conditions accompanying autoimmune thyroid disease may result from altered thyroid function and from the presence of other autoimmune diseases. The butterfly-shaped thyroid gland has a tremendous impact on metabolism, which may be compared to a phenomenon termed the "Butterfly Effect". PMID:18341381

Galli-Tsinopoulou, Assimina; Stylianou, Charilaos; Kokka, Paraskevi; Paraskevi, Kokka; Panagopoulou, Paraskevi; Paraskevi, Panagopoulou; Nousia-Arvanitakis, Sanda

2008-03-01

445

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

PubMed Central

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

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

2014-01-01

446

Mitochondrial disease  

Microsoft Academic Search

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

Roser Pons; Darryl C. De Vivo

2001-01-01

447

Lyme disease antibody  

MedlinePLUS

Lyme disease serology; ELISA for Lyme disease; Western blot for Lyme disease ... see: Venipuncture . A laboratory specialist will look for Lyme disease antibodies in the blood sample using the ELISA ...

448

Sex and Heart Disease  

MedlinePLUS

Sex and Heart Disease Updated:Mar 2,2012 Is sex safe for heart disease patients? Readjusting to everyday ... disease, also called cardiovascular disease, will affect your sex life — or if it’s safe to have sex ...

449

About Alzheimer's Disease: Symptoms  

MedlinePLUS

... more about other early signs of Alzheimer's » Mild Alzheimer's disease As the disease progresses, memory loss worsens, ... disease is often diagnosed at this stage. Moderate Alzheimer's disease In this stage, damage occurs in areas ...

450

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

451

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

452

Tangier Disease  

PubMed Central

Tangier disease is a rare familial disorder characterized by enlarged orange tonsils, transient peripheral neuropathy, hepatosplenomegaly, and lymphadenopathy, as well as striking reductions in plasma high density lipoproteins (HDL) and their major protein constituents, apolipoproteins (apo)A-I and A-II. In order to test the hypothesis that Tangier patients have abnormal apoA-I or apoA-II, the in vitro lipoprotein binding and in vivo metabolic characteristics of these proteins isolated from normal and Tangier plasma, were studied in normal subjects and patients with Tangier disease. After incubation with normal plasma, significantly greater percentages of radiolabeled Tangier apoA-I were associated with the 1.063-g/ml supernate (6%) and the 1.21 g/ml infranate (19%), and a lower percentage with HDL (75%), than those observed for normal apoA-I (2, 8, and 90%, respectively). In contrast, the lipoprotein binding properties of normal and Tangier apoA-II were very similar. Following the injection of radiolabeled normal and Tangier apoA-I into normal subjects (n = 4), the mean residence times of the specific activity for apoA-ITangier were significantly lower, both in plasma (1.29 d) and in HDL (1.34 d), than those observed for normal apoA-I (3.80 and 4.06 d). In Tangier homozygotes the decay rates of these tracers were very rapid and were similar. No significant differences between the kinetics of normal and Tangier apoA-II were observed in normal subjects (n = 2). Tangier homozygotes (n = 3) had mean plasma HDL cholesterol, apoA-I, and apoA-II concentrations that were 4, 2, and 11% of normal (n = 24), respectively, whereas for heterozygotes (n = 3) these values were 46, 62, and 68% of normal. In homozygotes, in contrast to normals or heterozygotes, a significant fraction of both apoA-I and apoA-II were found in the 1.063-g/ml supernate instead of in HDL. Homozygotes had apoA-ITangier synthesis rates and residence times that were 41 and 5% of values observed for normal apoA-I in normal subjects, and for apoA-II in homozygotes, these parameters were 63 and 18% of normal. Heterozygotes had apoA-I synthesis rates and residence times that were 92 and 66% of normal, and for apoA-II these values were 101 and 64% of normal. These data are consistent with the concept that apoA-ITangier is functionally and metabolically distinct from normal apoA-I, and is the cause of the striking hypercatabolism of apoA-I and apoA-II, and the lipoprotein abnormalities observed in Tangier disease.

Schaefer, Ernst J.; Kay, Linda L.; Zech, Loren A.; Brewer, H. Bryan

1982-01-01

453

[Castleman disease].  

PubMed

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

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

2004-01-01

454

[Papillomavirus diseases].  

PubMed

Papillomaviruses are prevalent throughout the world. They can cause warts or papillomas. Some papillomaviruses are also involved in the pathogenesis of malignant tumors. Cutaneous and anogenital warts are the most frequent viral disease of the skin. The incidence of verrucae vulgaris and condylomata is estimated to be 7-10% in the European population and 1% in the American population. HPV infections can be verified by clinical examination, cytology and histology, detection of antibodies, molecular techniques and directly via viral structures. Antibodies against HPV are considered markers for prolonged infection and cumulatively high expression of viral particles since they persist with low titers years after a lesion has resolved. Sensitivity only reaches 50-60% even in HPV DNA-positive patients. Serodiagnosis does not appear to be appropriate for routine practice. No virustatic treatment exists. Depending on wart-specific factors, compliance of the patient, and experience of the attending therapist, all ablative, chemodestructive or novel immuno modulatory procedures are comparable. However, there are enormous differences in price and effort required for treatment, which should be considered when choosing the method. PMID:15316638

Hengge, U R

2004-09-01

455

[The simultaneous appearance of three uncommon tumours].  

PubMed

A 70-year-old woman presented with nasal obstruction and pain projecting onto the left cheek. The face seemed asymmetric including exophthalmus on the right side. Nasal endoscopic inspection revealed a sarcomatous tumor located on the middle turbinate. The CT showed that the tumor filled the left maxillary sinus completely and had eroded the maxillary bone. In addition, a round, sharply defined intraorbital neoplasm on the right side was identified in the contrast-enhanced MRI. Histological examination of the extirpated intraorbital tumour showed a neurilemmoma. A tissue biopsy of the intranasal tumour falsely suggested an intestinal adenocarcinoma. Multiple neoplasms suspicious of disseminated lung metastases were detected in the CT of the thorax. One round lesion removed by thoracoscopy revealed a carcinoid. The intranasal tumour was excised completely and the histology proved beyond doubt an inverted papilloma. PMID:23532516

Brandstätter, J; Gall, S; Chavan, A; Ermert, L; Scriba, D; Hoppe, F

2014-03-01

456

Diffuse neurofibroma - an uncommon cause of alopecia*  

PubMed Central

Although infrequent, alopecia can be caused by benign cutaneous tumours. Neurofibromas are common benign tumors that originate in the peripheral nerve sheath. Diffuse neurofibroma is a rare variant of neurofibroma that is thought to occur mainly in the head and neck of children and young adults. Histology generally shows an infiltrative tumor, composed of spindle cells in the dermis and subcutaneous tissue. Despite being rare, malignant transformation has been reported. The association between diffuse neurofibromas and neurofibromatosis type 1 still remains to be determined since some authors question the low incidence usually described. We report the case of a 42-year-old man who had a diffuse neurofibroma on the scalp presenting as alopecic plaques.

Macias, Vasco Coelho; Rafael, Margarida; Fernandes, Candida; Rosa, Joaninha Costa

2013-01-01

457

An Uncommon Guide to College Union Programming.  

ERIC Educational Resources Information Center

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

Sturgell, J. S.

458

Nature's uncommon elements: Plutonium and technetium  

NASA Astrophysics Data System (ADS)

Natural 99Tc and 239Pu were measured in ores from the Cigar Lake uranium deposit, in which U concentrations ranged from 0.3 to 55 wt%. Atomic ratios ranged from 1.4 × 10 -12 to 51 × 10 -12 for 99Tc/U and 2.4 × 10 -12 to 44 × 10 -12 for 239Pu/U. Measured concentrations are compared to those expected if the ores had behaved as closed systems with respect to U and its products. Under conditions of secular equilibrium in closed systems, 99Tc and 239Pu concentrations are solely a function of the neutron flux, U content, and decay rates. The neutron production rate and physical and chemical parameters that control the in situ neutron flux were measured in several samples. Neutron transport modeling of the sample environs using the MCNP code indicated that about half of the samples showed apparent excesses of 99Tc and 239Pu beyond the amounts predicted for secular equilibrium. Although production by neutron-capture on 98Mo complicates the accuracy of the 99Tc predictions, the excess quantities nonetheless strongly suggest the redistribution of these elements within the deposit. The failure to observe complementary deficiencies within the deposit suggests that the redistribution processes enriched the elements, removing small proportions of the elements from large uraniferous masses of rock, and concentrating them in smaller, less uraniferous, masses. The consistency of 239Pu/U and 99Tc/U ratios in bulk rock suggests that the redistribution processes observed at Cigar Lake are highly localized and in no case result in large-scale losses or gains of these nuclear products from the deposit as a whole.

Curtis, David; Fabryka-Martin, June; Dixon, Paul; Cramer, Jan

1999-01-01

459

Sexsomnia: an uncommon variety of parasomnia.  

PubMed

Sexsomnia is considered a particular form of parasomnia characterized by atypical sexual behaviour during sleep. Only a few cases have been reported in the literature. We describe here two cases of sexsomnia that took place in adult women whose personal history was remarkable for traumatic sexual psychological stress during childhood. In addition, the first patient had a medical history of alcoholism during adolescence and current sleepwalking. In the second patient, drug consumption was reported during adolescence, and psychiatric assessment found a major depressive disorder. Neurological examination was normal for both patients. The sexual behaviour was reported by the bed partner because of total amnesia of the event by the patients. Events included moaning, vocalizations with dirty talk, masturbation, sexual assault, and sexual intercourse. The behaviour was harmful for the bed partner in the second case. For both patients, electroencephalogram and brain magnetic resonance imaging were normal whereas nocturnal polysomnography recordings revealed several abrupt and spontaneous arousals from slow-wave sleep. Patients were successfully treated by serotonin reuptake inhibitors. Our observations underline the fact that efforts need to be made to increase awareness of the issue of sexsomnia, in order to identify patients suffering from this atypical parasomnia, which can be associated with adverse psychological consequences and serious medico-legal issues. PMID:19765888

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

2010-01-01

460

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

461

Intestinal chondrolipoma: uncommon cause of bowel obstruction.  

PubMed

A case of intestinal obstruction caused by jejunal chondrolipoma in an 11-year-old boy is presented. To the best of our knowledge, this seems to be the first report of chondrolipoma arising from the small bowel in English language literatures. PMID:17923184

Jung, Hye-Ra; Park, Woo-Hyun; Choi, Soon-Ok; Kwon, Kun-Young; Lee, Sang-Sook

2007-10-01