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Sample records for tissue disease presenting

  1. Undifferentiated connective tissue disease presenting with prevalent interstitial lung disease: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Sfriso Paolo

    2011-06-01

    Full Text Available Abstract Undifferentiated connective tissue diseases (UCTDs are clinical entities characterised by signs and symptoms suggestive of a systemic autoimmune disease, which do not fulfil the diagnostic criteria for a defined connective tissue disease. Lung involvement can complicate the course and management of the disease, often determining a worse outcome. Respiratory dysfunction as the first clinical manifestation has seldom been reported. We describe a case of a female patient who developed significant respiratory dysfunction as the principal clinical sign. Video-assisted thoracoscopy was performed and a histological pattern of nonspecific interstitial pneumonia (NSIP was found. A pathological diagnosis suggested careful follow-up with extensive immunological screening which then detected Raynaud's phenomenon and positivity of antinuclear antibodies. After a multidisciplinary discussion (pneumologist, radiologist, pathologist and rheumatologist a final diagnosis of NSIP associated with UCTD was made. The diagnosis of UCTD should be considered when NSIP is diagnosed even in cases with evident first clinical manifestations of severe respiratory dysfunction. A multidisciplinary approach in the field of interstitial lung disease with NSIP, also including rheumatologic expertise, is fundamental to achieve a prompt and correct diagnosis.

  2. Coeliac disease - clinical presentation and diagnosis by anti tissue transglutaminase antibodies titre in children

    International Nuclear Information System (INIS)

    Hussain, S.; Sabir, M.U.D.; Afzal, M.; Asghar, I.

    2014-01-01

    Objective: To study the spectrum of clinical presentation of coeliac disease and the role of IgA anti-tissue transglutaminase antibodies titer in the diagnosis and effect of gluten-free diet on such titers in children. Methods: The prospective study was conducted in the paediatric department of Combined Military Hospital, Kharian from Sep 2011 to Sep 2012. Children of 1-12 years of age presenting with chronic diarrhoea, malnutrition and failure to thrive were included regardless of gender, socioeconomic status, ethnicity and geographical distribution. Anti-tissue transglutaminase antibodies titers were done on enrolment. Patients with levels more than 30u/ml were enrolled. They were advised strict gluten-free diet for six months. These titers were repeated after six months to document the effect of gluten-free diet on these titers. Paediatric endoscopy and duodenal biopsy facilities were not available at the study site, so the response was monitored through titers. Data was analysed using SPSS-20. Results: Out of 61 patients with IgA levels more than 10 u/ml, 52 (85.24%) were found to have a positive (>30u/ml) anti-tissue transglutaminase antibodies titers with a mean value of 42.67+-7.60 U/ml. These 52 patients were then put on a trial of gluten-free diet for six months after which significant reduction in titer was noticed, with a mean value of 13.25+-2.59 U/ml. This reduction in titer was associated with marked clinical improvement and regression of symptoms. Frequency of different clinical features in descending order revealed that chronic diarrhoea, abdominal distension, iron deficiency anaemia, failure to thrive, pallor and rickets were present in 38 (73.1%), 30 (57.7%), 29 (55.8%), 29 (53.8%), 28 (53.8%) patients respectively. Conclusion: Chronic diarrhoea, failure to thrive, pallor, abdominal distention and iron deficiency anaemia were common modes of presentation. The antibodies were strongly positive in most of the cases. All children showed significant

  3. CONNECTIVE-TISSUE DISEASE IN PATIENTS PRESENTING WITH RAYNAUDS-PHENOMENON ALONE

    NARCIS (Netherlands)

    Kallenberg, Cees

    1991-01-01

    Raynaud's phenomenon is due to the constriction of small, digital arteries on exposure mainly to cold and may occur in isolation or in relation to connective tissue disease. Is there any connection between the two varieties? Sadly the answer may be yes in a substantial number. Those who go on to

  4. Mucosa-associated lymphoid tissue lymphoma with initial supradiaphragmatic presentation: natural history and patterns of disease progression

    International Nuclear Information System (INIS)

    Liao Zhongxing; Ha, Chul S.; McLaughlin, Peter; Manning, John T.; Hess, Mark; Cabanillas, Fernando; Cox, James D.

    2000-01-01

    Purpose: Mucosa-associated lymphoid tissue (MALT) lymphoma commonly presents in the gastrointestinal (GI) tract. Supradiaphragmatic MALT lymphoma is less common and its natural history is not well defined. This study was conducted to understand the natural history, to determine the frequency of synchronous disease in the GI tract, and to understand the patterns of disease progression after treatment for supradiaphragmatic MALT lymphoma. Patients and Methods: We retrospectively reviewed the medical records of 39 patients who presented with supradiaphragmatic MALT lymphoma between 1991 and 1997. Results: The median age of patients was 58 years (range, 25-90 years) with 16 male and 23 female patients. The most common primary site was salivary gland followed by ocular adnexa, lung, oral cavity, and others. Sixteen patients underwent esophagogastroduodenoscopy and biopsy (EGD + Bx) and 4 were found to have gastric involvement. Ann Arbor stages were the following: IEA, 17; IIEA, 5, IIEB, 1; and IVA, 16. The initial treatments were: involved field radiation therapy (n = 10), chemotherapy (n = 14), combination of radiation therapy and chemotherapy (n = 9), observation after biopsy (n = 4), antibiotics only (n = 1), and patient refusal of further intervention (n = 1). Seven patients received antibiotics as a part of the initial treatment. Every patient except for 1 was alive at a median follow-up of 39.5 months (range, 3-83 months). Thirty-six patients achieved complete response (CR) to the initial treatment. The actuarial 5-year progression-free survival rate was 83%. Progression of the disease occurred in 4 patients, with 2 in the stomach. Salvage attempts were made to 4 and were successful in 3. Of the 2 patients who relapsed in the stomach, 1 had negative EGD + Bx at the time of initial diagnosis. An EGD + Bx was not done in the second patient. Conclusion: Supradiaphragmatic MALT lymphoma appears to have a favorable prognosis. However, routine evaluation of the stomach

  5. Atypical presentations of celiac disease

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    Balasa Adriana Luminita

    2016-08-01

    Full Text Available In this study we evaluated the association of celiac disease in 81 children with autoimmune disease and genetic syndromes over a two years periods (January 2014 to July 2016 in Pediatric Clinic in Constanta. Because the extraintestinal symptoms are an atypical presentation of celiac disease we determined in these children the presence of celiac disease antibodies: Anti-tissue Transglutaminase Antibody IgA and IgA total serum level as a screening method followeds in selective cases by Anti-tissue Transglutaminase Antibody IgG, anti-endomysial antibodies, deamidated gliadin antibodies IgA and IgG and intestinal biopsia. In our study 8 patients had been diagnosed with celiac disease with extraintestinal symptoms, of which 4 with type 1 diabetes, 1 patient with ataxia, 2 patients with dermatitis herpetiformis and 1 patient with Down syndrome that associate also autoimmune thyroiditis, alopecia areata, enamel hypoplasia.

  6. Mixed Connective Tissue Disease

    Science.gov (United States)

    ... complicated. Early signs and symptoms often involve the hands. Fingers might swell like sausages, and the fingertips become white and numb. In later stages, some organs — such as the lungs, heart and kidneys — may be affected. There's no cure for mixed connective tissue disease. The signs and ...

  7. Pulmonary function in patients presenting with Raynaud's phenomenon without an underlying connective tissue disease : A prospective, longitudinal study

    NARCIS (Netherlands)

    AALBERS, R; Groen, Henk; POSTMA, Dirkje S.; VANDERMARK, TW; Wouda, A. A.; Reig, R. P.; Kallenberg, C. G.

    Forty-two patients presenting with Raynaud's phenomenon (RP) were prospectively evaluated for pulmonary function changes over a 6-year followup period. Fifteen patients had secondary RP at presentation, 27 patients had nonsecondary RP. In the latter group, decreased pulmonary diffusing capacity

  8. Mixed connective tissue disease.

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    Gunnarsson, Ragnar; Hetlevik, Siri Opsahl; Lilleby, Vibke; Molberg, Øyvind

    2016-02-01

    The concept of mixed connective tissue disease (MCTD) as a separate connective tissue disease (CTD) has persisted for more than four decades. High titers of antibodies targeting the U1 small nuclear ribonucleoprotein particle (U1 snRNP) in peripheral blood are a sine qua non for the diagnosis of MCTD, in addition to distinct clinical features including Raynaud's phenomenon (RP), "puffy hands," arthritis, myositis, pleuritis, pericarditis, interstitial lung disease (ILD), and pulmonary hypertension (PH). Recently, population-based epidemiology data from Norway estimated the point prevalence of adult-onset MCTD to be 3.8 per 100,000 and the mean annual incidence to be 2.1 per million per year, supporting the notion that MCTD is the least common CTD. Little is known about the etiology of MCTD, but recent genetic studies have confirmed that MCTD is a strongly HLA (​human leukocyte antigen)-linked disease, as the HLA profiles of MCTD differ distinctly from the corresponding profiles of ethnically matched healthy controls and other CTDs. In the first section of this review, we provide an update on the clinical, immunological, and genetic features of MCTD and discuss the relationship between MCTD and the other CTDs. Then we proceed to discuss the recent advances in therapy and our current understanding of prognosis and prognostic factors, especially those that are associated with the more serious pulmonary and cardiovascular complications of the disease. In the final section, we discuss some of the key, unresolved questions related to anti-RNP-associated diseases and indicate how these questions may be approached in future studies. Copyright © 2016. Published by Elsevier Ltd.

  9. Undiagnosed connective tissue diseases

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    Cavagna, Lorenzo; Codullo, Veronica; Ghio, Stefano; Scirè, Carlo Alberto; Guzzafame, Eleonora; Scelsi, Laura; Rossi, Silvia; Montecucco, Carlomaurizio; Caporali, Roberto

    2016-01-01

    Abstract Among different subgroups of pulmonary arterial hypertension (PAH), those associated with connective tissue diseases (CTDs) have distinct hemodynamic and prognostic features; a correct etiologic diagnosis is thus mandatory. To estimate frequency and prognosis of previously undiagnosed CTDs in a suspect idiopathic (i) PAH cohort. Consecutive patients with PAH confirmed by right heart catheterization referred at the Cardiology Division of our Hospital without a previous rheumatological assessment or the occurrence of other conditions explaining PAH were checked for CTD by a clinical, laboratory, and instrumental evaluation. Survival in each group has also been analyzed. In our study 17 of 49 patients were classified as CTD-PAH, corresponding to a prevalence (95% CI) of 34.7% (21.7–49.6%). ANA positivity had 94% (71.3–99.9%) sensitivity and 78.1% (60–90.7%) specificity for a diagnosis of CTD-PAH; Raynaud phenomenon (RP) showed 83.3% (51.6–97.9%) sensitivity and 100% (90.5–100%) specificity for the diagnosis of Systemic Sclerosis (SSc)-PAH. At diagnosis, SSc patients were older and had a lower creatinine clearance compared with iPAH and other CTD-PAH. After a median follow-up of 44 (2–132) months, 18 of 49 (36.7%) patients died: 31.2% in the iPAH group, 20% in the CTD-, and 58.3% in the SSc-PAH group. Mortality was significantly higher in SSc-PAH (HR 3.32, 1.11–9.95, P <0.05) versus iPAH. We show a high prevalence of undiagnosed CTDs in patients with iPAH without a previous rheumatological assessment. All patients with RP were diagnosed with SSc. Our data stress the importance of a rheumatological assessment in PAH, especially because of the unfavorable prognostic impact of an associated SSc. PMID:27684814

  10. Bone Tissue Engineering: Past-Present-Future.

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    Quarto, Rodolfo; Giannoni, Paolo

    2016-01-01

    Bone is one of the few tissues to display a true potential for regeneration. Fracture healing is an obvious example where regeneration occurs through tightly regulated sequences of molecular and cellular events which recapitulate tissue formation seen during embryogenesis. Still in some instances, bone regeneration does not occur properly (i.e. critical size lesions) and an appropriate therapeutic intervention is necessary. Successful replacement of bone by tissue engineering will likely depend on the recapitulation of this flow of events. In fact, bone regeneration requires cross-talk between microenvironmental factors and cells; for example, resident mesenchymal progenitors are recruited and properly guided by soluble and insoluble signaling molecules. Tissue engineering attempts to reproduce and to mimic this natural milieu by delivering cells capable of differentiating into osteoblasts, inducing growth factors and biomaterials to support cellular attachment, proliferation, migration, and matrix deposition. In the last two decades, a significant effort has been made by the scientific community in the development of methods and protocols to repair and regenerate tissues such as bone, cartilage, tendons, and ligaments. In this same period, great advancements have been achieved in the biology of stem cells and on the mechanisms governing "stemness". Unfortunately, after two decades, effective clinical translation does not exist, besides a few limited examples. Many years have passed since cell-based regenerative therapies were first described as "promising approaches", but this definition still engulfs the present literature. Failure to envisage translational cell therapy applications in routine medical practice evidences the existence of unresolved scientific and technical struggles, some of which still puzzle researchers in the field and are presented in this chapter.

  11. Radiological approach to systemic connective tissue diseases

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    Wiesmann, W.; Schneider, M.

    1988-07-01

    Systemic lupus erythematosus (SLE) and progressive systemic sclerosis (PSS) represent the most frequent manifestations of systemic connective tissue diseases (collagen diseases). Radiological examinations are employed to estimate the extension and degree of the pathological process. In addition, progression of the disease can be verified. In both of the above collagen diseases, specific radiological findings can be observed that permit them to be differentiated from other entities. An algorithm for the adequate radiological work-up of collagen diseases is presented.

  12. Castleman's disease, an unusual presentation

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    Shital Munde

    2015-01-01

    The present report describes a 30-year-old serving male who presented with pain abdomen and on and off episodes ofmelena, found to have peripancreatic lymphadenopathy on CECT abdomen. Ultrasound guided FN AC was done in private hospital revealed reactive lymphadenopathy. Excision biopsy was done in our institute and a diagnosis of Castleman's disease was made.

  13. MRI evaluation of soft tissue hydatid disease

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    Garcia-Diez, A.I.; Ros Mendoza, L.H.; Villacampa, V.M.; Cozar, M.; Fuertes, M.I. [Dept. of Radiology, Hospital Miguel Servet, Zaragoza (Spain)

    2000-03-01

    Infestation in soft tissue by Echinococcus granulosus is not a common disease, and its diagnosis is based on clinical, laboratory data and radiological findings. The aim of our retrospective study is to give an overview of the different signs and patterns shown by MRI that can be useful in characterizing soft tissue hydatid disease. The MRI images obtained in seven patients with soft tissue and subcutaneous hydatidosis were reviewed. Typical signs of hydatidosis were multivesicular lesions with or without hypointense peripheral ring (''rim sign''). Related to the presence and absence, respectively, of viable scolices in the microscopic exam, daughter cysts were presented either as high signal intensity or low signal intensity on T2-weighted images. Low-intensity detached layers within the cyst and peripheral enhancement with gadolinium-DTPA were also presented. Atypical signs were presented in an infected muscular cyst, a subcutaneous unilocular cyst and several unilocular cysts. Knowledge of the different patterns in MRI of soft tissue hydatid disease can be useful in diagnosing this entity. We observed that the ''rim sign'' is not as common as in other locations, and in addition, MRI seems to be of assistance when evaluating the vitality of the cysts. (orig.)

  14. Radiotherapy in patients with connective tissue diseases.

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    Giaj-Levra, Niccolò; Sciascia, Savino; Fiorentino, Alba; Fersino, Sergio; Mazzola, Rosario; Ricchetti, Francesco; Roccatello, Dario; Alongi, Filippo

    2016-03-01

    The decision to offer radiotherapy in patients with connective tissue diseases continues to be challenging. Radiotherapy might trigger the onset of connective tissue diseases by increasing the expression of self-antigens, diminishing regulatory T-cell activity, and activating effectors of innate immunity (dendritic cells) through Toll-like receptor-dependent mechanisms, all of which could potentially lead to breaks of immune tolerance. This potential risk has raised some debate among radiation oncologists about whether patients with connective tissue diseases can tolerate radiation as well as people without connective tissue diseases. Because the number of patients with cancer and connective tissue diseases needing radiotherapy will probably increase due to improvements in medical treatment and longer life expectancy, the issue of interactions between radiotherapy and connective tissue diseases needs to be clearer. In this Review, we discuss available data and evidence for patients with connective tissue diseases treated with radiotherapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Kimura's disease: A case presentation of postauricular swelling ...

    African Journals Online (AJOL)

    Kimura's disease: A case presentation of postauricular swelling. A Rajesh, T Prasanth, V.C. Naga Sirisha, M.D.S. Azmi. Abstract. Kimura's disease (KD) is a rare chronic inflammatory disease of subcutaneous tissues and occurs predominantly in head and neck region. It is seen primarily in young Asian males. Typical clinical ...

  16. Presenting Pattern of Pediatric Celiac Disease.

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    Khatib, Maan; Baker, Robert D; Ly, Erin K; Kozielski, Rafal; Baker, Susan S

    2016-01-01

    Celiac disease (CD) is an autoimmune disease that can be complicated by impaired nutrition and growth. With the development of sensitive serologic tests, safe endoscopy, and efforts to educate primary care physicians, more children are diagnosed as having CD. The aim of this study is to evaluate the pattern of the presentation of pediatric CD in western New York. Chart review of pediatric patients with CD was undertaken. Patients' demographics, presenting features, disaccharidase assay (DA), celiac serology, and Marsh score were reviewed from patients seen at the Digestive Diseases and Nutrition Center, State University of New York at Buffalo from January 2003 through March 2013. A total of 165 patients with CD were evaluated. Mean age was 10.7 ± 4.3 years, 76 male patients. The presenting features were abdominal pain (n = 87, 52.7%), constipation (n = 65, 38.9%), diarrhea (n = 52, 31.1%), family history of first-degree relative (n = 47, 28.1%), diabetes mellitus type 1 (n = 37, 22.2%), failure to thrive (n = 36, 21.8%), reflux (n = 25, 15.1%), vomiting (n = 24, 14.5%), fatigue (n = 15, 9%), short stature (n = 9, 5.4%), thyroid disease (n = 9, 5.4%), Down syndrome (n = 8, 4.8%). We found no correlation between Marsh score and serum tissue transglutaminase (tTG) immunoglobulin (Ig) A level at diagnosis and no correlation between DA and serum tTG IgA level, presenting feature and tTG IgA level, presenting feature and Marsh score, tTG IgA and DA, or between the age and the presenting feature. Children newly diagnosed as having CD in western New York presented most frequently with abdominal pain and constipation and were older at the time of diagnosis than those described in the classical presentation of CD. We speculate that our patients may have a different long-term natural history and risk factors than originally described for patients with CD.

  17. Endosonographic Changes, present in the Hirschprung disease

    International Nuclear Information System (INIS)

    Fogel, Roberto; Poleo, Jose; Bonilla, Idalys; Frontera de Fogel, Juana

    2002-01-01

    Until now, echoendoscopy has been described by exploring the anal sphincter, perirectal space, evaluating the quality of the muscular tissue, the anorectal walls, the perirectal space and the genital organs, as well as their usefulness in defining sub-epithelial lesions of the rectum and vascular invasion in the stadium of carcinomas. The main interest in this article is the exploration of the thickness and echogenicity of the rectosygmoid wall in Hirschprung's disease. Two cases of Hirschprung's disease were presented. One 68-year-old patient presented with chronic constipation in which barium radiology showed fecal impaction and rectosygmoidal dilation. Ultrasonic endoscopy showed a reduction in ecolayer 4 as compared with the rest of the layers. Subsequently, a second pediatric six year old patient with constipation in whom radiology and 15 MHz ultrasound echocatheter endoscopy showed that the greatest increase measured 2 mm, as opposed to the other echolayers which measured double that figure. It was concluded that, in patients with clinically and radiological suspected Hirschprung's, USE may be carried out and thus demonstrate the reduction in echolayer 4. It is necessary to increase the number of cases and compare them with a control group to verify these findings

  18. Oral manifestations of connective tissue disease and novel therapeutic approaches.

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    Heath, Kenisha R; Rogers, Roy S; Fazel, Nasim

    2015-10-16

    Connective tissue diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and Sjögren syndrome (SS) have presented many difficulties both in their diagnosis and treatment. Known causes for this difficulty include uncertainty of disease etiology, the multitude of clinical presentations, the unpredictable disease course, and the variable cell types, soluble mediators, and tissue factors that are believed to play a role in the pathogenesis of connective tissue diseases. The characteristic oral findings seen with these specific connective tissue diseases may assist with more swift diagnostic capability. Additionally, the recent use of biologics may redefine the success rate in the treatment and management of the disease. In this review we describe the oral manifestations associated with SLE, SSc, and SS and review the novel biologic drugs used to treat these conditions.

  19. Vasculitis associated with connective tissue diseases.

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    Cozzani, E; Gasparini, G; Papini, M; Burlando, M; Drago, F; Parodi, A

    2015-04-01

    Vasculitis in connective tissue disease (CTD) is quite rare, it is reported in approximately 10% of patients with CTD; systemic lupus erythematosus (SLE) shows the highest association rate. Vessels of any size may be involved, but mainly small vessels vasculitis is reported. At present the classification of these vasculitis is unsatisfactory. According to the 2012 revised International Chapel Hill Consensus Conference, vasculitides secondary to CTD are a well identified entity and are classified under the category of "vasculitis associated with systemic disease". However only lupus vasculitis and rheumatoid vasculitis are explicitly listed, while the remaining are generically included under the heading "others". Petechiae, purpura, gangrene and ulcers are the most frequent cutaneous manifestations that should investigated in order to rule out potentially dangerous systemic involvement, especially if cryoglobulinemic or necrotizing vasculitis are suspected. This review will focus on the cutaneous involvement in CTD associated vasculitis.

  20. Autoimmune connective tissue diseases and vaccination

    Directory of Open Access Journals (Sweden)

    Ewa Więsik-Szewczyk

    2015-12-01

    Full Text Available The idea that infectious agents can induce autoimmune diseases in genetically susceptible subjects has been a matter of discussion for years. Moreover, increased incidence of autoimmune diseases and introduction of prophylactic vaccinations from early childhood suggest that these two trends are linked. In the medical literature and even non-professional media, case reports or events temporally related to vaccination are reported. It raises the issue of vaccination safety. In everyday practice medical professionals, physicians, rheumatologists and other specialists will be asked their opinion of vaccination safety. The decision should be made according to evidence-based medicine and the current state of knowledge. The purpose of this paper is to discuss a potential mechanism which links infections, vaccinations and autoimmunity. We present an overview of published case reports, especially of systemic connective tissue diseases temporally related to vaccination and results from case-nested studies. As yet, no conclusive evidence supports a causal relationship between vaccination and autoimmune diseases. It has to be determined whether the performed studies are sufficiently Epsteinasensitive to detect the link. The debate is ongoing, and new data may be required to explain the pathogenesis of autoimmunity. We would like to underscore the need for prophylactic vaccination in patients with autoimmune rheumatic diseases and to break down the myth that the vaccines are contraindicated in this target group.

  1. Rheumatoid interstitial lung disease presenting as cor pulmonale.

    Science.gov (United States)

    Acharya, Sourya; Mahajan, S N; Shukla, Samarth; Diwan, S K; Banode, Pankaj; Kothari, Nirmesh

    2010-10-01

    Rheumatiod arthritis (RA) is a multisystem connective tissue disorder. The predominant presentation is polyarticular, symmetric peripheral arthritis with relative sparing of axial skeleton. Inflammatory synovitis is the pathologic hallmark. Extra-articular manifestations of RA can involve several other organ systems and amongst them pulmonary manifestations occur commonly. We report a case of rheumatoid interstitial lung disease presenting as cor pulmonale.

  2. Rheumatoid interstitial lung disease presenting as cor pulmonale

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    Acharya Sourya

    2010-01-01

    Full Text Available Rheumatiod arthritis (RA is a multisystem connective tissue disorder. The predominant presentation is polyarticular, symmetric peripheral arthritis with relative sparing of axial skeleton. Inflammatory synovitis is the pathologic hallmark. Extra-articular manifestations of RA can involve several other organ systems and amongst them pulmonary manifestations occur commonly. We report a case of rheumatoid interstitial lung disease presenting as cor pulmonale.

  3. Clinical presentation of adult coeliac disease.

    LENUS (Irish Health Repository)

    Tajuddin, T

    2012-02-01

    The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

  4. Pregnancy and autoimmune connective tissue diseases

    Science.gov (United States)

    Marder, Wendy; Littlejohn, Emily A

    2016-01-01

    The autoimmune connective tissue diseases predominantly affect women and often occur during the reproductive years. Thus, specialized issues in pregnancy planning and management are commonly encountered in this patient population. This chapter provides a current overview of pregnancy as a risk factor for onset of autoimmune disease, considerations related to the course of pregnancy in several autoimmune connective tissue diseases, and disease management and medication issues before and during pregnancy and the postpartum period. A major theme that has emerged across these inflammatory diseases is that active maternal disease during pregnancy is associated with adverse pregnancy outcomes, and that maternal and fetal health can be optimized when conception is planned during times of inactive disease and through maintaining treatment regimens compatible with pregnancy. PMID:27421217

  5. Clinical presentation of juvenile Huntington disease

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    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  6. Celiac Disease Presenting with Immune Thrombocytopenic Purpura

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    Hakan Sarbay

    2017-01-01

    Full Text Available Celiac disease (CD is an immunological disorder. Clinical manifestations occur as a result of intestinal mucosa damage and malabsorption. CD is also associated with extraintestinal manifestations and autoimmune disorders. The coexistence of CD and autoimmune diseases has been described before. In this article, a patient with CD presenting with thrombocytopenia is discussed.

  7. Chronic Wasting Disease Positive Tissue Bank

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    Wright, Scott D.

    2007-01-01

    In 2005, the USGS National Wildlife Health Center entered into an agreement with the Wyoming Game and Fish Department and the Department of Veterinary Sciences at the University of Wyoming to produce a collection of positive tissues from cervids intentionally infected with chronic wasting disease. This agreement was facilitated through the University of Wyoming Cooperative Fish and Wildlife Unit. Also, the investigators on this project sampled the animals incrementally over 2 years to show changes over time, and examined tissues from the animals by immunohistochemistry. CWD positive tissues are catalogued by species, sample site and time of infection. These data and more will soon be published.

  8. Immunoglobulin D myeloma presenting as an extraosseous soft tissue tumor

    International Nuclear Information System (INIS)

    Mochizuki, Kazuo; Katayama, Kunisuke; Kikuchi, Fumihito; Saito, Ikuo; Homori, Masashi

    2001-01-01

    We report a 69-year-old man who suffered an extraosseous tumor of immunoglobulin D myeloma (lambda type) in the shoulder girdle, mimicking a primary soft tissue sarcoma. The tumor was isointense with adjacent muscle on T1-weighted MR images, and hyperintense on T2-weighted images. No continuity with the neighboring bone was noted. After administration of gadolinium, the central part of the tumor showed marked contrast enhancement. Although the tumor showed a complete response to the initial chemotherapy, the patient died of the disease 31 months after its initial manifestation. Several bone marrow aspirations and biopsies of the ilium and sternum has shown no increase in plasma cells (range 0.6-1.2%) until the disease became advanced 19 months after its initial manifestation. (orig.)

  9. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  10. Non-neoplastic conditions presenting as soft-tissue tumours

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    Crundwell, N. [Royal National Orthopaedic Hospital, Stanmore, Middlesex (United Kingdom); O' Donnell, P. [Royal National Orthopaedic Hospital, Stanmore, Middlesex (United Kingdom); Saifuddin, A. [Royal National Orthopaedic Hospital, Stanmore, Middlesex (United Kingdom)]. E-mail: asif.saifuddin@rnoh.nhs.uk

    2007-01-15

    Review of referrals to our unit over the last 7 years showed that of approximately 750 cases referred as soft-tissue tumours, 132 were subsequently diagnosed as non-neoplastic lesions. The imaging characteristics of these lesions are presented to differentiate them from neoplasms. The most common diagnoses were myositis ossificans, ganglion cyst, abscess/infection, bursitis and synovitis. The imaging features of other rarer conditions will also be discussed.

  11. Non-neoplastic conditions presenting as soft-tissue tumours

    International Nuclear Information System (INIS)

    Crundwell, N.; O'Donnell, P.; Saifuddin, A.

    2007-01-01

    Review of referrals to our unit over the last 7 years showed that of approximately 750 cases referred as soft-tissue tumours, 132 were subsequently diagnosed as non-neoplastic lesions. The imaging characteristics of these lesions are presented to differentiate them from neoplasms. The most common diagnoses were myositis ossificans, ganglion cyst, abscess/infection, bursitis and synovitis. The imaging features of other rarer conditions will also be discussed

  12. Menkes Disease Presenting with Epilepsia Partialis Continua

    Directory of Open Access Journals (Sweden)

    Tamer Rizk

    2014-01-01

    Full Text Available Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400 is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A. Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

  13. Lung involvement in systemic connective tissue diseases

    Directory of Open Access Journals (Sweden)

    Plavec Goran

    2008-01-01

    Full Text Available Background/Aim. Systemic connective tissue diseases (SCTD are chronic inflammatory autoimmune disorders of unknown cause that can involve different organs and systems. Their course and prognosis are different. All of them can, more or less, involve the respiratory system. The aim of this study was to find out the frequency of respiratory symptoms, lung function disorders, radiography and high-resolution computerized tomography (HRCT abnormalities, and their correlation with the duration of the disease and the applied treatment. Methods. In 47 non-randomized consecutive patients standard chest radiography, HRCT, and lung function tests were done. Results. Hypoxemia was present in nine of the patients with respiratory symptoms (20%. In all of them chest radiography was normal. In five of these patients lung fibrosis was established using HRCT. Half of all the patients with SCTD had symptoms of lung involvement. Lung function tests disorders of various degrees were found in 40% of the patients. The outcome and the degree of lung function disorders were neither in correlation with the duration of SCTD nor with therapy used (p > 0.05 Spearmans Ro. Conclusion. Pulmonary fibrosis occurs in about 10% of the patients with SCTD, and possibly not due to the applied treatment regimens. Hypoxemia could be a sing of existing pulmonary fibrosis in the absence of disorders on standard chest radiography.

  14. An unusual presentation of an uncommon disease

    Directory of Open Access Journals (Sweden)

    Michael Funk

    2009-11-01

    Full Text Available Michael Funk2, Orlando Santana1,21Department of Cardiology, 2Mt. Sinai Medical Center, Miami Beach, Fl, USAAbstract: Extrapulmonary manifestations of sarcoidosis often go undiagnosed. Sarcoidosis should be considered in the differential diagnosis of cases presenting with parotid gland swelling, renal failure, and hypercalcemia. It’s imperative to confirm the diagnosis with a tissue biopsy, as the condition is easily treatable with steroids.Keywords: sarcoidosis, parotid gland, renal failure, hypercalcemia, steroids

  15. Forestier's disease presenting with dysphagia and disphonia.

    Science.gov (United States)

    Najib, Jaafar; Goutagny, Stephane; Peyre, Mathieu; Faillot, Thierry; Kalamarides, Michel

    2014-01-01

    Forestier's disease, also known as diffuse idiopathic skeletal hyperostosis (DISH), is a pathology of vertebral bodies characterised by exuberant osteophytis formation. Forestier's disease is usually managed conservatively. Surgical resection of the osteophytes is reported to be an effective treatment for severe cases and/ or cases with airway obstruction. We report a 55-year-old man presenting with 6 months' progressive dysphagia and dysphonia. He was managed successfully with an anterior cervical osteophytectomy without fusion. A literature review is included.

  16. A Rare Presentation of Crohn's Disease

    Directory of Open Access Journals (Sweden)

    Sriram Bhat M

    2008-01-01

    Full Text Available Free peritoneal perforation is a rare complication of Crohn's disease with a report of only 100 cases in the literature. It needs an emergency exploration and an unaware general surgeon is confounded in intraoperative decision-making. We present our experience when this rarity struck us in a district hospital and briefly review the guidelines of optimal management of this complication of Crohn's disease.

  17. Connective Tissue Disease in a Malawian Man

    African Journals Online (AJOL)

    31Ward Round 2. Introduction. We describe a case of systemic connective tissue disease (CTD) in a Malawian man in whom an autoimmune etiology was likely. Autoimmune CTDs ... Case Presentantion. A 17 year-old student was referred to Queen Elizabeth ... X rays of the hands are shown in Figure 2. The most striking.

  18. Clinical presentation of meningococcal disease in childhood.

    Science.gov (United States)

    Sabatini, C; Bosis, S; Semino, M; Senatore, L; Principi, N; Esposito, S

    2012-06-01

    Although relatively rare, meningococcal disease represents a global health problem being still the leading infectious cause of death in childhood with an overall mortality around 8%. Meningococcal meningitis is the most commonly recognized presentation, accounting for 80% to 85% of all reported cases of meningococcal disease (in half of these cases sepsis is also present concomitantly). The remaining 15-20% of cases are most commonly bloodstream infections only. Meningococcal serogroups A, B, and C account for most cases of meningococcal disease throughout the world. Recently, serogroups W-135 and X (predominantly in Africa) and group Y (in the United States and European countries) have emerged as important disease-causing isolates. Despite recent advances in medical management, the mortality rate of fulminant meningococcemia ranges from 15% to 30%. However, among survivors, 10-30% could have long term sequelae (i.e. sensoneural hearing loss, seizure, motor problems, hydrocephalus, mental retardation, and cognitive and behavioral problems). Considering the clinical severity of meningococcal disease, prevention represents the first approach for avoiding serious complications and possible deaths. The availability of new vaccines able to cover the emerging serotypes including A and Y as well as the availability on the market of new products that could prevent meningococcal B infection represent a great opportunity for the decrease of the burden of this complicated disease.

  19. [Venous thromboembolic disease: presentation of a case].

    Science.gov (United States)

    Mirpuri-Mirpuri, P G; Álvarez-Cordovés, M M; Pérez-Monje, A

    2013-01-01

    Venous thromboembolic disease in its clinical spectrum includes both deep vein thrombosis and pulmonary thromboembolism, which is usually a complication of deep vein thrombosis. It is a relatively common disease with significant morbidity and requires an accurate diagnosis. They are numerous risk factors for venous thromboembolism, and there is evidence that the risk of thromboembolic disease increases proportionally to the number of predisposing risk factors present. The primary care physician should know the risk factors and suspect the presence of venous thromboembolic disease when there is a compatible clnical picture. The treatment for this pathology is anticoagulation. We report a patient with cardiovascular risk factors who was seen with pain in the right leg and shortness of breath and referred to the hospital with suspected venous thromboembolism, atrial fibrillation and pleural effusion. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  20. Morgellons Disease Presenting As an Eyelid Lesion.

    Science.gov (United States)

    Sandhu, Rasanamar K; Steele, Eric A

    2016-01-01

    Morgellons disease is characterized by complaints of uncomfortable skin sensations and fibers emanating from nonhealing skin lesions. Morgellons disease is well-known in the dermatology and psychiatry literature, where it is typically considered a subtype of delusional parasitosis, but it has not yet been described in the ophthalmology literature. A patient with self-reported Morgellons disease is presented, who was referred for evaluation of left lower eyelid ectropion. She reported that her skin was infested with fibers that were "trying to get down into the eyelid." On examination, she had ectropion of the left lower eyelid, broken cilia, and an ulcerated left upper eyelid lesion concerning for carcinoma. Biopsy of the lesion was consistent with excoriation. Treatment of her ectropion was deferred out of concern for wound dehiscence, given the patient's aggressive excoriation behavior. This case is presented to make the ophthalmologist aware of this disorder and to highlight the appropriate clinical management.

  1. Aluminium in brain tissue in familial Alzheimer's disease.

    Science.gov (United States)

    Mirza, Ambreen; King, Andrew; Troakes, Claire; Exley, Christopher

    2017-03-01

    The genetic predispositions which describe a diagnosis of familial Alzheimer's disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer's disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to aluminium and aluminium has been shown to be present in brain tissue in sporadic Alzheimer's disease. We have made the first ever measurements of aluminium in brain tissue from 12 donors diagnosed with familial Alzheimer's disease. The concentrations of aluminium were extremely high, for example, there were values in excess of 10μg/g tissue dry wt. in 5 of the 12 individuals. Overall, the concentrations were higher than all previous measurements of brain aluminium except cases of known aluminium-induced encephalopathy. We have supported our quantitative analyses using a novel method of aluminium-selective fluorescence microscopy to visualise aluminium in all lobes of every brain investigated. The unique quantitative data and the stunning images of aluminium in familial Alzheimer's disease brain tissue raise the spectre of aluminium's role in this devastating disease. Copyright © 2016 The Authors. Published by Elsevier GmbH.. All rights reserved.

  2. SECONDARY PULMONARY ARTERIAL HYPERTENSION IN SYSTEMIC DISEASES OF CONNECTIVE TISSUE

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2016-01-01

    Full Text Available Modern definition of pulmonary arterial hypertension (PAH as well as data on prevalence and incidence of secondary PAH in systemic disease of connective tissue is presented,  including data of USA, France and Scotland registers. The main chains of pathogenesis, classification approaches, clinical features and diagnostics are described. 

  3. SECONDARY PULMONARY ARTERIAL HYPERTENSION IN SYSTEMIC DISEASES OF CONNECTIVE TISSUE

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2009-01-01

    Full Text Available Modern definition of pulmonary arterial hypertension (PAH as well as data on prevalence and incidence of secondary PAH in systemic disease of connective tissue is presented,  including data of USA, France and Scotland registers. The main chains of pathogenesis, classification approaches, clinical features and diagnostics are described. 

  4. [Wilson disease - factors affecting clinical presentation].

    Science.gov (United States)

    Litwin, Tomasz; Członkowska, Anna

    2013-01-01

    Wilson disease (WD) is a genetic disorder with copper metabolism disturbances leading to copper accumulation in many organs with their secondary damage. It is caused by mutation in the ATP7B gene on chromosome 13, which encodes ATP-ase 7B involved in copper transport. The age of neurologic symptom onset in WD is 20-30 years, but there is a wide spectrum of disease including: age at onset, clinical signs and treatment efficacy. More than 500 mutations of ATP7B have been described so far, but the WD genotype does not explain the disease variability. Several other factors are suspected to influence WD presentation, including polymorphisms in the genes encoding: apolipoprotein E, prion-related protein, methyltenetetrahydrofolate reductase, Murr1, antioxidant-1, X-linked inhibitor of apoptosis as well as iron metabolism disturbances, gender impact, inflammatory reactions and oxidative stress. The explanation of their significance can change the therapy of WD. The aim of our study was to review and assess the clinical significance of the factors affecting WD presentation.

  5. Ebola virus disease: past, present and future

    Directory of Open Access Journals (Sweden)

    Harish Rajak

    2015-05-01

    Full Text Available Ebola virus disease is one of the most deadly ailments known to mankind due to its high mortality rate (up to 90% accompanying with the disease. Ebola haemorrhagic fever (EHF is an infectious disease of animal that can be transmitted to both human and non-human primates. The first epidemic of EHF occurred in 1976 in the Democratic Republic of the Congo. The incubation period of ebola is less than 21 days. Ebola virus infections are depicted by immune suppression and a systemic inflammatory response that leads to damage of the vascular, coagulation and immune systems, causing multi-organ failure and shock. Five genetically distinct members of the Filoviridae family responsible for EHF are as follows: Zaire ebolavirus, Sudan ebolavirus, Côte d’Ivoire ebolavirus, Bundibugyo ebolavirus and Reston ebolavirus. The ongoing 2014 West Africa ebola epidemic has been considered as the most serious panic in the medical field with respect to both the number of human cases and death toll. The natural host for ebola virus is unknown, thus it is not possible to carry out programs to regulate or abolish virus from transmission to people. The ebola virus infection provides little chance to develop acquired immunity causing rapid progression of the disease. It is pertinent to mention that at present, there is no antiviral therapy or vaccine that is helpful against ebola virus infection in humans. The impediment of EHF necessitates much better understanding of the epidemiology of the disease, particularly the role of wildlife, as well as bats, in the spread of ebola virus to humans.

  6. Tissue banking in Asia Pacific region: past, present and future.

    Science.gov (United States)

    Nather, Aziz; Mandy, Foong Shi Yun; Ning, Tan; Kaiying, Wang

    2018-04-25

    Tissue banking in the Asia Pacific regions is driven by two main forces-firstly the International Atomic Energy Agency (IAEA) via Regional Co-operative Agreement projects and secondly by the Asia Pacific Association of Surgical Tissue Banking (APASTB). This overview is written in three sections: (1) History of tissue banking in individual country in the region. (2) History of APASTB. (3) History of IAEA programme in Asia Pacific region. The current status and future of the tissue banking programme in the region will be discussed.

  7. Common presentation of rare diseases: Aortic aneurysms & valves.

    Science.gov (United States)

    Arbustini, Eloisa; Favalli, Valentina; Di Toro, Alessandro; Giuliani, Lorenzo; Limongelli, Giuseppe

    2018-04-15

    The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes. The probands should receive genetic counseling, genetic testing [single gene in case of precise phenotyping addressing the gene to be tested, or multigene panels, in case of diseases with genetic heterogeneity], post-test counseling, clinical family screening and cascade genetic testing in relatives after the identification of a causative mutation. Segregation studies are essential in case of novel mutations, in particular non-truncation predicting variants. Clinical family screening of syndromic diseases is facilitated by the evaluation of non-cardiovascular traits; this supports early diagnosis and geno-phenotype correlation. Vice versa, family screening studies in non-syndromic aneurysmal and valvular diseases exclusively relies on CV imaging screening of relatives. In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Primary brain lymphoma presenting as Parkinson's disease

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  9. Connective Tissue Degeneration: Mechanisms of Palmar Fascia Degeneration (Dupuytren's Disease)

    NARCIS (Netherlands)

    Karkampouna, S.; Kreulen, M.; Obdeijn, M. C.; Kloen, P.; Dorjée, A. L.; Rivellese, F.; Chojnowski, A.; Clark, I.; Kruithof-de Julio, Marianna

    2016-01-01

    Dupuytren's disease is a connective tissue disorder of the hand causing excessive palmar fascial fibrosis with associated finger contracture and disability. The aetiology of the disease is heterogeneous, with both genetic and environmental components. The connective tissue is abnormally infiltrated

  10. GRAFT VERSUS HOST DISEASE- ORAL PRESENTATION

    Directory of Open Access Journals (Sweden)

    Pradeep P. S

    2017-09-01

    Full Text Available BACKGROUND Graft-versus-host disease (GVHD is described as a potentially life-threatening complication caused by allogeneic haematopoietic cell transplantation. It is an exaggerated manifestation of a normal inflammatory mechanism in which donor lymphocytes encounter foreign antigens in an atmosphere that promote inflammation. 90% of the patients show oral features in case of cGVHD. Oral mucosal lesions and salivary gland dysfunction are the main oral features of chronic GVHD. Trismus or reduction of the mouth opening due to the perioral deposition of collagen is also commonly seen. Purpose of this review is to understand pathophysiology of oral presentations of GVHD. MATERIALS AND METHODS Review related to GVHD pathophysiology, oral lesions after haematopoietic cell transplant encompassed literature from 1966 through 2015. Review of Medline/PubMed Journals were done. RESULTS It is difficult to describe the pathophysiology of oral manifestations because there is no well accepted definition. CONCLUSION Larger well-designed clinical studies are needed to understand the pathobiology of oral cGVHD and determine best treatments for this disease.

  11. Tissue engineering and regenerative medicine: past, present, and future.

    Science.gov (United States)

    Salgado, António J; Oliveira, Joaquim M; Martins, Albino; Teixeira, Fábio G; Silva, Nuno A; Neves, Nuno M; Sousa, Nuno; Reis, Rui L

    2013-01-01

    Tissue and organ repair still represents a clinical challenge. Tissue engineering and regenerative medicine (TERM) is an emerging field focused on the development of alternative therapies for tissue/organ repair. This highly multidisciplinary field, in which bioengineering and medicine merge, is based on integrative approaches using scaffolds, cell populations from different sources, growth factors, nanomedicine, gene therapy, and other techniques to overcome the limitations that currently exist in the clinics. Indeed, its overall objective is to induce the formation of new functional tissues, rather than just implanting spare parts. This chapter aims at introducing the reader to the concepts and techniques of TERM. It begins by explaining how TERM have evolved and merged into TERM, followed by a short overview of some of its key aspects such as the combinations of scaffolds with cells and nanomedicine, scaffold processing, and new paradigms of the use of stem cells for tissue repair/regeneration, which ultimately could represent the future of new therapeutic approaches specifically aimed at clinical applications. © 2013 Elsevier Inc. All rights reserved.

  12. Behcet’s Disease: Presented with Genital Ulcer

    Directory of Open Access Journals (Sweden)

    Sayma Afroz

    2015-09-01

    Full Text Available Behcet’s disease which can affect almost every organ system of the body and is diagnosed mainly clinically is a rare condition. The presence of certain clinical features, elimination of other possible causes of patient’s symptoms and if possible proof of vasculitis by biopsy of an involved tissue supports a diagnosis. We report a young female presented with 7-day history of vulval ulcer and erythema nodosum. Diagnosis was made according to International Study Group criteria for Behcet’s disease and histological findings. She was treated with corticosteroid, colchicine and dapsone which caused significant clinical improvement. We report this case to increase awareness among physicians on Behcet’s disease to improve its management.

  13. A rare presentation of an ectopic breast tissue in axilla

    Directory of Open Access Journals (Sweden)

    Radhika Vidyasagar

    2015-10-01

    Full Text Available Accessory breast tissue is rare accounting to less than 1% cases seen in females. It is usually bilateral. We report a case of 24-year-old woman with a lump in the left axilla in view of its rarity and made a differential diagnosis of fibroadenoma, which following the investigations and histopathological report was confirmed as revealed fibroadenoma in the axilla. It should also be considered as a differential diagnosis for all axillary swellings.

  14. Haematopoietic tissue presenting as a sphenoid sinus mass: case report

    International Nuclear Information System (INIS)

    Joseph, M.; Rajshekhar, V.; Chandy, M.J.

    2000-01-01

    We report an incidentally discovered mass in the sphenoid sinus in a patient with beta thalassaemia and sickle-cell disease which proved to be an isolated site of extramedullary haematopoiesis in the skull. (orig.)

  15. Haematopoietic tissue presenting as a sphenoid sinus mass: case report

    Energy Technology Data Exchange (ETDEWEB)

    Joseph, M.; Rajshekhar, V.; Chandy, M.J. [Dept. of Neurological Sciences, Christian Medical College Hospital, Vellore (India)

    2000-02-01

    We report an incidentally discovered mass in the sphenoid sinus in a patient with beta thalassaemia and sickle-cell disease which proved to be an isolated site of extramedullary haematopoiesis in the skull. (orig.)

  16. Uncommon Presentation Of Bowen′s Disease

    Directory of Open Access Journals (Sweden)

    Dawn Goutam

    1995-01-01

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

  17. Generalized connective tissue disease in Crtap-/- mouse.

    Directory of Open Access Journals (Sweden)

    Dustin Baldridge

    2010-05-01

    Full Text Available Mutations in CRTAP (coding for cartilage-associated protein, LEPRE1 (coding for prolyl 3-hydroxylase 1 [P3H1] or PPIB (coding for Cyclophilin B [CYPB] cause recessive forms of osteogenesis imperfecta and loss or decrease of type I collagen prolyl 3-hydroxylation. A comprehensive analysis of the phenotype of the Crtap-/- mice revealed multiple abnormalities of connective tissue, including in the lungs, kidneys, and skin, consistent with systemic dysregulation of collagen homeostasis within the extracellular matrix. Both Crtap-/- lung and kidney glomeruli showed increased cellular proliferation. Histologically, the lungs showed increased alveolar spacing, while the kidneys showed evidence of segmental glomerulosclerosis, with abnormal collagen deposition. The Crtap-/- skin had decreased mechanical integrity. In addition to the expected loss of proline 986 3-hydroxylation in alpha1(I and alpha1(II chains, there was also loss of 3Hyp at proline 986 in alpha2(V chains. In contrast, at two of the known 3Hyp sites in alpha1(IV chains from Crtap-/- kidneys there were normal levels of 3-hydroxylation. On a cellular level, loss of CRTAP in human OI fibroblasts led to a secondary loss of P3H1, and vice versa. These data suggest that both CRTAP and P3H1 are required to maintain a stable complex that 3-hydroxylates canonical proline sites within clade A (types I, II, and V collagen chains. Loss of this activity leads to a multi-systemic connective tissue disease that affects bone, cartilage, lung, kidney, and skin.

  18. Unusual presentation of chondroblastoma mimicking Trevor's disease

    Directory of Open Access Journals (Sweden)

    Y Karkhur

    2017-01-01

    Full Text Available Chondroblastoma is a benign bone tumor, represents 1%–2% of all primary bone tumors, typically seen in patients 10–25-year-old and more common in males. It occurs most frequently in the distal femur, proximal tibia, and proximal humerus. Soft tissue extension is extremely rare. Adjacent joints may develop effusions, but the tumor mass protruding into the joint has never been seen in case of chondroblastoma. We report a rare case of intra-articular chondroblastoma arising from proximal tibia in a 16-year-old boy and growing into the knee joint mimicking an intra-articular osteochondroma.

  19. [Connective tissue diseases in hospital practice in Ouagadougou (Burkina Faso)].

    Science.gov (United States)

    Ouédraogo, D D; Korsaga-Somé, N; Zabsonné Tiendrébéogo, J; Tiéno, H; Kaboré, H; Niamba, P; Drabo, J

    2014-01-01

    To describe the semiological and immunological features of connective tissue diseases seen at the Yalgado Ouédraogo University Hospital in Ouagadougou. A retrospective study reviewed the records of patients seen in the hospital dermatology and internal medicine departments from January 1, 2004, through December 31, 2009 and diagnosed with systemic lupus erythematosus (SLE), systemic sclerosis (ScS), dermatopolymyositis (DPM), primary Gougerot-Sjögren disease (GS), polymyositis (PM) or indeterminate connective tissue disease (ICTD) meeting the criteria of the American College of Rheumatology. The study included 42 patients, 36 women and 6 men. Their mean age was 41.2 years ±11.97 (range: 15-75). SLE was the diagnosis for 10 patients, ScS for 14, DPM for 7, primary GS for 1, PM for 1, and ICTD for 9. Hematologic (93%), cutaneous (88%), and rheumatologic (81%) abnormalities were the most frequent manifestations. The specific auto-antibodies associated with SLE patients were: anti-native DNA (3/6), anti-Sm (3/6), anti-RNP (3/6), and anti-SSA (4/6); anti-Scl 70 antibodies were present in 5 patients with ScS. Connective tissue diseases seem to be rare in Africa, south of the Sahara. However, the very fragmentary studies and the weak healthcare coverage do not allow any definitive conclusions.

  20. Fetal presentation of Morquio disease type A.

    Science.gov (United States)

    Beck, M; Braun, S; Coerdt, W; Merz, E; Young, E; Sewell, A C

    1992-12-01

    A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.

  1. Ulcerative colitis and Crohn's disease tissue cytotoxins

    Energy Technology Data Exchange (ETDEWEB)

    McLaren, L.C.; Gitnick, G.

    1982-06-01

    Bowel-wall tissue filtrates from patients with inflammatory bowel disease produce cytopathic effects in tissue culture. The cytopathic effects inducers have been reported to have the characteristics of a small RNA virus. Clostridium difficile toxin also produces cytopathic effects and has been found in the stools of patients with Crohn's disease and ulcerative colitis. The present study concerns the further characterization of the cytopathic inducers in tissues of inflammatory bowel disease patients. It was found that they are nonsedimentable at 148,000 g for 2 h and resistant to inactivation by UV light. They are proteins that are distinct from C. difficile toxin and are unique cytotoxins which are associated with the early cytopathic effects observed in Riff-free chick embryo and rabbit ileum cell cultures. These results suggest that the early cytopathic effects previously described are not produced by a virus. They do not explain the delayed cytopathic effects seen in rabbit ileum or WI-38 cells.

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

    Directory of Open Access Journals (Sweden)

    Jay A Roberts

    2016-01-01

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

  3. Unusual presentation of isolated tricuspid valve disease

    Directory of Open Access Journals (Sweden)

    Anil Sharma

    2014-01-01

    Full Text Available Here we present a case 20 year old boy with isolated calcific tricuspid stenosis (TS and tricuspid regurgitation (TR underwent TV replacement with bioprosthetic valve. After 3 months patient was presented in our emergency with sudden cyanosis, dyspnea at rest, TS and the large patent foramen ovale with large right to left shunt. Patient was re-operated, bioprothetic valve was explanted and mechanical valve was implanted. Patient developed acquired dysfibrogenemia in early post-op period with valvular dysfunction.

  4. Not What It Seems: Deep Tissue Infection Presenting as Cellulitis

    Directory of Open Access Journals (Sweden)

    Caroline T. Brandon

    2015-10-01

    Full Text Available A 34-year-old male with diabetes presented to the emergency department with four days of progressively worsening redness, swelling and pain to his left buttock. The patient denied fevers, chills, rectal pain or purulent drainage from his rectum. His initial vital signs were heart rate of 82; blood pressure of 146/92; and temperature of 98.2°F. The left buttock had a poorly circumscribed area of induration; however, there was no fluctuance or crepitace. Rectal exam was unremarkable. Because the patient’s buttock pain was disproportionate to his exam findings, a point-of-care ultrasound was performed to determine if a more extensive process was present. The ultrasound demonstrated cobblestoning, fascial thickening with edema, and a large 4.5cm fluid collection extending and adjacent to the rectum.

  5. Apical Negative Pressure irrigation presents tissue compatibility in immature teeth

    Directory of Open Access Journals (Sweden)

    Carolina Maschietto Pucinelli

    Full Text Available Abstract Aim: To compare the apical negative pressure irrigation (ANP with conventional irrigation in the teeth of immature dogs with apical periodontitis. Methods: Fifty-two immature pre-molar root canals were randomly assigned into 4 groups: ANP (n=15; conventional irrigation (n=17; healthy teeth (control (n = 10; and teeth with untreated apical periodontitis (control (n=10. After induction of apical periodontitis, teeth were instrumented using EndoVac® (apical negative pressure irrigation or conventional irrigation. The animals were euthanized after 90 days. The sections were stained by HE and analyzed under conventional and fluorescence microscopy. TRAP histoenzymology was also performed. Statistical analyses were performed with the significance level set at 5%. Results: There was difference in the histopathological parameters between ANP and conventional groups (p0.05. However, a lower number of osteoclasts was observed in the ANP group (p<0.05. Conclusion: The EndoVac® irrigation system presented better biological results and more advanced repair process in immature teeth with apical periodontitis than the conventional irrigation system, confirming the hypothesis.

  6. Adipose tissue, the skeleton and cardiovascular disease

    International Nuclear Information System (INIS)

    Wiklund, Peder

    2011-01-01

    Cardiovascular disease (CVD) is the leading cause of death in the Western World, although the incidence of myocardial infarction (MI) has declined over the last decades. However, obesity, which is one of the most important risk factors for CVD, is increasingly common. Osteoporosis is also on the rise because of an aging population. Based on considerable overlap in the prevalence of CVD and osteoporosis, a shared etiology has been proposed. Furthermore, the possibility of interplay between the skeleton and adipose tissue has received increasing attention the last few years with the discovery that leptin can influence bone metabolism and that osteocalcin can influence adipose tissue. A main aim of this thesis was to investigate the effects of fat mass distribution and bone mineral density on the risk of MI. Using dual-energy x-ray absorptiometry (DEXA) we measured 592 men and women for regional fat mass in study I. In study II this was expanded to include 3258 men and women. In study III 6872 men and women had their bone mineral density measured in the total hip and femoral neck using DEXA. We found that a fat mass distribution with a higher proportion of abdominal fat mass was associated with both an adverse risk factor profile and an increased risk of MI. In contrast, a higher gynoid fat mass distribution was associated with a more favorable risk factor profile and a decreased risk of MI, highlighting the different properties of abdominal and gynoid fat depots (study I-II). In study III, we investigated the association of bone mineral density and risk factors shared between CVD and osteoporosis, and risk of MI. We found that lower bone mineral density was associated with hypertension, and also tended to be associated to other CVD risk factors. Low bone mineral density was associated with an increased risk of MI in both men and women, apparently independently of the risk factors studied (study III). In study IV, we investigated 50 healthy, young men to determine if

  7. Adipose tissue, the skeleton and cardiovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Wiklund, Peder

    2011-07-01

    Cardiovascular disease (CVD) is the leading cause of death in the Western World, although the incidence of myocardial infarction (MI) has declined over the last decades. However, obesity, which is one of the most important risk factors for CVD, is increasingly common. Osteoporosis is also on the rise because of an aging population. Based on considerable overlap in the prevalence of CVD and osteoporosis, a shared etiology has been proposed. Furthermore, the possibility of interplay between the skeleton and adipose tissue has received increasing attention the last few years with the discovery that leptin can influence bone metabolism and that osteocalcin can influence adipose tissue. A main aim of this thesis was to investigate the effects of fat mass distribution and bone mineral density on the risk of MI. Using dual-energy x-ray absorptiometry (DEXA) we measured 592 men and women for regional fat mass in study I. In study II this was expanded to include 3258 men and women. In study III 6872 men and women had their bone mineral density measured in the total hip and femoral neck using DEXA. We found that a fat mass distribution with a higher proportion of abdominal fat mass was associated with both an adverse risk factor profile and an increased risk of MI. In contrast, a higher gynoid fat mass distribution was associated with a more favorable risk factor profile and a decreased risk of MI, highlighting the different properties of abdominal and gynoid fat depots (study I-II). In study III, we investigated the association of bone mineral density and risk factors shared between CVD and osteoporosis, and risk of MI. We found that lower bone mineral density was associated with hypertension, and also tended to be associated to other CVD risk factors. Low bone mineral density was associated with an increased risk of MI in both men and women, apparently independently of the risk factors studied (study III). In study IV, we investigated 50 healthy, young men to determine if

  8. Detection of occult disease in tissue donors by routine autopsy.

    Science.gov (United States)

    Otero, J; Fresno, M F; Escudero, D; Seco, M; González, M; Peces, R

    1998-01-01

    The transmission of infectious and neoplastic diseases is a potential risk of tissue allografting. In this study, we analyzed the occurrence of occult disease in tissue donors as detected by standard screening and autopsy. Whereas 18% of the potential donors initially evaluated were eliminated on the basis of their medical and social histories, laboratory screening and autopsy revealed that an additional 9% of tissue donors had undetected, transmissible disease that prohibited tissue donation. This report emphasizes once again the risk of occult disease being transplanted with grafts and the need for autopsy to reduce the likelihood of this occurring. If donor selection, appropriate screening tests, and autopsy are carefully carried out, the risk of transmitting diseases from tissue allografts can be kept to a minimum.

  9. [INVESTIGATION OF THE LEVEL OF MINERAL DENSITY OF SKELETAL OSSEOUS TISSUE IN PATIENTS WITH PERIODONTAL TISSUE DISEASES].

    Science.gov (United States)

    Hodovana, O I

    2015-01-01

    Results of investigation of mineral density condition of skeletal osseous tissue in patients with inflammatory and dystrophic-inflammatory diseases of periodontal tissues with ultrasound densitometry method have been presented. Various changes of osseous tissue of skeletal bones have been detected: osteopenia, osteoporosis and osteosclerosis, which correlated with the severity of pathological process in periodontium. Analysis of the obtained results has been carried out depending on patients' sex as well as form and severity degree of the course of periodontal diseases. It has been established that the peak of detected impairments of mineral density in the skeleton is due to osteopenia, the degree of severity of which deteriorates with the severity of pathological process in periodontal tissues, especially in women.

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

    OpenAIRE

    Roberts, Jay A.; Meyer, Jon-Paul

    2016-01-01

    Thromboangiitis obliterans is an uncommon nonatherosclerotic segmental inflammatory disease that predominantly affects the small and medium-sized arteries and veins of the distal extremities. It was first described in 1879 and is also known as Buerger's disease. Buerger's usually begins with ischemia of small vessels producing digital infarcts and may progress to more proximal arteries and veins, producing claudication of the feet, legs, hands, or arms. Tobacco smoking is essential to the ini...

  11. Significance of connective tissue diseases features in pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Vincent Cottin

    2013-09-01

    Full Text Available Interstitial lung disease (ILD can occur in any of the connective tissue diseases (CTD with varying frequency and severity, and an overall long-term prognosis that is less severe than that of idiopathic pulmonary fibrosis (IPF. Because ILD may be the presenting manifestation of CTD and/or the dominant manifestation of CTD, clinical extra-thoracic manifestations should be systematically considered in the diagnostic approach of ILD. When present, autoantibodies strongly contribute to the recognition and classification of the CTD. Patients with clinical extrathoracic manifestations of CTD and/or autoantibodies (especially with a high titer and/or the antibody is considered “highly specific” of an autoimmune condition, but who do not fit with established international CTD criteria may be called undifferentiated CTD or “lung-dominant CTD”. Although it remains to be determined which combination of symptoms and serologic tests best identify the subset of patients with clinically relevant CTD features, available evidence suggests that such patients may have distinct clinical and imaging presentation and may portend a distinct clinical course. However, autoantibodies alone when present in IPF patients do not seem to impact prognosis or management. Referral to a rheumatologist and multidisciplinary discussion may contribute to management of patients with undifferentiated CTD.

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

    African Journals Online (AJOL)

    diverticular disease ofthe colon in blacks. T. MOKOENA, T. E. MADIBA. APstract Haemqrrhage is one ofthe less common presenta- tions of diverticular disease. This retrospective 5- year study of 23 patients has identified it as the main presentation (74%) among South African blacks in whom the disease is uncommon, but.

  13. Two cases of Kawasaki disease presented with acute febrile jaundice.

    Science.gov (United States)

    Kaman, Ayşe; Aydın-Teke, Türkan; Gayretli-Aydın, Zeynep Gökçe; Öz, Fatma Nur; Metin-Akcan, Özge; Eriş, Deniz; Tanır, Gönül

    2017-01-01

    Kawasaki disease is an acute, systemic vasculitis of unknown etiology. Although gastrointestinal involvement does not belong to the classic diagnostic criteria; diarrhea, abdominal pain, hepatic dysfunction, hydrops of gallbladder, and acute febrile cholestatic jaundice are reported in patients with Kawasaki disease. We describe here two cases presented with fever, and acute jaundice as initial features of Kawasaki disease.

  14. Advanced sickle cell associated interstitial lung disease presenting ...

    African Journals Online (AJOL)

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

  15. Understanding multicellular function and disease with human tissue-specific networks

    Science.gov (United States)

    Greene, Casey S.; Krishnan, Arjun; Wong, Aaron K.; Ricciotti, Emanuela; Zelaya, Rene A.; Himmelstein, Daniel S.; Zhang, Ran; Hartmann, Boris M.; Zaslavsky, Elena; Sealfon, Stuart C.; Chasman, Daniel I.; FitzGerald, Garret A.; Dolinski, Kara; Grosser, Tilo; Troyanskaya, Olga G.

    2016-01-01

    Tissue and cell-type identity lie at the core of human physiology and disease. Understanding the genetic underpinnings of complex tissues and individual cell lineages is crucial for developing improved diagnostics and therapeutics. We present genome-wide functional interaction networks for 144 human tissues and cell types developed using a data-driven Bayesian methodology that integrates thousands of diverse experiments spanning tissue and disease states. Tissue-specific networks predict lineage-specific responses to perturbation, reveal genes’ changing functional roles across tissues, and illuminate disease-disease relationships. We introduce NetWAS, which combines genes with nominally significant GWAS p-values and tissue-specific networks to identify disease-gene associations more accurately than GWAS alone. Our webserver, GIANT, provides an interface to human tissue networks through multi-gene queries, network visualization, analysis tools including NetWAS, and downloadable networks. GIANT enables systematic exploration of the landscape of interacting genes that shape specialized cellular functions across more than one hundred human tissues and cell types. PMID:25915600

  16. PULMONARY ARTERIAL HYPERTENSION IN CONNECTIVE TISSUE DISEASES

    Directory of Open Access Journals (Sweden)

    A. V. Volkov

    2015-01-01

    Full Text Available The lecture considers the problem of one of the rare manifestations of systemic diseases (pulmonary arterial hypertension and shows the need for early diagnosis, careful differential diagnosis, and verification of diagnosis, by applying invasive procedures to evaluate central hemodynamics. It gives a model for screening patients with systemic sclerosis, which simplifies the determination of indications for the use of diagnostic verification methods. Current approaches to drug therapy are described and the issues of better survival of patients with poor prognosis of this disorder are discussed. 

  17. Intraluminal mapping of tissue viscoelastic properties using laser speckle rheology catheter (Conference Presentation)

    Science.gov (United States)

    Wang, Jing; Hosoda, Masaki; Tshikudi, Diane M.; Nadkarni, Seemantini K.

    2016-03-01

    A number of disease conditions including coronary atherosclerosis, peripheral artery disease and gastro-intestinal malignancies are associated with alterations in tissue mechanical properties. Laser speckle rheology (LSR) has been demonstrated to provide important information on tissue mechanical properties by analyzing the time scale of temporal speckle intensity fluctuations, which serves as an index of tissue viscoelasticity. In order to measure the mechanical properties of luminal organs in vivo, LSR must be conducted via a miniature endoscope or catheter. Here we demonstrate the capability of an omni-directional LSR catheter to quantify tissue mechanical properties over the entire luminal circumference without the need for rotational motion. Retracting the catheter using a motor-drive assembly enables the reconstruction of cylindrical maps of tissue mechanical properties. The performance of the LSR catheter is tested using a luminal phantom with mechanical moduli that vary in both circumferential and longitudinal directions. 2D cylindrical maps of phantom viscoelastic properties are reconstructed over four quadrants of the coronary circumference simultaneously during catheter pullback. The reconstructed cylindrical maps of the decorrelation time constants easily distinguish the different gel components of the phantom with different viscoelastic moduli. The average values of decorrelation times calculated for each gel component of the phantom show a strong correspondence with the viscoelastic moduli measured via standard mechanical rheometry. These results highlight the capability for cylindrical mapping of tissue viscoelastic properties using LSR in luminal organs using a miniature catheter, thus opening the opportunity for improved diagnosis of several disease conditions.

  18. Pediatric Crohn's disease presenting with a large calcified pelvic mass

    Directory of Open Access Journals (Sweden)

    Dominic C. Grimberg, BS

    2017-07-01

    Full Text Available Small bowel Crohn's disease classically presents with symptoms of abdominal pain, diarrhea, and weight loss in the pediatric population. However, there is no published literature on its presentation associated with a dystrophically calcified pelvic mass. We present a case of a 15-year-old female presenting with four weeks of inflammatory bowel disease (IBD symptoms as well as a large calcified pelvic mass suggestive of chronic, organized inflammatory process versus a calcifying fibrous tumor.

  19. Krabbe disease – An unusual presentation of optic nerve enlargement

    African Journals Online (AJOL)

    The pathologic basis of the disease is abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction. Although optic atrophy is a classic presentation of Krabbe disease, we report on two patients who are biological brothers presenting with optic nerve ...

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

    African Journals Online (AJOL)

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

  1. Infrared thermal imaging in connective tissue diseases.

    Science.gov (United States)

    Chojnowski, Marek

    2017-01-01

    Infrared thermal imaging (IRT) is a non-invasive, non-contact technique which allows one to measure and visualize infrared radiation. In medicine, thermal imaging has been used for more than 50 years in various clinical settings, including Raynaud's phenomenon and systemic sclerosis. Imaging and quantification of surface body temperature provides an indirect measure of the microcirculation's overall performance. As such, IRT is capable of confirming the diagnosis of Raynaud's phenomenon, and, with additional cold or heat challenge, of differentiating between the primary and secondary condition. In systemic sclerosis IRT has a potential role in assessing disease activity and monitoring treatment response. Despite certain limitations, thermal imaging can find a place in clinical practice, and with the introduction of small, low-cost infrared cameras, possibly become a part of routine rheumatological evaluation.

  2. Clinical Presentation of Soft‑tissue Infections and its Management: A ...

    African Journals Online (AJOL)

    Background: Soft‑tissue infections vary widely in their nature and severity. A clear approach to the management must allow their rapid identification and treatment as they can be life‑threatening. Objective: Clinical presentation of soft‑tissue infections and its management. Materials and Methods: A prospective study based ...

  3. CARS microscopy of Alzheimer's diseased brain tissue

    Science.gov (United States)

    Enejder, Annika; Kiskis, Juris; Fink, Helen; Nyberg, Lena; Thyr, Jakob; Li, Jia-Yi

    2014-02-01

    Alzheimer's disease (AD) is a progressive neurodegenerative disorder currently without cure, characterized by the presence of extracellular plaques surrounded by dystrophic neurites. In an effort to understand the underlying mechanisms, biochemical analysis (protein immunoblot) of plaque extracts reveals that they consist of amyloid-beta (Aβ) peptides assembled as oligomers, protofibrils and aggregates. Their spatial distribution has been confirmed by Thioflavin-S or immuno-staining with fluorescence microscopy. However, it is increasingly understood that the protein aggregation is only one of several mechanism that causes neuronal dysfunction and death. This raises the need for a more complete biochemical analysis. In this study, we have complemented 2-photon fluorescence microscopy of Thioflavin-S and Aβ immuno-stained human AD plaques with CARS microscopy. We show that the chemical build-up of AD plaques is more complex and that Aβ staining does not provide the complete picture of the spatial distribution or the molecular composition of AD plaques. CARS images provide important complementary information to that obtained by fluorescence microscopy, motivating a broader introduction of CARS microscopy in the AD research field.

  4. Molecular imaging of brown adipose tissue in health and disease

    International Nuclear Information System (INIS)

    Bauwens, Matthias; Wierts, Roel; Brans, Boudewijn; Royen, Bart van; Backes, Walter; Bucerius, Jan; Mottaghy, Felix

    2014-01-01

    Brown adipose tissue (BAT) has transformed from an interfering tissue in oncological 18 F-fluorodeoxyglucose (FDG) positron emission tomography (PET) to an independent imaging research field. This review takes the perspective from the imaging methodology on which human BAT research has come to rely on heavily. This review analyses relevant PubMed-indexed publications that discuss molecular imaging methods of BAT. In addition, reported links between BAT and human diseases such as obesity are discussed, and the possibilities for imaging in these fields are highlighted. Radiopharmaceuticals aiming at several different biological mechanisms of BAT are discussed and evaluated. Prospective, dedicated studies allow visualization of BAT function in a high percentage of human subjects. BAT dysfunction has been implicated in obesity, linked with diabetes and associated with cachexia and atherosclerosis. Presently, 18 F-FDG PET/CT is the most useful tool for evaluating therapies aiming at BAT activity. In addition to 18 F-FDG, other radiopharmaceuticals such as 99m Tc-sestamibi, 123 I-metaiodobenzylguanidine (MIBG), 18 F-fluorodopa and 18 F-14(R,S)-[ 18 F]fluoro-6-thia-heptadecanoic acid (FTHA) may have a potential for visualizing other aspects of BAT activity. MRI methods are under continuous development and provide the prospect of functional imaging without ionizing radiation. Molecular imaging of BAT can be used to quantitatively assess different aspects of BAT metabolic activity. (orig.)

  5. Molecular imaging of brown adipose tissue in health and disease

    Energy Technology Data Exchange (ETDEWEB)

    Bauwens, Matthias [MUMC, Department of Medical Imaging, Division of Nuclear Medicine, Maastricht (Netherlands); Maastricht University, Research School NUTRIM, Maastricht (Netherlands); Wierts, Roel; Brans, Boudewijn [MUMC, Department of Medical Imaging, Division of Nuclear Medicine, Maastricht (Netherlands); Royen, Bart van; Backes, Walter [MUMC, Department of Medical Imaging, Division of Radiology, Maastricht (Netherlands); Bucerius, Jan [MUMC, Department of Medical Imaging, Division of Nuclear Medicine, Maastricht (Netherlands); Uniklinikum Aachen, Division of Nuclear Medicine, Aachen (Germany); Maastricht University, Research School CARIM, Maastricht (Netherlands); Mottaghy, Felix [MUMC, Department of Medical Imaging, Division of Nuclear Medicine, Maastricht (Netherlands); Uniklinikum Aachen, Division of Nuclear Medicine, Aachen (Germany)

    2014-04-15

    Brown adipose tissue (BAT) has transformed from an interfering tissue in oncological {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography (PET) to an independent imaging research field. This review takes the perspective from the imaging methodology on which human BAT research has come to rely on heavily. This review analyses relevant PubMed-indexed publications that discuss molecular imaging methods of BAT. In addition, reported links between BAT and human diseases such as obesity are discussed, and the possibilities for imaging in these fields are highlighted. Radiopharmaceuticals aiming at several different biological mechanisms of BAT are discussed and evaluated. Prospective, dedicated studies allow visualization of BAT function in a high percentage of human subjects. BAT dysfunction has been implicated in obesity, linked with diabetes and associated with cachexia and atherosclerosis. Presently, {sup 18}F-FDG PET/CT is the most useful tool for evaluating therapies aiming at BAT activity. In addition to {sup 18}F-FDG, other radiopharmaceuticals such as {sup 99m}Tc-sestamibi, {sup 123}I-metaiodobenzylguanidine (MIBG), {sup 18}F-fluorodopa and {sup 18}F-14(R,S)-[{sup 18}F]fluoro-6-thia-heptadecanoic acid (FTHA) may have a potential for visualizing other aspects of BAT activity. MRI methods are under continuous development and provide the prospect of functional imaging without ionizing radiation. Molecular imaging of BAT can be used to quantitatively assess different aspects of BAT metabolic activity. (orig.)

  6. Psychomotor delay, a possible rare presentation of moyamoya disease

    International Nuclear Information System (INIS)

    Ashrafi, M. R.; Alizadeh, H.; Yazdani, Sh.; Mohseni, M.; Mohamadi, M.

    2011-01-01

    Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers to the angiographic appearance of the cerebral vasculature. We present such a disease in an 18-month-old Iranian girl with global developmental delay, which is a very rare presentation of moyamoya disease. She was diagnosed by magnetic resonance imaging and magnetic resonance angiography.

  7. Tissue Triage and Freezing for Models of Skeletal Muscle Disease

    Science.gov (United States)

    Meng, Hui; Janssen, Paul M.L.; Grange, Robert W.; Yang, Lin; Beggs, Alan H.; Swanson, Lindsay C.; Cossette, Stacy A.; Frase, Alison; Childers, Martin K.; Granzier, Henk; Gussoni, Emanuela; Lawlor, Michael W.

    2014-01-01

    Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations. Due to the subtlety of some pathological abnormalities seen in congenital muscle disorders and the potential for fixation to interfere with the recognition of these features, pathological evaluation of frozen muscle is preferable to fixed muscle when evaluating skeletal muscle for congenital muscle disease. Additionally, the potential to produce severe freezing artifacts in muscle requires specific precautions when freezing skeletal muscle for histological examination that are not commonly used when freezing other tissues. This manuscript describes a protocol for rapid freezing of skeletal muscle using isopentane (2-methylbutane) cooled with liquid nitrogen to preserve optimal skeletal muscle morphology. This procedure is also effective for freezing tissue intended for genetic or protein expression studies. Furthermore, we have integrated our freezing protocol into a broader procedure that also describes preferred methods for the short term triage of tissue for (1) single fiber functional studies and (2) myoblast cell culture, with a focus on the minimum effort necessary to collect tissue and transport it to specialized research or reference labs to complete these studies. Overall, this manuscript provides an outline of how fresh tissue can be effectively distributed for a variety of phenotypic studies and thereby provides standard operating procedures (SOPs) for pathological studies related to congenital muscle disease. PMID:25078247

  8. Clinical zinc deficiency as early presentation of Wilson disease.

    Science.gov (United States)

    Van Biervliet, Stephanie; Küry, Sébastien; De Bruyne, Ruth; Vanakker, Olivier M; Schmitt, Sébastien; Vande Velde, Saskia; Blouin, Eric; Bézieau, Stéphane

    2015-04-01

    Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.

  9. Renal calculus at presentation in a child with Crohn's disease

    International Nuclear Information System (INIS)

    Joy, H.M.; Fairhurst, J.J.; Beattie, R.M.

    2003-01-01

    Genitourinary complications are relatively common in inflammatory bowel disease, with a reported incidence of 4-23%, although they more frequently occur in established disease. We present the case of a 12-year-old, already under investigation for short stature, who only developed florid symptoms of colitis after removal of a large staghorn calculus. In all cases of childhood nephrolithiasis, the possibility of underlying inflammatory bowel disease needs to be considered. (orig.)

  10. Mixed connective tissue disease: The King Faisal Specialist Hospital experience

    International Nuclear Information System (INIS)

    Al-Rayes, H.; Al-Sheikh, A.; Al-Dalaan, A.; Al-Saleh, S.

    2002-01-01

    The aim of this study was to assess the clinical presentation, complications and serological analysis of mixed connective tissue disease (MCTD) at King Faisal Specialist Hospital and Research Centre (KFSHRC), and to determine the long-term clinical and immunologic outcomes. This was a retrospective study with prospective follow-up of 18 patients with MCTD who were followed at KFSHRC between 1982 and 1999. The age at onset of the disease ranged from 6 to 44 years, with mean age of 17.9 years. The female to male ratio was 2.5:1 and the mean follow-up time was 5 years. The most frequent presenting symptoms were arthralgia in all patients, Raynaud's phenomenon in 16 patients (88%) and swollen hands in 11 patients (61%). Arthritis was seen in 12 patients in (67%) and definite myositis in 10 patients (58%). The most common skin rashes encountered included lupus-like rash in 8 patients (44%) and cutaneous vasculitis in 5 patients (28%). Pulmonary hypertension occurred in 4 patients (22%). Other clinical manifestations encountered were esophageal hypomotility in 10 patients (56%), myocarditis in 2 patients (11%) and proteinurea in 2 patients (11%), while various neurological manifestations were present in 7 patients (39%). All patients exhibited higher titer of ANA and anti-nRNP antibodies. Five of the 18 patients (28%) had marked reduction in the anti-nRNP during remission. Following treatment, features of inflammation as well as Raynaud's phenomenon and esophageal hypomotility diminished, while pulmonary hypertension persisted. A favorable outcome was observed in 12 patients (67%), 3 patients (17%) had continued active disease, while 3 patients (17%) died, with death related to pulmonary hypertension occurring in 2 patients (11%). The studied patients demonstrated the typical clinical and serological findings of MCTD, which support the correlation between anti-nRNP antibody specificities and MCTD. Autoantibody reactivity against nRNP polypeptides tends to regress during

  11. Instructional PowerPoint presentations for cutaneous wound healing and tissue response to sutures.

    Science.gov (United States)

    Stroncek, John D; Bell, Nicole; Reichert, W Monty

    2009-09-15

    Wound healing is an intricate process involving the interaction of cells and molecules, resulting in a complex series of events that change the morphology and characteristics of the wounded area. Interactive animations are useful for illustrating challenging concepts, helping students learn and retain new material. Instructional PowerPoint presentations describing the basic elements of cutaneous wound healing and the response of cutaneous tissue to sutures were developed by seven biomedical engineering students at Duke University. "Cutaneous Wound Healing.ppt" is an interactive presentation reviewing the four phases of wound healing (hemostasis, inflammation, repair, and remodeling) as well as the major molecular and cellular mechanisms that comprise these processes for cutaneous tissue. "Tissue Response to Sutures.ppt" is an interactive presentation that uses sutures to illustrate the foreign body response to biomaterials in cutaneous tissue. The tissue response program reviews the basics of suturing, common suture materials, and the tissue, cellular, and molecular responses to absorbable and nonabsorbable sutures. This manuscript provides a brief overview of the programs that are freely available on the Duke Center for Biomolecular and Tissue Engineering web site at http://bte.egr.duke.edu. Copyright 2008 Wiley Periodicals, Inc.

  12. Cat scratch disease presenting as orbital abscess and osteomyelitis.

    Science.gov (United States)

    Mirakhur, Beloo; Shah, Samir S; Ratner, Adam J; Goldstein, Scott M; Bell, Louis M; Kim, Jean O

    2003-08-01

    Ocular manifestations of cat scratch disease are uncommon. The diagnosis is usually made on the basis of increasing Bartonella henselae serum antibody titers. We report a child presenting with orbital abscess and osteomyelitis who was diagnosed with hepatosplenic cat scratch disease by detection of B. henselae DNA in the orbital abscess fluid.

  13. Preoperative vs. postoperative radiotherapy in the treatment of soft tissue sarcomas: a matter of presentation

    International Nuclear Information System (INIS)

    Pollack, Alan; Zagars, Gunar K.; Goswitz, Mary S.; Pollock, Raphael A.; Feig, Barry W.; Pisters, Peter W.T.

    1998-01-01

    Purpose: Radiotherapy for soft tissue sarcoma is typically preoperative or postoperative, with advocates of each. In this study, the relationship of the sequencing of radiotherapy and surgery to local control was examined. Methods and Materials: The cohort consisted of 453 patients with Grade 2-3 malignant fibrous histiocytoma, synovial sarcoma, or liposarcoma treated from 1965-1992. Retroperitoneal sarcomas were excluded. Median follow-up was 97 months. There were 3 groups of patients that were classified by the treatment administered at our institution: preoperative radiotherapy to a median dose of 50 Gy given before excision at MDACC (Preop; n = 128); postoperative radiotherapy to a median dose of 64 Gy given after excision at MDACC (Postop; n = 165); and radiotherapy to a median dose of 65 Gy without excision at MDACC (RT Alone; n = 160). Those in the RT Alone Group had gross total excision at an outside center prior to referral. Results: Histological classification, whether locally recurrent at referral, and final MDACC margins were independent determinants of local control in Cox proportional hazards multivariate analysis using the entire cohort. The type of treatment was not significant; however, tumor status at presentation (gross disease vs. excised) affected these findings greatly. Gross disease treated with Preop was controlled locally in 88% at 10 years, as compared to 67% with Postop (p = 0.01). This association was independently significant for patients treated primarily (not for recurrence). In contrast, for those presenting after excision elsewhere, 10-year local control was better with Postop (88% vs. 73%, p = 0.07), particularly for patients treated primarily (91% vs. 72%, p 0.02 in univariate analysis; p = 0.06 in multivariate analysis). Re-excision at MDACC (Postop) resulted in enhanced 10-year local control over that with RT Alone (88% vs. 75%, p = 0.06), and was confirmed to be an independent predictor in multivariate analysis (p = 0

  14. Long-term effects of Ag-containing alloys on mucous tissue present in biopsy samples.

    Science.gov (United States)

    Aoyagi, Hidekazu; Katagiri, Masataka

    2004-09-01

    The aim of this study was to investigate the long-term effects of alloys containing silver (mainly Ag-Sn alloy) on oral mucous tissue. We observed biopsy tissue specimens from patients diagnosed as having amalgam tattoo and/or metal pigmentation by light and electron microscopy and electron-probe microanalysis (EPMA). In most cases, Ag-Sn alloy was present in the tissue but it could not be confirmed if the alloy originated from amalgam. Distributions of both Ag-S and Ag-Sn have typical patterns. Most Ag forms Ag2S and is stably deposited in three patterns along the collagen, basement membrane, and fibrous cells without inducing any host reaction. On the other hand, Sn forms large granules that contain Ag, S, C, N, P, and Ca, and is in soft state in the tissue. Tissue reactions to the alloy become weaker as time passes.

  15. Crohn's disease presenting as gastric outlet obstruction: a therapeutic challenge?

    Science.gov (United States)

    Inayat, Faisal; Ullah, Waqas; Hussain, Qulsoom; Shafique, Khurram

    2017-04-28

    Isolated gastric Crohn's disease with initial presentation related to gastric outlet obstruction is an unusual clinicopathological entity. We undertake here a literature review of this rare initial presentation of isolated gastric Crohn's disease and discuss the formidable diagnostic and therapeutic challenges encountered in such patients. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. Lipoma arborescens: Comparison of typical and atypical disease presentations

    International Nuclear Information System (INIS)

    Howe, B.M.; Wenger, D.E.

    2013-01-01

    Aim: To determine whether the aetiology differed between typical cases of lipoma arborescens with unilateral knee involvement and atypical cases involving joints other than the knee, polyarticular disease, and disease outside of the knee joint. Materials and methods: Cases of lipoma arborescens involving the knee joint were evaluated for the distribution of the disease and severity of degenerative arthritis. Joints other than the knee were evaluated for the presence and severity of degenerative arthritis, and the distribution was classified as either intra-articular, extra-articular, or both. Clinical history was reviewed for patient age at presentation, a history of inflammatory arthritis, diabetes mellitus, and known steroid use. Fisher's exact test was used to determine whether there was a statistically significant difference between typical and atypical presentations of the disease. Results: Lipoma arborescens was identified in 45 joints in 39 patients. Twenty-eight patients were classified as “typical” and 11 patients had “atypical” disease. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. Conclusion: Twenty-eight percent of patients in the present study had atypical presentation of lipoma arborescens with multifocal lipoma arborescens or disease in joints other than the knee. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. Of the 39 patients, only three had no evidence of degenerative arthritis, which suggests that many cases of lipoma arborescens are secondary to chronic reactive change in association with degenerative arthritis

  17. High-spatial-resolution mapping of the oxygen concentration in cortical tissue (Conference Presentation)

    Science.gov (United States)

    Jaswal, Rajeshwer S.; Yaseen, Mohammad A.; Fu, Buyin; Boas, David A.; Sakadžic, Sava

    2016-03-01

    Due to a lack of imaging tools for high-resolution imaging of cortical tissue oxygenation, the detailed maps of the oxygen partial pressure (PO2) around arterioles, venules, and capillaries remain largely unknown. Therefore, we have limited knowledge about the mechanisms that secure sufficient oxygen delivery in microvascular domains during brain activation, and provide some metabolic reserve capacity in diseases that affect either microvascular networks or the regulation of cerebral blood flow (CBF). To address this challenge, we applied a Two-Photon PO2 Microscopy to map PO2 at different depths in mice cortices. Measurements were performed through the cranial window in the anesthetized healthy mice as well as in the mouse models of microvascular dysfunctions. In addition, microvascular morphology was recorded by the two-photon microscopy at the end of each experiment and subsequently segmented. Co-registration of the PO2 measurements and exact microvascular morphology enabled quantification of the tissue PO2 dependence on distance from the arterioles, capillaries, and venules at various depths. Our measurements reveal significant spatial heterogeneity of the cortical tissue PO2 distribution that is dominated by the high oxygenation in periarteriolar spaces. In cases of impaired oxygen delivery due to microvascular dysfunction, significant reduction in tissue oxygenation away from the arterioles was observed. These tissue domains may be the initial sites of cortical injury that can further exacerbate the progression of the disease.

  18. Septic arthritis as a presentation of Crohn's disease.

    Science.gov (United States)

    Zaidi, R; Dala-Ali, B; Dalton, D J N

    2011-09-01

    A 42-year-old man with colonic Crohn's disease presented to the orthopaedic department with septic arthritis of the knee with frank intra-articular pus, which persisted despite repeated joint washouts. This coincided with a symptomatic flare of his colonic Crohns. Imaging revealed a fistulous connection from the proximal sigmoid colon into the pelvis, a psoas abscess, myositis of the musculature around the left pelvic girdle and left thigh and two focal collections almost surrounding the distal femur. The knee symptoms only settled after laparotomy and resection of the diseased sigmoid colon and fistula. This case report demonstrates an unusual presentation of fistulating Crohns disease as septic arthritis.

  19. Biological tissue magnetism in the frame of iron overload diseases

    Energy Technology Data Exchange (ETDEWEB)

    Lazaro, Francisco J. [Departamento de Ciencia y Tecnologia de Materiales y Fluidos, Universidad de Zaragoza, Zaragoza 50018 (Spain) and Instituto de Nanociencia de Aragon, Universidad de Zaragoza, Zaragoza 50009 (Spain)]. E-mail: osoro@unizar.es; Gutierrez, Lucia [Departamento de Ciencia y Tecnologia de Materiales y Fluidos, Universidad de Zaragoza, Zaragoza 50018 (Spain); Abadia, Ana R. [Departamento de Farmacologia y Fisiologia, Universidad de Zaragoza, Zaragoza 50013 (Spain); Romero, Maria S. [Departamento de Medicina y Psiquiatria, Universidad de Zaragoza, Zaragoza 50009 (Spain); Lopez, A. [CNAM-Salesianos Zaragoza, Zaragoza 50009 (Spain)

    2007-09-15

    The conspicuous magnetic properties of iron, paradoxically, rarely participate in the methods routinely employed in the clinical environment to detect iron containing species in tissues. In the organism iron is just a trace metal and it mostly occurs as part of haemoproteins or ferritin, which show paramagnetic, diamagnetic or antiferromagnetic behaviour, hence resulting in a very low contribution to the tissue susceptibility. Detailed magnetic measurements make it nowadays possible to identify such species in tissues that correspond to individuals with iron overload pathologies. Since, as alternatives to the conventional biopsy, magnetism-based noninvasive techniques to diagnose and manage such diseases are recently under development, the deep knowledge of the magnetic properties of the different forms of iron in tissues is of high applied interest.

  20. Biological tissue magnetism in the frame of iron overload diseases

    Science.gov (United States)

    Lázaro, Francisco J.; Gutiérrez, Lucía; Abadía, Ana R.; Romero, María S.; López, A.

    2007-09-01

    The conspicuous magnetic properties of iron, paradoxically, rarely participate in the methods routinely employed in the clinical environment to detect iron containing species in tissues. In the organism iron is just a trace metal and it mostly occurs as part of haemoproteins or ferritin, which show paramagnetic, diamagnetic or antiferromagnetic behaviour, hence resulting in a very low contribution to the tissue susceptibility. Detailed magnetic measurements make it nowadays possible to identify such species in tissues that correspond to individuals with iron overload pathologies. Since, as alternatives to the conventional biopsy, magnetism-based noninvasive techniques to diagnose and manage such diseases are recently under development, the deep knowledge of the magnetic properties of the different forms of iron in tissues is of high applied interest.

  1. Disease related tissue damage and subsequent changes in fillet structure

    DEFF Research Database (Denmark)

    of the fish and subsequent a reduction in price. Despite this, the impact of infectious diseases on the meat quality and the mechanisms behind are poorly investigated. Wound repair is a dynamic, interactive response to tissue injury that involves a complex interaction and cross talk of various cell types......, extracellular matrix molecules, soluble mediators and cytokines. In order to describe the molecular mechanisms and processes of wound repair, a panel of genes covering immunological factors and tissue regeneration were used to measure changes at the mRNA level following mechanical tissue damage in rainbow trout...... (Oncorhynchus mykiss). Needle disrupted muscle tissue was sampled at different time points and subject to real-time RT-PCR for measuring the expression of the genes IL-1β, IL-8, IL-10, TGF-β, Myostatin-1ab, MMP-2, CTGF, Collagen-1α, VEGF, iNOS, Arg-2 and FGF. The results showed an initial phase with up...

  2. Gender-based variability in disease presentation in pemphigus vulgaris.

    Science.gov (United States)

    Naseer, Sahar Y; Gill, Liza; Shah, Jay; Sinha, Animesh A

    2014-10-01

    Pemphigus vulgaris is a chronic autoimmune blistering disorder of the skin. As with many autoimmune diseases, a female predominance in pemphigus vulgaris is well established. The genetic and physiological basis for this gender bias is not well understood. Moreover, it is unclear whether the affect of gender extends beyond disease susceptibility to influence disease presentation. To address this issue, we performed a comprehensive analysis of 72 male and 125 female pemphigus vulgaris patients across a set of defined demographic (HLA type, ethnicity) and clinical (age at disease onset, anti-desmoglein antibody levels, site of lesions, and history of autoimmune disease) factors. We find that male patients are more likely to present with disease onset before age 40 than females. Additionally, we find that males have increased cutaneous involvement and display greater co-expression of anti-Dsg1 and anti-Dsg3 antibodies, while females tend to have mucosal predominance and stronger personal and family histories of autoimmunity. We do not find any differences in the distribution of HLA type or ethnicity between male and female pemphigus vulgaris patients. Our findings establish that gender does influence disease presentation in pemphigus vulgaris, supporting a role for genetic and hormonal factors in immune dysregulation and perpetuation of the autoimmune phenotype.

  3. Clinical presentation of adult celiac disease in Western Saudi Arabia.

    Science.gov (United States)

    Qari, Faiza A

    2002-12-01

    To study the clinical presentation of adult celiac disease. A retrospective study of adult patients who were diagnosed with celiac disease based on findings of small intestinal biopsy, response to gluten free diet and exclusion of other causes of malabsorption or vitamin deficiency over a period of 5 years from 1998-2002. The study was carried out at the King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia. Sixteen patients were diagnosed with celiac disease. Osteomalacia and iron deficiency anemia were common clinical presentations. Diarrhea, malabsorption associated with growth failure was observed in 3 patients with a mean age of 14.5 years. Celiac disease associated with other autoimmune diseases was reported in 6 patients. Insulin-dependent diabetes mellitus in 3 patients, Hashimoto's hypothyroidism in 2 patients and dermatitis herpetiformis in one patient. No malignancy was observed during the follow-up of our patients. There was a good clinical and biochemical response to gluten free diet in 12 cases. Osteomalacia and iron deficiency anemia were common clinical presentations of celiac disease. Hence, the presence of either one of them in a female patient should raise the possibility of celiac disease.

  4. Celiac disease presenting as rickets in Saudi children.

    Science.gov (United States)

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

    2013-01-01

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

  5. A Histopathological Study of Pulmonary Hypertension in Connective Tissue Disease

    Directory of Open Access Journals (Sweden)

    Nobuhito Sasaki

    2011-01-01

    Full Text Available Connective tissue diseases (CTD, such as systemic sclerosis (SSc, systemic lupus erythematosus (SLE, and mixed connective tissue disease (MCTD, develop pulmonary hypertension (PH. Generally all PH cases associated with any CTD are classified into the same PH group. However, histological examination shows both common and specific lesions for each disease. In patients with SLE, fibrosis is generally rare and mild. The findings of PH in SLE are similar to those in primary pulmonary hypertension. Many cases of SSc are accompanied by fibrosis. MCTD is rather close to SSc. Arterial and arteriolar lesions of MCTD are characterized by fibrous intimal thickening. In this review, we describe the pathological features of PH associated with each CTD.

  6. Asymmetric chorea as presenting symptom in Graves' disease.

    Science.gov (United States)

    Park, Jinsung; Kim, Jung-Guk; Park, Sung-Pa; Lee, Ho-Won

    2012-04-01

    Chorea is an involuntary movement disorder characterized by irregular, brief movements that flow from one body part to another in a non-stereotyped fashion. In rare instances, chorea is associated with autoimmune thyroid disease. Most of them have been related with Hashimoto's encephalopathy and few cases have been related with Graves' disease. Most reported cases have been in women with Graves' disease. We describe a 16-year-old male patient with asymmetric chorea as presenting symptom in Graves' disease. He had no family history of neurological disease. Brain imaging, laboratory findings and electroencephalogram demonstrated no abnormality except for thyroid dysfunction which was proved by thyroid function test, sonography and radioiodine uptake scan. Asymmetric chorea improved over months after anti-thyroid medications. This asymmetry could be explained by difference in increased hypersensitivity or by the difference in the number of dopamine receptors, and an asymmetrical breakdown of blood-brain barrier due to their genetic differences.

  7. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  8. Image-guided urologic surgery: intraoperative optical imaging and tissue interrogation (Conference Presentation)

    Science.gov (United States)

    Liao, Joseph C.

    2017-02-01

    Emerging optical imaging technologies can be integrated in the operating room environment during minimally invasive and open urologic surgery, including oncologic surgery of the bladder, prostate, and kidney. These technologies include macroscopic fluorescence imaging that provides contrast enhancement between normal and diseased tissue and microscopic imaging that provides tissue characterization. Optical imaging technologies that have reached the clinical arena in urologic surgery are reviewed, including photodynamic diagnosis, near infrared fluorescence imaging, optical coherence tomography, and confocal laser endomicroscopy. Molecular imaging represents an exciting future arena in conjugating cancer-specific contrast agents to fluorophores to improve the specificity of disease detection. Ongoing efforts are underway to translate optimal targeting agents and imaging modalities, with the goal to improve cancer-specific and functional outcomes.

  9. Cystic lung disease in tuberculosis: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Animesh Ray

    2013-01-01

    Full Text Available Cysts in the lung can arise due to large number of causes out of which tuberculosis is very rare, We report a case of tuberculosis in a young female presenting as a febrile illness and respiratory failure with radiological features of cystic lung disease. With treatment,fever and respiratory distress subsided and cysts in the lungs showed partial regression. We highlight the need to consider tuberculosis in the differential diagnoses of cystic lung disease under appropriate circumstances.

  10. Concomitant Graves' disease and Hashimoto's thyroiditis, presenting as primary hypothyroidism.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

    Hypothyroidism in patients with Graves\\' disease is usually the result of ablative treatment. We describe a 58 year old man with Graves\\' ophthalmopathy and pre-tibial myxoedema, who presented with spontaneous primary hypothyroidism. Circulating TSH receptor antibody activity was increased, while thyroid microsomal antibody was detectable in titres greater than one in one hundred thousand. It is likely that the TSH receptor antibody of Graves\\' disease was ineffective in stimulating hyperthyroidism because of concomitant thyroid destruction due to Hashimoto\\'s disease. Alternatively, primary hypothyroidism could have resulted from the effects of a circulating TSH receptor blocking antibody.

  11. Microbial Population Differentials between Mucosal and Submucosal Intestinal Tissues in Advanced Crohn's Disease of the Ileum.

    Directory of Open Access Journals (Sweden)

    Rodrick J Chiodini

    Full Text Available Since Crohn's disease is a transmural disease, we hypothesized that examination of deep submucosal tissues directly involved in the inflammatory disease process may provide unique insights into bacterial populations transgressing intestinal barriers and bacterial populations more representative of the causes and agents of the disease. We performed deep 16s microbiota sequencing on isolated ilea mucosal and submucosal tissues on 20 patients with Crohn's disease and 15 non-inflammatory bowel disease controls with a depth of coverage averaging 81,500 sequences in each of the 70 DNA samples yielding an overall resolution down to 0.0001% of the bacterial population. Of the 4,802,328 total sequences generated, 98.9% or 4,749,183 sequences aligned with the Kingdom Bacteria that clustered into 8545 unique sequences with <3% divergence or operational taxonomic units enabling the identification of 401 genera and 698 tentative bacterial species. There were significant differences in all taxonomic levels between the submucosal microbiota in Crohn's disease compared to controls, including organisms of the Order Desulfovibrionales that were present within the submucosal tissues of most Crohn's disease patients but absent in the control group. A variety of organisms of the Phylum Firmicutes were increased in the subjacent submucosa as compared to the parallel mucosal tissue including Ruminococcus spp., Oscillospira spp., Pseudobutyrivibrio spp., and Tumebacillus spp. In addition, Propionibacterium spp. and Cloacibacterium spp. were increased as well as large increases in Proteobacteria including Parasutterella spp. and Methylobacterium spp. This is the first study to examine the microbial populations within submucosal tissues of patients with Crohn's disease and to compare microbial communities found deep within the submucosal tissues with those present on mucosal surfaces. Our data demonstrate the existence of a distinct submucosal microbiome and ecosystem

  12. Fahr′s disease Presenting with Aneurysmal Subarachnoid Hemorrhage

    Directory of Open Access Journals (Sweden)

    Hosam Al-Jehani

    2012-01-01

    Full Text Available Fahr′s disease is a rare disorder of slowly progressive cognitive, psychiatric, and motor decline associated with idiopathic basal ganglia calcification (IBGC and widespread calcification in the brain and cerebellum. Acute presentation of IBGC is most often as a seizure disorder; however, we present a case of an acute IBCG presentation in which the cause of the deterioration was an aneurysmal subarachnoid hemorrhage.

  13. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

    Directory of Open Access Journals (Sweden)

    K. Selthofer-Relatic

    2018-01-01

    Full Text Available Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a that it is a multiorgan disease with wide variety of phenotypes, (b different timelines of presentation, (c gender differences, and (d possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1 72-year-old female (echocardiography detection, heterozygote, significant left and mild right ventricular hypertrophy; (2 62-year-old male (echocardiography detection, hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3 45-year-old female (asymptomatic/family screening, heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4 75-year-old female (symptomatic/family screening, heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve. Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

  14. A Rare Clinical Presentation of Intraoral Darier's Disease

    Directory of Open Access Journals (Sweden)

    K. G. D. Manoja

    2011-01-01

    Full Text Available Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules primarily affecting seborrheic areas on the head, neck, thorax, and less frequently the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions present as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains.” This paper reports a case of an adult male patient who presented with painful whitish lesions on buccal mucosa with crusty lips as the only clinical sign of Darier's disease. As this patient did not have skin lesions or family history, an intraoral biopsy confirmed the diagnosis of Darier's disease by a multidisciplinary team.

  15. Biodynamic Doppler imaging of subcellular motion inside 3D living tissue culture and biopsies (Conference Presentation)

    Science.gov (United States)

    Nolte, David D.

    2016-03-01

    Biodynamic imaging is an emerging 3D optical imaging technology that probes up to 1 mm deep inside three-dimensional living tissue using short-coherence dynamic light scattering to measure the intracellular motions of cells inside their natural microenvironments. Biodynamic imaging is label-free and non-invasive. The information content of biodynamic imaging is captured through tissue dynamics spectroscopy that displays the changes in the Doppler signatures from intracellular constituents in response to applied compounds. The affected dynamic intracellular mechanisms include organelle transport, membrane undulations, cytoskeletal restructuring, strain at cellular adhesions, cytokinesis, mitosis, exo- and endo-cytosis among others. The development of 3D high-content assays such as biodynamic profiling can become a critical new tool for assessing efficacy of drugs and the suitability of specific types of tissue growth for drug discovery and development. The use of biodynamic profiling to predict clinical outcome of living biopsies to cancer therapeutics can be developed into a phenotypic companion diagnostic, as well as a new tool for therapy selection in personalized medicine. This invited talk will present an overview of the optical, physical and physiological processes involved in biodynamic imaging. Several different biodynamic imaging modalities include motility contrast imaging (MCI), tissue-dynamics spectroscopy (TDS) and tissue-dynamics imaging (TDI). A wide range of potential applications will be described that include process monitoring for 3D tissue culture, drug discovery and development, cancer therapy selection, embryo assessment for in-vitro fertilization and artificial reproductive technologies, among others.

  16. Vaccination against Lyme disease: past, present, and future.

    Science.gov (United States)

    Embers, Monica E; Narasimhan, Sukanya

    2013-01-01

    Lyme borreliosis is a zoonotic disease caused by Borrelia burgdorferi sensu lato bacteria transmitted to humans and domestic animals by the bite of an Ixodes spp. tick (deer tick). Despite improvements in diagnostic tests and public awareness of Lyme disease, the reported cases have increased over the past decade to approximately 30,000 per year. Limitations and failed public acceptance of a human vaccine, comprised of the outer surface A (OspA) lipoprotein of B. burgdorferi, led to its demise, yet current research has opened doors to new strategies for protection against Lyme disease. In this review we discuss the enzootic cycle of B. burgdorferi, and the unique opportunities it poses to block infection or transmission at different levels. We present the correlates of protection for this infectious disease, the pros and cons of past vaccination strategies, and new paradigms for future vaccine design that would include elements of both the vector and the pathogen.

  17. An unusual presentation of Wegener disease of the cervix: presenting as cervical cancer.

    Science.gov (United States)

    Oladipo, Abi; Sathiyathasan, Sahathevan; Thomas, Syamala; Jeyanthan, Kannapar; Hakeem-Habeeb, Yewnade

    2011-10-01

    : Wegener granulomatosis is a rare autoimmune disease of unknown cause. It commonly affects the respiratory tracts, lungs, and kidneys.Involvement of the uterine cervix is rare, with only 4 previously published cases in the literature. : This is a case report. : We describe the unusual presentation of Wegener granulomatosis involving the uterine cervix, presenting as cervical cancer. : A review of previously published cases of Wegener granulomatosis involving the uterine cervix is presented.We report the first case of Wegener granulomatosis involving the cervix without antecedent diagnosis or treatment of Wegener granuloma in any other organ.

  18. Cirrhosis: An Unusual Presentation of Sickle Cell Disease

    OpenAIRE

    Dosi, Rupal; Patell, Rushad; Jariwala, Pooja; Shah, Purav; Jasdanwala, Sarfaraz

    2015-01-01

    Hepatobiliary complications of sickle cell disease are relatively rare but well recognised in literature. Clinical syndromes range from mild intrahepatic cholestasis and gallstones to life threatening sequestration crisis. Most patients, homozygous for sickle cell anaemia, present before adolescence. We report a case of an adult man with no prior symptoms who presented for the first time with decompensated cirrhosis, which was found to be due to underlying previously unrecognised sickle cell ...

  19. [Second degree atrioventricular block in mixed connective tissue disease].

    Science.gov (United States)

    Vinsonneau, U; Delluc, A; Bergez, C; Caumes, D; Talarmin, F

    2005-08-01

    Mixed connective tissue disease (MCTD) is characterized by overlapping features of progressive systemic sclerosis, dermatomyositis and systemic lupus erythematosus, and by high rate of antibodies to an extractable nuclear antigen ribonucleoprotein. Cardiac manifestations in MTCD are rare. A 58 years old man was admitted for mild fever, a impairment of the general status, muscular pain and a Raynaud's phenomenon. Biologic abnormalities were an inflammatory syndrome, elevated serum CPK and high rate anti-RNP antibodies. Diagnosis of mixed connective tissue disease was made. Shortly after, a Wenckebach atrioventricular block occurred. Systemic corticosteroids were efficient. Heart blocks are rarely described in MCTD. Three cases have been reported. It's a systemic complication resulting of an inflammatory process often responsive to steroids.

  20. Epicardial adipose tissue in endocrine and metabolic diseases.

    Science.gov (United States)

    Iacobellis, Gianluca

    2014-05-01

    Epicardial adipose tissue has recently emerged as new risk factor and active player in metabolic and cardiovascular diseases. Albeit its physiological and pathological roles are not completely understood, a body of evidence indicates that epicardial adipose tissue is a fat depot with peculiar and unique features. Epicardial fat is able to synthesize, produce, and secrete bioactive molecules which are then transported into the adjacent myocardium through vasocrine and/or paracrine pathways. Based on these evidences, epicardial adipose tissue can be considered an endocrine organ. Epicardial fat is also thought to provide direct heating to the myocardium and protect the heart during unfavorable hemodynamic conditions, such as ischemia or hypoxia. Epicardial fat has been suggested to play an independent role in the development and progression of obesity- and diabetes-related cardiac abnormalities. Clinically, the thickness of epicardial fat can be easily and accurately measured. Epicardial fat thickness can serve as marker of visceral adiposity and visceral fat changes during weight loss interventions and treatments with drugs targeting the fat. The potential of modulating the epicardial fat with targeted pharmacological agents can open new avenues in the pharmacotherapy of endocrine and metabolic diseases. This review article will provide Endocrine's reader with a focus on epicardial adipose tissue in endocrinology. Novel, established, but also speculative findings on epicardial fat will be discussed from the unexplored perspective of both clinical and basic Endocrinologist.

  1. Addison's disease presenting as acute chest syndrome: Case report ...

    African Journals Online (AJOL)

    Addison's disease presenting as acute chest syndrome: Case report and review of literature. MR Akpa, OJ Odia. Abstract. No Abstract. Nigerian Journal of Medicine Vol. 15 (4) October-December 2006: 451-452. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  2. Cervical degenerative disc disease: epidemiology, natural history, clinical presentation.

    Directory of Open Access Journals (Sweden)

    L. Kollintzas

    2017-03-01

    Full Text Available Cervical Degenerative Disc Disease (CDDD is a common diagnosis for patients with neck and arm pain. Abnormal MRI or x-ray findings are not enough to establish diagnosis and propose therapeutic intervention. Epidemiology, natural history and clinical syndromes related with CDDD are presented in detail.

  3. Clinical presentation of Parkinson's disease among Sudanese patients

    African Journals Online (AJOL)

    Parkinson Disease (PD) is a neurodegenerative disorder affecting motor system. It is a chronic progressive disorder leading to long standing disability. Objective: To study the clinical presentation of PD among Sudanese patients seen at Elshaab Teaching Hospital during the period from May2004-April 2008. Methodology: ...

  4. Hirschsprung's disease presenting in the neonatal period in Jos ...

    African Journals Online (AJOL)

    Results: From January 1996 – December 2004, 78 children were managed for Hirschsprung's disease in our unit. Thirty-one (39.7%) were aged 30 days or below. ... presented with enterocolitis while in five there was delayed passage of meconium and recurrent constipation. Barium enema was done in 25 and rectal biopsy ...

  5. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  6. Laser-generated ultrasound for high-precision cutting of tissue-mimicking gels (Conference Presentation)

    Science.gov (United States)

    Lee, Taehwa; Luo, Wei; Li, Qiaochu; Guo, L. Jay

    2017-03-01

    Laser-generated focused ultrasound has shown great promise in precisely treating cells and tissues by producing controlled micro-cavitation within the acoustic focal volume (biomaterials on the rigid substrates. By using laser-generated focused ultrasound without relying on sound-reflecting substrates, we demonstrate free-field cavitation in water and its application to high-precision cutting of tissue-mimicking gels. In the absence of a rigid boundary, strong pressure for cavitation was enabled by recently optimized photoacoustic lens with increased focal gain (>30 MPa, negative pressure amplitude). By moving cavitation spots along pre-defined paths through a motorized stage, tissue-mimicking gels of different elastic moduli were cut into different shapes (rectangle, triangle, and circle), leaving behind the same shape of holes, whose sizes are less than 1 mm. The cut line width is estimated to be less than 50 um (corresponding to localized cavitation region), allowing for accurate cutting. This novel approach could open new possibility for in-vivo treatment of diseased tissues in a high-precision manner (i.e., high-precision invisible sonic scalpel).

  7. Present dose limits and their relation to radiosensitivity of different organs and tissues

    International Nuclear Information System (INIS)

    Anon.

    1987-01-01

    Dose equivalent limits in relation to dose thresholds are considered for injury of various tissues and organs to evaluate the protection agains non-stochastic irradiation effects by the existing system of dose limitation for radiotherapeutic personnel. Data on tissue radiosensitivity in relation to non-stochastic effects, obtained from radiotherapeutic experience, are presented. Dose threshold values, derived for patients, with a correction in the direction of increase, may be applied to conditions of occupational exposure except for bone marrow, gonads and eye lens, where threshold doses are lower

  8. Key points in the presentation of the infectious bursal disease

    Directory of Open Access Journals (Sweden)

    Javier Andrés Jaimes-Olaya

    2009-06-01

    Full Text Available The infectious bursal disease or Gumboro disease is an immunosuppressive pathology of birds, which has great importance in the poultry industry due to large economic losses that it produces not only for its direct effect, but because of the susceptibility to secondary infections, interference with commercial vaccines, reducing the effective use of them. The disease is produced by the infectious bursal disease virus (IBDV, which is an RNA genome birnavirus, with high capacity for mutation, so the agent is continually evolving. The pathology has three types of clinical presentation: a subclinical form, a mild or moderate clinical form and a severe clinical form. However, the type of manifestation is determined mainly by three factors: the age of birds at the time of infection, the type of strain or acting or genetic variability of it, and the immunity degree. In this article, we discuss each of these factors and their importance in the presentation of the disease. These elements are vital in order to establish effective prevention and control programs.

  9. Automated tissue classification of intracardiac optical coherence tomography images (Conference Presentation)

    Science.gov (United States)

    Gan, Yu; Tsay, David; Amir, Syed B.; Marboe, Charles C.; Hendon, Christine P.

    2016-03-01

    Remodeling of the myocardium is associated with increased risk of arrhythmia and heart failure. Our objective is to automatically identify regions of fibrotic myocardium, dense collagen, and adipose tissue, which can serve as a way to guide radiofrequency ablation therapy or endomyocardial biopsies. Using computer vision and machine learning, we present an automated algorithm to classify tissue compositions from cardiac optical coherence tomography (OCT) images. Three dimensional OCT volumes were obtained from 15 human hearts ex vivo within 48 hours of donor death (source, NDRI). We first segmented B-scans using a graph searching method. We estimated the boundary of each region by minimizing a cost function, which consisted of intensity, gradient, and contour smoothness. Then, features, including texture analysis, optical properties, and statistics of high moments, were extracted. We used a statistical model, relevance vector machine, and trained this model with abovementioned features to classify tissue compositions. To validate our method, we applied our algorithm to 77 volumes. The datasets for validation were manually segmented and classified by two investigators who were blind to our algorithm results and identified the tissues based on trichrome histology and pathology. The difference between automated and manual segmentation was 51.78 +/- 50.96 μm. Experiments showed that the attenuation coefficients of dense collagen were significantly different from other tissue types (P < 0.05, ANOVA). Importantly, myocardial fibrosis tissues were different from normal myocardium in entropy and kurtosis. The tissue types were classified with an accuracy of 84%. The results show good agreements with histology.

  10. Metastatic cervical carcinoma of the jaw presenting as periapical disease.

    Science.gov (United States)

    Torregrossa, V R; Faria, K M; Bicudo, M M; Vargas, P A; Almeida, O P; Lopes, M A; Santos-Silva, A R

    2016-02-01

    To present a case report of a metastasis from cervical cancer to the maxilla, which was misdiagnosed as periapical disease and to caution clinicians that metastases could have a disguised clinical presentation that must be taken into account in the differential diagnosis of periapical disease in oncologic patients. Although metastatic tumours of the jaws are uncommon, they may mimic benign inflammatory processes and reactive lesions. The ability of metastatic lesions to mimic periapical disease is discussed and a brief review of the literature is presented, emphasizing the importance of correct diagnosis to prevent delay in diagnosing cancer. Attention should therefore be given to the patient's medical history, especially of those with a previous history of cancer, and all dental practitioners should be aware of the possibility of metastases that may be confused with periapical disease. Finally, endodontists are well placed to recognize malignant and metastatic oral lesions during the initial clinical stages, given that their treatments are usually based on frequent dental appointments and long-term follow-ups. © 2015 International Endodontic Journal. Published by John Wiley & Sons Ltd.

  11. Pin Worms Presenting as Suspected Crohn’s Disease

    Science.gov (United States)

    Al-Saffar, Farah; Najjar, Nimeh; Ibrahim, Saif; Clark, Matthew

    2015-01-01

    Patient: Female, 24 Final Diagnosis: Pinworms infection Symptoms: Abdominal pain • bloating Medication: — Clinical Procedure: Colonoscopy and biopsy Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Inflammatory bowel disease (IBD) is well recognized in developed countries and is generally among the differential diagnoses of young patients presenting with refractory diarrhea once other more common etiologies have been excluded. Pinworm infections, on the other hand, are not as common among adults in the United States. Case Report: Based on computed tomography features, a 24-year-old female patient with a history of multiple autoimmune disorders presented with abdominal pain and was diagnosed recently with Crohn’s disease. Colonoscopy was significant for pinworms seen throughout the colon. Colonic biopsy was negative for inflammatory bowel disease (IBD)-related changes. Conclusions: The diagnosis of IBD is a serious label that requires biopsy confirmation before committing to possibly lifelong treatment and possible adverse effects. Even in the most typical patient and when the presentation and imaging are classical, uncommon conditions (like Enterobius infection in this case) may preclude appropriate diagnosis and management. PMID:26471462

  12. Linear Darier's disease: A case with bilateral presentation

    Directory of Open Access Journals (Sweden)

    Anal Jyoti Bordoloi

    2015-01-01

    Full Text Available Darier's disease is an autosomal dominant genodermatosis characterized by a persistent eruption of hyperkeratotic greasy papules mainly over the seborrheic sites of the body, usually associated with nail abnormalities and sometimes with mucous membrane lesions. The lesions typically occur in the younger age group and are associated with pruritus. We report here an atypical case of Linear Darier's disease with bilateral presentation in a middle-aged adult that could be confused with conditions such as lichen planus, inflammatory linear verrucous epidermal nevus, and wart.

  13. An unusual presentation of gastric mucosa-associated lymphoid tissue (MALT-type lymphoma

    Directory of Open Access Journals (Sweden)

    Bikram Shrestha

    2016-09-01

    Full Text Available Mucosa-associated lymphoid tissue (MALT-type lymphoma is a relatively rare disease; nevertheless, it is the third most common lymphoma type, accounting for 5–7% of all non-Hodgkin lymphomas. Case series and retrospective analysis published in the literature have suggested that extra gastrointestinal (GI MALT-type lymphoma can occur simultaneously with MALT-type lymphoma involving the GI tract. We report the case of a healthy, 64-year-old Caucasian male who presented with progressive fatigue, non-productive cough, and worsening exertional shortness of breath for 3 months who was subsequently diagnosed with gastric extra-nodal marginal zone B-cell lymphoma or MALToma with simultaneous metastasis to the lung (bronchi based on biopsy reports. Case presentation: A 64-year-old Caucasian male presented to the emergency room complaining of progressive fatigue for 3 months which had progressed to the point of hindering his usual activities of daily living (ADL. He had recently visited his primary care provider for evaluation of a non-productive cough and exertional shortness of breath. A chest radiography obtained at the time showed bilateral infiltrates. He was then treated for atypical pneumonia but his symptoms unfortunately did not improve. Initial investigations in the emergency room revealed severe anemia and a positive stool guaiac test. Imaging showed bilateral pulmonary infiltrates and an irregular gastric mass. Gastric and transbronchial biopsies were suggestive of extra-nodal marginal zone B-cell lymphoma with simultaneous metastasis to the bronchi. He was treated symptomatically with transfusion of packed red blood cells (PRBC and intravenous iron followed by radiotherapy. Helicobacter pylori infection was ruled out eliminating the possibility of treating him with eradication therapy. Conclusion: Although the stomach is the most common and most extensively studied site of involvement of MALT lymphomas, they can also emerge in many other

  14. Presentation of undiagnosed mixed mitral valve disease during caesarean section

    Directory of Open Access Journals (Sweden)

    Michelle R. Cole

    2014-01-01

    Full Text Available This report describes a woman presenting for an elective caesarean section, with undiagnosed valvular heart disease. She had recent hospital admissions for respiratory dysfunction. Soon after the initial surgical incision, she became asystolic for 20-30 s with an un-recordable blood pressure. She was treated with anticholinergics and became cardiovascularly stable enough for the procedure to continue. However, she had deteriorating respiratory function. A transthoracic echocardiogram in recovery demonstrated mixed mitral valve (MV disease, moderate mitral stenosis, and severe mitral regurgitation with evidence of severe pulmonary hypertension. She had a dilated left atrium, dilated right ventricle with pulmonary artery systolic pressures of 100 mmHg. She underwent a period of medical optimization followed by a mechanical MV replacement 6 weeks postdelivery. This case attempts to highlight the diagnostic dilemma of unknown maternal cardiac disease. The growing popularity of echocardiography as a diagnostic tool among anaesthetists and critical care physicians proved pivotal in this case.

  15. Wilson's disease in children with blindness: an atypical presentation.

    Science.gov (United States)

    Rukunuzzaman, M; Karim, M B; Rahman, M M; Islam, M S; Mazumder, M W

    2013-01-01

    Wilson's disease (WD) is an autosomal recessive disease affecting copper metabolism causing copper induced organ damage. Common organs involved are liver and central nervous system. But RBC, eye, kidneys and bone may also be affected. In WD main defect remains in copper transporter protein p type ATPase resulting from gene mutation in chromosome 13. Neurological manifestations in WD develop due to deposition of copper in different brain areas like basal ganglia, cerebral cortex, corticospinal and corticobulbar pathway. Different types of neurological manifestations develop in WD but visual impairment is very rare. A 14 years old boy of WD presented to us with blindness, tremor and slurred speech along with end stage liver disease. Blindness was thought to be due to optic neuropathy which reversed after drug treatment.

  16. Genetics of Common Endocrine Disease: The Present and the Future.

    Science.gov (United States)

    Goodarzi, Mark O

    2016-03-01

    In honor of the 75th issue of the Journal of Clinical Endocrinology and Metabolism, the author was invited to present his perspectives on genetics in human endocrinology. This paper reviews what the field has achieved in the genetics of common endocrine disease, and offers predictions on where the field will move in the future and its impact on endocrine clinical practice. The October 2015 data release of the National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) Catalog of Published Genome-wide Association Studies was queried regarding endocrinologic diseases and traits. PubMed searches were focused on genetic prediction of disease, genetic findings and drug targets, functional interrogation of genetic loci, use of genetics to subtype disease, missing heritability, systems genomics, and higher order chromatin structures as regulators of gene function. Nearly a quarter of genome wide association study findings concern endocrinologic diseases and traits. While these findings have not yet dramatically altered clinical care, genetics will have a major impact by providing the drug targets of tomorrow, facilitated by experimental and bioinformatic advances that will shorten the time from gene discovery to drug development. Use of genetic findings to subtype common endocrine disease will allow more precise prevention and treatment efforts. Future advances will allow us to move away from the common view of DNA as a string of letters, allowing exploration of higher order structure that likely explains much "missing heritability." The future will see a greater role of genetics at the bedside, with genetic epidemiologic discoveries leading not only to new treatments of endocrine disease, but also helping us prescribe the right drug to the right patients by allowing subclassification of common heterogeneous endocrine conditions. Future technological breakthroughs will reveal the heritable mysteries hidden in chromatin structure, leading to a

  17. Clinical presentation & management of glomerular diseases: hematuria, nephritic & nephrotic syndrome.

    Science.gov (United States)

    Khanna, Ramesh

    2011-01-01

    Because the differential diagnosis for glomerulonephritis (GN) is broad, using a classification schema is helpful to narrow the causes of GN in a systematic manner. The etiology of glomerulonephritis can be classified by their clinical presentation (nephrotic, nephritic, rapidly progressive GN, chronic GN) or by histopathology. GN may be restricted to the kidney (primary glomerulonephritis) or be a secondary to a systemic disease (secondary glomerulonephritis). The nephrotic syndrome is defined by the presence of heavy proteinuria (protein excretion greater than 3.0 g/24 hours), hypoalbuminemia (less than 3.0 g/dL), and peripheral edema. Hyperlipidemia and thrombotic disease may be present. The nephritic syndrome is associated with hematuria and proteinuria and abnormal kidney function and carries poorer prognosis and is typically associated with hypertension. The predominant cause of the nephrotic syndrome in children is minimal change disease. The most common causes of nephritic syndrome are post infectious GN, IgA nephropathy and lupus nephritis. Chronic GN is slowly progressive and is associated with hypertension and gradual loss of kidney function. Treatment includes non-specific measure aimed at controlling hypertension, edema, proteinuria and disease modifying immunosuppression.

  18. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  19. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  20. A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

    Directory of Open Access Journals (Sweden)

    Ghulam Rehman Mohyuddin

    2012-01-01

    Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

  1. Generalised pruritus as a presentation of Grave’s disease

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    Tan CE

    2013-05-01

    Full Text Available Pruritus is a lesser known symptom of hyperthyroidism, particularly in autoimmune thyroid disorders. This is a case report of a 27-year-old woman who presented with generalised pruritus at a primary care clinic. Incidental findings of tachycardia and a goiter led to the investigations of her thyroid status. The thyroid function test revealed elevated serum free T4 and suppressed thyroid stimulating hormone levels. The anti-thyroid antibodies were positive. She was diagnosed with Graves’ disease and treated with carbimazole until her symptoms subsided. Graves’ disease should be considered as an underlying cause for patients presenting with pruritus. A thorough history and complete physical examination are crucial in making an accurate diagnosis. Underlying causes must be determined before treating the symptoms.

  2. Patterns of clinical presentation of adult coeliac disease in a rural setting

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    D'Souza Charles

    2006-09-01

    Full Text Available Abstract Background In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. Aim The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. Methods This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. Results Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. Conclusion Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority

  3. Graves' disease presenting as pyrexia of unknown origin.

    OpenAIRE

    Shaked, Y.; Samra, Y.; Zwas, S. T.

    1988-01-01

    Fever is a common clinical manifestation of inflammatory processes of the thyroid and thyroid crisis. On the other hand, fever alone as a presenting symptom of thyrotoxicosis, without other manifestations, is extremely rare. A female patient is described in whom fever persisted for two months prior to hospitalization, but without clinical symptoms or signs to lead to suspicion of thyroid disease. After exhaustive investigation it was found that the patient was suffering from hyperthyroidism. ...

  4. Coeliac disease in children presenting with failure to thrive.

    Science.gov (United States)

    Ikram, Muhammad Asim; Sajid, Aisha; Hameed, Sadia; Arshad, Kashan; Irshad-ul-Haq

    2011-01-01

    Coeliac disease used to be considered as a disease of European and Western population but now it has emerged as a global problem. Objective of this study was to evaluate the frequency and mode of presentation of coeliac disease in children presenting with failure to thrive. This cross-sectional descriptive study was conducted at Paediatrics Department of Madina Teaching Hospital in collaboration with Histopathology Department of University Medical and Dental College, Faisalabad over a period from April 2010 to March 2011. A total of 60 children, aged 4-6 years presenting as failure to thrive according to their height and weight, were included. Relevant investigations were done along with radiological assessment of bone age. The jejunal biopsy was taken in all the patients. Children who were suffering from primary or secondary malnutrition due to other chronic illnesses and malabsorptive syndromes were excluded from the study. The data was analysed using SPSS-17. Chi-square test was used and p failure to thrive, unexplained anaemia, rickets, abdominal distension and abdominal pain.

  5. Microbiome Heterogeneity Characterizing Intestinal Tissue and Inflammatory Bowel Disease Phenotype.

    Science.gov (United States)

    Tyler, Andrea D; Kirsch, Richard; Milgrom, Raquel; Stempak, Joanne M; Kabakchiev, Boyko; Silverberg, Mark S

    2016-04-01

    Inflammatory bowel disease has been associated with differential abundance of numerous organisms when compared to healthy controls (HCs); however, few studies have investigated variability in the microbiome across intestinal locations and how this variability might be related to disease location and phenotype. In this study, we have analyzed the microbiome of a large cohort of individuals recruited at Mount Sinai Hospital in Toronto, Canada. Biopsies were taken from subjects with Crohn's disease, ulcerative colitis, and HC, and also individuals having undergone ileal pouch-anal anastomosis for treatment of ulcerative colitis or familial adenomatous polyposis. Microbial 16S rRNA was sequenced using the Illumina MiSeq platform. We observed a great deal of variability in the microbiome characterizing different sampling locations. Samples from pouch and afferent limb were comparable in microbial composition. When comparing sigmoid and terminal ileum samples, more differences were observed. The greatest number of differentially abundant microbes was observed when comparing either pouch or afferent limb samples to sigmoid or terminal ileum. Despite these differences, we were able to observe modest microbial variability between inflammatory bowel disease phenotypes and HCs, even when controlling for sampling location and additional experimental factors. Most detected associations were observed between HCs and Crohn's disease, with decreases in specific genera in the families Ruminococcaceae and Lachnospiraceae characterizing tissue samples from individuals with Crohn's disease. This study highlights important considerations when analyzing the composition of the microbiome and also provides useful insight into differences in the microbiome characterizing these seemingly related phenotypes.

  6. Chagas Disease Diagnostic Applications: Present Knowledge and Future Steps.

    Science.gov (United States)

    Balouz, V; Agüero, F; Buscaglia, C A

    2017-01-01

    Chagas disease, caused by the protozoan Trypanosoma cruzi, is a lifelong and debilitating illness of major significance throughout Latin America and an emergent threat to global public health. Being a neglected disease, the vast majority of Chagasic patients have limited access to proper diagnosis and treatment, and there is only a marginal investment into R&D for drug and vaccine development. In this context, identification of novel biomarkers able to transcend the current limits of diagnostic methods surfaces as a main priority in Chagas disease applied research. The expectation is that these novel biomarkers will provide reliable, reproducible and accurate results irrespective of the genetic background, infecting parasite strain, stage of disease, and clinical-associated features of Chagasic populations. In addition, they should be able to address other still unmet diagnostic needs, including early detection of congenital T. cruzi transmission, rapid assessment of treatment efficiency or failure, indication/prediction of disease progression and direct parasite typification in clinical samples. The lack of access of poor and neglected populations to essential diagnostics also stresses the necessity of developing new methods operational in point-of-care settings. In summary, emergent diagnostic tests integrating these novel and tailored tools should provide a significant impact on the effectiveness of current intervention schemes and on the clinical management of Chagasic patients. In this chapter, we discuss the present knowledge and possible future steps in Chagas disease diagnostic applications, as well as the opportunity provided by recent advances in high-throughput methods for biomarker discovery. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Chagas disease diagnostic applications: present knowledge and future steps

    Science.gov (United States)

    Balouz, Virginia; Agüero, Fernán; Buscaglia, Carlos A.

    2017-01-01

    Chagas disease, caused by the protozoan Trypanosoma cruzi, is a life-long and debilitating illness of major significance throughout Latin America, and an emergent threat to global public health. Being a neglected disease, the vast majority of Chagasic patients have limited access to proper diagnosis and treatment, and there is only a marginal investment into R&D for drug and vaccine development. In this context, identification of novel biomarkers able to transcend the current limits of diagnostic methods surfaces as a main priority in Chagas disease applied research. The expectation is that these novel biomarkers will provide reliable, reproducible and accurate results irrespective of the genetic background, infecting parasite strain, stage of disease, and clinical-associated features of Chagasic populations. In addition, they should be able to address other still unmet diagnostic needs, including early detection of congenital T. cruzi transmission, rapid assessment of treatment efficiency or failure, indication/prediction of disease progression and direct parasite typification in clinical samples. The lack of access of poor and neglected populations to essential diagnostics also stress the necessity of developing new methods operational in Point-of-Care (PoC) settings. In summary, emergent diagnostic tests integrating these novel and tailored tools should provide a significant impact on the effectiveness of current intervention schemes and on the clinical management of Chagasic patients. In this chapter, we discuss the present knowledge and possible future steps in Chagas disease diagnostic applications, as well as the opportunity provided by recent advances in high-throughput methods for biomarker discovery. PMID:28325368

  8. Optical biopsy of tissue with Mueller polarimetry: theory and experiments (Conference Presentation)

    Science.gov (United States)

    Novikova, Tatiana; Meglinski, Igor; Garcia-Caurel, Enric; Bykov, Alexander; Rehbinder, Jean; Deby, Stanislas; Vizet, Jérémy; Pierangelo, Angelo; Moreau, François; Validire, Pierre; Benali, Abdelali; Gayet, Brice; Teig, Benjamin; Nazac, André; Ossikovski, Razvigor

    2017-02-01

    The rise of optical biopsy as an alternative to classical biopsy is dictated by ongoing technological progress: any type of measurements has to be fast, precise, non-invasive and implemented in-vivo. The use of polarized light for optical biopsy has a long history. As Mueller-Stokes formalism provides the most complete description of polarized light interaction with any type of sample (even depolarizing one) we explored the capabilities of in-house multi-wavelength Mueller imaging polarimeter for the detection of pre-malignancy and malignancy. Our studies were performed with both scattering phantom tissues (in transmission configuration) and specimens of human colon and uterine cervix (in backscattering configuration). For the interpretation of measurement results we decomposed Mueller matrix of a sample into product of elementary Mueller matrices of homogeneous diattenuator, retarder, and depolarizer. This phenomenological approach does not require the exact solution of Maxwell equations and provides the "effective" values of polarimetric properties of sample. Exploring differential Mueller matrix formalism for fluctuating medium we showed that depolarization in homogeneous turbid medium varied parabolically with the pathlength of transmitted light, while the standard deviation of elementary polarization properties of medium depends linearly on the concentration of scatterers. Neither scattering phantoms nor human tissue possessed any measurable diattenuation in backscattering configuration. The polarimetric images of tissue depolarization power, scalar birefringence and orientation of optical axis were compared with the analysis of histological slides. The spectral dependence of depolarization power and scalar birefringence values ascertained the potential of imaging Mueller polarimetry to discriminate healthy and diseased tissue zones.

  9. Chagas disease: Present status of pathogenic mechanisms and chemotherapy

    Directory of Open Access Journals (Sweden)

    Juan Diego Maya

    2010-01-01

    Full Text Available There are approximately 7.8 million people in Latin America, including Chile, who suffer from Chagas disease and another 28 million who are at risk of contracting it. Chagas is caused by the flagellate protozoan Trypanosoma cruzi. It is a chronic disease, where 20%-30% of infected individuals develop severe cardiopathy, with heart failure and potentially fatal arrhythmias. Currently, Chagas disease treatment is more effective in the acute phase, but does not always produce complete parasite eradication during indeterminate and chronic phases. At present, only nifurtimox or benznidazole have been proven to be superior to new drugs being tested. Therefore, it is necessary to find alternative approaches to treatment of chronic Chagas. The current treatment may be rendered more effective by increasing the activity of anti-Chagasic drugs or by modifying the host's immune response. We have previously shown that glutathione synthesis inhibition increases nifurtimox and benznidazole activity. In addition, there is increasing evidence that cyclooxygenase inhibitors present an important effect on T. cruzi infection. Therefore, we found that aspirin reduced the intracellular infection in RAW 264.7 cells and, decreased myocarditis extension and mortality rates in mice. However, the long-term benefit of prostaglandin inhibition for Chagasic patients is still unknown.

  10. Atypical presentation of late-onset Tay-Sachs disease.

    Science.gov (United States)

    Deik, Andres; Saunders-Pullman, Rachel

    2014-05-01

    Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

  11. Subcellular metabolic contrast in living tissue using dynamic full field OCT (D-FFOCT) (Conference Presentation)

    Science.gov (United States)

    Apelian, Clement; Harms, Fabrice; Thouvenin, Olivier; Boccara, Claude A.

    2016-03-01

    Cells shape or density is an important marker of tissues pathology. However, individual cells are difficult to observe in thick tissues frequently presenting highly scattering structures such as collagen fibers. Endogenous techniques struggle to image cells in these conditions. Moreover, exogenous contrast agents like dyes, fluorophores or nanoparticles cannot always be used, especially if non-invasive imaging is required. Scatterers motion happening down to the millisecond scale, much faster than the fix and highly scattering structures (global motion of the tissue), allowed us to develop a new approach based on the time dependence of the FF-OCT signals. This method reveals hidden cells after a spatiotemporal analysis based on singular value decomposition and wavelet analysis concepts. It does also give us access to local dynamics of imaged scatterers. This dynamic information is linked with the local metabolic activity that drives these scatterers. Our technique can explore subcellular scales with micrometric resolution and dynamics ranging from the millisecond to seconds. By this mean we studied a wide range of tissues, animal and human in both normal and pathological conditions (cancer, ischemia, osmotic shock…) in different organs such as liver, kidney, and brain among others. Different cells, undetectable with FF-OCT, were identified (erythrocytes, hepatocytes…). Different scatterer clusters express different characteristic times and thus can be related to different mechanisms that we identify with metabolic functions. We are confident that the D-FFOCT, by accessing to a new spatiotemporal metabolic contrast, will be a leading technique on tissue imaging and could lead to better medical diagnosis.

  12. Purpura fulminans in a patient with mixed connective tissue disease.

    LENUS (Irish Health Repository)

    Murad, Aizuri A

    2013-01-01

    A 43-year-old lady was admitted to the intensive care unit with sepsis. She had a history of mixed connective tissue disease, Raynaud\\'s syndrome and hypothyroidism. 2 days later, she developed a purpuric rash on her face and extremities with a livedoid background. Few days later, her distal fingers and toes became gangrenous which then had to be amputated. Laboratory investigations showed that she was coagulopathic and had multiple organ dysfunctions. Antiphospholipid antibodies were negative; however, protein C and antithrombin III levels were low. A skin biopsy showed fibrinoid necrosis in the vessel wall with microthrombi and red-cell extravasation. A diagnosis of purpura fulminans was made.

  13. A Rare Clinical Presentation of Darier’s Disease

    Directory of Open Access Journals (Sweden)

    Mybera Ferizi

    2013-01-01

    Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

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

    Science.gov (United States)

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

    2015-01-01

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

  15. A Case of ANCA Negative Pauci-immune Crescentic Glomerulonephritis in Mixed Connective Tissue Disease

    Directory of Open Access Journals (Sweden)

    Neena Mampilly

    2015-04-01

    Full Text Available Pauci-immune crescentic glomerulonephritis (CrGN is one of the most common causes of rapidly progressive glomerulonephritis. The majority of patients with pauciimmune CrGN have circulating antineutrophil cytoplasmic autoantibodies (ANCA. Approximately 10% of systemic vasculitides patients test negative for ANCA. Majority of the ANCA negative pauciimmune CrGN described in the literature have not shown associations with connective tissue diseases. Only isolated case reports of associations with systemic lupus erythematosus and scleroderma have been described. We report the case of a 24 yr lady who was diagnosed to have a pauciimmune crescentic glomerulonephritis on renal biopsy, and was found to be ANCA negative. Subsequently her collagen profile revealed a mixed connective tissue disease, even though she did not have any other systemic manifestations of the disease at presentation. We presume that antiendothelial antibodies (AECA may have a role in the pathogenesis of the disease.

  16. Evaluation of an automated connective tissue disease screening assay in Korean patients with systemic rheumatic diseases.

    Directory of Open Access Journals (Sweden)

    Seri Jeong

    Full Text Available This study aimed to evaluate the diagnostic utilities of the automated connective tissues disease screening assay, CTD screen, in patients with systemic rheumatic diseases. A total of 1093 serum samples were assayed using CTD screen and indirect immunofluorescent (IIF methods. Among them, 162 were diagnosed with systemic rheumatic disease, including rheumatoid arthritis (RA, systemic lupus erythematosus (SLE, and mixed connective tissue disease (MCT. The remaining 931 with non-systemic rheumatic disease were assigned to the control group. The median ratios of CTD screen tests were significantly higher in the systemic rheumatic disease group than in the control group. The positive likelihood ratios of the CTD screen were higher than those of IIF in patients with total rheumatic diseases (4.1 vs. 1.6, including SLE (24.3 vs. 10.7. The areas under the receiver operating characteristic curves (ROC-AUCs of the CTD screen for discriminating total rheumatic diseases, RA, SLE, and MCT from controls were 0.68, 0.56, 0.92 and 0.80, respectively. The ROC-AUCs of the combinations with IIF were significantly higher in patients with total rheumatic diseases (0.72 and MCT (0.85 than in those of the CTD screen alone. Multivariate analysis indicated that both the CTD screen and IIF were independent variables for predicting systemic rheumatic disease. CTD screen alone and in combination with IIF were a valuable diagnostic tool for predicting systemic rheumatic diseases, particularly for SLE.

  17. Soft tissue manifestations of early rheumatic disease. Imaging with MRI

    International Nuclear Information System (INIS)

    Treitl, M.; Panteleon, A.; Koerner, M.; Becker-Gaab, C.; Reiser, M.; Wirth, S.

    2006-01-01

    The aim of this study was to evaluate typical magnetic resonance imaging (MRI) findings in early rheumatic diseases manifesting at the soft tissues of the hand using a retrospective analysis. A total of 186 MRI examinations of patients with clinical suspicion of a rheumatic disease were evaluated in a consensus reading by two experienced radiologists. All imaging patterns were assessed with respect to their type and localization. Under blinded and non-blinded conditions diagnoses were correlated with final clinical diagnosis. The most frequent diagnoses were rheumatoid arthritis (RA, 45.7%) and psoriatic arthritis (PsA, 15.6%). The mean correlation between clinical and MRI diagnosis (r) was 0.75 in blinded and 0.853 in non-blinded reading (p [de

  18. Medial rectus muscle myositis as an atypical presentation of mucosa-associated lymphatic tissue lymphoma: a case report

    Directory of Open Access Journals (Sweden)

    Juliana Sá Freire Medrado Dias

    2014-04-01

    Full Text Available Here we describe the rare case of a 55-year-old man with medial rectus muscle myositis as an atypical presentation of non-Hodgkin B-cell mucosa-associated lymphoma (MALT. Pathology and immunohistochemistry of the affected muscle confirmed the diagnosis of a neoplasm. The primary etiology of orbital myositis is Graves' ophthalmopathy, but several other diseases may cause this clinical presentation. Therefore, the neoplastic causes must be eliminated from the differential diagnoses. non-Hodgkin B-cell mucosa-associated lymphoma is the most common histological type of lymphoma in the orbit, with the conjunctiva and lacrimal glands being the most commonly affected sites. However, it may also present in atypical forms involving others sites and tissues.

  19. Behçet disease – Case presentation

    Directory of Open Access Journals (Sweden)

    Lucian M. Ciobîcă

    2016-12-01

    Full Text Available Behcet's disease is a rare and poorly understood condition with multiple systemic manifestations. The disease causes inflammation in blood vessels throughout the body which leads to numerous symptoms that may appear and disappear unpredictable. Case presentation A 33 year old woman was admitted (interned to our clinic. Her family medical history reveals – multiple strokes (father and autoimmune thyroiditis (sister. The onset of her symptomatology was in 2013 and it consisted of fever (39-40 Celsius degrees sicca syndrome and persistent headaches, recurrent oral and genital ulcerations. An important event is essential to be mentioned -the patients has suffered an episode of upper gastrointestinal bleeding (hemoglobin has dropped to 2.5g/dl which has led to cardiac arrestresuscitated. The lab tests showed: C3 hypocomplementemia, Anti-centromere antibodies (-, anti-b2gp1 antibody (+, lupus anticoagulant (+, U1RNP(-. We started to administrate cyclophosphamide to the patient, thus his condition has improved after the 2nd dose. At the 12-month evaluation we were able to see a significant clinical and biological improvement. Conclusions In order to be able to talk about “evidence based medicine” for the management of Bechet’s disease, a large number of clinical trials is required to provide to the attending physicians the necessary data for diagnosis and treatment.

  20. Clinical presentation and management of severe Ebola virus disease.

    Science.gov (United States)

    West, T Eoin; von Saint André-von Arnim, Amélie

    2014-11-01

    Clinicians caring for patients infected with Ebola virus must be familiar not only with screening and infection control measures but also with management of severe disease. By integrating experience from several Ebola epidemics with best practices for managing critical illness, this report focuses on the clinical presentation and management of severely ill infants, children, and adults with Ebola virus disease. Fever, fatigue, vomiting, diarrhea, and anorexia are the most common symptoms of the 2014 West African outbreak. Profound fluid losses from the gastrointestinal tract result in volume depletion, metabolic abnormalities (including hyponatremia, hypokalemia, and hypocalcemia), shock, and organ failure. Overt hemorrhage occurs infrequently. The case fatality rate in West Africa is at least 70%, and individuals with respiratory, neurological, or hemorrhagic symptoms have a higher risk of death. There is no proven antiviral agent to treat Ebola virus disease, although several experimental treatments may be considered. Even in the absence of antiviral therapies, intensive supportive care has the potential to markedly blunt the high case fatality rate reported to date. Optimal treatment requires conscientious correction of fluid and electrolyte losses. Additional management considerations include searching for coinfection or superinfection; treatment of shock (with intravenous fluids and vasoactive agents), acute kidney injury (with renal replacement therapy), and respiratory failure (with invasive mechanical ventilation); provision of nutrition support, pain and anxiety control, and psychosocial support; and the use of strategies to reduce complications of critical illness. Cardiopulmonary resuscitation may be appropriate in certain circumstances, but extracorporeal life support is not advised. Among other ethical issues, patients' medical needs must be carefully weighed against healthcare worker safety and infection control concerns. However, meticulous attention

  1. Development of a Three‐Dimensional Bioengineering Technology to Generate Lung Tissue for Personalized Disease Modeling

    Science.gov (United States)

    Wilkinson, Dan C.; Alva‐Ornelas, Jackelyn A.; Sucre, Jennifer M.S.; Vijayaraj, Preethi; Durra, Abdo; Richardson, Wade; Jonas, Steven J.; Paul, Manash K.; Karumbayaram, Saravanan; Dunn, Bruce

    2016-01-01

    Abstract Stem cell technologies, especially patient‐specific, induced stem cell pluripotency and directed differentiation, hold great promise for changing the landscape of medical therapies. Proper exploitation of these methods may lead to personalized organ transplants, but to regenerate organs, it is necessary to develop methods for assembling differentiated cells into functional, organ‐level tissues. The generation of three‐dimensional human tissue models also holds potential for medical advances in disease modeling, as full organ functionality may not be necessary to recapitulate disease pathophysiology. This is specifically true of lung diseases where animal models often do not recapitulate human disease. Here, we present a method for the generation of self‐assembled human lung tissue and its potential for disease modeling and drug discovery for lung diseases characterized by progressive and irreversible scarring such as idiopathic pulmonary fibrosis (IPF). Tissue formation occurs because of the overlapping processes of cellular adhesion to multiple alveolar sac templates, bioreactor rotation, and cellular contraction. Addition of transforming growth factor‐β1 to single cell‐type mesenchymal organoids resulted in morphologic scarring typical of that seen in IPF but not in two‐dimensional IPF fibroblast cultures. Furthermore, this lung organoid may be modified to contain multiple lung cell types assembled into the correct anatomical location, thereby allowing cell‐cell contact and recapitulating the lung microenvironment. Our bottom‐up approach for synthesizing patient‐specific lung tissue in a scalable system allows for the development of relevant human lung disease models with the potential for high throughput drug screening to identify targeted therapies. Stem Cells Translational Medicine 2017;6:622–633 PMID:28191779

  2. Development of a Three-Dimensional Bioengineering Technology to Generate Lung Tissue for Personalized Disease Modeling.

    Science.gov (United States)

    Wilkinson, Dan C; Alva-Ornelas, Jackelyn A; Sucre, Jennifer M S; Vijayaraj, Preethi; Durra, Abdo; Richardson, Wade; Jonas, Steven J; Paul, Manash K; Karumbayaram, Saravanan; Dunn, Bruce; Gomperts, Brigitte N

    2017-02-01

    Stem cell technologies, especially patient-specific, induced stem cell pluripotency and directed differentiation, hold great promise for changing the landscape of medical therapies. Proper exploitation of these methods may lead to personalized organ transplants, but to regenerate organs, it is necessary to develop methods for assembling differentiated cells into functional, organ-level tissues. The generation of three-dimensional human tissue models also holds potential for medical advances in disease modeling, as full organ functionality may not be necessary to recapitulate disease pathophysiology. This is specifically true of lung diseases where animal models often do not recapitulate human disease. Here, we present a method for the generation of self-assembled human lung tissue and its potential for disease modeling and drug discovery for lung diseases characterized by progressive and irreversible scarring such as idiopathic pulmonary fibrosis (IPF). Tissue formation occurs because of the overlapping processes of cellular adhesion to multiple alveolar sac templates, bioreactor rotation, and cellular contraction. Addition of transforming growth factor-β1 to single cell-type mesenchymal organoids resulted in morphologic scarring typical of that seen in IPF but not in two-dimensional IPF fibroblast cultures. Furthermore, this lung organoid may be modified to contain multiple lung cell types assembled into the correct anatomical location, thereby allowing cell-cell contact and recapitulating the lung microenvironment. Our bottom-up approach for synthesizing patient-specific lung tissue in a scalable system allows for the development of relevant human lung disease models with the potential for high throughput drug screening to identify targeted therapies. Stem Cells Translational Medicine 2017;6:622-633. © 2016 The Authors Stem Cells Translational Medicine published by Wiley Periodicals, Inc. on behalf of AlphaMed Press.

  3. Renal Tissue Oxygenation in Essential Hypertension and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Menno Pruijm

    2013-01-01

    Full Text Available Animal studies suggest that renal tissue hypoxia plays an important role in the development of renal damage in hypertension and renal diseases, yet human data were scarce due to the lack of noninvasive methods. Over the last decade, blood oxygenation level-dependent magnetic resonance imaging (BOLD-MRI, detecting deoxyhemoglobin in hypoxic renal tissue, has become a powerful tool to assess kidney oxygenation noninvasively in humans. This paper provides an overview of BOLD-MRI studies performed in patients suffering from essential hypertension or chronic kidney disease (CKD. In line with animal studies, acute changes in cortical and medullary oxygenation have been observed after the administration of medication (furosemide, blockers of the renin-angiotensin system or alterations in sodium intake in these patient groups, underlining the important role of renal sodium handling in kidney oxygenation. In contrast, no BOLD-MRI studies have convincingly demonstrated that renal oxygenation is chronically reduced in essential hypertension or in CKD or chronically altered after long-term medication intake. More studies are required to clarify this discrepancy and to further unravel the role of renal oxygenation in the development and progression of essential hypertension and CKD in humans.

  4. Primary brain lymphoma presenting as Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Sanchez-Guerra, M.; Leno, C.; Berciano, J. [Servicio de Neurologia, Hospital Univ., Santander (Spain); Cerezal, L. [Servicio de Radiologia, Mompia Hospital, Santander (Spain); Diez, C. [Servicio de Neuroradiologia, Hospital Univ., Santander (Spain); Figols, J. [Servicio de Neuropathologia, Hospital Univ., Santander (Spain)

    2001-01-01

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

  5. An unusual presentation of Kikuchi-Fujimoto disease.

    Science.gov (United States)

    Van den Bergh, Magali; Bauer, Frank A; Posteraro, Anthony F; Thumma, Sudeep; Dasanu, Constantin A

    2014-04-01

    Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, self-limited disease of unknown etiology. This condition is most commonly encountered in Asian and Caucasian females of childbearing age who usually present with cervical lymphadenopathy and fever. Though rarely, KFD has been described in younger African-American females as well. It often mimics more serious conditions such as lymphoma, metastatic solid malignancy, HIV infection, tuberculosis, sarcoidosis, or systemic lupus erythematosus. Although its etiopathogenesis has not been fully elucidated, literature suggests viral or possibly autoimmune components to play a role. We describe a 34-year-old African-American female who presented with constitutional symptoms and polyadenopathy on clinical examination and imaging, of which the portacaval and portahepatis lymph nodes were most prominent. An extensive workup was otherwise unremarkable, and biopsy showed histiocytic necrotizing lymphadenitis. Initially, her clinical condition improved spontaneously, and she required only a short course of oral steroids. Three months later, she relapsed with bilateral cervical adenopathy and constitutional symptoms and was successfully managed again with steroids. Our case is unique with respect to (a) portahepatis and portacaval node enlargement as the dominant adenopathy and (b) her underlying conditions of fibromyalgia and chronic fatigue syndrome.

  6. Anaplastic carcinoma of thyroid gland with widespread soft tissue metastasis: an unusual presentation.

    Science.gov (United States)

    Hassan, Muhammad; Janjua, Taimoor Khalid; Afridi, Hira Khan; Zahid, Naila Anjum

    2017-07-13

    Anaplastic thyroid cancer is the rarest tumour of the thyroid gland, representing only 2% of clinically recognised thyroid cancers. The most common metastatic sites are lungs, followed by the intrathoracic and neck lymph nodes. We report the case of a 62-year-old woman who presented to our setting with multiple soft tissue nodules, thyroid mass, head swelling and weight loss. Radiological investigation showed a large thyroid mass with widespread metastasis in subcutaneous tissues of both upper limbs, chest and abdomen. Metastasis was also found in lungs, skull and adrenal glands after which the patient was diagnosed with stage IVc anaplastic thyroid carcinoma (ATC). After careful consideration of patient's clinical condition with multiple poor prognostic factors, medical therapy was withheld and she was discharged on hospice care. The patient expired after 1 month. In ATC, metastasis to subcutaneous tissue is an extremely rare occurrence of which there is hardly any evidence in literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Connective tissue diseases and noninvasive evaluation of atherosclerosis

    Directory of Open Access Journals (Sweden)

    Ardita G

    2014-06-01

    Full Text Available Giorgio Ardita, Giacomo Failla, Paolo Maria Finocchiaro, Francesco Mugno, Luigi Attanasio, Salvatore Timineri, Michelangelo Maria Di SalvoCardiovascular Department, Angiology Unit, Ferrarotto Hospital, Catania, ItalyAbstract: Connective tissue diseases (CTDs are associated with increased risk of cardiovascular disease due to accelerated atherosclerosis. In patients with autoimmune disorders, in addition to traditional risk factors, an immune-mediated inflammatory process of the vasculature seems to contribute to atherogenesis. Several pathogenetic mechanisms have been proposed, including chronic inflammation and immunologic abnormalities, both able to produce vascular damage. Macrovascular atherosclerosis can be noninvasively evaluated by ultrasound measurement of carotid or femoral plaque. Subclinical atherosclerosis can be evaluated by well-established noninvasive techniques which rely on ultrasound detection of carotid intima-media thickness. Flow-mediated vasodilatation and arterial stiffness are considered markers of endothelial dysfunction and subclinical atherosclerosis, respectively, and have been recently found to be impaired early in a wide spectrum of autoimmune diseases. Carotid intima-media thickness turns out to be a leading marker of subclinical atherosclerosis, and many studies recognize its role as a predictor of future vascular events, both in non-CTD individuals and in CTD patients. In rheumatic diseases, flow-mediated dilatation and arterial stiffness prove to be strongly correlated with inflammation, disease damage index, and with subclinical atherosclerosis, although their prognostic role has not yet been conclusively shown. Systemic lupus erythematosus, rheumatoid arthritis, and likely antiphospholipid syndrome are better associated with premature and accelerated atherosclerosis. Inconclusive results were reported in systemic sclerosis.Keywords: rheumatic disease, subclinical atherosclerosis, arterial stiffness

  8. 3D printing of microtube in solid phantom to simulate tissue oxygenation and perfusion (Conference Presentation)

    Science.gov (United States)

    Lv, Xiang; Xue, Yue; Wang, Haili; Shen, Shu Wei; Zhou, Ximing; Liu, Guangli; Dong, Erbao; Xu, Ronald X.

    2017-03-01

    Tissue-simulating phantoms with interior vascular network may facilitate traceable calibration and quantitative validation of many medical optical devices. However, a solid phantom that reliably simulates tissue oxygenation and blood perfusion is still not available. This paper presents a new method to fabricate hollow microtubes for blood vessel simulation in solid phantoms. The fabrication process combines ultraviolet (UV) rapid prototyping technique with fluid mechanics of a coaxial jet flow. Polydimethylsiloxane (PDMS) and a UV-curable polymer are mixed at the designated ratio and extruded through a coaxial needle device to produce a coaxial jet flow. The extruded jet flow is quickly photo-polymerized by ultraviolet (UV) light to form vessel-simulating solid structures at different sizes ranging from 700 μm to 1000 μm. Microtube structures with adequate mechanical properties can be fabricated by adjusting material compositions and illumination intensity. Curved, straight and stretched microtubes can be formed by adjusting the extrusion speed of the materials and the speed of the 3D printing platform. To simulate vascular structures in biologic tissue, we embed vessel-simulating microtubes in a gel wax phantom of 10 cm x10 cm x 5 cm at the depth from 1 to 2 mm. Bloods at different oxygenation and hemoglobin concentration levels are circulated through the microtubes at different flow rates in order to simulate different oxygenation and perfusion conditions. The simulated physiologic parameters are detected by a tissue oximeter and a laser speckle blood flow meter respectively and compared with the actual values. Our experiments demonstrate that the proposed 3D printing process is able to produce solid phantoms with simulated vascular networks for potential applications in medical device calibration and drug delivery studies.

  9. A Rare Form of Chronic Granulomatous Disease (Type Iva Presenting as Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Francisco A Sylvester

    1996-01-01

    Full Text Available Neutrophil dysfunction syndromes can sometimes mimic the clinical and pathological features of inflammatory bowel disease. The case of a 3.5-year-old boy with chronic diarrhea, abdominal pain, poor growth since infancy and microcytic, hypochromic anemia is presented. After an extensive diagnostic evaluation, he was found to have a rare variant (type IVA of chronic granulomatous disease. His gastrointestinal symptoms markedly improved during therapy with gamma-interferon. Chronic granulomatous disease can present initially with a clinical picture suggestive of chronic intestinal inflammation. Therefore it should be considered in the differential diagnosis of atypical inflammatory bowel disease, both in children and young adults.

  10. Polyarteritis nodosa presenting as peripheral vascular disease and acute limb ischemia

    Directory of Open Access Journals (Sweden)

    A Shukla

    2017-01-01

    Full Text Available Acute limb ischemia and peripheral vascular disease (PVD are unusual presentations of polyarteritis nodosa (PAN. Here, we present a case with PVD of both lower limbs leading to foot claudication. Digital subtraction angiography showed narrowing, irregularity, and occlusion of both lower limb arteries with no involvement of the abdomen visceral arteries. Based on significant weight loss, diastolic blood pressure >90 mmHg, myalgia, testicular pain, and angiographic abnormalities in medium-sized arteries, he was diagnosed as having PAN. He was treated with corticosteroid and bolus intravenous cyclophosphamide following which he had prompt and near-complete recovery of the symptoms without any tissue loss.

  11. Polycystic Kidney Disease with Renal Failure Presenting as Incarcerated Inguinal Hernia in the ED

    Directory of Open Access Journals (Sweden)

    Silman, Eric F

    2009-02-01

    Full Text Available Autosomal dominant polycystic kidney disease may present to the emergency department (ED with vomiting, abdominal pain or hernias, renal insufficiency or failure, or bleeding from cerebral aneurysms. A 37-year-old man presented to the ED with signs and symptoms of incarcerated inguinal hernia. Laboratory studies showed renal failure with anion gap acidosis, and bedside ultrasound showed multicystic kidneys. Computed tomography confirmed the diagnosis. Emergency physicians should be aware of this common connective tissue defect and its serious associated conditions. [WestJEM. 2009;10:55-57

  12. Perinatal-lethal Gaucher disease presenting as hydrops fetalis ...

    African Journals Online (AJOL)

    Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis.

  13. Non-alcoholic fatty liver disease and obesity: biochemical, metabolic and clinical presentations.

    Science.gov (United States)

    Milić, Sandra; Lulić, Davorka; Štimac, Davor

    2014-07-28

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the world. Presentation of the disease ranges from simple steatosis to non-alcoholic steatohepatitis (NASH). NAFLD is a hepatic manifestation of metabolic syndrome that includes central abdominal obesity along with other components. Up to 80% of patients with NAFLD are obese, defined as a body mass index (BMI) > 30 kg/m(2). However, the distribution of fat tissue plays a greater role in insulin resistance than the BMI. The large amount of visceral adipose tissue (VAT) in morbidly obese (BMI > 40 kg/m(2)) individuals contributes to a high prevalence of NAFLD. Free fatty acids derived from VAT tissue, as well as from dietary sources and de novo lipogenesis, are released to the portal venous system. Excess free fatty acids and chronic low-grade inflammation from VAT are considered to be two of the most important factors contributing to liver injury progression in NAFLD. In addition, secretion of adipokines from VAT as well as lipid accumulation in the liver further promotes inflammation through nuclear factor kappa B signaling pathways, which are also activated by free fatty acids, and contribute to insulin resistance. Most NAFLD patients are asymptomatic on clinical presentation, even though some may present with fatigue, dyspepsia, dull pain in the liver and hepatosplenomegaly. Treatment for NAFLD and NASH involves weight reduction through lifestyle modifications, anti-obesity medication and bariatric surgery. This article reviews the available information on the biochemical and metabolic phenotypes associated with obesity and fatty liver disease. The relative contribution of visceral and liver fat to insulin resistance is discussed, and recommendations for clinical evaluation of affected individuals is provided.

  14. Pigmented Bowen's disease presenting with a "starburst" pattern.

    Science.gov (United States)

    Maione, Vincenzo; Errichetti, Enzo; Roussel, Sara Laurent; Lebbé, Celeste

    2016-10-01

    Pigmented Bowen's disease (pBD) is an uncommon in situ squamous cell carcinoma of the skin usually presenting as a dark scaly plaque involving chronically exposed sites, which is not uncommonly mistaken for other similar pigmented lesions, such as melanoma, pigmented basal cell carcinoma or seborrheic keratosis [1,2]. Dermoscopy has been proven to improve its diagnosis by showing several findings, i.e., gray/brownish dots in linear arrangement, scales, coiled vessels, focal/multifocal amorphous hypopigmentation and bluish structureless areas [1,2]. However, pBD may sometimes display dermoscopic features which are typical of other pigmented lesions, thus making its recognition quite troublesome despite the use of dermoscopy [1,2]. We report a case of pBD with a "starburst" pattern, discussing its dermoscopic differential diagnosis.

  15. Synovial hemangiohamartoma presenting as knee pain, swelling and a soft tissue mass: a case report

    Directory of Open Access Journals (Sweden)

    Senol Serkan

    2012-07-01

    Full Text Available Abstract Introduction We present a case of a patient with juxtaarticular hemangiohamartoma with a synovial extension associated with hemorrhagic synovitis and recurrent spontaneous hemarthrosis. Case presentation A 21-year-old Caucasian woman was admitted to our hospital complaining of pain and swelling at her knee for 6 months. In the magnetic resonance imaging, T2-weighted and fat-suppressed scans revealed a mass with high signal intensity just posterior to the patellar tendon. We performed an excisional biopsy of the mass through an anterior longitudinal incision. Excised material included arterial and venous vascular structures, which were found to be spread among the fat, connective and peripheral nerve tissues microscopically. Conclusion Although hemangiohamartomas are not true neoplasms, they may cause knee pain, swelling and hemarthrosis that warrant surgical resection. This lesion, although rare, should be considered in the differential diagnosis, especially in teenagers and young adults.

  16. Mineral Density Volume Gradients in Normal and Diseased Human Tissues

    Science.gov (United States)

    Djomehri, Sabra I.; Candell, Susan; Case, Thomas; Browning, Alyssa; Marshall, Grayson W.; Yun, Wenbing; Lau, S. H.; Webb, Samuel; Ho, Sunita P.

    2015-01-01

    Clinical computed tomography provides a single mineral density (MD) value for heterogeneous calcified tissues containing early and late stage pathologic formations. The novel aspect of this study is that, it extends current quantitative methods of mapping mineral density gradients to three dimensions, discretizes early and late mineralized stages, identifies elemental distribution in discretized volumes, and correlates measured MD with respective calcium (Ca) to phosphorus (P) and Ca to zinc (Zn) elemental ratios. To accomplish this, MD variations identified using polychromatic radiation from a high resolution micro-computed tomography (micro-CT) benchtop unit were correlated with elemental mapping obtained from a microprobe X-ray fluorescence (XRF) using synchrotron monochromatic radiation. Digital segmentation of tomograms from normal and diseased tissues (N=5 per group; 40-60 year old males) contained significant mineral density variations (enamel: 2820-3095mg/cc, bone: 570-1415mg/cc, cementum: 1240-1340mg/cc, dentin: 1480-1590mg/cc, cementum affected by periodontitis: 1100-1220mg/cc, hypomineralized carious dentin: 345-1450mg/cc, hypermineralized carious dentin: 1815-2740mg/cc, and dental calculus: 1290-1770mg/cc). A plausible linear correlation between segmented MD volumes and elemental ratios within these volumes was established, and Ca/P ratios for dentin (1.49), hypomineralized dentin (0.32-0.46), cementum (1.51), and bone (1.68) were observed. Furthermore, varying Ca/Zn ratios were distinguished in adapted compared to normal tissues, such as in bone (855-2765) and in cementum (595-990), highlighting Zn as an influential element in prompting observed adaptive properties. Hence, results provide insights on mineral density gradients with elemental concentrations and elemental footprints that in turn could aid in elucidating mechanistic processes for pathologic formations. PMID:25856386

  17. Mineral density volume gradients in normal and diseased human tissues.

    Directory of Open Access Journals (Sweden)

    Sabra I Djomehri

    Full Text Available Clinical computed tomography provides a single mineral density (MD value for heterogeneous calcified tissues containing early and late stage pathologic formations. The novel aspect of this study is that, it extends current quantitative methods of mapping mineral density gradients to three dimensions, discretizes early and late mineralized stages, identifies elemental distribution in discretized volumes, and correlates measured MD with respective calcium (Ca to phosphorus (P and Ca to zinc (Zn elemental ratios. To accomplish this, MD variations identified using polychromatic radiation from a high resolution micro-computed tomography (micro-CT benchtop unit were correlated with elemental mapping obtained from a microprobe X-ray fluorescence (XRF using synchrotron monochromatic radiation. Digital segmentation of tomograms from normal and diseased tissues (N=5 per group; 40-60 year old males contained significant mineral density variations (enamel: 2820-3095 mg/cc, bone: 570-1415 mg/cc, cementum: 1240-1340 mg/cc, dentin: 1480-1590 mg/cc, cementum affected by periodontitis: 1100-1220 mg/cc, hypomineralized carious dentin: 345-1450 mg/cc, hypermineralized carious dentin: 1815-2740 mg/cc, and dental calculus: 1290-1770 mg/cc. A plausible linear correlation between segmented MD volumes and elemental ratios within these volumes was established, and Ca/P ratios for dentin (1.49, hypomineralized dentin (0.32-0.46, cementum (1.51, and bone (1.68 were observed. Furthermore, varying Ca/Zn ratios were distinguished in adapted compared to normal tissues, such as in bone (855-2765 and in cementum (595-990, highlighting Zn as an influential element in prompting observed adaptive properties. Hence, results provide insights on mineral density gradients with elemental concentrations and elemental footprints that in turn could aid in elucidating mechanistic processes for pathologic formations.

  18. Unusual initial abdominal presentations of invasive meningococcal disease.

    Science.gov (United States)

    Guiddir, Tamazoust; Gros, Marion; Hong, Eva; Terrade, Aude; Denizon, Mélanie; Deghmane, Ala-Eddine; Taha, Muhamed-Kheir

    2018-03-28

    Invasive meningococcal disease (IMD) is recognized as septicemia and/or meningitis. However, early symptoms may vary and are frequently nonspecific. Early abdominal presentations have been increasingly described. We aimed to explore a large cohort of patients with initial abdominal presentations for association with particular meningococcal strains. Confirmed IMD cases in France between 1991-2016 were screened for the presence within the 24 hours before diagnosis of at least one of the following criteria (1) abdominal pain, (2) gastro-enteritis with diarrhea and vomiting, (3) diarrhea only. Whole genome sequencing was performed on all cultured isolates. We identified 105 cases (median age 19 years) of early abdominal presentations with a sharp increase since 2014. Early abdominal pain alone was the most frequent symptom (n=67, 64%), followed by gastro-enteritis (n=26, 25%) and diarrhea alone (n=12, 11%). Twenty patients (20%) had abdominal surgery. A higher case fatality rate (24%) was observed in these cases compared to 10.4% in all IMD in France (p=0.007) with high levels of inflammation markers in the blood. Isolates of group W were significantly more predominant in these cases compared to all IMD. Most of these isolates belonged to clonal complex ST-11 (cc11) of the sublineages of the South American-UK strain. Abdominal presentations are frequently provoked by hyperinvasive isolates of meningococci. Delay in the management of these cases and the virulence of the isolates may explain the high fatality rate. Rapid recognition is a key element to improve their management.

  19. Secreted phospholipase A(2) as a new enzymatic trigger mechanism for localised liposomal drug release and absorption in diseased tissue

    DEFF Research Database (Denmark)

    Davidsen, Jesper; Jørgensen, K.; Andresen, Thomas Lars

    2003-01-01

    Polymer-coated liposomes can act as versatile drug-delivery systems due to long vascular circulation time and passive targeting by leaky blood vessels in diseased tissue. We present an experimental model system illustrating a new principle for improved and programmable drug-delivery, which takes ......-based proenhancers or prodestabilisers into the liposome carrier, which automatically becomes activated by PLA2 only at the diseased target sites, such as inflamed or cancerous tissue....

  20. Quantifying collagen orientation in breast tissue biopsies using SLIM (Conference Presentation)

    Science.gov (United States)

    Majeed, Hassaan; Okoro, Chukwuemeka; Balla, Andre; Toussaint, Kimani C.; Popescu, Gabriel

    2017-02-01

    Breast cancer is a major public health problem worldwide, being the most common type of cancer among women according to the World Health Organization (WHO). The WHO has further stressed the importance of an early determination of the disease course through prognostic markers. Recent studies have shown that the alignment of collagen fibers in tumor adjacent stroma correlate with poorer health outcomes in patients. Such studies have typically been carried out using Second-Harmonic Generation (SHG) microscopy. SHG images are very useful for quantifying collagen fiber orientation due their specificity to non-centrosymmetric structures in tissue, leading to high contrast in collagen rich areas. However, the imaging throughput in SHG microscopy is limited by its point scanning geometry. In this work, we show that SLIM, a wide-field high-throughput QPI technique, can be used to obtain the same information on collagen fiber orientation as is obtainable through SHG microscopy. We imaged a tissue microarray containing both benign and malignant cores using both SHG microscopy and SLIM. The cellular (non-collagenous) structures in the SLIM images were next segmented out using an algorithm developed in-house. Using the previously published Fourier Transform Second Harmonic Generation (FT-SHG) tool, the fiber orientations in SHG and segmented SLIM images were then quantified. The resulting histograms of fiber orientation angles showed that both SHG and SLIM generate similar measurements of collagen fiber orientation. The SLIM modality, however, can generate these results at much higher throughput due to its wide-field, whole-slide scanning capabilities.

  1. Dimensional soft tissue changes following soft tissue grafting in conjunction with implant placement or around present dental implants: a systematic review.

    Science.gov (United States)

    Poskevicius, Lukas; Sidlauskas, Antanas; Galindo-Moreno, Pablo; Juodzbalys, Gintaras

    2017-01-01

    To systematically review changes in mucosal soft tissue thickness and keratinised mucosa width after soft tissue grafting around dental implants. An electronic literature search was conducted of the MEDLINE database published between 2009 and 2014. Sequential screenings at the title, abstract, and full-text levels were performed. Clinical human studies in the English language that had reported changes in soft tissue thickness or keratinised mucosa width after soft tissue grafting at implant placement or around a present implant at 6-month follow-up or longer were included. The search resulted in fourteen articles meeting the inclusion criteria: Six of them reported connective tissue grafting around present dental implants, compared to eight at the time of implant placement. Better long-term soft tissue thickness outcomes were reported for soft tissue augmentation around dental implants (0.8-1.4 mm), compared with augmentation at implant placement (-0.25-1.43 mm). Both techniques were effective in increasing keratinised tissue width: at implant placement (2.5 mm) or around present dental implants (2.33-2.57 mm). The present systematic review discovered that connective tissue grafts enhanced keratinised mucosa width and soft tissue thickness for an observation period of up to 48 months. However, some shrinkage may occur, resulting in decreases in soft tissue, mostly for the first three months. Further investigations using accurate evaluation methods need to be done to evaluate the appropriate time for grafting. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. [Clinical presentation of Moroccan cases with Alzheimer's disease].

    Science.gov (United States)

    El Kadmiri, N; Zaid, Y; Hamzi, K; Nadifi, S; Slassi, I; El Moutawakil, B

    2014-12-01

    The diagnostic approach for Alzheimer's disease is based on the presence of cerebral atrophy combined with the score of the mini-examination of the mental state. In this context, this study was conducted to assess the correlation between imaging and neuropsychological testing for cases of early-onset and late-onset Alzheimer's disease. Analysis of the clinical and paraclinical aspects of Moroccan cases with Alzheimer's disease. Seventeen sporadic cases and 8 family cases were seen at the memory clinic of the Neurology Department of the University of Casablanca Ibn Rochd Hospital. A family history was obtained through a clinical interview of the patient and a yes or no self-reporting questionnaire from the guardian or other family member. The disease was considered familial if at least one additional first degree relative suffered from early-onset AD-type dementia. All patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Written consent was obtained from the patients and their guardians prior to the study. In our study of 25 individuals, the observed mean age of AD patients was 64.52 ± 9.30 and we observed a slight female predominance (56% versus 44%). In addition, we found a prevalence of AD of approximately 20%, increasing with age, in the population below 60 years of age. Approximately half of our patients (48%) had a score lower than 10 and were affected by severe insanity, while 28% were affected by moderate severe insanity and 24% were light to moderately insane. Twenty-five patients underwent neuroimaging, 18 of whom were assessed by MRI, while 7 were assessed by CT. All patients had hippocampal atrophy, which progressed to affect others brain regions. The blood tests showed no abnormalities in the 25 enrolled AD cases. Age is undoubtedly the main risk factor for AD; this is also the true for our cases where advanced age was responsible for the exponential increase of the disease

  3. Clinical Features and Pattern of Presentation of Breast Diseases in ...

    African Journals Online (AJOL)

    Fifty nine of the 70 benign diseases were fibroadenoma. One hundred and three patients (85%) had appropriate therapy, while 18 patients (14.8%), including eight with malignant disease absconded. Conclusion: In the study, a breast lump was the commonest clinical feature of breast disease. Over 60% of these were ...

  4. Pattern of presentation of diseases at the university of Benin ...

    African Journals Online (AJOL)

    The ages of majority of the patients ranged from 21 to 70 years. The most common condition encountered in the clinic was peptic ulcer disease (33.9%), followed by chronic liver disease (15.4%), then acute hepatitis (9.6%), gastroesophageal reflux disease (6.7%), hepatocellular carcinoma (5.9%), and then chronic hepatitis ...

  5. Soft tissue and cellular preservation in vertebrate skeletal elements from the Cretaceous to the present

    Science.gov (United States)

    Schweitzer, Mary Higby; Wittmeyer, Jennifer L; Horner, John R

    2006-01-01

    Soft tissues and cell-like microstructures derived from skeletal elements of a well-preserved Tyrannosaurus rex (MOR 1125) were represented by four components in fragments of demineralized cortical and/or medullary bone: flexible and fibrous bone matrix; transparent, hollow and pliable blood vessels; intravascular material, including in some cases, structures morphologically reminiscent of vertebrate red blood cells; and osteocytes with intracellular contents and flexible filipodia. The present study attempts to trace the occurrence of these four components in bone from specimens spanning multiple geological time periods and varied depositional environments. At least three of the four components persist in some skeletal elements of specimens dating to the Campanian. Fibrous bone matrix is more altered over time in morphology and less likely to persist than vessels and/or osteocytes. Vessels vary greatly in preservation, even within the same specimen, with some regions retaining pliability and other regions almost crystalline. Osteocytes also vary, with some retaining long filipodia and transparency, while others present with short and stubby filipodia and deeply pigmented nuclei, or are pigmented throughout with no nucleus visible. Alternative hypotheses are considered to explain the origin/source of observed materials. Finally, a two-part mechanism, involving first cross-linking of molecular components and subsequent mineralization, is proposed to explain the surprising presence of still-soft elements in fossil bone. These results suggest that present models of fossilization processes may be incomplete and that soft tissue elements may be more commonly preserved, even in older specimens, than previously thought. Additionally, in many cases, osteocytes with defined nuclei are preserved, and may represent an important source for informative molecular data. PMID:17148248

  6. Soft tissue and cellular preservation in vertebrate skeletal elements from the Cretaceous to the present.

    Science.gov (United States)

    Schweitzer, Mary Higby; Wittmeyer, Jennifer L; Horner, John R

    2007-01-22

    Soft tissues and cell-like microstructures derived from skeletal elements of a well-preserved Tyrannosaurus rex (MOR 1125) were represented by four components in fragments of demineralized cortical and/or medullary bone: flexible and fibrous bone matrix; transparent, hollow and pliable blood vessels; intravascular material, including in some cases, structures morphologically reminiscent of vertebrate red blood cells; and osteocytes with intracellular contents and flexible filipodia. The present study attempts to trace the occurrence of these four components in bone from specimens spanning multiple geological time periods and varied depositional environments. At least three of the four components persist in some skeletal elements of specimens dating to the Campanian. Fibrous bone matrix is more altered over time in morphology and less likely to persist than vessels and/or osteocytes. Vessels vary greatly in preservation, even within the same specimen, with some regions retaining pliability and other regions almost crystalline. Osteocytes also vary, with some retaining long filipodia and transparency, while others present with short and stubby filipodia and deeply pigmented nuclei, or are pigmented throughout with no nucleus visible. Alternative hypotheses are considered to explain the origin/source of observed materials. Finally, a two-part mechanism, involving first cross-linking of molecular components and subsequent mineralization, is proposed to explain the surprising presence of still-soft elements in fossil bone. These results suggest that present models of fossilization processes may be incomplete and that soft tissue elements may be more commonly preserved, even in older specimens, than previously thought. Additionally, in many cases, osteocytes with defined nuclei are preserved, and may represent an important source for informative molecular data.

  7. Sjögren's syndrome: An underdiagnosed condition in mixed connective tissue disease

    Directory of Open Access Journals (Sweden)

    Fany Solange Usuba

    2014-03-01

    Full Text Available OBJECTIVE: To determine the prevalence of sicca symptoms, dry eye, and secondary Sjögren's syndrome and to evaluate the severity of dry eye in patients with mixed connective tissue disease. METHODS: In total, 44 consecutive patients with mixed connective tissue disease (Kasukawa's criteria and 41 healthy controls underwent Schirmer's test, a tear film breakup time test, and ocular surface staining to investigate dry eye. In addition, the dry eye severity was graded. Ocular and oral symptoms were assessed using a structured questionnaire. Salivary gland scintigraphy was performed in all patients. Classification of secondary Sjögren's syndrome was assessed according to the American-European Consensus Group criteria. RESULTS: The patients and controls had comparable ages (44.7±12.4 vs. 47.2±12.2 years and frequencies of female gender (93 vs. 95% and Caucasian ethnicity (71.4 vs. 85%. Ocular symptoms (47.7 vs. 24.4% and oral symptoms (52.3 vs. 9.7% were significantly more frequent in patients than in controls. Fourteen (31.8% patients fulfilled Sjögren's syndrome criteria, seven of whom (50% did not have this diagnosis prior to study inclusion. A further comparison of patients with mixed connective tissue disease with or without Sjögren's syndrome revealed that the former presented significantly lower frequencies of polyarthritis and cutaneous involvement than did the patients without Sjögren's syndrome. Moderate to severe dry eye was found in 13 of 14 patients with mixed connective tissue disease and Sjögren's syndrome (92.8%. CONCLUSIONS: Sjögren's syndrome, particularly with moderate to severe dry eye, is frequent in patients with mixed connective tissue disease. These findings alert the physician regarding the importance of the appropriate diagnosis of this syndrome in such patients.

  8. Lyme Disease Presenting as a Spontaneous Knee Effusion.

    Science.gov (United States)

    Matzkin, Elizabeth; Suslavich, Kaytelin; Curry, Emily J

    2015-11-01

    Musculoskeletal complaints, which are frequently associated with Lyme disease, often prompt patients to see a physician. In particular, transient episodes of spontaneous knee effusion are common early in the progression of Lyme disease, and, if left untreated, 60% of patients diagnosed with the disease develop Lyme arthritis. This disease is easily treated with antibiotics; therefore, inclusion of Lyme disease in the differential diagnosis as a potential cause of a spontaneous knee effusion can prevent the development of more severe symptoms associated with the disease. However, the time required to receive test results and the inconsistencies between serum and synovial tests can complicate diagnosis of the disease. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

  9. Hidradenocarcinoma presenting as soft tissue mass: Case report with cytomorphologic description, histologic correlation, and differential diagnosis.

    Science.gov (United States)

    Jinnah, Alexander H; Emory, Cynthia L; Mai, Nicholas H; Bergman, Simon; Salih, Ziyan T

    2016-05-01

    Hidradenocarcinoma (HAC) is a rare adenexal tumor with a propensity for the head and neck region and extremities. We report a case of hidradenocarcinnoma in a 56-year-old woman with a mass on her right palm sampled by fine-needle aspiration and later confirmed on histological examination. Fine-needle aspiration cytology revealed a dual population of cells including polyhedral eosinophilic cells and glycogen containing cells with pale/clear cytoplasm. The nuclei were pleomorphic with prominent nucleoli. Occassional papillary structures were identified on the cell block material. A series of immunohistochemical stains were performed and an adnexal neoplasm was suggested. The mass was resected. On histologic sections, infiltration into the adjacent soft tissue was identified. After an additional series of immunohistochemical stains, the diagnosis was confirmed as a HAC. Herein, we present our findings and discuss the differential diagnoses. © 2016 Wiley Periodicals, Inc.

  10. Aleukemic granulocytic sarcoma presenting at multiple sites: ovary, breast and soft tissue

    Directory of Open Access Journals (Sweden)

    Kachnar Varma

    2012-06-01

    Full Text Available An 18 year old female presented with the history of pain in abdomen, breast engorgement, swelling over both legs and breathlessness for three month. On clinical examination diagnosis of fibroadenoma breast was made. Ultrasonography of abdomen showed bilateral ovarian mass. Bilateral salpingo-ophrectomy was done and specimen was sent for histological examination. Two lobulated solid masses of tissues the larger one measuring 13x8x5 cm and smaller one measuring 10x7x5 cm in size received. Microscopic examination showed monomorphic population of discohesive, hyperchromatic small round cells had high N:C ratio, coarse chromatin, conspicuous nucleoli and scant to moderate amount of basophilic cytoplasm, lying in sheets and separated by fibrous strands and diffusely infiltrating the ovarian stroma. Fine needle aspiration from breast lump and leg swelling showed predominant population of blast cells. Myeloperoxidase was strongly positive and diagnosis of granulocytic sarcoma was confirmed.

  11. Scabies, a Zoonotic Disease : Present and Future Challenge

    Directory of Open Access Journals (Sweden)

    April H Wardhana

    2006-03-01

    Full Text Available Scabies is a contagious skin disease caused by a mite of Sarcoptes scabiei . It is found worldwide particularly in regions related with of poverty, remote area, poor sanitations and nutritional status in both human and animals . Scabies is transmitted by direct contact . The clinical signs are intensive pruritis or itchiness, erythrema, papula and vesicle . Infestation S. scabiei caused damage skin and raised animal death (50 - 100% while 300 millions people per year were reported to suffer from scabies . Diagnosis of scabies is based on clinical signs and confirmed with gently scrapping the skin off burrow (seeking for eggs, faecals and mites . Beside that, the diagnosis can be obtained by ink test, mineral oil or fluorescence tetracycline test . ELISA method for detecting human scabies still has a disadvantage because there is a cross-reaction between host skin and var . S. scabiei antigens . The development of scabies vaccine also has many problems . Some human scabies cases were suspected from their livestock or pet animals . It is required a good and synergic collaboration between both health and livestock agencies that involved both human and vet medicals, investigators, quarantine staffs including researchers. Those factors become a challenge at present and in the future to prevent the spreading of scabies to a larger area and to minimize scabies cases in both human and animal, particularly in the endemic area .

  12. An unusual presenting symptom of graves' disease: myalgia.

    Science.gov (United States)

    Papanikolaou, N; Perros, P

    2013-01-01

    A 50-year-old female patient presented with severe myalgia involving her proximal muscles for 3-4 weeks. She also reported mild thyrotoxic symptoms over the same time period. Examination revealed mild thyrotoxicosis, a moderate diffuse goiter and no eye signs. The clinical picture was dominated by muscle pain and tenderness involving mainly her proximal arms and legs, her calves and her fingers, requiring opiate analgesia. Muscle power and tendon reflexes were normal. Laboratory evaluation revealed undetectable serum thyroid stimulating hormone (TSH) with raised FT4, FT3 and positive TSH receptor antibodies. Treatment with carbimazole was started. Additional laboratory investigations were negative (inflammatory markers, creatine kinase and antibodies to antinuclear antibodies, gastric parietal cell, smooth muscle, mitochondrial, dsDNA, centromere, extractable nuclear antigen (ENA) ribonucleoprotein, ENA Sm, ENA Ro, ENA Anti-La, ENA Scl70, ENA Jo-1, anti-CCP and rheumatoid factor). Further assessment in the rheumatology clinic confirmed there was no small joint tenderness or loss of range of movement of her limbs, but widespread and profound muscle tenderness of the common extensors of the forearms, biceps, trapezius, calves and thighs. She was treated symptomatically with analgesic medication and continued on carbimazole. A month later she was euthyroid and her myalgia had resolved. Hyperthyroidism has a profound effect on skeletal muscle and often leads to myopathy. Severe myalgia in association with Graves' disease is rare and resolves with the restoration of euthyroidism.

  13. An Unusual Presenting Symptom of Graves’ Disease: Myalgia

    Science.gov (United States)

    Papanikolaou, N.; Perros, P.

    2013-01-01

    A 50-year-old female patient presented with severe myalgia involving her proximal muscles for 3–4 weeks. She also reported mild thyrotoxic symptoms over the same time period. Examination revealed mild thyrotoxicosis, a moderate diffuse goiter and no eye signs. The clinical picture was dominated by muscle pain and tenderness involving mainly her proximal arms and legs, her calves and her fingers, requiring opiate analgesia. Muscle power and tendon reflexes were normal. Laboratory evaluation revealed undetectable serum thyroid stimulating hormone (TSH) with raised FT4, FT3 and positive TSH receptor antibodies. Treatment with carbimazole was started. Additional laboratory investigations were negative (inflammatory markers, creatine kinase and antibodies to antinuclear antibodies, gastric parietal cell, smooth muscle, mitochondrial, dsDNA, centromere, extractable nuclear antigen (ENA) ribonucleoprotein, ENA Sm, ENA Ro, ENA Anti-La, ENA Scl70, ENA Jo-1, anti-CCP and rheumatoid factor). Further assessment in the rheumatology clinic confirmed there was no small joint tenderness or loss of range of movement of her limbs, but widespread and profound muscle tenderness of the common extensors of the forearms, biceps, trapezius, calves and thighs. She was treated symptomatically with analgesic medication and continued on carbimazole. A month later she was euthyroid and her myalgia had resolved. Hyperthyroidism has a profound effect on skeletal muscle and often leads to myopathy. Severe myalgia in association with Graves’ disease is rare and resolves with the restoration of euthyroidism. PMID:24783030

  14. A rare presentation of stroke in young age ( moyamoya disease

    Directory of Open Access Journals (Sweden)

    Amal F Radwan

    2013-01-01

    Full Text Available A 37-year-old hypertensive housewife presented with a sudden onset of left-sided hemiplegia, hemianaesthesia, dysarthria and urinary incontinence. The condition was preceded by recurrent attacks of motor neurological deficits over a 3-year duration. She reported a history of a fall from a height at the age of 10, which was followed by a hearing deficit and a history of two caesarean sections after eclampsia. The blood pressure was 170/100 mmHg. Laboratory investigations revealed hyperglycaemia (fasting glucose 306 mg/dl and normal kidney function tests. The computed tomography scans revealed old multiple bilateral cerebral infarcts with recent intracranial haemorrhage in the right parietal region. The inflammatory markers (ESR and CRP and immune profile (ANA, anti-ds DNA and ANCA were found to be normal. Cerebral angiography revealed a complete occlusion of the intracranial parts of both internal carotid arteries at their supraclinoid segments along with the proximal parts of the anterior cerebral artery and middle cerebral artery, with collaterals from the posterior circulation. Consequently, the diagnosis of moyamoya disease with the collaterals was confirmed. Antihypertensive medications and insulin were administered. Cerebral dehydration measures were undertaken with partial improvement. A superficial temporal artery-middle cerebral artery bypass operation was performed with some postoperative improvement. One month later, she suffered a new stroke with severe impairment of the level of consciousness; the computed tomography scans revealed a large recent cerebral infarct, her condition deteriorated rapidly and she died shortly thereafter.

  15. The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis Patients.

    Science.gov (United States)

    Schieffer, Kathleen M; Sabey, Kate; Wright, Justin R; Toole, David R; Drucker, Rebecca; Tokarev, Vasily; Harris, Leonard R; Deiling, Sue; Eshelman, Melanie A; Hegarty, John P; Yochum, Gregory S; Koltun, Walter A; Lamendella, Regina; Stewart, David B

    2017-08-16

    Diverticular disease is commonly associated with the older population in the United States. As individual's age, diverticulae, or herniation of the mucosa through the colonic wall, develop. In 10-25% of individuals, the diverticulae become inflamed, resulting in diverticulitis. The gut ecosystem relies on the interaction of bacteria and fungi to maintain homeostasis. Although bacterial dysbiosis has been implicated in the pathogenesis of diverticulitis, associations between the microbial ecosystem and diverticulitis remain largely unstudied. This study investigated how the cooperative network of bacteria and fungi differ between a diseased area of the sigmoid colon chronically affected by diverticulitis and adjacent non-affected tissue. To identify mucosa-associated microbes, bacterial 16S rRNA and fungal ITS sequencing were performed on chronically diseased sigmoid colon tissue (DT) and adjacent tissue (AT) from the same colonic segment. We found that Pseudomonas and Basidiomycota OTUs were associated with AT while Microbacteriaceae and Ascomycota were enriched in DT. Bipartite co-occurrence networks were constructed for each tissue type. The DT and AT networks were distinct for each tissue type, with no microbial relationships maintained after intersection merge of the groups. Our findings indicate that the microbial ecosystem distinguishes chronically diseased tissue from adjacent tissue.

  16. Distribution of mediastinal ectopic thymic tissue in patients without thymic disease

    Directory of Open Access Journals (Sweden)

    Behnam Sanei

    2015-01-01

    Conclusion: Because of high incidence of ectopic thymic tissue in mediastinum in patients without thymic disease, we recommend wide excision of thymus gland and all of adipose tissue in patients with myasthenia gravis.

  17. Celiac Disease Genetics : Past, Present and Future Challenges

    NARCIS (Netherlands)

    Wijmenga, Cisca; Gutierrez Achury, Javier

    In the past few years there has been enormous progress in unraveling the genetic basis of celiac disease (CD). Apart from the well-known association to HLA, there are currently 40 genomic loci associated to CD. Most of these loci show pleiotropic effects across many autoimmune diseases and highlight

  18. Epilepsy: unusual presentation of cerebral hydatid disease in children

    African Journals Online (AJOL)

    Cerebral hydatid disease is very rare, representing only 2% of all cerebral space occupying lesions even in the countries where the disease is endemic. Intracranial hydatid cysts are more common in children and occur more frequently in the supratentorial space. The aim of this paper is to describe the characteristic features ...

  19. The spectrum of renal diseases in HIV infected adults presenting ...

    African Journals Online (AJOL)

    The natural history of the renal diseases associated with HIV infection has been radically changed by antiretroviral therapy. There are other diseases, ... Patients had advanced HIV infection with mean CD4 count of197 cells/mm3. Majority of patients ( 64.5%) were not yet been initiated cART. 16% of the study patients were ...

  20. Crohn's disease presenting as a recurrent perianal fistula: A case ...

    African Journals Online (AJOL)

    Crohn's disease (CD) is a multifactorial polygenic disease characterized by chronic inflammation of the gastrointestinal tract (GIT), often complicated by the development of intestinal strictures and/or formation of fistulas. Several diagnostic criteria have been proposed, usually relying on clinical, endoscopic, radiological or ...

  1. Characterizing tissue stiffness at the tip of a rigid needle using an opto-mechanical force sensor (Conference Presentation)

    Science.gov (United States)

    Beekmans, Steven V.; Iannuzzi, Davide; van den Dobbelsteen, John J.

    2016-03-01

    Each year, in the Netherlands alone, more than 50.000 percutaneous procedures are performed for treatment or for removal of tissue from possibly diseased organs, of which 30% return non-diagnostic due to erroneous needle targeting, often as a result of non-homogeneity of the penetrated tissue. In this study, we aim to facilitate needle targeting by assessing the tissue in front of the needle based on its mechanical properties. A probe that can identify tissues via real-time measurements of their mechanical properties is placed at the tip of the needle. The probe, actuated by a remote system at the distal part of the needle, employs the bending of a micro-machined cantilever fabricated on top of an optical fiber. The displacement of the cantilever, imposed by pressing a micro-bead (r = 75 µm) glued at the tip of the cantilever against the tissue, is interrogated by Fabry-Pérot interferometry and converted to force acted on the tissue in real-time. The force transducer is able to perform in harsh environments due to its monolithic design and all-optical working principle. Using our setup, load-indentation curves were obtained during needle insertion in several gelatin-based specimens. We demonstrate the ability of our device to detect and quantify layers of varying stiffness and to successfully locate tissue boundaries in animal tissue embedded in gelatin. Furthermore, a diagnostic measurement can be made by quantifying intra-organ tissue stiffness at the needle target location.

  2. Carpal spasm in a girl as initial presentation of celiac disease: a case report.

    Science.gov (United States)

    Ramosaj-Morina, Atifete; Keka-Sylaj, A; Hasbahta, V; Baloku-Zejnullahu, A; Azemi, M; Zunec, R

    2017-09-04

    Celiac disease is an immune-mediated disorder elicited by ingestion of gluten in genetically susceptible persons. This disorder is characterized by specific histological changes of the small intestine mucosa resulting in malabsorption. This case was written up as it was an unusual and dramatic presentation of celiac disease. We report the case of a 3-year-old Albanian girl who presented at our clinic with carpal spasms and hand paresthesia. A physical examination at admission revealed a relatively good general condition and body weight of 10.5 kg (10 percentile). Carpal spasms and paresthesias of her extremities were present. Neuromuscular irritability was demonstrated by positive Chvostek and Trousseau signs. Blood tests showed severe hypocalcemia with a total serum calcium of 1.2 mmol/L (normal range 2.12 to 2.55 mmol/L), ionized calcium of 0.87 (normal range 1.11 to 1.30 mmol/L), and 24-hour urine calcium excretion of 9.16 mmol (normal range female celiac disease was performed: antigliadin immunoglobulin A, anti-tissue transglutaminase, and anti-endomysial immunoglobulin A antibodies were positive. A duodenal biopsy revealed lymphocyte infiltration, crypt hyperplasia, and villous atrophy compatible with celiac disease grade IIIb according to the Marsh classification. Following the diagnosis of celiac disease, human leukocyte antigen typing was performed, giving a definite diagnosis of celiac disease. She was started on a gluten-free diet. Due to failure to follow a gluten-free diet, episodes of carpal spasms appeared again. Unfortunately, at the age of 7 years she presents with delayed psychophysical development. Although hypocalcemia is a common finding in celiac disease, hypocalcemic carpal spasm is a rare initial manifestation of the disease. Therefore, the possibility of celiac disease should be considered in patients with repeated carpal spasms that seem unduly difficult to treat. This should be evaluated even in the absence of gastrointestinal

  3. Wnt ligand presentation and reception: from the stem cell niche to tissue engineering.

    Science.gov (United States)

    Mills, Kate M; Szczerkowski, James L A; Habib, Shukry J

    2017-08-01

    Stem cells reside in niches where spatially restricted signals maintain a delicate balance between stem cell self-renewal and differentiation. Wnt family proteins are particularly suited for this role as they are modified by lipids, which constrain and spatially regulate their signalling range. In recent years, Wnt/β-catenin signalling has been shown to be essential for the self-renewal of a variety of mammalian stem cells. In this review, we discuss Wnt-responsive stem cells in their niche, and mechanisms by which Wnt ligands are presented to responsive cells. We also highlight recent progress in molecular visualization that has allowed for the monitoring of Wnt signalling within the stem cell compartment and new approaches to recapitulate this niche signalling in vitro Indeed, new technologies that present Wnt in a localized manner and mimic the three-dimensional microenvironment of stem cells will advance our understanding of Wnt signalling in the stem cell niche. These advances will expand current horizons to exploit Wnt ligands in the rapidly evolving fields of tissue engineering and regenerative medicine. © 2017 The Authors.

  4. Foot-and-mouth disease: past, present and future

    DEFF Research Database (Denmark)

    Jamal, Syed Muhammad; Belsham, Graham

    2013-01-01

    ABSTRACT: Foot-and-mouth disease (FMD) is a highly contagious disease of cloven-hoofed animals including cattle, pigs, sheep and many wildlife species. It can cause enormous economic losses when incursions occur into countries which are normally disease free. In addition, it has long-term effects...... identified. Some serotypes have a restricted geographical distribution, e.g. Asia-1, whereas others, notably serotype O, occur in many different regions. There is no cross-protection between serotypes and sometimes protection conferred by vaccines even of the same serotype can be limited. Thus...

  5. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

    Directory of Open Access Journals (Sweden)

    Hanae Takatsuki, PhD

    2016-10-01

    Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

  6. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

    Science.gov (United States)

    Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

    2016-10-01

    Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  7. UNUSUAL EUGLYCEMIC PRESENTATION OF GLYCOGEN STORAGE DISEASE TYPE 1B

    Directory of Open Access Journals (Sweden)

    Shivaprakash Sosale

    2015-06-01

    Full Text Available Glycogen storage diseases are infrequently reported metabolic disorder. Diagnosis and treatment of these conditions is a challenge to the clinician given its complexity and life threatening consequences

  8. Crystalline Ultrastructures, Inflammatory Elements, and Neoangiogenesis Are Present in Inconspicuous Aortic Valve Tissue

    Directory of Open Access Journals (Sweden)

    P. Dorfmüller

    2010-01-01

    Full Text Available Morbidity from calcific aortic valve disease (CAVD is increasing. Recent studies suggest early reversible changes involving inflammation and neoangiogenesis. We hypothesized that microcalcifications, chemokines, and growth factors are present in unaffected regions of calcific aortic valves. We studied aortic valves from 4 patients with CAVD and from 1 control, using immunohistochemistry, scanning electron microscopy, and infrared spectrography. We revealed clusters of capillary neovessels in calcified (ECC, to a lesser extent in noncalcified (ECN areas. Endothelial cells proved constant expression of SDF-1 in ECC, ECN, and endothelial cells from valvular surface (ECS. Its receptor CXCR4 was expressed in ECC. IL-6 expression correlated with CXCR4 staining and presence of lymphocytes. VEGF was expressed by ECS, its receptor by ECC and ECN. Crystalline ultrastructures were found on the surface of histologically noncalcified areas (HNCAs, spectrography revealed calcium hydroxylapatite. Our results demonstrate that crystalline ultrastructures are present in HNCAs, undergoing neoangiogenesis in an inflammatory context. These alterations could be an early witness of disease and an opening to therapy.

  9. Volumetric imaging of oral epithelial neoplasia by MPM-SHGM: epithelial connective tissue interface (Conference Presentation)

    Science.gov (United States)

    Pal, Rahul; Yang, Jinping; Qiu, Suimin; Resto, Vicente; McCammon, Susan; Vargas, Gracie

    2016-03-01

    The majority of oral cancers are comprised of oral squamous cell carcinoma in which neoplastic epithelial cells invade across the epithelial connective tissue interface (ECTI). Invasion is preceded by a multi-component process including epithelial hyperproliferation, loss of cell polarity, and remodeling of the extracellular matrix. Multiphoton Autofluorescence Microscopy (MPAM) and Second Harmonic Generation Microscopy (SHGM) show promise for revealing indicators of neoplasia. In particular, volumetric imaging by these methods can reveal aspects of the 3D microstructure that are not possible by other methods and which could both further our understanding of neoplastic transformation and be explored for development of diagnostic approaches in this disease having only 55% 5-year survival rate. MPAM-SHG were applied to reveal the 3D structure of the critical ECTI interface that plays an integral part toward invasion. Epithelial dysplasia was induced in an established hamster model. MPAM-SHGM was applied to lesion sites, using 780 nm excitation (450-600nm emission) for autofluroescence of cellular and extracellular components; 840 nm using 420 nm bandpass filter for SHG. The ECTI surface was identified as the interface at which SHG signal began following the epithelium and was modeled as a 3D surface using Matlab. ECTI surface area and cell features at sites of epithelial expansion where ECTI was altered were measured; Imaged sites were biopsied and processed for histology. ROC analysis using ECTI image metrics indicated the ability to delineate normal from neoplasia with high sensitivity and specificity and it is noteworthy that inflammation did not significantly alter diagnostic potential of MPAM-SHGM .

  10. Diverticular disease: evolving concepts in classification, presentation, and management.

    Science.gov (United States)

    Mosadeghi, Sasan; Bhuket, Taft; Stollman, Neil

    2015-01-01

    Diverticular disease is the most commonly reported finding at the time of colonoscopy and one of the most common gastrointestinal indications for hospitalization. Much of our previous understanding of diverticular disease has recently been challenged. There is emerging evidence that the long-accepted hypothesis of diverticulosis as a consequence of fiber deficiency may be more complex than commonly thought, with recent evidence suggesting that high-fiber diet and frequent bowel movements are associated with a greater and not lower prevalence of diverticular disease. There is also emerging support for the concept of low-grade inflammation in symptomatic uncomplicated diverticular disease (SUDD), and the role of anti-inflammatory treatment with mesalamine is being actively investigated. Additionally, elective 'prophylactic' surgery after diverticulitis, previously considered after a second confirmed diverticulitis episode, is being increasingly deferred. The pathogenesis of diverticular disease is likely multifactorial and complex. More studies are needed to evaluate the role of fiber in the pathogenesis and treatment of diverticular disease. The search for an effective medical therapy for SUDD and to prevent recurrent diverticulitis is being actively investigated. The efficacy of mesalamine does not appear to be strong data supported.

  11. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    Directory of Open Access Journals (Sweden)

    Jérôme Stirnemann

    2017-02-01

    Full Text Available Gaucher disease (GD, ORPHA355 is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions, is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase. Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat.

  12. Development and clinical course of diseases accompanied by connective tissue dysplasia in children of puberty age

    Directory of Open Access Journals (Sweden)

    Elizarova S.Yu.

    2011-03-01

    Full Text Available The risk of development and clinical course of somatic diseases have been analyzed in the research work. 111 adolescents suffering from connective tissue dysplasia have been under the study. It has been stated that the frequency of somatic diseases among adolescents with connective tissue dysplasia is higher than this frequency among adolescents without such disease. Phenotypic signs of connective tissue dysplasia have been revealed. They are responsible for the development of bronchial asthma and severe stomach ulcer

  13. Coeliac disease autoantibodies mediate significant inhibition of tissue transglutaminase.

    LENUS (Irish Health Repository)

    Byrne, Greg

    2012-02-01

    The detection of antibodies directed against tissue transglutaminase (tTG) in serum is a sensitive and specific test for suspected coeliac disease. tTG is a ubiquitous, multifunctional enzyme that has been implicated in many important physiological processes as well as the site-specific deamidation of glutamine residues in gluten-derived peptides. This modification of gluten peptides facilitates their binding to HLA-DQ2, which results in amplification of the T-cell response to gluten. The purpose of this study was to investigate the possibility that patient IgA autoantibodies directed against tTG interfere with the crosslinking activity of the enzyme. IgA autoantibodies against tTG were isolated\\/depleted from patient serum and tested for their capacity to interfere with tTG activity in vitro using a sensitive fluorescence-based activity assay. We have demonstrated that autoantibodies cause significant inhibition of tTG-mediated crosslinking at equimolar and 2:1 ratios of antibody to enzyme.

  14. Diagnostics of parasitic diseases. Myths of the present

    Directory of Open Access Journals (Sweden)

    S. S. Kozlov

    2011-01-01

    Full Text Available Diagnostics of parasitic diseases in many medical laboratories is carried out with a bad quality. Principal causes are the low level of qualification of laboratorians and a small amount of laboratory methods which are used. The majority of practising doctors has bad knowledge about diseases. All this serves as base for occurrence in the market of medical services of various pseudoscientific methods of diagnostics of parasitic diseases, such as Voll-method and its analogues, including a method of bioresonant diagnostics, scanning of the crushed drop of blood, including a dark field method, diagnostics on pulse, detection of toxins of parasites in salivaric crystal amilase and others. These methods cannot be scientific to be the methods of demonstrative medicine often lead to development of parasitic phobias of patients.

  15. Isolated short stature as a presentation of celiac disease in Saudi children

    Directory of Open Access Journals (Sweden)

    Asaad Mohamed Assiri

    2010-06-01

    Full Text Available The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine labora-tory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical assessments, including total protein, serum albumin, calcium phosphate and alkaline phosphatase assays; renal function tests; coagulation profile; anti-endomysial antibodies and anti-tissue transglutaminase antibody, growth hormone, thyroid stimulating hormone, free-thyroxin (FT4 assays; stool tests for giardiasis; bone age; and endoscopic intestinal biopsies, were done for all children. Ten of the 91 children had positive intestinal biopsies in the form of total villous atrophy, an increase in crypt height, and an increase in intra-epithelial lymphocyte (IEL numbers up to >40 IEL/100 EC (Type 3C according to the Oberhuber classification, confirming the diagnosis of celiac disease. Five children had mild villous atrophy according to this classification (Type 3A, and they were considered to have potential celiac disease. Seventy-six children had normal intestinal biopsies. Therefore, the prevalence of celiac disease among Saudi children with short stature was 10.9%, and 4.3% of the children were diagnosed as having potential celiac disease. After confirming the diagnosis of celiac disease, all children were kept on a gluten-free diet and all of them showed improvement in their growth rate. We concluded that celiac disease is a very important cause of short stature in children without gastrointestinal complaints in Saudi Arabia. We highly recommend anti-tissue transglutaminase and anti-endomysial antibody screening tests, and a small bowel biopsy to confirm the diagnosis of celiac disease irrespective of the results of the antibody assays, in children with

  16. Age and Spatial Peculiarities of Non-neoplastic Diseases of the Skin and Subcutaneous Tissue in Kazakhstan, 2003–2015

    OpenAIRE

    IGISSINOV, Nurbek; KULMIRZAYEVA, Dariyana; BILYALOVA, Zarina; AKPOLATOVA, Gulnur; MAMYRBAYEVA, Marzya; ZHUMAGALIYEVA, Galina

    2017-01-01

    Background: Arrangement of effective management aimed at improving dermatological services and consistent care of patients with skin diseases depends on understanding the epidemiological situation. Methods: This retrospective study presents an epidemiological assessment of non-neoplastic skin and subcutaneous tissue diseases in Kazakhstan registered in 2003–2015. Results: The yearly incidence rate of the diseases among the whole population was in average 3,341.8±121.1 per 100000 population. T...

  17. Visualization and tissue classification of human breast cancer images using ultrahigh-resolution OCT (Conference Presentation)

    Science.gov (United States)

    Yao, Xinwen; Gan, Yu; Chang, Ernest W.; Hibshoosh, Hanina; Feldman, Sheldon; Hendon, Christine P.

    2017-02-01

    We employed a home-built ultrahigh resolution (UHR) OCT system at 800nm to image human breast cancer sample ex vivo. The system has an axial resolution of 2.72µm and a lateral resolution of 5.52µm with an extended imaging range of 1.78mm. Over 900 UHR OCT volumes were generated on specimens from 23 breast cancer cases. With better spatial resolution, detailed structures in the breast tissue were better defined. Different types of breast cancer as well as healthy breast tissue can be well delineated from the UHR OCT images. To quantitatively evaluate the advantages of UHR OCT imaging of breast cancer, features derived from OCT intensity images were used as inputs to a machine learning model, the relevance vector machine. A trained machine learning model was employed to evaluate the performance of tissue classification based on UHR OCT images for differentiating tissue types in the breast samples, including adipose tissue, healthy stroma and cancerous region. For adipose tissue, grid-based local features were extracted from OCT intensity data, including standard deviation, entropy, and homogeneity. We showed that it was possible to enhance the classification performance on distinguishing fat tissue from non-fat tissue by using the UHR images when compared with the results based on OCT images from a commercial 1300 nm OCT system. For invasive ductal carcinoma (IDC) and normal stroma differentiation, the classification was based on frame-based features that portray signal penetration depth and tissue reflectivity. The confusing matrix indicated a sensitivity of 97.5% and a sensitivity of 77.8%.

  18. The Present Day Problems of Infections Diseases with Children

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2009-01-01

    Full Text Available Thearticlereviewsthemajorup-to-dateproblemsconcerning certain aspect of infections diseases treatment in children. Droplet infections, acute gastrointestinal infections, neuroinfections, viral herpes infections and viral hepatitis in children are fully characterized and described in detail. In addition, we give an outline of the ways and attitudes enabling to reduce the incidence and improve the outcomes.

  19. Investigations on pests, diseases and present early warning system ...

    African Journals Online (AJOL)

    USER

    2010-02-08

    Feb 8, 2010 ... were brought to the laboratory for identification. Plant samples showing virus and virus like symptoms were separately put in polyethylene bags, brought to the laboratory in ice boxes and kept at - 20°C. Identification of the pests and disease agents. Samples of plants seemed to be damaged were examined ...

  20. [Horseshoe kidney, stone disease and prostate cancer: a case presentation].

    Science.gov (United States)

    Hermida Pérez, J A; Bermejo Hernández, A; Hernández Guerra, J S; Sobenes Gutierrez, R J

    2013-01-01

    The horseshoe kidney is the most common congenital renal fusion anomalies. It occurs in 0.25% of the population, or 1 in every 400 people. It is more frequent in males (ratio 2:1). The most observed complication of horseshoe kidney is stone disease, although there may be others such as, abdominal pain, urinary infections, haematuria, hydronephrosis, trauma and tumours (most commonly associated with hypernephroma and Wilms tumour). We describe a case of a male patient with horseshoe kidney, stone disease and adenocarcinoma of the prostate. One carrier of this condition who suffered a transitional cell carcinoma of the prostate was found in a review of the literature. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  1. Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus

    Directory of Open Access Journals (Sweden)

    Kaushik Ghosh

    2012-01-01

    Full Text Available We report of an 18-year-old male who presented with an epileptiform disorder, features of hypocalcemia, and an extrapyramidal symptom in the form of choreoathetosis. On evaluation he had idiopathic hypoparathyroidism with extensive calcifications in the extrapyramidal system of the brain; basal ganglion, as well as in the cerebral cortex and cerebellum, which is a rare entity. We report the rare presentation of a common disorder, which requires to be considered in evaluating hypoparathyroidism.

  2. [An atypical presentation of Infantile Alexander disease lacking macrocephaly].

    Science.gov (United States)

    Esmer, Carmen; Villegas-Aguilera, Miguel; Morales-Ibarra, Juan José; Bravo-Oro, Antonio

    Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G>A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis. Copyright © 2016 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  3. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  4. ON SYSTEMATIZING OF THE EXTRA-ARTICULAR SOFT TISSUE DISEASES

    Directory of Open Access Journals (Sweden)

    A. B. Zborovskiy

    2002-01-01

    Full Text Available The key questions of medical and social importance of soft tissue rheumatism, including their prevalence, the problems of their nomenclature, classification and unification of diagnostics as well are considered, the new versions of classification of soft tissue rheumatism and diagnostic criteria of primary fibromyalgia syndrome are olTered.

  5. Metallothionein expression in placental tissue in Menkes' disease

    DEFF Research Database (Denmark)

    Hærslev, T.; Krag Jacobsen, G.; Horn, N.

    1995-01-01

    . The avidin-biotin-complex (ABC)-technique was used. The copper content was measured by neutron activation analysis (NAA). In all placental tissue sections positive MT immunostaining appeared only in the trophoblast and only in proliferating cells. In placental tissue sections obtained from foetuses...

  6. Automated adipose study for assessing cancerous human breast tissue using optical coherence tomography (Conference Presentation)

    Science.gov (United States)

    Gan, Yu; Yao, Xinwen; Chang, Ernest W.; Bin Amir, Syed A.; Hibshoosh, Hanina; Feldman, Sheldon; Hendon, Christine P.

    2017-02-01

    Breast cancer is the third leading cause of death in women in the United States. In human breast tissue, adipose cells are infiltrated or replaced by cancer cells during the development of breast tumor. Therefore, an adipose map can be an indicator of identifying cancerous region. We developed an automated classification method to generate adipose map within human breast. To facilitate the automated classification, we first mask the B-scans from OCT volumes by comparing the signal noise ratio with a threshold. Then, the image was divided into multiple blocks with a size of 30 pixels by 30 pixels. In each block, we extracted texture features such as local standard deviation, entropy, homogeneity, and coarseness. The features of each block were input to a probabilistic model, relevance vector machine (RVM), which was trained prior to the experiment, to classify tissue types. For each block within the B-scan, RVM identified the region with adipose tissue. We calculated the adipose ratio as the number of blocks identified as adipose over the total number of blocks within the B-scan. We obtained OCT images from patients (n = 19) in Columbia medical center. We automatically generated the adipose maps from 24 B-scans including normal samples (n = 16) and cancerous samples (n = 8). We found the adipose regions show an isolated pattern that in cancerous tissue while a clustered pattern in normal tissue. Moreover, the adipose ratio (52.30 ± 29.42%) in normal tissue was higher than the that in cancerous tissue (12.41 ± 10.07%).

  7. Late onset vanishing white matter disease presenting with learning difficulties

    NARCIS (Netherlands)

    Damásio, Joana; van der Lei, Hannemieke D. W.; van der Knaap, Marjo S.; Santos, Ernestina

    2012-01-01

    Vanishing white matter is an inherited leukoencephalopathy with typical childhood onset. Late onset forms are rare and may present with an extended range of phenotypes. Case report We present a patient born to consanguineous parents who developed learning disabilities by the age of 16 years. At the

  8. [McArdle disease presenting with rhabdomyolisis and acute kidney injury].

    Science.gov (United States)

    Costa, Rui; Castro, Rui; Costa, Alexandre; Taipa, Ricardo; Vizcaíno, Ramon; Morgado, Teresa

    2013-01-01

    McArdle disease typically presents in childhood or young adults with myalgia, exercise intolerance, cramps and myoglobinuria. Deficiency of myophosphorylase enzyme results in inability to degrade glycogen stores, causing glycogen accumulation in muscle tissue and energy deficit. Evolution with rhabdomiolysis may occur and can be complicated with acute kidney injury but rarely, in about 11% of cases, is the initial disease manifestation. We report a case of McArdle Disease in a 38-year-old male patient. The disease went unrecognized despite previous symptoms (myalgia, exercise intolerance and single myoglobinuria episode) until an episode of rhabdomyolisis complicated with oliguric acute kidney injury requiring hemodialysis. The kidney biopsy showed evidence of acute tubular necrosis. Despite normalization of renal function, muscle lysis markers remained abnormal. Metabolic myopathy was suspected and a muscle biopsy was performed. It showed subsarcolemic glycogen deposition and absence of myophosphorylase activity. This case-report underlines the importance of considering metabolic myopathy in patients with acute kidney injury and severe rhabdomyolisis.

  9. Ebola virus disease - pathogenesis, clinical presentation and management.

    Science.gov (United States)

    Bociaga-Jasik, Monika; Piatek, Anna; Garlicki, Aleksander

    2014-01-01

    On March 2014 the WHO notified the outbreak of Ebola virus disease (EVD) in Guinea, and infection quickly spread to another West African countries including Sierra Leone, Liberia and Nigeria. Current outbreak is the largest in the history, since discovery of the virus in 1976. Imported cases and infection among healthcare workers in Europe and United States have elucidated necessity of better education of medical staff. Clinicians must be familiar with clinical picture of EVD, differential diagnosis and therapeutic approach, as rapid diagnosis and prompt introduction of supportive therapy can have a significant impact on the survival.

  10. Masticator Space Foreign Body in a Child Presenting With Otorrhea and Granulation Tissue of the External Auditory Canal.

    Science.gov (United States)

    Tawfik, Kareem O; Edwards, Colin R; Jones, Blaise V; Myer, Charles M

    2016-10-01

    We report an unusual case of masticator space foreign body in a patient presenting with otorrhea and granulation tissue within the external auditory canal (EAC). Case report. A 16-month-old male presented with fever, unilateral otorrhea, facial swelling, leukocytosis, and granulation tissue within the EAC that failed to respond to conventional medical treatment. Computed tomography scan showed EAC and middle ear opacification and soft tissue swelling involving the masticator space. Given concerns for malignancy, biopsies of tissue within the EAC and of a newly detected right buccal mass were performed, revealing granulation tissue. Concern persisted for neoplasm, however, and magnetic resonance imaging was obtained, showing a masticator space foreign body and possible osteomyelitis of the mandible and pterygoid plates. The patient underwent urgent operative removal of a 3 cm crayon fragment from the masticator space and debridement of granulation tissue arising from a small defect at the inferior medial cartilaginous EAC. He likely sustained foreign body injury several weeks earlier upon falling from standing height while biting a crayon. Postoperatively, he was observed in hospital on intravenous antibiotics and improved significantly. He has since fully recovered. Masticator space foreign bodies may present with erosion and granulation tissue of the EAC. © The Author(s) 2016.

  11. Diagnosis of Ebola Virus Disease: Past, Present, and Future

    Science.gov (United States)

    Brooks, Tim J. G.

    2016-01-01

    SUMMARY Laboratory diagnosis of Ebola virus disease plays a critical role in outbreak response efforts; however, establishing safe and expeditious testing strategies for this high-biosafety-level pathogen in resource-poor environments remains extremely challenging. Since the discovery of Ebola virus in 1976 via traditional viral culture techniques and electron microscopy, diagnostic methodologies have trended toward faster, more accurate molecular assays. Importantly, technological advances have been paired with increasing efforts to support decentralized diagnostic testing capacity that can be deployed at or near the point of patient care. The unprecedented scope of the 2014-2015 West Africa Ebola epidemic spurred tremendous innovation in this arena, and a variety of new diagnostic platforms that have the potential both to immediately improve ongoing surveillance efforts in West Africa and to transform future outbreak responses have reached the field. In this review, we describe the evolution of Ebola virus disease diagnostic testing and efforts to deploy field diagnostic laboratories in prior outbreaks. We then explore the diagnostic challenges pervading the 2014-2015 epidemic and provide a comprehensive examination of novel diagnostic tests that are likely to address some of these challenges moving forward. PMID:27413095

  12. HIV DNA Is Frequently Present within Pathologic Tissues Evaluated at Autopsy from Combined Antiretroviral Therapy-Treated Patients with Undetectable Viral Loads.

    Science.gov (United States)

    Lamers, Susanna L; Rose, Rebecca; Maidji, Ekaterina; Agsalda-Garcia, Melissa; Nolan, David J; Fogel, Gary B; Salemi, Marco; Garcia, Debra L; Bracci, Paige; Yong, William; Commins, Deborah; Said, Jonathan; Khanlou, Negar; Hinkin, Charles H; Sueiras, Miguel Valdes; Mathisen, Glenn; Donovan, Suzanne; Shiramizu, Bruce; Stoddart, Cheryl A; McGrath, Michael S; Singer, Elyse J

    2016-10-15

    HIV infection treatment strategies have historically defined effectiveness through measuring patient plasma HIV RNA. While combined antiretroviral therapy (cART) can reduce plasma viral load (pVL) to undetectable levels, the degree that HIV is eliminated from other anatomical sites remains unclear. We investigated the HIV DNA levels in 229 varied autopsy tissues from 20 HIV-positive (HIV(+)) cART-treated study participants with low or undetectable plasma VL and cerebrospinal fluid (CSF) VL prior to death who were enrolled in the National Neurological AIDS Bank (NNAB) longitudinal study and autopsy cohort. Extensive medical histories were obtained for each participant. Autopsy specimens, including at least six brain and nonbrain tissues per participant, were reviewed by study pathologists. HIV DNA, measured in tissues by quantitative and droplet digital PCR, was identified in 48/87 brain tissues and 82/142 nonbrain tissues at levels >200 HIV copies/million cell equivalents. No participant was found to be completely free of tissue HIV. Parallel sequencing studies from some tissues recovered intact HIV DNA and RNA. Abnormal histological findings were identified in all participants, especially in brain, spleen, lung, lymph node, liver, aorta, and kidney. All brain tissues demonstrated some degree of pathology. Ninety-five percent of participants had some degree of atherosclerosis, and 75% of participants died with cancer. This study assists in characterizing the anatomical locations of HIV, in particular, macrophage-rich tissues, such as the central nervous system (CNS) and testis. Additional studies are needed to determine if the HIV recovered from tissues promotes the pathogenesis of inflammatory diseases, such as HIV-associated neurocognitive disorders, cancer, and atherosclerosis. It is well-known that combined antiretroviral therapy (cART) can reduce plasma HIV to undetectable levels; however, cART cannot completely clear HIV infection. An ongoing question is

  13. Modified chitosan hydrogels as drug delivery and tissue engineering systems: present status and applications

    Directory of Open Access Journals (Sweden)

    Tapan Kumar Giri

    2012-10-01

    Full Text Available Chitosan, a natural cationic polysaccharide, is prepared industrially by the hydrolysis of the aminoacetyl groups of chitin, a naturally available marine polymer. Chitosan is a non-toxic, biocompatible and biodegradable polymer and has attracted considerable interest in a wide range of biomedical and pharmaceutical applications including drug delivery, cosmetics, and tissue engineering. The primary hydroxyl and amine groups located on the backbone of chitosan are responsible for the reactivity of the polymer and also act as sites for chemical modification. However, chitosan has certain limitations for use in controlled drug delivery and tissue engineering. These limitations can be overcome by chemical modification. Thus, modified chitosan hydrogels have gained importance in current research on drug delivery and tissue engineering systems. This paper reviews the general properties of chitosan, various methods of modification, and applications of modified chitosan hydrogels.

  14. Evaluation of Human Adipose Tissue Stromal Heterogeneity in Metabolic Disease Using Single Cell RNA-Seq

    Science.gov (United States)

    2017-09-01

    individual cell types within human adipose tissue interact to regulate adipose tissue physiology . Specifically, we have developed the molecular and...AWARD NUMBER: W81XWH-15-1-0251 TITLE: “Evaluation of Human Adipose Tissue Stromal Heterogeneity in Metabolic Disease Using Single Cell RNA...TYPE Annual 3. DATES COVERED 1 AUG 2016 - 31 Aug 2017 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Evaluation of Human Adipose Tissue Stromal

  15. Small Vessel Cerebrovascular Disease: The Past, Present, and Future

    Directory of Open Access Journals (Sweden)

    Réza Behrouz

    2012-01-01

    Full Text Available Brain infarction due to small vessel cerebrovascular disease (SVCD—also known as small vessel infarct (SVI or “lacunar” stroke—accounts for 20% to 25% of all ischemic strokes. Historically, SVIs have been associated with a favorable short-term prognosis. However, studies over the years have demonstrated that SVCD/SVI is perhaps a more complex and less benign phenomenon than generally presumed. The currently employed diagnostic and therapeutic strategies are based upon historical and contemporary perceptions of SVCD/SVI. What is discovered in the future will unmask the true countenance of SVCD/SVI and help furnish more accurate prognostication schemes and effective treatments for this condition. This paper is an overview of SVCD/SVI with respect to the discoveries of the past, what is known now, and what will the ongoing investigations evince in the future.

  16. Small Vessel Cerebrovascular Disease: The Past, Present, and Future

    Science.gov (United States)

    Behrouz, Réza; Malek, Ali R.; Torbey, Michel T.

    2012-01-01

    Brain infarction due to small vessel cerebrovascular disease (SVCD)—also known as small vessel infarct (SVI) or “lacunar” stroke—accounts for 20% to 25% of all ischemic strokes. Historically, SVIs have been associated with a favorable short-term prognosis. However, studies over the years have demonstrated that SVCD/SVI is perhaps a more complex and less benign phenomenon than generally presumed. The currently employed diagnostic and therapeutic strategies are based upon historical and contemporary perceptions of SVCD/SVI. What is discovered in the future will unmask the true countenance of SVCD/SVI and help furnish more accurate prognostication schemes and effective treatments for this condition. This paper is an overview of SVCD/SVI with respect to the discoveries of the past, what is known now, and what will the ongoing investigations evince in the future. PMID:22315706

  17. Applications of condensed matter understanding to medical tissues and disease progression: Elemental analysis and structural integrity of tissue scaffolds

    Energy Technology Data Exchange (ETDEWEB)

    Bradley, D.A., E-mail: d.a.bradley@surrey.ac.u [Centre for Nuclear and Radiation Physics, Department of Physics, University of Surrey, Guildford GU2 7XH (United Kingdom); Farquharson, M.J. [Department of Radiography, School of Community and Health Sciences, City University, London (United Kingdom); Gundogdu, O. [Centre for Nuclear and Radiation Physics, Department of Physics, University of Surrey, Guildford GU2 7XH (United Kingdom); Al-Ebraheem, Alia [Department of Radiography, School of Community and Health Sciences, City University, London (United Kingdom); Che Ismail, Elna [Centre for Nuclear and Radiation Physics, Department of Physics, University of Surrey, Guildford GU2 7XH (United Kingdom); Kaabar, W., E-mail: w.kaabar@surrey.ac.u [Centre for Nuclear and Radiation Physics, Department of Physics, University of Surrey, Guildford GU2 7XH (United Kingdom); Bunk, O. [Paul Scherrer Institute, CH-5232 Villigen (Switzerland); Pfeiffer, F. [Paul Scherrer Institute, CH-5232 Villigen (Switzerland); Ecole Polytechnique Federale de Lausanne, CH-1015 Lausanne (Switzerland); Falkenberg, G. [Hamburger Synchrotronstrahlungslabor HASYLAB at Deutsches Elektronensynchrotron DESY, Notkestr. 85, D-22603 Hamburg (Germany); Bailey, M. [Surrey Ion Beam Centre, Advanced Technology Institute, University of Surrey, Guildford GU2 7XH (United Kingdom)

    2010-02-15

    The investigations reported herein link tissue structure and elemental presence with issues of environmental health and disease, exemplified by uptake and storage of potentially toxic elements in the body, the osteoarthritic condition and malignancy in the breast and other soft tissues. Focus is placed on application of state-of-the-art ionizing radiation techniques, including, micro-synchrotron X-ray fluorescence (mu-SXRF) and particle-induced X-ray emission/Rutherford backscattering mapping (mu-PIXE/RBS), coherent small-angle X-ray scattering (cSAXS) and X-ray phase-contrast imaging, providing information on elemental make-up, the large-scale organisation of collagen and anatomical features of moderate and low atomic number media. For the particular situations under investigation, use of such facilities is allowing information to be obtained at an unprecedented level of detail, yielding new understanding of the affected tissues and the progression of disease.

  18. Increased brain tissue sodium concentration in Huntington's Disease - a sodium imaging study at 4 T.

    Science.gov (United States)

    Reetz, Kathrin; Romanzetti, Sandro; Dogan, Imis; Saß, Christian; Werner, Cornelius J; Schiefer, Johannes; Schulz, Jörg B; Shah, N Jon

    2012-10-15

    cortex compared to controls. No change of total sodium concentration was observed in the amygdala, pre- and postcentral gyrus, frontal and temporal cortices or in the cerebellum. This is the first in vivo sodium MR imaging study carried out on a 4 T MR scanner in Huntington's disease gene carriers demonstrating a significant enhancement in sodium concentration in the bilateral striatum, a key region in Huntington's disease, and also in other disease-related atrophic areas. Sodium MR imaging may provide a deeper insight into the pathophysiological mechanisms of tissue degeneration in Huntington's disease, presenting potential to detect changes preceding neurodegeneration. Copyright © 2012 Elsevier Inc. All rights reserved.

  19. Clinical presentation of patients with adult onset still's disease in ...

    African Journals Online (AJOL)

    ... This case series set out to describe the clinical characteristics of patients with ASD seen at a rheumatology clinic in Nairobi. Results: After a record search, 8 patients were noted to have ASD. Fever and arthritis were noted to be most predominant presenting features with almost all the patients having hyperferritinemia.

  20. Clinical Presentation of Soft‑tissue Infections and its Management: A ...

    African Journals Online (AJOL)

    2018-03-05

    Mar 5, 2018 ... Necrotizing fasciitis. Surg Gynecol. Obstet 1985;161:357‑61. 8. Chelsom J, Halstensen A, Haga T, Høiby EA. Necrotising fasciitis due to group A streptococci in Western Norway: Incidence and clinical features. Lancet 1994;344:1111‑5. 9. Torralba KD, Quismorio FP Jr. Soft tissue infections. Rheum Dis.

  1. Slide-free histology via MUSE: UV surface excitation microscopy for imaging unsectioned tissue (Conference Presentation)

    Science.gov (United States)

    Levenson, Richard M.; Harmany, Zachary; Demos, Stavros G.; Fereidouni, Farzad

    2016-03-01

    Widely used methods for preparing and viewing tissue specimens at microscopic resolution have not changed for over a century. They provide high-quality images but can involve time-frames of hours or even weeks, depending on logistics. There is increasing interest in slide-free methods for rapid tissue analysis that can both decrease turn-around times and reduce costs. One new approach is MUSE (microscopy with UV surface excitation), which exploits the shallow penetration of UV light to excite fluorescent signals from only the most superficial tissue elements. The method is non-destructive, and eliminates requirement for conventional histology processing, formalin fixation, paraffin embedding, or thin sectioning. It requires no lasers, confocal, multiphoton or optical coherence tomography optics. MUSE generates diagnostic-quality histological images that can be rendered to resemble conventional hematoxylin- and eosin-stained samples, with enhanced topographical information, from fresh or fixed, but unsectioned tissue, rapidly, with high resolution, simply and inexpensively. We anticipate that there could be widespread adoption in research facilities, hospital-based and stand-alone clinical settings, in local or regional pathology labs, as well as in low-resource environments.

  2. [Follow-up of patients with inflammatory bowel disease: developments presented at Digestive Disease Week 2014].

    Science.gov (United States)

    García-López, Santiago

    2014-09-01

    A lot of data were reported about monitoring patients with inflammatory bowel disease, with varying degrees of practical applicability. Concerning the evaluation of disease activity, it was established that objective assessments are needed. Among the techniques that we use, although endoscopy is undoubtedly the reference standard, a lot of data were presented regarding less invasive techniques. The importance of MRIs, CTs and ultrasounds (with some variations) was thus reiterated. The importance of fecal calprotectin is also reiterated, not only for colon disease, but probably small intestine disease as well. Regarding treatment monitoring, a great deal was reported about anti-TNF therapy, demonstrating again its potential role when properly used. In addition to results with infliximab, results with adalimumab were reported as very consistent. For colon cancer prevention, it seems that the clinical guidelines are achieving their objective. It also seems clear that we must improve conventional endoscopic techniques. Finally, there are other aspects that need to be considered when monitoring our patients, such as adequate sleeping patterns, anxiety or depression. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. Chagas disease, adipose tissue and the metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Fnu Nagajyothi

    2009-07-01

    Full Text Available Trypanosoma cruzi infection of the adipose tissue of mice triggers the local expression of inflammatory mediators and a reduction in the expression of the adipokine adiponectin. T. cruzi can be detected in adipose tissue by PCR 300 days post-infection. Infection of cultured adipocytes results in increased expression of cytokines and chemokines and a reduction in the expression of adiponectin and the peroxisome proliferator-activated receptor ³, both of which are negative regulators of inflammation. Infection also results in the upregulation of cyclin D1, the Notch pathway, and extracellular signal-regulated kinase and a reduction in the expression of caveolin-1. Thus, T. cruzi infection of cultured adipocytes leads to an upregulation of the inflammatory process. Since adiponectin null mice have a cardiomyopathic phenotype, it is possible that the reduction in adiponectin contributes to the pathogenesis of chagasic cardiomyopathy. Adipose tissue may serve as a reservoir for T. cruzi from which parasites can become reactivated during periods of immunosuppression. T. cruzi infection of mice often results in hypoglycemia. In contrast, hyperglycemia as observed in diabetes results in increased parasitemia and mortality. Adipose tissue is an important target tissue of T. cruzi and the infection of this tissue is associated with a profound impact on systemic metabolism, increasing the risk of metabolic syndrome.

  4. Simulating tissue oxygenation by encapsulating hemoglobin in polymer microcapsules (Conference Presentation)

    Science.gov (United States)

    Liu, Guangli; Wu, Qiang; Shen, Shuwei; Zhao, Gang; Dong, Erbao; Xu, Ronald X.

    2017-03-01

    We describe a combination of liquid-jet microencapsulation and molding techniques to fabricate tissue-simulating phantoms that mimick functional characteristics of tissue oxygen saturation (StO2). Chicken hemoglobin (Hb) was encapsulated inside a photocurable resin by a coaxial flow focusing process. The microdroplets were cured by ultraviolet (UV) illumination to form Hb loaded polymersome microdroplets. The microdroplets were further freeze-dried to form semipermeable solid microcapules with an outer transparent polymeric shell and an inner core of Hb. The diameter of the microcapsules ranged from 50 to100 μm. The absorption spectrum of the microcapsules was measured by a UV/VIS spectrophotometer over a wavelength range from 400 nm to 1100 nm. To fabricate the tissue-simulating phantom, the Hb loaded microcapsules were dispersed in transparent polydimethylsiloxane (PDMS). The optical properties of the phantom were determined by an vertical double integrating sphere with a reconstruction algorithm. The experimental results showed that the tissue-simulating phantom exhibited the spectral characteristics closely resembling that of oxy-hemoglobin. The phantom had a long-term optical stability when stored in 4 ℃, indicating that microencapsulation effectively protected Hb and improved its shelf time. With the Hb loaded microcapsules, we will produce skin-simulating phantoms for quantitative validation of multispectral imaging techniques. To the best of the authors' knowledge, no solid phantom is able to mimick living tissue oxygenation with good agreement. Therefore, our work provided an engineering platform for validating and calibrating spectral optical devices in biomedical applications.

  5. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  6. Bullosis Diabeticorum: Rare Presentation in a Common Disease

    Directory of Open Access Journals (Sweden)

    Vineet Gupta

    2014-01-01

    Full Text Available A 27-year-old African American male presented with a sudden onset of blisters. He had a past medical history of uncontrolled diabetes mellitus type I, diabetic vasculopathy, and neuropathy. The physical examination revealed nonerythematous skin denudations on both elbows and lateral aspect of arm bilaterally. Investigations which included skin biopsies confirmed the diagnosis of bullosis diabeticorum. The bullae were treated with hydrotherapy and healed with no complications in 4 weeks. We present this case to illustrate the rare occurrence of diabetic bulla in a diabetic patient especially with poor glycemic control. The case is also a reminder of the importance of diabetes screening in nondiabetic patients who are diagnosed with diabetic bulla.

  7. Oral health presentations and considerations in gastrointestinal diseases

    Directory of Open Access Journals (Sweden)

    Christeffi Mabel Rolands

    2015-01-01

    Full Text Available Lesions of the gastrointestinal tract (GIT run the gamut from the merely annoying heartburn that has affected many a partakers of a large and spicy meal to the highly lethal cancers. Distressing to the physician is that all disorders of the esophagus tend to produce similar symptoms, namely heartburn, dysphagia, pain, and/or hematemesis. The GIT plays a prominent part in the immune system. The pH (ranging from 1 to 4 of the stomach is acidic which proves fatal for a number of microbes which pass through it. Also, mucus in the stomach (containing IgA antibodies and enzymes present in the saliva and bile neutralize many of these microorganisms. Lesions of the GIT also present with oral symptoms, which is of significance for an oral physician to recognize and treat them.

  8. Primary amyloid heart disease presenting as hypertrophic obstructive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Weston, L.T.; Raybuck, B.D.; Robinowitz, M.; Brinker, J.A.; Oetgen, W.J.

    1986-01-01

    This report describes the unusual presentation of a patient with primary cardiac amyloidosis. Initial clinical symptoms and hemodynamic studies, including Technetium-99m-pyrophosphate scintigraphy, suggested hypertrophic obstructive cardiomyopathy, but endomyocardial biopsy revealed diffuse amyloid infiltration. Only two other cases of left ventricular outflow tract obstruction due to cardiac amyloidosis have been reported. The false-negative technetium-99m-pyrophosphate scintigram in this patient argues for the use of endomyocardial biopsy to aid in the diagnosis of left ventricular hypertrophy.

  9. Pituitary oncocytoma presenting as Cushing′s disease

    Directory of Open Access Journals (Sweden)

    M K Garg

    2013-01-01

    Full Text Available A 19-year-old girl presented with classical features of Cushing′s syndrome. Endocrinal evaluation was consistent with pituitary source of ACTH; but imaging showed normal pituitary. Bilateral inferior petrosal sinus sampling confirmed the diagnosis. A successful remission was achieved after adenomectomy by transphenoidal route. Histopathological examination was consistent with pituitary oncocytoma and immunohistochemistry was positive for synaptophysin, chromogranin, neuron specific enolase, S-100, ACTH, prolactin, and GH.

  10. Amyloid binding properties of curcumin analogues in Alzheimer's disease postmortem brain tissue.

    Science.gov (United States)

    Veldman, Emma R; Jia, Zhisheng; Halldin, Christer; Svedberg, Marie M

    2016-09-06

    The presence of β-amyloid (Aβ) containing plaques in the brain is a hallmark of Alzheimer's disease (AD) and serves as a biomarker for confirmation of diagnosis postmortem. Early diagnosis is of great importance for optimal treatment and for monitoring disease progression in the brain. Highly specific and sensitive biomarkers are thus greatly needed to assess therapeutic efficacy, not only clinically, but also in terms of clearance of histopathological lesions and decelerated neurodegeneration. The objective of the present study was to give more insight into the binding of curcumin analogues, curcuminoids, to Aβ containing plaques in postmortem tissue from AD patients. In vitro autoradiography was utilized to explore affinity and displacement of the curcuminoids; curcumin, demethoxycurcumin (DMC), bisdemethoxycurcumin (BDMC) and dimethoxycurcumin (DIMC). We found that BDMC had the highest affinity for Aβ containing plaques in cortical AD brain tissue in comparison to other curcuminoids. Subsequently, [(3)H]BDMC showed significantly higher specific binding in cortical AD brain tissue compared to control subjects. These findings suggest that curcumin analogues, especially BDMC, may serve as a potential radioligands for Aβ plaque neuroimaging. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Anticoagulant rodenticide toxicity in six dogs presenting for ocular disease.

    Science.gov (United States)

    Griggs, Angela N; Allbaugh, Rachel A; Tofflemire, Kyle L; Ben-Shlomo, Gil; Whitley, David; Paulsen, Michael E

    2016-01-01

    To describe cases of suspected anticoagulant rodenticide toxicity manifesting with predominantly ocular signs. Six canine cases that presented to veterinary referral hospitals for ocular abnormalities and were diagnosed with suspected or confirmed anticoagulant rodenticide ingestion were reviewed for commonalities in presentation and outcome. Five dogs had unilateral ocular signs and one dog had bilateral manifestations. Signs included subconjunctival hemorrhage, exophthalmos, and commonly orbital pain without other significant physical examination findings. Prothrombin time was measured in 5 of 6 dogs and was prolonged in all. Partial thromboplastin time was measured in 4 of 6 dogs and was prolonged in all. Complete blood cell count and serum chemistry profiles demonstrated mild, if any, abnormalities. Five dogs had known anticoagulant rodenticide exposure, and rodenticide ingestion was suspected in 1 additional case based on clinical signs, clinical pathologic abnormalities, and response to treatment. Five of 6 cases were hospitalized overnight for plasma transfusions along with oral or injectable vitamin K1 , and all dogs were treated with oral vitamin K1 for 30 days. All dogs experienced complete resolution of clinical signs within 6 weeks of initiating treatment. Anticoagulant rodenticide toxicity can present with predominantly ocular manifestations. Rodenticide ingestion should be considered in dogs with unilateral or bilateral subconjunctival hemorrhage, exophthalmos, and orbital pain. © 2015 American College of Veterinary Ophthalmologists.

  12. [Fibrocystic disease of the pancreas: a presentation feature. Anatomopathological report].

    Science.gov (United States)

    Heffes Nahmod, L A; Ortiz, J; Cervetto, J L; Guastavino, E; Boffi, A

    1984-01-01

    Five patients with CF (cystic fibrosis) dead between 1974 to 1982 at ages ranging from one to six months are presented. All of them showed edema, hypoalbuminemia and anemia in a severely compromised clinical situation, and failure to gain weight in spite of being breast-fed in the first weeks of life, in four of them. All of them were second or third degree malnourished babies (Gomez classification) at admission. Five children presented edema, two severe, two moderate and one mild. Hematocrit values ranged from 19% to 39% (means 26.4%), and albuminemia from 1.60 to 3.00 g/% (means 2.14 g/%). Two patients presented antecedents of dead brothers. All of them received substitution therapy with pancreatic enzymes. The children dead within seven and seventeen days of admission (means ten days) of broncho-pulmonar disfunction. In this work, we wish to call the pediatrician's attention about the importance of making this diagnostic presumption in the first months of the life.

  13. Reconstruction of Absorbed Doses to Fibroglandular Tissue of the Breast of Women undergoing Mammography (1960 to the Present)

    Science.gov (United States)

    Thierry-Chef, Isabelle; Simon, Steven L.; Weinstock, Robert M.; Kwon, Deukwoo; Linet, Martha S.

    2013-01-01

    The assessment of potential benefits versus harms from mammographic examinations as described in the controversial breast cancer screening recommendations of the U.S. Preventive Task Force included limited consideration of absorbed dose to the fibroglandular tissue of the breast (glandular tissue dose), the tissue at risk for breast cancer. Epidemiological studies on cancer risks associated with diagnostic radiological examinations often lack accurate information on glandular tissue dose, and there is a clear need for better estimates of these doses. Our objective was to develop a quantitative summary of glandular tissue doses from mammography by considering sources of variation over time in key parameters including imaging protocols, x-ray target materials, voltage, filtration, incident air kerma, compressed breast thickness, and breast composition. We estimated the minimum, maximum, and mean values for glandular tissue dose for populations of exposed women within 5-year periods from 1960 to the present, with the minimum to maximum range likely including 90% to 95% of the entirety of the dose range from mammography in North America and Europe. Glandular tissue dose from a single view in mammography is presently about 2 mGy, about one-sixth the dose in the 1960s. The ratio of our estimates of maximum to minimum glandular tissue doses for average-size breasts was about 100 in the 1960s compared to a ratio of about 5 in recent years. Findings from our analysis provide quantitative information on glandular tissue doses from mammographic examinations which can be used in epidemiologic studies of breast cancer. PMID:21988547

  14. In situ follicular neoplasia/lymphoma: Three illustrative cases exemplifying unique disease presentations

    Directory of Open Access Journals (Sweden)

    Uma Sakhadeo

    2012-01-01

    Full Text Available We report three elderly patients with follicular lymphoma in situ (FLIS each highlighting a unique pattern of disease presentation and progression. The first patient had incidentally detected FLIS with peripheral blood spill and yet had an 11-year uneventful follow up. The second patient with an overt follicular lymphoma (FL developed high-grade transformation in jejunum with FLIS extensively involving the Payers patches. The third patient had a FLIS but that qualified as higher grade and was treated in spite of lack of overt FL mainly because of higher grade and patient subsequently did develop overt FL. The first case of typical FLIS confirms that peripheral blood spill does not connote poor prognosis in FLIS, the second case illustrates that FLIS may colonize mucosa-associated lymphoid tissue as part of homing in process of a disseminated FL and the third case validates the aggressive nature of high-grade FLIS.

  15. X-linked adrenoleukodystrophy presenting as Addison’s disease

    Science.gov (United States)

    Morell, Bernhard Kaspar; Teichler, Jens; Budak, Kemal; Vollenweider, Jörg; Pavlicek, Vojtech

    2010-01-01

    We report the case of a young man with a history of attention deficit/hyperactivity disorder and mild cognitive impairment who presented with chronic fatigue, anorexia and progressive darkening of the skin. On laboratory testing, severely depressed concentrations of morning cortisol, along with highly elevated values of adrenocorticotropic hormone (ACTH) revealed primary adrenal insufficiency as the primary cause of the patient’s symptomatology. Imaging of the brain showed altered signal intensities in the parieto-occipital regions of the brain. The demonstration of increased very long chain fatty acids (VLCFA) established the diagnosis of adolescent X-linked adrenoleukodystrophy (X-ALD). Presenting at an advanced yet slowly progressive stage the patient was not a suitable candidate for haematopoietic stem cell transplantation (HSCT), and treatment focused on hormone replacement therapy, family counselling and supportive care. On follow-up visits within the following year, fatigue had diminished and there was no evidence of progressive neurological deficits. However, exacerbation of the psychiatric symptomatology resulted in admittance to a psychiatric ward. PMID:22753300

  16. Stroke as an Unusual First Presentation of Lyme Disease

    Directory of Open Access Journals (Sweden)

    Mohamad Almoussa

    2015-01-01

    Full Text Available Introduction. Lyme neuroborreliosis is a nervous system infection caused by spirochete Borrelia burgdorferi with diverse neurological complications. Stroke due to cerebral vasculitis is a rare consequence of neuroborreliosis and has been described in just a few case reports. Case Presentation. Here, we report the case of a 43-year-old patient who presented with discrete left-sided hemiparesis and amnestic cognitive impairment. Brain magnetic resonance imaging showed a thalamic infarct, and serological and cerebrospinal fluid (CSF tests confirmed the diagnosis of active neuroborreliosis. The antibiotic treatment with intravenous ceftriaxone for three weeks led to an improvement of the symptoms and remarkable regression of radiological findings, but not to full recovery of the amnestic cognitive disorder. Conclusion. Lyme neuroborreliosis should be suspected in patients with cerebrovascular events without obvious risk factors, especially those living in endemic areas such as northern Europe or those who have been exposed to ticks and those with clinical or radiological findings suggesting Lyme neuroborreliosis, in order to establish the diagnosis and start a proper antibiotic therapy.

  17. Detection by enzyme-linked immunosorbent assay of Aujeszky's disease virus in tissues of infected pigs.

    OpenAIRE

    Qvist, P; Meyling, A; Hoff-Jørgensen, R

    1990-01-01

    An enzyme-linked immunosorbent assay was developed for the detection of Aujeszky's disease virus antigen in tissue extracts and in nasal swabs. The enzyme-linked immunosorbent assay is based on two different monoclonal antibodies with specificity for the gII glycoprotein of Aujeszky's disease virus. Viral antigen was detected in 81 of 93 tissue extracts prepared from virus-infected organs. Fifteen outbreaks of Aujeszky's disease were analyzed in this study, and they were all identified by the...

  18. Haemoglobin sickle D disease: A presentation with ischaemic stroke.

    Science.gov (United States)

    Afzal, Hasnain; Umair, Syed Farrukh

    2016-03-01

    Haemoglobin-D, Los Angeles or Haemoglobin D-Punjab is not a rare variant of haemoglobin worldwide especially in Punjab, North western India, and South Asian continent. It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology. However, these variants can co-exist rarely with other haemoglobinopathies such as thalassemia or haemoglobin-S. We describe the case of doubly heterozygous Hb-SD Punjab in a 8 year old girl who presented with ischaemic stroke. Before this case, only one case has been reported but it was with reversible hyperbilirubinaemia in Hb-SD from Rawalpindi, Pakistan. This case images the propensity for occurrence of rare phenotype within our population and underlines the importance of genotyping to avoid erroneous management and poor counseling hence preventing life altering complications which our case developed.

  19. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  20. Serum B cell-activating factor (BAFF) level in connective tissue disease associated interstitial lung disease.

    Science.gov (United States)

    Hamada, Tsutomu; Samukawa, Takuya; Kumamoto, Tomohiro; Hatanaka, Kazuhito; Tsukuya, Go; Yamamoto, Masuki; Machida, Kentaro; Watanabe, Masaki; Mizuno, Keiko; Higashimoto, Ikkou; Inoue, Yoshikazu; Inoue, Hiromasa

    2015-09-30

    Interstitial lung diseases (ILDs) are common in patients with connective tissue diseases (CTDs). Although the diagnosis of an underlying CTD in ILD (CTD-ILD) affects both prognosis and treatment, it is sometimes difficult to distinguish CTD-ILD from chronic fibrosing interstitial pneumonia (CFIP). B cell-activating factor belonging to the tumour necrosis factor family (BAFF) plays a crucial role in B cell development, survival, and antibody production. We examined serum levels of BAFF, surfactant protein D (SP-D), and Krebs von den Lungen-6 (KL-6) in 33 patients with CTD-ILD, 16 patients with undifferentiated CTD-ILD, 19 patients with CFIP, and 26 healthy volunteers. And we analysed the relationship between serum BAFF levels and pulmonary function, as well as the expression of BAFF in the lung tissue of patients with CTD-ILD. Serum levels of BAFF were significantly higher in CTD-ILD patients compared to healthy subjects and CFIP patients. However, there were no significant differences in serum levels of SP-D and KL-6. Furthermore, serum BAFF levels in CTD-ILD patients were inversely correlated with pulmonary function. BAFF was strongly expressed in the lungs of CTD-ILD patients, but weakly in normal lungs. This is the first study to demonstrate that serum BAFF levels were significantly higher in CTD-ILD patients compared to healthy subjects and CFIP patients. Furthermore, serum BAFF levels were correlated with pulmonary function. We consider that serum BAFF levels in patients with CTD-ILD reflect the presence of ILDs disease activity and severity. These finding suggest that BAFF may be a useful marker for distinguishing CTD-ILD from CFIP.

  1. Undifferentiated connective tissue disease and interstitial lung disease: Trying to define patterns.

    Science.gov (United States)

    Alberti, María Laura; Paulin, Francisco; Toledo, Heidegger Mateos; Fernández, Martín Eduardo; Caro, Fabián Matías; Rojas-Serrano, Jorge; Mejía, Mayra Edith

    To identify clinical or immunological features in patients with undifferentiated connective tissue disease (UCTD) associated interstitial lung disease (ILD), in order to group them and recognize different functional and high resolution computed tomography (HRCT) behavior. Retrospective cohort study. Patients meeting Kinder criteria for UCTD were included. We defined the following predictive variables: 'highly specific' connective tissue disease (CTD) manifestations (Raynaud's phenomenon, dry eyes or arthritis), high antinuclear antibody (ANA) titer (above 1: 320), and 'specific' ANA staining patterns (centromere, cytoplasmic and nucleolar patterns). We evaluated the following outcomes: change in the percentage of the predicted forced vital capacity (FVC%) during the follow-up period, and HRCT pattern. Sixty-six patients were included. Twenty-nine (43.94%) showed at least one 'highly specific' CTD manifestation, 16 (28.57%) had a 'specific' ANA staining pattern and 29 (43.94%) high ANA titer. Patients with 'highly specific' CTD manifestations were younger (mean [SD] 52 years [14.58] vs 62.08 years [9.46], P<.001), were more likely men (10.34% vs 48.65%, P<.001) and showed a smaller decline of the FVC% (median [interquartile range] 1% [-1 to 10] vs -6% [-16 to -4], P<.006). In the multivariate analysis, the presence of highly specific manifestations was associated with improvement in the FVC% (B coefficient of 13.25 [95% confidence interval, 2.41 to 24.09]). No association was observed in relation to the HRCT pattern. The presence of 'highly specific' CTD manifestations was associated with female sex, younger age and better functional behavior. These findings highlight the impact of the clinical features in the outcome of patients with UCTD ILD. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  2. Cutaneous manifestations of mixed connective tissue disease: Study from a tertiary care hospital in Eastern India

    Directory of Open Access Journals (Sweden)

    Sumit Sen

    2014-01-01

    Full Text Available Context: Mixed connective tissue disorder is an uncommon disease. Some scientists are reluctant to recognize it as a separate entity. Some others have defined this ailment. Cutaneous features of this condition are unique. Researchers from India have described these features to relate to those described in the studies from other parts of the globe. Aims: This study aims to delineate the skin manifestations of clearly defined mixed connective tissue disease (MCTD patients, to compare them with those established as overlap syndrome, and to relate them with studies from other parts of the globe. Settings and Design: Successive patients who fulfilled the specific criteria for MCTD presenting in the skin outpatient department of a tertiary care hospital in eastern India were clinically examined from 2009 for 3 years. Materials and Methods: The number of participants was 23 and the dermatological features of these were compared with 22 patients with overlap syndrome. The antibody to uridine-rich U1 ribonucleoprotein was measured for all patients. Statistical Analysis Used: SPSS (Version 17 and MedCalc (Version 11.6. Results: The Male: Female ratio among the MCTD patients was 1:6.67 and that of the overlap syndrome was 1:10. Twenty patients of the MCTD group presented with synovitis as against only seven in the overlap group. Raynaud′s phenomenon was present in some of the subjects. Puffy fingers were rare in our study. Facial numbness was reported by four of those suffering from MCTD. Antinuclear antibody (ANA was essentially of a speckled pattern in this disease Conclusions: Cutaneous indicators of MCTD are distinct from overlap syndrome. Knowledge of these manifestations prevalent in a region may lead to early diagnosis of the disease.

  3. Chronic meningococcemia: a rare presentation of meningococcal disease: case report

    Directory of Open Access Journals (Sweden)

    Antonio Adolfo Guerra Soares Brandão

    2012-03-01

    Full Text Available Chronic meningococcemia is a rare clinical presentation within the spectrumof infections due to Neisseria meningitidis, which was first described in 1902.It is defined as a chronic and benign meningococcal bacteremia withoutmeningeal signs or symptoms with at least one week’s duration, characterizedby intermittent or continuous fever, polymorphic cutaneous rash, and migratoryarthropathy. The incidence is believed to be around 1:200,000 inhabitants. Itaffects predominantly young people and adults, and it is equally distributedbetween genders. Diagnosis may be challenging in the early stages of thedisease because of the difficulty in isolating Neisseria meningitidis (it reaches74% of positivity in advanced stages. Recently, the use of PCR for detectingNeisseria sp antigen in skin biopsies specimens has been considered for thoseculture-negative cases. The authors report a case of a 54-year-old femalepatient who sought medical attention for a five-day fever followed by arthralgiaand skin lesions predominantly in the lower limbs. The patient progressed toa toxemic clinical status that improved after the administration of antibiotictherapy, which consisted of oxacillin and ceftriaxone. The diagnosis of chronicmeningococcemia was performed after the isolation of Neisseria meningitidisin two different blood sample cultures. This is, to our knowledge, the firstcase of chronic meningococcemia described in Brazil (up to the writing of thisreport.

  4. Myxoinflammatory fibroblastic sarcoma: spectrum of disease and imaging presentation

    Energy Technology Data Exchange (ETDEWEB)

    Gaetke-Udager, Kara; Yablon, Corrie M.; Morag, Yoav [University of Michigan Health System, Department of Radiology, Ann Arbor, MI (United States); Lucas, David R. [University of Michigan Health System, Department of Pathology, Ann Arbor, MI (United States)

    2016-03-15

    To describe the imaging findings of a series of myxoinflammatory fibroblastic sarcomas (MFSs) from our institution, including a case of dedifferentiated MFS and two cases with areas of high-grade tumor, in addition to typical cases of low-grade tumor. To correlate the imaging findings with the pathologic features of these tumors. IRB approval was obtained. Retrospective search of the pathology database at our institution from 2000 to 2015 identified seven cases of MFS with available imaging. Imaging, pathology, and clinical data were reviewed. Unlike the majority of well-differentiated tumors in our series (four cases), one tumor showed dedifferentiation and two cases had areas of high-grade tumor. The dedifferentiated tumor showed peripheral post-contrast enhancement. One case with a substantial high-grade component showed osseous destruction and peripheral enhancement in the high-grade area, while the low-grade component enhanced diffusely. The second case had a small high-grade area and showed diffuse enhancement. All three of these cases had non-acral locations and lacked association with a tendon. The four cases of low-grade MFS demonstrated diffuse enhancement, were located in the distal extremities, and were associated with a tendon. The imaging findings of dedifferentiated and high-grade MFS differ from the more typical low-grade tumors in that they have nonenhancing areas, a non-acral location, lack association with a tendon, and may involve bone. The radiologist should be aware that MFS represents a spectrum that includes low-grade tumors, tumors with high-grade areas, and tumors with dedifferentiation and that this spectrum presents with differing imaging features. (orig.)

  5. Ultrasound and photoacoustic imaging to monitor ocular stem cell delivery and tissue regeneration (Conference Presentation)

    Science.gov (United States)

    Kubelick, Kelsey; Snider, Eric; Yoon, Heechul; Ethier, C. Ross; Emelianov, Stanislav Y.

    2017-03-01

    Glaucoma is associated with dysfunction of the trabecular meshwork (TM), a fluid drainage tissue in the anterior eye. A promising treatment involves delivery of stem cells to the TM to restore tissue function. Currently histology is the gold standard for tracking stem cell delivery and differentiation. To expedite clinical translation, non-invasive longitudinal monitoring in vivo is desired. Our current research explores a technique combining ultrasound (US) and photoacoustic (PA) imaging to track mesenchymal stem cells (MSCs) after intraocular injection. Adipose-derived MSCs were incubated with gold nanospheres to label cells (AuNS-MSCs) for PA imaging. Successful labeling was first verified with in vitro phantom studies. Next, MSC delivery was imaged ex vivo in porcine eyes, while intraocular pressure was hydrostatically clamped to maintain a physiological flow rate through the TM. US/PA imaging was performed before, during, and after AuNS-MSC delivery. Additionally, spectroscopic PA imaging was implemented to isolate PA signals from AuNS-MSCs. In vitro cell imaging showed AuNS-MSCs produce strong PA signals, suggesting that MSCs can be tracked using PA imaging. While the cornea, sclera, iris, and TM region can be visualized with US imaging, pigmented tissues also produce PA signals. Both modalities provide valuable anatomical landmarks for MSC localization. During delivery, PA imaging can visualize AuNS-MSC motion and location, creating a unique opportunity to guide ocular cell delivery. Lastly, distinct spectral signatures of AuNS-MSCs allow unmixing, with potential for quantitative PA imaging. In conclusion, results show proof-of-concept for monitoring MSC ocular delivery, raising opportunities for in vivo image-guided cell delivery.

  6. Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

    Science.gov (United States)

    Bendroth-Asmussen, Lisa; Aksglaede, Lise; Gernow, Anne B; Lund, Allan M

    2016-01-01

    A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies.

  7. Muse Cells: Nontumorigenic Pluripotent Stem Cells Present in Adult Tissues—A Paradigm Shift in Tissue Regeneration and Evolution

    Directory of Open Access Journals (Sweden)

    Ariel A. Simerman

    2016-01-01

    Full Text Available Muse cells are a novel population of nontumorigenic pluripotent stem cells, highly resistant to cellular stress. These cells are present in every connective tissue and intrinsically express pluripotent stem markers such as Nanog, Oct3/4, Sox2, and TRA1-60. Muse cells are able to differentiate into cells from all three embryonic germ layers both spontaneously and under media-specific induction. Unlike ESCs and iPSCs, Muse cells exhibit low telomerase activity and asymmetric division and do not undergo tumorigenesis or teratoma formation when transplanted into a host organism. Muse cells have a high capacity for homing into damaged tissue and spontaneous differentiation into cells of compatible tissue, leading to tissue repair and functional restoration. The ability of Muse cells to restore tissue function may demonstrate the role of Muse cells in a highly conserved cellular mechanism related to cell survival and regeneration, in response to cellular stress and acute injury. From an evolutionary standpoint, genes pertaining to the regenerative capacity of an organism have been lost in higher mammals from more primitive species. Therefore, Muse cells may offer insight into the molecular and evolutionary bases of autonomous tissue regeneration and elucidate the molecular and cellular mechanisms that prevent mammals from regenerating limbs and organs, as planarians, newts, zebrafish, and salamanders do.

  8. Epidemiology of Mixed Connective Tissue Disease, 1985-2014: A Population-Based Study.

    Science.gov (United States)

    Ungprasert, Patompong; Crowson, Cynthia S; Chowdhary, Vaidehi R; Ernste, Floranne C; Moder, Kevin G; Matteson, Eric L

    2016-12-01

    To characterize the epidemiology of mixed connective tissue disease (MCTD) from 1983 to 2014. An inception cohort of patients with incident MCTD in 1985-2014 in Olmsted County, Minnesota was identified based on comprehensive individual medical record review. Diagnosis of MCTD required fulfillment of at least 1 of the 4 widely accepted diagnostic criteria without fulfillment of classification criteria for other connective tissue diseases. Data were collected on demographic characteristics, clinical presentation, laboratory investigations, and mortality. A total of 50 incident cases of MCTD were identified (mean age 48.1 years and 84% were female). The annual incidence of MCTD was 1.9 per 100,000 population. Raynaud's phenomenon was the most common initial symptoms (50%), followed by arthralgia (30%) and swollen hands (16%). The diagnosis was frequently delayed with the median time from first symptom to fulfillment of criteria of 3.6 years. At fulfillment of criteria, arthralgia was the most prevalent manifestation (86%), followed by Raynaud's phenomenon (80%), swollen hands (64%), leukopenia/lymphopenia (44%), and heartburn (38%). Evolution to other connective tissue occurred infrequently with a 10-year rate of evolution of 8.5% and 6.3% for systemic lupus erythematosus and systemic sclerosis, respectively. The overall mortality was not different from the general population with a standardized mortality ratio of 1.1 (95% confidence interval 0.4-2.6). This study was the first population-based study of MCTD to provide a complete picture of epidemiology and clinical characteristics of MCTD. MCTD occurred in about 2 persons per 100,000 per year. Evolution to other connective diseases occurred infrequently and the mortality was not affected. © 2016, American College of Rheumatology.

  9. Mucosa-associated Lymphoid Tissue Lymphoma Presenting with Bowel Obstruction of the Duodenum and Small Bowels: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Guen Ho; Hong, Seong Sook; Kim, Jung Hoon; Chang, Yun Woo; Choi, Duek Lin; Hwang, Jung Hwa; Kwon, Kui Hyang [Soonchunhyang University Hospital, Seoul (Korea, Republic of)

    2010-01-15

    The occurrence of primary duodenal mucosa associated lymphoid tissue (MALT) lymphoma is extremely rare, and more so is the obstruction of the duodenum for the MALT lymphoma. We describe the small bowel follow through and CT findings in an uncommon case of MALT lymphoma presenting with bowel obstruction of the 2nd portion of the duodenum and small bowels.

  10. Mucosa-associated Lymphoid Tissue Lymphoma Presenting with Bowel Obstruction of the Duodenum and Small Bowels: A Case Report

    International Nuclear Information System (INIS)

    Ryu, Guen Ho; Hong, Seong Sook; Kim, Jung Hoon; Chang, Yun Woo; Choi, Duek Lin; Hwang, Jung Hwa; Kwon, Kui Hyang

    2010-01-01

    The occurrence of primary duodenal mucosa associated lymphoid tissue (MALT) lymphoma is extremely rare, and more so is the obstruction of the duodenum for the MALT lymphoma. We describe the small bowel follow through and CT findings in an uncommon case of MALT lymphoma presenting with bowel obstruction of the 2nd portion of the duodenum and small bowels

  11. Mechanisms of foot-and-mouth disease virus tropism inferred from differential tissue gene expression

    Science.gov (United States)

    Foot-and-Mouth Disease virus (FMDV) has a characteristic tropism in terms of primary, secondary, and persistent infection and vesicular lesion sites. The virus targets specific tissues for primary replication. From these tissues, the virus spreads via the blood stream to a few preferred secondary in...

  12. Lower extremity necrotizing fasciitis: A unique initial presentation of Crohn's disease

    Directory of Open Access Journals (Sweden)

    Anna Weiss

    2015-09-01

    Full Text Available Crohn's disease is a disease of the bowel, typically presenting with diarrhea, weight loss, and abdominal pain. Complications such as abscesses, fistulas, and strictures may require surgical intervention. We would like to report a patient with Crohn's disease who presented for the first time with left lower extremity necrotizing fasciitis. There are very few reports of necrotizing fasciitis in Crohn's disease as the initial presentation.

  13. Glucocorticoid Signaling in Health and Disease: Insights From Tissue-Specific GR Knockout Mice.

    Science.gov (United States)

    Whirledge, Shannon; DeFranco, Donald B

    2018-01-01

    Glucocorticoids are adrenally produced hormones critically involved in development, general physiology, and control of inflammation. Since their discovery, glucocorticoids have been widely used to treat a variety of inflammatory conditions. However, high doses or prolonged use leads to a number of side effects throughout the body, which preclude their clinical utility. The primary actions of glucocorticoids are mediated by the glucocorticoid receptor (GR), a transcription factor that regulates many complex signaling pathways. Although GR is nearly ubiquitous throughout the body, glucocorticoids exhibit cell- and tissue-specific effects. For example, glucocorticoids stimulate glucose production in the liver, reduce glucose uptake in the skeletal muscle, and decrease insulin secretion from the pancreatic β-cells. Mouse models represent an important approach to understanding the dynamic functions of GR signaling in normal physiology, disease, and resistance. In the absence of a viable GR null model, gene-targeting techniques utilizing promoter-driven recombination have provided an opportunity to characterize the tissue-specific actions of GR. The aim of the present review is to describe the organ systems in which GR has been conditionally deleted and summarize the functions ascribed to glucocorticoid action in those tissues. Copyright © 2018 Endocrine Society.

  14. MINERALIZATION DISORDER OF OSSEOUS TISSUE AMONG THE CHILDREN, SUFFERING FROM INFLAMMATORY BOWEL DISEASES

    Directory of Open Access Journals (Sweden)

    E.A. Yablokova

    2006-01-01

    Full Text Available The growth rate of inflammatory bowel diseases among children actualizes early detection of this pathology form and its aftera effects, including secondary osteoporosis. The research purpose is to study the characteristics of osseous tissue mineralization, disorder of physical growth and sexual maturity of children, suffering from inflammatory bowel diseases. The researchers have examined 116 children, including 33 children, suffering from inflammatory bowel diseases; 26 children, suffering from persistent colitis; 29 children, suffering from gasatroduodenitis; and 28 children with no GI tract pathologies. The study deals with estimate of level of mineral osseous tissue density, biochemical rates of osseous metabolism, as well as physical growth and sexual maturity. reduction of mineral osseous tissue density was found among 48,5% of children, suffering from inflammatory bowel diseases, 23% of children, suffering from persistent colitis, 31% of children, suffering from chronic gastritis and 18% of almost healthy children, at the same time, it was more apparent among children, suffering from inflammatory bowel diseases. The lowest rates of mineral osseous tissue density were among girls. Calcium phosphoric metabolism did not change apart from calcium creatinine coefficient, if osteopenia was observed. Thus, reduction of mineral osseous tissue density is often observed among children, suffering from inflammatory bowel diseases, especially among adolescent girls. Therefore, it conditions the necessity to include densimetry into the conventional examination plan for children, suffering from inflammatory bowel diseases. Authors also find it advisable to monitor physical growth and sexual maturity of children.Key words: children, inflammatory bowel diseases, osteoporosis.

  15. Parkinson’s Disease and Its Management: Part 1: Disease Entity, Risk Factors, Pathophysiology, Clinical Presentation, and Diagnosis

    OpenAIRE

    DeMaagd, George; Philip, Ashok

    2015-01-01

    This article—the first of a five-part series—discusses possible causes, symptoms, diagnosis, and goals for treatment of Parkinson’s disease. Identifying diseases that have similar presentations is an important component of the diagnostic process.

  16. Fiber-based tissue identification for electrode placement in deep brain stimulation neurosurgery (Conference Presentation)

    Science.gov (United States)

    DePaoli, Damon T.; Lapointe, Nicolas; Goetz, Laurent; Parent, Martin; Prudhomme, Michel; Cantin, Léo.; Galstian, Tigran; Messaddeq, Younès.; Côté, Daniel C.

    2016-03-01

    Deep brain stimulation's effectiveness relies on the ability of the stimulating electrode to be properly placed within a specific target area of the brain. Optical guidance techniques that can increase the accuracy of the procedure, without causing any additional harm, are therefore of great interest. We have designed a cheap optical fiber-based device that is small enough to be placed within commercially available DBS stimulating electrodes' hollow cores and that is capable of sensing biological information from the surrounding tissue, using low power white light. With this probe we have shown the ability to distinguish white and grey matter as well as blood vessels, in vitro, in human brain samples and in vivo, in rats. We have also repeated the in vitro procedure with the probe inserted in a DBS stimulating electrode and found the results were in good agreement. We are currently validating a second fiber optic device, with micro-optical components, that will result in label free, molecular level sensing capabilities, using CARS spectroscopy. The final objective will be to use this data in real time, during deep brain stimulation neurosurgery, to increase the safety and accuracy of the procedure.

  17. Proatherogenic effects of common pathogens on liver, adipose tissue and coronary artery disease

    OpenAIRE

    Hyvärinen, Kati

    2013-01-01

    Atherosclerotic vascular diseases (ASVDs) affect the heart and circulatory system. One of the most common forms is coronary artery disease (CAD) which may eventually lead to acute coronary syndrome (ACS). ASVDs are currently the leading cause of mortality worldwide, and account for 47% of all deaths in Europe. The underlying mechanism is atherosclerosis, a progressive disease that manifests in several tissues. Common chronic infections, including periodontal disease and Chlamydia pneumoniae, ...

  18. Fuzzy logic algorithm for quantitative tissue characterization of diffuse liver diseases from ultrasound images.

    Science.gov (United States)

    Badawi, A M; Derbala, A S; Youssef, A M

    1999-08-01

    Computerized ultrasound tissue characterization has become an objective means for diagnosis of liver diseases. It is difficult to differentiate diffuse liver diseases, namely cirrhotic and fatty liver by visual inspection from the ultrasound images. The visual criteria for differentiating diffused diseases are rather confusing and highly dependent upon the sonographer's experience. This often causes a bias effects in the diagnostic procedure and limits its objectivity and reproducibility. Computerized tissue characterization to assist quantitatively the sonographer for the accurate differentiation and to minimize the degree of risk is thus justified. Fuzzy logic has emerged as one of the most active area in classification. In this paper, we present an approach that employs Fuzzy reasoning techniques to automatically differentiate diffuse liver diseases using numerical quantitative features measured from the ultrasound images. Fuzzy rules were generated from over 140 cases consisting of normal, fatty, and cirrhotic livers. The input to the fuzzy system is an eight dimensional vector of feature values: the mean gray level (MGL), the percentile 10%, the contrast (CON), the angular second moment (ASM), the entropy (ENT), the correlation (COR), the attenuation (ATTEN) and the speckle separation. The output of the fuzzy system is one of the three categories: cirrhosis, fatty or normal. The steps done for differentiating the pathologies are data acquisition and feature extraction, dividing the input spaces of the measured quantitative data into fuzzy sets. Based on the expert knowledge, the fuzzy rules are generated and applied using the fuzzy inference procedures to determine the pathology. Different membership functions are developed for the input spaces. This approach has resulted in very good sensitivities and specificity for classifying diffused liver pathologies. This classification technique can be used in the diagnostic process, together with the history

  19. Disseminated hydatid disease presenting as fever of unknown origin: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Nikhil Gupta

    2015-01-01

    Full Text Available Human hydatid disease occurs due to infection with larval form of Echinococcus granulosus. The disseminated hydatid disease is a very rare finding. Disseminated hydatid disease presenting as a cause of fever of unknown origin is a rare phenomenon. We present to you such a rare case.

  20. Celiac Disease Presenting as Profound Diarrhea and Weight Loss ? A Celiac Crisis

    OpenAIRE

    Bul, Vadim; Sleesman, Brett; Boulay, Brian

    2016-01-01

    Patient: Male, 46 Final Diagnosis: Celiac crisis Symptoms: Abdominal pain ? chronic diarrhea ? lightheadedness ? weakness ? weight loss Medication: ? Clinical Procedure: ? Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease ? a celiac crisis. Case Report: A 46-...

  1. Adipose tissue, obesity and non-alcoholic fatty liver disease.

    Science.gov (United States)

    Polyzos, Stergios A; Kountouras, Jannis; Mantzoros, Christos S

    2017-06-01

    The association of obesity with non-alcoholic fatty liver disease (NAFLD) has been established. Obesity has been linked not only to initial stages of the disease, i.e., simple steatosis (SS), but also to its severity. From an epidemiologic point of view, both diseases has an increasing prevalence worldwide. From a pathogenetic point of view, obesity and its associate IR contribute to the initial fat accumulation in the hepatocyte (SS), but also to the progression of SS to nonalcoholic steatohepatitis (NASH), NASH-related cirrhosis and hepatocellular carcinoma (HCC). From a clinical point of view, obesity has increased morbidity and mortality when combined with NAFLD, owing to cardiovascular and liver-specific mortality, including higher HCC risk. From a therapeutic point of view, weight loss is regarded as the cornerstone for the disease prevention and treatment. Although diet and exercise are the first choice to this aim, they are both difficult to achieve and sustain. Thus, the need for pharmacological treatment is considered of high importance. To treat obesity through pharmacologic weight loss, orlistat has been investigated, though with limited efficacy. Currently, liraglutide appears to be more efficacious, but it has not been officially approved for specifically NASH patients. Bariatric surgery is another alternative for severely obese patients showing histological improvement in NASH patients. However, since relative data from randomized trials are very limited, morbid obesity-related NASH patients may be subjected to bariatric surgery only after a careful individualized risk-benefit assessment.

  2. T Cell Histiocyte Rich Large B Cell Lymphoma Presenting as Hemophagocytic Lymphohistiocytosis: An Uncommon Presentation of a Rare Disease

    Directory of Open Access Journals (Sweden)

    Uroosa Ibrahim

    2017-01-01

    Full Text Available T cell histiocyte rich large B cell lymphoma (THRLBCL is a rare subtype of non-Hodgkin’s lymphoma characterized by malignant B cells with reactive T lymphocytes. The pathophysiology is thought to involve cytokine-mediated evasion of T cell immune response by malignant B cells. It usually presents at an advanced stage with extranodal involvement. An extremely unusual manifestation of the disease is hemophagocytic lymphohistiocytosis (HLH which is a hyperinflammatory disorder. We present a case of a 43-year-old male who presented with recurrent fever and recent radiologic imaging showing splenomegaly and right inguinal lymphadenopathy. On presentation, he had a fever of 105°F. Laboratory work-up was consistent with pancytopenia, elevated lactate dehydrogenase, elevated D-dimer, and a ferritin of 24,247 ng/mL. The patient was started on steroid therapy. An excisional biopsy of the right inguinal lymph node was consistent with a diagnosis of THRLBCL and the patient subsequently received six cycles of chemotherapy with R-CHOP (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone after which a PET-CT scan showed no evidence of biologically active disease and ferritin was down to 822 ng/mL. We discuss the clinical manifestations and diagnostic and therapeutic considerations of this rare disease along with a review of reported cases in the literature.

  3. Specific features of urinary system diseases in children with connective tissue dysplasia

    Directory of Open Access Journals (Sweden)

    T. A. Kryganova

    2015-01-01

    Full Text Available Urinary system diseases in children with differentiated connective tissue dysplasia have not been adequately investigated and the available information is extremely scarce. The diseases represent mainly minimal change disease as orthostatic proteinuria, microscopic hematuria, metabolic disturbances, structural (nephroptosis and vascular abnormalities (aneurysms. Undifferentiated connective tissue dysplasia is an abnormality that is being actively explored by Russian investigators. Multiple organ dysfunctions attract the attention of physicians in many specialties, including nephrologists. Urinary system diseases as recurrent urinary tract infections, renal and calicopeMc malformations, bladder diseases, and severe congenital anomalies of the kidney and urinary tract (CAKUT are often accompanied by the manifestations of connective tissue dysplasia. A number of authors have identified connective tissue disease markers (matrix metalloproteinases, tissue inhibitors of matrix metalloproteinases, transforming growth factor-p etc. to evaluate sclerotic processes in the kidneys. There are single studies of these markers in Alport syndrome or au-tosomal dominant polycystic kidney disease while such data on the differentiated types of dysplasia (Ehlers-Danlos syndrome, Marfan's syndrome are unavailable.

  4. Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family

    Directory of Open Access Journals (Sweden)

    Sakač Dejan

    2012-01-01

    Full Text Available Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues. This can cause skin and ocular lessions, progressive renal, cardiac or cerebrovascular disorders. If a person in a family has Fabry disease, other family members including even extended relatives, may also be at risk. Case report. We presented three cases pointed out various manifestation of Fabry disease, that illustrate a possible cause for otherwise unexplained cardiac hypertrophy and various rhythm and conduction abnormalities. Conclusion. Although most symptoms begin in childhood, various manifestations often lead to misdiagnosis and clinical diagnosis is frequently delayed for many years, even decades. Enzyme replacement therapy has become available, pointing out the importance of early diagnosis so that treatment can be initiated before irreversible organ damage.

  5. A rare presentation of extra nodal rosai-dorfman disease (case report

    Directory of Open Access Journals (Sweden)

    Abbas Al-Ramzi

    2017-06-01

    It is a very rare condition that Rosai-Dorfman disease might shoe a temporoparietal area involvement can be seen from a review of all literature. The presentation of the disease, differential diagnosis and treatment were discussed.

  6. Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

    Science.gov (United States)

    Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

    2015-01-01

    Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

  7. Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease

    Directory of Open Access Journals (Sweden)

    P S Priyamvada

    2015-01-01

    Full Text Available Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig light chains. In heavy chain amyloidosis (AH, deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL, the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

  8. Systemic Inflammation in Chronic Obstructive Pulmonary Disease: May Adipose Tissue Play a Role? Review of the Literature and Future Perspectives

    Directory of Open Access Journals (Sweden)

    Ruzena Tkacova

    2010-01-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is a major cause of morbidity and mortality worldwide. Low-grade systemic inflammation is considered a hallmark of COPD that potentially links COPD to increased rate of systemic manifestations of the disease. Obesity with/without the metabolic syndrome and cachexia represent two poles of metabolic abnormalities that may relate to systemic inflammation. On one hand systemic inflammatory syndrome likely reflects inflammation in the lungs, i.e. results from lung-to plasma spillover of inflammatory mediators. On the other hand, obesity-related hypoxia results in local inflammatory response within adipose tissue per se, and may contribute to elevations in circulatory mediators by spillover from the adipose tissue to the systemic compartment. The extent to which systemic hypoxia contributes to the adipose tissue inflammation remains unknown. We assume that in patients with COPD and concurrent obesity at least three factors play a role in the systemic inflammatory syndrome: the severity of pulmonary impairment, the degree of obesity-related adipose tissue hypoxia, and the severity of systemic hypoxia due to reduced pulmonary functions. The present review summarizes the epidemiological and clinical evidence linking COPD to obesity, the role of adipose tissue as an endocrine organ, and the role of hypoxia in adipose tissue inflammation.

  9. Non-IPSID small intestinal lymphoma: Evidence for disseminated disease at presentation

    International Nuclear Information System (INIS)

    Milanovic, N.; Jelic, S.; Kovcin, V.; Opric, M.; Marinkovic, M.; Jovanovic, V.

    1994-01-01

    During the period 1984-1989 the authors have observed 20 patients with non-immuno-proliferative small intestinal disease (non-IPSID) small intestinal lymphomas, 11 males and 9 females. In 11 patients the first symptoms were abdominal cramps requiring laparotomy, in 4 ills, and in 5 perforation with peritonitis. Resection of the involved part of the intestine was performed in 17 patients. Lymphoma tissue was present in 4 of 5 retrogradely examined resection lines on macroscopically normal small intestine. According to Working Formulation, 3 patients had low grade, 3 intermediate grade and 14 high grade histology. Affection of extra intestinal/mesenteric structures was found in 18 of 20 patients, with a total of other lymphoma localizations. 8 of 20 affection of the nasopharynx and/or Waldeyer's ring. According to Crowther's classification 55 % patients were in Stage IV, 35 % in Stage III and 10 % in stage Ib. All patients were treated with chemotherapy, 13 with ProMACE regimen and 7 with CHOP-type regimens. Ten of twenty patients are alive and in complete remission for over 5 years (7 of 11 of Stage IV and 3 of 9 of Stage Ib/III; 8 of 14 with high grade and 2 of 6 with intermediate/low grade histology). Our results point to the fact that in non-IPSID lymphoma of the small intestine, lymphoma involvement of the intestinal wall might be present beyond obvious lymphoma lesions. Most patients with apparently primary small intestinal lymphoma have a widespread disease. Thus, local forms of treatment such as surgery and/or radiotherapy can not be expected to be curative in the majority of patients. Data from this study suggest that following initial surgery the chemotherapy is the treatment of choice for these patients. (author)

  10. Pathways to clinical CLARITY: volumetric analysis of irregular, soft, and heterogeneous tissues in development and disease.

    Science.gov (United States)

    Hsueh, Brian; Burns, Vanessa M; Pauerstein, Philip; Holzem, Katherine; Ye, Li; Engberg, Kristin; Wang, Ai-Chi; Gu, Xueying; Chakravarthy, Harini; Arda, H Efsun; Charville, Gregory; Vogel, Hannes; Efimov, Igor R; Kim, Seung; Deisseroth, Karl

    2017-07-19

    Three-dimensional tissue-structural relationships are not well captured by typical thin-section histology, posing challenges for the study of tissue physiology and pathology. Moreover, while recent progress has been made with intact methods for clearing, labeling, and imaging whole organs such as the mature brain, these approaches are generally unsuitable for soft, irregular, and heterogeneous tissues that account for the vast majority of clinical samples and biopsies. Here we develop a biphasic hydrogel methodology, which along with automated analysis, provides for high-throughput quantitative volumetric interrogation of spatially-irregular and friable tissue structures. We validate and apply this approach in the examination of a variety of developing and diseased tissues, with specific focus on the dynamics of normal and pathological pancreatic innervation and development, including in clinical samples. Quantitative advantages of the intact-tissue approach were demonstrated compared to conventional thin-section histology, pointing to broad applications in both research and clinical settings.

  11. Pulmonary hypertension in connective tissue disease - Report of three cases and review of the literature

    NARCIS (Netherlands)

    L.C. Pronk (Linda); A.J.G. Swaak (Antonius)

    1991-01-01

    textabstractPatients with connective tissue disease (CTD) who are prone to developed isolated pulmonary hypertension (PH) are primarily young females with a history of Raynaud's phenomenon associated with an exertional dyspnoea. From the start of the disease, pulmonary function tests show a

  12. Relationship between Echocardiographic Epicardial Adipose Tissue (EAT) Thickness and Angiographically Detected Coronary Artery Disease.

    Science.gov (United States)

    Bhuiyan, G R; Roy, G C; Siddique, M A; Rahman, M; Ahmed, K; Nahar, F

    2017-07-01

    Epicardial adipose tissue (EAT) is a particular form of visceral adipose tissue deposited around the heart and there is growing evidence about the physiological and metabolic importance of EAT, especially in the association of cardiovascular risk profiles and the pathogenesis of atherosclerotic coronary artery disease. This observational, cross sectional study was done to determine the relationship between echocardiographic epicardial adipose tissue (EAT) thickness and coronary artery disease (CAD). Total 123 patients with established or suspected coronary artery disease admitted for coronary angiogram in the department of Cardiology of Bangabandhu Sheikh Mujib Medical University (BSMMU) from November 2010 to the end of April 2011 were included in this study. Epicardial adipose tissue (EAT) thickness measurements by echocardiography were compared with coronary angiographic findings. Echocardiographic epicardial adipose tissue (EAT) thickness was significantly higher in patients with CAD in comparison to those with normal coronary arteries (6.67±2.24mm vs. 4.61±1.62mm; pEAT thickness increased with the severity of CAD (multi-vessel disease 7.99±2.12mm vs. single vessel disease 5.93±1.97mm; pEAT thickness (r=0.617, pEAT) thickness as a predictor of angiographic CAD was 6.44mm with 45.31% sensitivity and 92.86% specificity [ROC area 0.756, pEAT) thickness was significantly correlated with the presence and severity of angiographically detected coronary artery disease (CAD).

  13. Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

    Directory of Open Access Journals (Sweden)

    Agathi-Vasiliki Goula

    2013-07-01

    Full Text Available More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER.

  14. THE CLINICAL PRESENTATION OF AUTOIMMUNE THYROID DISEASE IN MEN IS ASSOCIATED WITH IL12B GENOTYPE

    DEFF Research Database (Denmark)

    Walsh, John P; Berry, Jemma; Liu, Shu

    2011-01-01

    hypothesized that IL12B genotype may influence the clinical presentation of autoimmune thyroid disease. Objective.  We tested for differences in IL12B genotype between Graves' disease and Hashimoto's disease. Patients.  We studied a discovery cohort of 203 Australian women and 37 men with autoimmune thyroid.......034). This result was confirmed in the European males (MAF 24% and 41%; P=0.013). On combined analysis of Australian, European and Chinese men (N=285), the difference was highly significant (MAF 23% and 45%; P=3x10(-5) ). In 233 males without thyroid disease, the MAF was 34%, significantly different from Graves......' disease (P=0.005) and Hashimoto's disease (P=0.029). Conclusion.  In men with autoimmune thyroid disease, a common variant located upstream of the IL12B coding region may influence whether patients present with Graves' disease or Hashimoto's disease....

  15. Disease outcome for children who present with oral manifestations of Crohn's disease.

    LENUS (Irish Health Repository)

    Hussey, S

    2011-06-01

    To describe the outcome for children with oral Crohn\\'s disease (OCD) at diagnosis, and to determine if there was a difference in the Paediatric Crohn\\'s Disease Activity Index (PCDAI) scores between those with and those without oral lesions at follow-up.

  16. Label-free biomolecular characterization of human breast cancer tissue with stimulated Raman scattering (SRS) spectral imaging (Conference Presentation)

    Science.gov (United States)

    Lu, Fa-Ke F.; Calligaris, David; Suo, Yuanzhen; Santagata, Sandro; Golby, Alexandra J.; Xie, X. Sunney; Mallory, Melissa A.; Golshan, Mehra; Dillon, Deborah A.; Agar, Nathalie Y. R.

    2017-02-01

    Stimulated Raman scattering (SRS) microscopy has been used for rapid label-free imaging of various biomolecules and drugs in living cells and tissues (Science, doi:10.1126/science.aaa8870). Our recent work has demonstrated that lipid and protein mapping of cancer tissue renders pathology-like images, providing essential histopathological information with subcellular resolution of the entire specimen (Cancer Research, doi: 10.1158/0008-5472.CAN-16-027). We have also established the first SRS imaging Atlas of human brain tumors (Harvard Dataverse, doi: (doi:10.7910/DVN/EZW4EK). SRS imaging of tissue could provide invaluable information for cancer diagnosis and surgical guidance in two aspects: rapid surgical pathology and quantitative biomolecular characterization. In this work, we present the use of SRS microscopy for characterization of a few essential biomolecules in breast cancer. Human breast cancer tissue specimens at the tumor core, tumor margin and normal area (5 cm away from the tumor) from surgical cases will be imaged with SRS at multiple Raman shifts, including the peaks for lipid, protein, blood (absorption), collagen, microcalcification (calcium phosphates and calcium oxalate) and carotenoids. Most of these Raman shifts have relatively strong Raman cross sections, which ensures high-quality and fast imaging. This proof-of-principle study is sought to demonstrate the feasibility and potential of SRS imaging for ambient diagnosis and surgical guidance of breast cancer.

  17. Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

    Directory of Open Access Journals (Sweden)

    G. T. Yakhyaeva

    2016-01-01

    Full Text Available Frequent bone fractures in infancy require the elimination of a large number (> 100 of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56% patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28% — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17% patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases.

  18. Jatropha tissue culture: A critical review on present scenario and future prospects

    KAUST Repository

    Kumar, Nitish

    2012-10-26

    Ever increasing fuel prices and depletion of fossil reserves have ignited worldwide search for alternative renewable energy sources. Development of biofuels as an alternative and renewable source of energy has become critical in the national efforts towards maximum self-reliance, the corner stone of our energy security strategy. Ever since it was established that Jatropha methyl esters yields biodiesel of an exceptional quality and easy adaptation to semi-arid marginal lands, there has been a surge of interest in biodiesel miracle tree. Large scale cultivation remains the single most important factor that will ultimately determine the success of Jatropha curcas as a source of biofuel. Non-availability of superior clones/varieties, shortage of cuttings, low multiplication rate, gaps in knowledge of clonal technology, higher cost of clonal plantation, etc. are the major factors that limit large-scale cultivation. Recent advances in DNA technology and genetic transformation offer a credible approach for the genetic improvement of the species. The last decade witnessed a blooming interest in the development of micropropagation and transformation techniques for this energy crop. In this review, the achievements made during the last three decades in J. curcas micropropagation are presented. © Springer Science+Business Media New York 2013. All rights are reserved.

  19. Intravenous iloprost in the combination therapy of vascular disorders in patients with systemic connective tissue diseases

    Directory of Open Access Journals (Sweden)

    Aleksandr Vitalyevich Volkov

    2013-01-01

    Full Text Available Systemic connective tissue diseases, systemic scleroderma in particular, constitute a group of diseases in which vascular disorders underlying diverse clinical manifestations are one of the pathogenetic components. Raynaud 's syndrome and ulceration are the most common symptoms of these diseases, which influence quality of life in patients and require constant drug therapy. The paper discusses the authors' clinical experience with intravenous iloprost used in the combination therapy of the vascular manifestations of systemic scleroderma and systemic lupus erythematosus.

  20. Comparison of peri-implant and periodontal marginal soft tissues in health and disease.

    Science.gov (United States)

    Ivanovski, Saso; Lee, Ryan

    2018-02-01

    The integrity of the peri-implant soft-tissue seal is crucial for maintaining peri-implant tissue health. Whilst the transmucosal component of the restored implant shares some common features with teeth, namely the presence of a junctional epithelium and a connective tissue component, there are some important differences. A key difference is the nature of the relationship of the connective tissue with the implant surface, whereby there is 'adaptation' of collagen fibers in a parallel orientation in relation to the implant, but insertion of fiber attachment perpendicularly into cementum in the case of teeth. This, combined with reduced cellularity and vascularity in the peri-implant connective tissue, may make implants more susceptible to disease initiation and progression. Furthermore, the presence of a subgingival connection between the implant and the abutment/restoration poses some specific challenges, and maintaining the integrity of this connection is important in preserving peri-implant tissue health. Implant design features, such as the nature of the connection between the implant and the abutment, as well as the surface characteristics of the abutment and implants, may influence the maintenance of the integrity of soft tissue around implants. Iatrogenic factors, such as incorrect seating of the abutment and/or the restoration, and the presence of residual subgingival cement, will lead to loss of soft-tissue integrity and hence predispose to peri-implant disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Advanced sickle cell associated interstitial lung disease presenting with cor pulmonale in a Nigerian.

    Science.gov (United States)

    Fawibe, Ademola Emmanuel; Kolo, Philip Manman; Ogunmodede, James Ayodele; Desalu, Olufemi Olumuyiwa; Salami, Kazeem Alakija

    2012-04-01

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by pulmonary hypertension and cor pulmonale.

  2. Proteomic Analysis of Disease Stratified Human Pancreas Tissue Indicates Unique Signature of Type 1 Diabetes.

    Directory of Open Access Journals (Sweden)

    Tanya C Burch

    Full Text Available Type 1 diabetes (T1D and type 2 diabetes (T2D are associated with functional beta cell loss due to ongoing inflammation. Despite shared similarities, T1D is an autoimmune disease with evidence of autoantibody production, as well as a role for exocrine pancreas involvement. Our hypothesis is that differential protein expression occurs in disease stratified pancreas tissues and regulated proteins from endocrine and exocrine tissues are potential markers of disease and potential therapeutic targets. The study objective was to identify novel proteins that distinguish the pancreas from donors with T1D from the pancreas from patients with T2D, or autoantibody positive non-diabetic donors. Detailed quantitative comprehensive proteomic analysis was applied to snap frozen human pancreatic tissue lysates from organ donors without diabetes, with T1D-associated autoantibodies in the absence of diabetes, with T1D, or with T2D. These disease-stratified human pancreas tissues contain exocrine and endocrine tissues (with dysfunctional islets in the same microenvironment. The expression profiles of several of the proteins were further verified by western blot. We identified protein panels that are significantly and uniquely upregulated in the three disease-stratified pancreas tissues compared to non-disease control tissues. These proteins are involved in inflammation, metabolic regulation, and autoimmunity, all of which are pathways linked to, and likely involved in, T1 and T2 diabetes pathogenesis. Several new proteins were differentially upregulated in prediabetic, T1D, and T2D pancreas. The results identify proteins that could serve as novel prognostic, diagnostic, and therapeutic tools to preserve functional islet mass in Type 1 Diabetes.

  3. The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases.

    Science.gov (United States)

    Flåm, Siri Tennebø; Gunnarsson, Ragnar; Garen, Torhild; Lie, Benedicte Alexandra; Molberg, Øyvind

    2015-03-01

    The Norwegian nationwide MCTD cohort was established to obtain unbiased data on key disease issues, and thereby reappraise the concept of MCTD. In the current study, the aims were to obtain detailed HLA profile data on the large Norwegian MCTD cohort and compare these with the HLA profiles of ethnically matched healthy controls and related CTD controls. HLA profiles, determined by sequence-based typing of HLA-B* and DRB1*, were compared between four control groups of Norwegian ancestry, SLE (n = 96), SSc (n = 95), PM/DM (n = 84), healthy individuals (n = 282), the complete MCTD cohort (n = 155) and MCTD subsets defined by key clinical parameters. HLA-B*08 [odds ratio (OR) 2.05, P = 1.31 × 10(-4)) and DRB1*04:01 (OR 2.82, P = 3.64 × 10(-8)) were identified as risk alleles for MCTD, while DRB1*04:04, DRB1*13:01 and DRB1*13:02 were protective. Risk alleles for SLE and PM/DM were B*08 and DRB1*03:01. SSc risk was associated with DRB1*08:01. Analyses of MCTD subsets identified B*18 [OR 3.32 (95% CI 1.38, 8.01)] and DRB1*03:01 [OR 1.83 (95% CI 1.03, 3.25)] as independent risk factors for lung fibrosis. Novel HLA alleles associated with MCTD and disease subsets were identified and DRB1*04:01 was confirmed as a major risk allele. Altogether, the data reinforce the notion of MCTD as a disease entity distinct from SLE, SSc and PM/DM. © The Author 2014. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. Periostin in Skin Tissue Skin-Related Diseases

    Directory of Open Access Journals (Sweden)

    Yukie Yamaguchi

    2014-01-01

    Recently, periostin—a matricellular protein—has been highlighted for its pivotal functions in the skin. Analysis of periostin null mice has revealed that periostin contributes to collagen fibrillogenesis, collagen cross-linking, and the formation of ECM meshwork via interactions with other ECM components. Periostin expression is enhanced by mechanical stress or skin injury; this is indicative of the physiologically protective functions of periostin, which promotes wound repair by acting on keratinocytes and fibroblasts. Along with its physiological functions, periostin plays pathogenic roles in skin fibrosis and chronic allergic inflammation. In systemic sclerosis (SSc patients, periostin levels reflect the severity of skin fibrosis. Periostin null mice have shown reduced skin fibrosis in a bleomycin-induced SSc mouse model, indicating a key role of periostin in fibrosis. Moreover, in atopic dermatitis (AD, attenuated AD phenotype has been observed in periostin null mice in a house dust mite extract-induced AD mouse model. Th2 cytokine-induced periostin acts on keratinocytes to produce inflammatory cytokines that further enhance the Th2 response, thereby sustaining and amplifying chronic allergic inflammation. Thus, periostin is deeply involved in the pathogenesis of AD and other inflammation-related disorders affecting the skin. Understanding the dynamic actions of periostin would be key to dissecting pathogenesis of skin-related diseases and to developing novel therapeutic strategies.

  5. Celiac Disease Presenting with Peripheral Neuropathy in Children: A Case Report.

    Science.gov (United States)

    Pacitto, Alessandra; Paglino, Alessandra; Di Genova, Lorenza; Leonardi, Alberto; Farinelli, Edoardo; Principi, Nicola; di Cara, Giuseppe; Esposito, Susanna

    2017-07-14

    Background: Clinically relevant neurological manifestations in children with celiac disease (CD) are unusual, especially when they are considered as signs of the onset of the disease. In this paper, a case of Guillain-Barrè syndrome (GBS) as the first manifestation of CD in a 23-month-old child is reported. Case presentation: We describe a case of CD onset with peripheral neuropathy in a 23-month-old Bulgarian boy presenting with a sudden refusal to walk and absence of deep tendon reflexes in both lower limbs. Neurological symptoms were preceded by two months of gastrointestinal symptoms such as vomiting, abdominal distention, and clear signs of malnutrition and weight loss. When we evaluated the child six months after the onset of the symptoms, clinical and laboratory findings showed clear signs of peripheral neuropathy associated with malnutrition. Serum deamidated gliadin and tissue transglutaminase antibodies were therefore measured. The anti-gliadin levels were more than sixteen times higher than normal and the IgA anti-transglutaminase levels were four times higher than normal. Anti-endomysium antibodies were positive, and human leukocyte antigens (HLA) II typing confirmed a genetic predisposition to CD (DQ2 positive and DQ8 negative). Given the association between the clinical evidence of the disease and the results of the celiac screening tests, a diagnosis of CD was made without biopsy confirmation of the enteropathy. The child began a restricted gluten-free diet that led to complete recovery of the peripheral neuropathy, walking, reflexes, and overall improvement after three months on the diet. Conclusion: Our case underlines the rare but possible associations between CD and peripheral neuropathy in children as an onset symptom, even in the absence of gastrointestinal manifestations, thus suggesting that CD should always be considered in the differential diagnosis of peripheral neuropathy in children. A good knowledge of the extra

  6. Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease

    OpenAIRE

    McNamara, Erin R.; Sullivan, Jennifer; Nagaraj, Shashi K.; Wiener, John S.; Kishnani, Priya S.

    2014-01-01

    Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and...

  7. Maternal celiac disease autoantibodies bind directly to syncytiotrophoblast and inhibit placental tissue transglutaminase activity

    Directory of Open Access Journals (Sweden)

    Robinson Nicola J

    2009-02-01

    Full Text Available Abstract Background Celiac disease (CD occurs in as many as 1 in 80 pregnant women and is associated with poor pregnancy outcome, but it is not known if this is an effect on maternal nutrient absorption or, alternatively, if the placenta is an autoimmune target. The major autoantigen, tissue transglutaminase (tTG, has previously been shown to be present in the maternal-facing syncytiotrophoblast plasma membrane of the placenta. Methods ELISA was used to demonstrate the presence of antibodies to tissue transglutaminase in a panel of CD sera. Immunohistochemistry was used to evaluate the binding of IgA autoantibodies from CD serum to term placenta. In addition, novel direct binding and activity assays were developed to mimic the in vivo exposure of the villous placenta to maternal autoantibody. Results and Discussion CD IgA autoantibodies located to the syncytial surface of the placenta significantly more than IgA antibodies in control sera (P Conclusion These data indicate that direct immune effects in untreated CD women may compromise placental function.

  8. Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease.

    Science.gov (United States)

    Abu Omar, Mohannad; Tylski, Emily; Abu Ghanimeh, Mouhanna; Gohar, Ashraf

    2016-09-26

    Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward. 2016 BMJ Publishing Group Ltd.

  9. Terahertz spectroscopy of brain tissue from a mouse model of Alzheimer's disease

    Science.gov (United States)

    Shi, Lingyan; Shumyatsky, Pavel; Rodríguez-Contreras, Adrián; Alfano, Robert

    2016-01-01

    The terahertz (THz) absorption and index of refraction of brain tissues from a mouse model of Alzheimer's disease (AD) and a control wild-type (normal) mouse were compared using THz time-domain spectroscopy (THz-TDS). Three dominating absorption peaks associated to torsional-vibrational modes were observed in AD tissue, at about 1.44, 1.8, and 2.114 THz, closer to the peaks of free tryptophan molecules than in normal tissue. A possible reason is that there is more free tryptophan in AD brain tissue, while in normal brain tissue more tryptophan is attached to other molecules. Our study suggests that THz-absorption modes may be used as an AD biomarker fingerprint in brain, and that THz-TDS is a promising technique for early diagnosis of AD.

  10. An alarming presentation of Creutzfeldt-Jakob disease following a self-inflicted gunshot wound to the head.

    Science.gov (United States)

    Harnish, Carissa; Gross, Brian; Rittenhouse, Katelyn; Bupp, Katherine; Vellucci, Ashley; Anderson, Jeffrey; Riley, Deborah; Rogers, Frederick B

    2015-05-01

    Transmissible spongiform encephalopathies (TSE), also known as prion diseases, are characterized by rapid and fatal neurological decline. They not only detrimentally affect the patient, but also present additional challenges to healthcare systems due to the infectivity of the tissues and the difficulty of inactivating the prion. The most common TSE is Creutzfeldt-Jakob disease (CJD), which can occur after familial, spontaneous or acquired transmission. TSEs received more attention after the development of variant CJD (vCJD), also known as Mad Cow Disease, in the UK during the mid-1990s. Unlike familial or spontaneous CJD, this variant was connected to consumption of cattle contaminated with the prion disease, bovine spongiform encephalopathy.This development increased interest in the etiology of CJD and other TSEs and the risk it presents as an infectious disease. The following details the case of a 59-year-old male infected with CJD presented to our level II trauma center for treatment following a self-inflicted gunshot wound to the head. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. Selective reactivation of human herpesvirus 6 in patients with autoimmune connective tissue diseases.

    Science.gov (United States)

    Broccolo, Francesco; Drago, Francesco; Cassina, Giulia; Fava, Andrea; Fusetti, Lisa; Matteoli, Barbara; Ceccherini-Nelli, Luca; Sabbadini, Maria Grazia; Lusso, Paolo; Parodi, Aurora; Malnati, Mauro S

    2013-11-01

    Viral infections have been associated with autoimmune connective tissue diseases. To evaluate whether active infection by Epstein-Barr virus (EBV), cytomegalovirus (CMV), human herpesvirus (HHV)-6, -7, -8, as well as parvovirus B19 (B19V) occur in patients with autoimmune connective tissue diseases, viral DNA loads were assessed in paired samples of serum and peripheral blood mononuclear cells (PBMCs) of 115 patients affected by different disorders, including systemic sclerosis, systemic, and discoid lupus erythematosus, rheumatoid arthritis, and dermatomyositis. Two additional groups, patients affected by inflammatory diseases (n=51) and healthy subjects (n=58) were studied as controls. The titers of anti-HHV-6 and anti-EBV antibodies were also evaluated. Cell-free HHV-6 serum viremia was detected in a significantly higher proportion of connective tissue diseases patients compared to controls (P<0.0002); a significant association between HHV-6 reactivation and the active disease state was found only for lupus erythematosus (P=0.021). By contrast, the rate of cell-free EBV viremia was similar in patients and controls groups. Cell-free CMV, HHV-8, and B19V viremia was not detected in any subject. Anti-HHV-6 and anti-EBV early antigen IgG titers were both significantly higher in autoimmune diseases patients as compared to healthy controls, although they were not associated with the presence of viremia. EBV, HHV-6, -7 prevalence and viral load in PBMCs of patients with connective tissue diseases and controls were similar. These data suggest that HHV-6 may act as a pathogenic factor predisposing patients to the development of autoimmune connective tissue diseases or, conversely, that these disorders may predispose patients to HHV-6 reactivation. © 2013 Wiley Periodicals, Inc.

  12. Nrf2 as a master regulator of tissue damage control and disease tolerance to infection.

    Science.gov (United States)

    Soares, Miguel P; Ribeiro, Ana M

    2015-08-01

    Damage control refers to those actions made towards minimizing damage or loss. Depending on the context, these can range from emergency procedures dealing with the sinking of a ship or to a surgery dealing with severe trauma or even to an imaginary company in Marvel comics, which repairs damaged property arising from conflicts between super heroes and villains. In the context of host microbe interactions, tissue damage control refers to an adaptive response that limits the extent of tissue damage associated with infection. Tissue damage control can limit the severity of infectious diseases without interfering with pathogen burden, conferring disease tolerance to infection. This contrasts with immune-driven resistance mechanisms, which although essential to protect the host from infection, can impose tissue damage to host parenchyma tissues. This damaging effect is countered by stress responses that confer tissue damage control and disease tolerance to infection. Here we discuss how the stress response regulated by the transcription factor nuclear factor-erythroid 2-related factor 2 (Nrf2) acts in such a manner. © 2015 Authors.

  13. MUC Expression in Gallbladder Epithelial Tissues in Cholesterol-Associated Gallbladder Disease

    Science.gov (United States)

    Yoo, Kyo-Sang; Choi, Ho Soon; Jun, Dae Won; Lee, Hang Lak; Lee, Oh Young; Yoon, Byung Chul; Lee, Kyeong Geun; Paik, Seung Sam; Kim, Yong Seok; Lee, Jin

    2016-01-01

    Background/Aims Gallstone pathogenesis is linked to mucin hypersecretion and bacterial infection. Several mucin genes have been identified in gallbladder epithelial cells (GBECs). We investigated MUC expression in cholesterol-associated gallbladder disease and evaluated the relationship between mucin and bacterial infection. Methods The present study involved 20 patients with cholesterol stones with cholecystitis, five with cholesterol stones with cholesterolosis, six with cholesterol polyps, two with gallbladder cancer, and six controls. Canine GBECs treated with lipopolysaccharide were also studied. MUC3, MUC5AC, MUC5B, and MUC6 antibodies were used for dot/slot immunoblotting and immunohistochemical studies of the gallbladder epithelial tissues, canine GBECs, and bile. Reverse-transcription polymerase chain reaction was performed to evaluate MUC3 and MUC5B expression. Results MUC3, MUC5AC, MUC5B, and MUC6 were expressed in the normal gallbladder epithelium, and of those, MUC3 and MUC5B exhibited the highest expression levels. Greatly increased levels of MUC3 and MUC5B expression were observed in the cholesterol stone group, and slightly increased levels were observed in the cholesterol polyp group; MUC3 and MUC5B mRNA was also upregulated in those groups. Canine GBECs treated with lipopolysaccharide also showed upregulation of MUC3 and MUC5B. Conclusions The mucin genes with the highest expression levels in gallbladder tissue in cholesterol-associated diseases were MUC3 and MUC5B. Cholesterol stones and gallbladder infections were associated with increased MUC3 and MUC5B expression. PMID:27563024

  14. Intestinal tissue transglutaminase in coeliac disease of children and adults: ultrastructural localization and variation in expression.

    Science.gov (United States)

    Skovbjerg, H; Hansen, G H; Niels-Christiansen, L L; Anthonsen, D; Ascher, H; Midhagen, G; Hallert, C; Norén, O; Sjöström, H

    2004-12-01

    Tissue transglutaminase is the main antigen for the anti-endomysial antibodies used for diagnosis of coeliac disease and can with some specificity in vitro deamidate gliadins generating potent epitopes. The intestinal levels and the ultrastructural localization of tissue transglutaminase in normal and affected persons were investigated to provide further information on its role in this disease. Intestinal biopsies were taken from normal and coeliac children and adults. The level of transglutaminase was analysed by means of a quantitative enzymatic assay and its ultrastructural localization by immunogold electronmicroscopy using a monoclonal antibody against tissue transglutaminase. In relation to normal individuals, the enzymatic activity of tissue transglutaminase in adult coeliac patients was increased. The enzyme was found in the enterocytes and in increased amount just beneath the enterocytes, where cytosolic and nuclear labelling of distinct elongated cells was seen in addition to extracellular labelling close to collagen fibrils. In children, the enzymatic activity and the immunogold labelling could not be shown to be related to disease. In all cases the enzyme activity was EDTA-sensitive. The increased amount of tissue transglutaminase activity in coeliac adults was shown to be due to the appearance of the enzyme in enterocytes and increased expression in the lamina propria. No evidence was found to support the idea of a changed localization or changed amounts as primary elements in coeliac disease pathogenesis, nor for the involvement of non-calcium dependent microbial transglutaminases.

  15. A myeloperoxidase precursor, pro-myeloperoxidase, is present in human plasma and elevated in cardiovascular disease patients.

    Science.gov (United States)

    Khalilova, Irada S; Dickerhof, Nina; Mocatta, Tessa J; Bhagra, Catriona J; McClean, Dougal R; Obinger, Christian; Kettle, Anthony J

    2018-01-01

    Myeloperoxidase (MPO)-derived oxidants have emerged as a key contributor to tissue damage in inflammatory conditions such as cardiovascular disease. Pro-myeloperoxidase (pro-MPO), an enzymatically active precursor of myeloperoxidase (MPO), is known to be secreted from cultured bone marrow and promyelocytic leukemia cells, but evidence for the presence of pro-MPO in circulation is lacking. In the present study, we used a LC-MS/MS in addition to immunoblot analyses to show that pro-MPO is present in human blood plasma. Furthermore, we found that pro-MPO was more frequently detected in plasma from patients with myocardial infarction compared to plasma from control donors. Our study suggests that in addition to mature MPO, circulating pro-MPO may cause oxidative modifications of proteins thereby contributing to cardiovascular disease.

  16. Precision Medicine Approaches to Diabetic Kidney Disease: Tissue as an Issue.

    Science.gov (United States)

    Gluck, Caroline; Ko, Yi-An; Susztak, Katalin

    2017-05-01

    Precision medicine approaches, that tailor medications to specific individuals has made paradigm-shifting improvements for patients with certain cancer types. Such approaches, however, have not been implemented for patients with diabetic kidney disease. Precision medicine could offer new avenues for novel diagnostic, prognostic and targeted therapeutics development. Genetic studies associated with multiscalar omics datasets from tissue and cell types of interest of well-characterized cohorts are needed to change the current paradigm. In this review, we will discuss precision medicine approaches that the nephrology community can take to analyze tissue samples to develop new therapeutics for patients with diabetic kidney disease.

  17. Constitutive expression of a costimulatory ligand on antigen-presenting cells in the nervous system drives demyelinating disease

    DEFF Research Database (Denmark)

    Zehntner, Simone P; Brisebois, Marcel; Tran, Elise

    2003-01-01

    that transgenic mice constitutively expressing the costimulatory ligand B7.2/CD86 on microglia in the central nervous system (CNS) and on related cells in the proximal peripheral nervous tissue spontaneously develop autoimmune demyelinating disease. Disease-affected nervous tissue in transgenic mice showed...... recipients but not into non-transgenic recipients. These data provide evidence that B7/CD28 interactions within the nervous tissue are critical determinants of disease development. Our findings have important implications for understanding the etiology of nervous system autoimmune diseases such as multiple...

  18. Neutron activation analysis of the central nervous system tissues in neurological diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yasui, Masayuki; Ota, Kiichiro [Wakayama Medical Coll. (Japan); Sasajima, Kazuhisa

    1994-07-01

    As the diseases due to excessive metals in living bodies and the metals of their causes, Minamata disease due to Hg, itai-itai disease due to Cd, dialysis brain disease due to Al, hemochromatosis due to Fe, Wilson disease due to Cu and so on have been known. Also as the neural diseases, in which the possibility that metals take part in them is presumed, there are amyotrophic lateral sclerosis, Alzheimer disease, Parkinson disease, Parkinsonism dementia and so on. In order to know the causes of the diseases due to excessive metals in living bodies and neurological diseases, the authors have measured Cu, Ca, Al, Mn, Zn and Fe in central nervous system tissues by activation analysis nondestructive method. The cases investigated were 4 cases of hepatocerebral diseases, 6 cases of ALS, 4 cases of Parkinson disease, 4 cases of Parkinsonism dementia, 4 cases of multiple sclerosis and 5 cases without CNS disease for the control. The method of measurement is described. The results for respective diseases are reported. Cu and Fe are in the relation of mirror images, and Cu formed Cu-superoxide dismutase (SOD) similarly to Zn and Mn as SOD carrier metals, and protects living bodies and CNS from oxidative stress. (K.I.).

  19. Huntington disease: a case study of early onset presenting as depression.

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-10-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

  20. Castleman s Disease with an Unusual Radiological Presentation: A Case Report

    Directory of Open Access Journals (Sweden)

    Nesrin Ocal

    2014-02-01

    Full Text Available Castleman%u2019s disease is a rare lymphoproliferative pathology which has two clinicoradiological forms; localized disease and disseminated disease. Histopathologically, Castleman%u2019s disease is evaluated in three groups; hyaline-vascular type, plasma cell type and mixed type. Patients are often asymptomatic and are diagnosed by radiological findings. The most common radiological presentation is huge lymph nodes in mediastinal area. Lymphadenopathy is most frequently observed in paratracheal lymph nodes. We wanted to emphasize this very rare entity and remind you this disease by the mean of a case with different radiological appearance.

  1. Creutzfeldt-Jacob’s Disease Presenting with Psychiatric Symptomsand Severe Itching

    Directory of Open Access Journals (Sweden)

    Emine Rabia Koç

    2013-03-01

    Full Text Available Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disease that is characterized by the accumulation of abnormal prion-like proteins in the central nervous system. Clinical features, electroencephalography, brain magnetic resonance imaging and protein 14.3.3 is useful in diagnosis. Protein 14.3.3 may be negative in the early or late stages of the disease. Presentation with psychiatric symptoms and itching is not typical in the beginning of the disease In this paper, we present a patient who was first accepted to the pschiatry ward because of his psychiatric symtpoms and had severe itching, resistant to antihistaminic drugs

  2. Longitudinal analysis of quality of life in patients with undifferentiated connective tissue diseases

    Directory of Open Access Journals (Sweden)

    Iudici M

    2017-02-01

    Full Text Available Michele Iudici, Rosaria Irace, Antonella Riccardi, Giovanna Cuomo, Serena Vettori, Gabriele Valentini Rheumatology Section, Department of Clinical and Experimental Medicine, Second University of Naples, Naples, Italy Introduction/objectives: To prospectively assess the quality of life (QoL of patients affected by undifferentiated connective tissue diseases (UCTDs and to identify factors associated with changes over time.Patients and methods: A total of 46 consecutive UCTD patients completed the Short-Form 36 (SF-36 questionnaire at presentation and then yearly. At each 6-month visit, all patients underwent a detailed history taking and a laboratory and physical assessment, in order to follow the evolution of the disease over time and to assess the the co-existence of fibromyalgia.Results: At presentation, scores lower than the average of the general population were detected in 34 (74% and 41 (89% patients in the physical and mental domains, respectively. No difference between patients with and without Raynaud’s phenomenon was detected. Fibromyalgia was the only independent variable associated with an impaired physical component summary score (p = 0.0009. No patient feature was found to be associated with the basal mental component summary score. During 24 months of follow-up, a significant improvement (ie, a change ≥5 from baseline in physical component summary and mental component summary scores was observed in 14 (33.3% and 20 (43.4% patients, respectively. Patients who significantly improved in the physical domain more frequently had a history of glucocorticoids intake (p < 0.001, while those who improved in the mental component more frequently had a history of either glucocorticoids (p = 0.043 or immunosuppressors (p = 0.037 intake during follow-up.Conclusion: UCTD patients perceive a worse QoL, regardless of Raynaud’s phenomenon Fibromyalgia is one of the major contributors of physical QoL, whereas no factor influencing

  3. Spasmodic muscle cramps and weakness as presenting symptoms in Wilson disease.

    Science.gov (United States)

    Rosen, John M; Kuntz, Nancy; Melin-Aldana, Hector; Bass, Lee M

    2013-10-01

    Wilson disease (WD) is an autosomal-recessive disorder of hepatic copper metabolism that has tremendous variability in its presentation. Phenotypic diversity of the disease can lead to delayed diagnosis. We describe a case of WD in a 10-year-old boy presenting with 3 months of increasingly intense, spasmodic lower extremity muscle cramps. Physical examination revealed tenderness on calf palpation and dark flat lesions over his ankles, knees, and elbows. Initial testing revealed creatine kinase of 302 IU/L (normal 24-248 IU/L), hemoglobin of 8.9 g/dL (11.5-15.5 g/dL), aspartate aminotransferase of 114 IU/L (16-52 IU/L), alanine aminotransferase of 54 IU/L (2-30 IU/L), and myoglobinuria. Extensive evaluation of his myopathy, including MRI and muscle biopsy, was negative. Additional laboratory tests revealed a prothrombin time of 21.3 seconds (11.8-15.5 seconds), total bilirubin of 1.4 mg/dL (<1 mg/dL), direct bilirubin of 0.5 mg/dL (<0.3 mg/dL), albumin of 2.1 g/dL (3.1-4.6 g/dL), a reticulocyte percentage of 4.5% (0.5%-2.5%), a negative Coombs direct antibody test, ceruloplasmin of 3 mg/dL (21-51 mg/dL), and 24-h urine copper of 393 μg/24 h (15-60 μg/24 h). Liver biopsy showed patchy advanced fibrosis, mild inflammation, positive staining for copper, and a tissue copper concentration of 768 µg/g (10-35 μg/g). Brain MRI revealed symmetric intrinsic T1 shortening within bilateral basal ganglia. Trientene therapy was initiated for WD. Symptoms and laboratory abnormalities resolved and remain normal at 21 months' follow-up. Musculoskeletal involvement in WD is uncommon and typically defined as bone demineralization, arthropathy, or hypokalemic muscle weakness. In patients with unexplained musculoskeletal symptoms and hepatic abnormalities, a diagnosis of WD should be considered and appropriate evaluation initiated.

  4. Kinetics of mycolactone in human subcutaneous tissue during antibiotic therapy for Mycobacterium ulcerans disease.

    Science.gov (United States)

    Sarfo, Fred S; Phillips, Richard O; Zhang, Jihui; Abass, Mohammed K; Abotsi, Justice; Amoako, Yaw A; Adu-Sarkodie, Yaw; Robinson, Clive; Wansbrough-Jones, Mark H

    2014-04-15

    Mycobacterium ulcerans (M. ulcerans) causes a devastating necrotising infection of skin tissue leading to progressive ulceration. M. ulcerans is the only human pathogen that secretes mycolactone, a polyketide molecule with potent cytotoxic and immunomodulatory properties. These unique features make mycolactone an attractive biomarker for M. ulcerans disease. We sought to measure the concentration of mycolactone within lesions of patients with Buruli ulcer before, during and after antibiotic treatment to evaluate its association with the clinical and bacteriological response to therapy. Biopsies of M. ulcerans infected skin lesions were obtained from patients before, during and after antibiotic therapy. Lipids were extracted from the biopsies and concentration of mycolactone was assayed by mass spectrometry and a cytotoxicity assay and correlated with clinical and bacteriological response to therapy. Baseline concentration of mycolactone measured by mass spectrometry predicted time to complete healing of small nodules and ulcers. Even though intra-lesional concentrations of mycolactone declined with antibiotic treatment, the toxin was still present after antibiotic treatment for 6 weeks and also 4 weeks after the end of treatment for 8 weeks in a subgroup of patients with slowly healing lesions. Additionally viable bacilli were detected in a proportion of these slowly healing lesions during and after treatment. Our findings indicate that baseline intra-lesional mycolactone concentration and its kinetics with antibiotic therapy are important prognostic determinants of clinical and bacteriological response to antibiotic treatment for Mycobacterium ulcerans disease. Mycolactone may be a useful biomarker with potential utility in optimising antibiotic therapy.

  5. Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease

    OpenAIRE

    Chaudhary, Sanjay; Qian, Qi

    2012-01-01

    We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be ...

  6. Morphometric assessment of periodontal tissues in relation to periodontal disease in dogs.

    Science.gov (United States)

    Kyllar, Michal; Doskarova, Barbora; Paral, Vaclav

    2013-01-01

    Dimensions of periodontal tissues are thought to predispose to the development of periodontal disease in man and dogs. Several studies have suggested that thin gingiva correlates with an increased incidence of periodontal disease. In this study, we hypothesized that the dimensions of periodontal tissues will vary in different breeds of dogs and could possibly correlate with the incidence of periodontal disease. Forty-two jaws of dogs aged up to 5-years were examined post-mortem and gingival and alveolar bone thickness were measured using methods of transgingival probing and digital calipers, respectively. Dogs were divided into three groups based on their body weight. Group I (dogs compared with small and medium-sized breed dogs. Both gingival and alveolar bone dimensions may be predictors for severity of periodontal disease and influence clinical outcome in certain periodontal surgical procedures.

  7. Increased tissue concentration of neuropeptide Y in the duodenal mucosa in coeliac disease

    Energy Technology Data Exchange (ETDEWEB)

    Sjoelund, K.; Ekman, R. (Lund Univ. (Sweden))

    1989-01-01

    Neuropeptide Y (NPY) is localized to intestinal nerve fibres, of which there are few in normal duodenal mucosa. In the duodenal mucosa of 10 patients with coeliac disease and in a control group of 21 patients with other gastrointestinal symptoms, but with normal function of the small intestine, we studied the frequency of such fibres by immunohistochemistry and the tissue concentration of NPY by radioimmunoassay. Patients with coeliac disease had an increased number of NPY nerve fibres and significantly elevated tissue concentrations compared with the control group. The eluted fractions obtained by high-pressure liquid chromatography of duodenal extracts showed the same immunoreactive components in the two groups. This study therefore suggested proliferation of the peptide-containing nerve system in coeliac disease. The increased NPY levels in the duodenal mucosa may be of functional significance for the disease symptoms. 24 refs.

  8. Peripheral Tissue Involvement in Sporadic, Iatrogenic, and Variant Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Head, Mark W.; Ritchie, Diane; Smith, Nadine; McLoughlin, Victoria; Nailon, William; Samad, Sazia; Masson, Stephen; Bishop, Matthew; McCardle, Linda; Ironside, James W.

    2004-01-01

    Human prion diseases are rare fatal neurodegenerative conditions that occur as acquired, familial, or idiopathic disorders. A key event in their pathogenesis is the accumulation of an altered form of the prion protein, termed PrPSc, in the central nervous system. A novel acquired human prion disease, variant Creutzfeldt-Jakob disease, is thought to result from oral exposure to the bovine spongiform encephalopathy agent. This disease differs from other human prion diseases in its neurological, neuropathological, and biochemical phenotype. We have used immunohistochemistry and Western blot techniques to analyze the tissue distribution and biochemical properties of PrPSc in peripheral tissues in a unique series of nine cases of variant Creutzfeldt-Jakob disease. We have compared this with the distribution and biochemical forms found in all of the major subtypes of sporadic Creutzfeldt-Jakob disease and in a case of iatrogenic Creutzfeldt-Jakob disease associated with growth hormone therapy. The results show that involvement of the lymphoreticular system is a defining feature of variant Creutzfeldt-Jakob disease, but that the biochemical isoform of PrPSc found is influenced by the cell type in which it accumulates. PMID:14695328

  9. Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease

    Directory of Open Access Journals (Sweden)

    Banshi Lal Kumawat

    2015-01-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness. Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.

  10. Tissue Tropism in Host Transcriptional Response to Members of the Bovine Respiratory Disease Complex.

    Science.gov (United States)

    Behura, Susanta K; Tizioto, Polyana C; Kim, JaeWoo; Grupioni, Natalia V; Seabury, Christopher M; Schnabel, Robert D; Gershwin, Laurel J; Van Eenennaam, Alison L; Toaff-Rosenstein, Rachel; Neibergs, Holly L; Regitano, Luciana C A; Taylor, Jeremy F

    2017-12-20

    Bovine respiratory disease (BRD) is the most common infectious disease of beef and dairy cattle and is characterized by a complex infectious etiology that includes a variety of viral and bacterial pathogens. We examined the global changes in mRNA abundance in healthy lung and lung lesions and in the lymphoid tissues bronchial lymph node, retropharyngeal lymph node, nasopharyngeal lymph node and pharyngeal tonsil collected at the peak of clinical disease from beef cattle experimentally challenged with either bovine respiratory syncytial virus, infectious bovine rhinotracheitis, bovine viral diarrhea virus, Mannheimia haemolytica or Mycoplasma bovis. We identified signatures of tissue-specific transcriptional responses indicative of tropism in the coordination of host's immune tissue responses to infection by viral or bacterial infections. Furthermore, our study shows that this tissue tropism in host transcriptional response to BRD pathogens results in the activation of different networks of response genes. The differential crosstalk among genes expressed in lymphoid tissues was predicted to be orchestrated by specific immune genes that act as 'key players' within expression networks. The results of this study serve as a basis for the development of innovative therapeutic strategies and for the selection of cattle with enhanced resistance to BRD.

  11. Recurrent Iliofemoral Venous Thrombosis in the Setting of May-Thurner Syndrome as the Presenting Symptom of Behcet's Disease.

    Science.gov (United States)

    Lakha, Sameer; Png, Chien Yi Maximilian; Chun, Kevin; Ting, Windsor

    2018-02-23

    Vascular manifestations including pulmonary artery aneurysms and venous thrombosis are seen in up to 14% of patients with Behcet's disease. We report a patient who had recurrent deep vein thrombosis (DVT) as the presenting symptom of Behcet's Disease. A 19-year-old male who presented with acute iliofemoral DVT, confirmed by intravascular ultrasound (IVUS) and venogram. May-Thurner syndrome was also observed. Repeated catheter-based pharmacomechanical thrombolysis, thrombectomy, and subsequent iliac vein stenting were performed. The patient was then discharged on rivaroxaban and aspirin. Five months later, the patient experienced left calf pain. In the interim, he had been diagnosed with Behcet's disease by a rheumatologist who was consulted due to oral ulcers and skin lesions and accordingly started on prednisone, colchicine, and azathioprine. At this time, IVUS and venogram revealed thrombotic occlusion of the previously placed stent. Tissue plasminogen activator was infused into the stent, and pharmacomechanical thrombectomy restored flow through the left iliac veins. Follow-up laboratory workup revealed that subtherapeutic azathioprine dosing, and after appropriate adjustment, the patient has been asymptomatic for 12 months. Acute refractory DVT is a possible presenting symptom of Behcet's disease, which may be complicated by May-Thurner syndrome. Such patients should receive therapeutic immunosuppression in addition to anticoagulation. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Disease Development and Symptom Expression of Xanthomonas axonopodis pv. citri in Various Citrus Plant Tissues.

    Science.gov (United States)

    Vernière, C J; Gottwald, T R; Pruvost, O

    2003-07-01

    ABSTRACT Experimental inoculations of Xanthomonas axonopodis pv. citri in different tissues of Tahiti lime and Pineapple sweet orange were conducted monthly under natural conditions on Réunion Island. The interactions between a set of environmental and epidemic variables associated with disease expression and 184 different factor combinations were investigated to determine the parameters needed to explain Asiatic citrus canker (ACC) disease expression. Area under the disease progress curve (AUDPC), inoculation date (Id), fruit and leaf age ratings (FAR and LAR), and number of days during the first 2 weeks postinoculation for which the temperature was less than 14 degrees C (T(min)) or more than 28 degrees C (T(max)) were retained by principal component analysis and canonical correlation analysis as the most meaningful epidemic and environmental variables, respectively. AUDPC as the strongest dependent variable and combinations of the environmental variables as independent variables were used in multiple regression analyses. Tissue age rating at the time of infection was a good predictor for disease resulting from spray inoculation on fruits and leaves and also on fruits following a wound inoculation. Temperature, as expressed by T(min) or T(max), was also a significant factor in determining disease development described by AUDPC. Mature green stems were highly susceptible after wounding, similarly to leaves, but buds and leaf scars expressed the lowest susceptibility. These variations in disease expression according to the tissues will have different impacts on ACC epidemiology.

  13. Canavan disease - unusual imaging features in a child with mild clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

  14. Castleman's disease in association with follicular dendritic cell sarcoma presenting as a neck

    International Nuclear Information System (INIS)

    Hassan, S.; Suhaimi, Y.; Baharudin, A.

    2009-01-01

    Castleman's disease is a condition which usually occurs in the mediasternum. Very few cases have been reported to present as a neck swelling. Castleman's disease is rarely associated with follicular dendritic sarcoma. We report a case of 65 years old male with painless and slowly progressive right neck swelling who was initially suspected to be schwannoma but proved to be a Castleman's disease with associated follicular dendritic sarcoma. (author)

  15. Mesangioproliferative glomerulonephritis in a patient with Kimura′s disease presenting as Nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Surendra Singh Rathore

    2015-01-01

    Full Text Available Kimura′s disease is a rare chronic eosinophilic inflammatory disorder of unknown etiology. Majority of cases have been reported from South East Asia, while sporadic occurrences have been reported worldwide, including the Indian subcontinent. Nephrotic syndrome may be the presenting manifestation of Kimura′s disease, and a variety of renal lesions are observed histologically in such patients. We herein describe a case of steroid-responsive mesangioproliferative glomerulonephritis related to kimura′s disease.

  16. The use of Compton scattering to differentiate between classifications of normal and diseased breast tissue

    Energy Technology Data Exchange (ETDEWEB)

    Ryan, Elaine A; Farquharson, Michael J; Flinton, David M [School of Allied Health Sciences, City University, Charterhouse Square, London EC1M 6PA (United Kingdom)

    2005-07-21

    This study describes a technique for measuring the electron density of breast tissue utilizing Compton scattered photons. The K{sub {alpha}}{sub 2} line from a tungsten target industrial x-ray tube (57.97 keV) was used and the scattered x-rays collected at an angle of 30{sup 0}. At this angle the Compton and coherent photon peaks can be resolved using an energy dispersive detector and a peak fitting algorithm. The system was calibrated using solutions of known electron density. The results obtained from a pilot study of 22 tissues are presented. The tissue samples investigated comprise four different tissue classifications: adipose, malignancy, fibroadenoma and fibrocystic change (FCC). It is shown that there is a difference between adipose and malignant tissue, to a value of 9.0%, and between adipose and FCC, to a value of 12.7%. These figures are found to be significant by statistical analysis. The differences between adipose and fibroadenoma tissues (2.2%) and between malignancy and FCC (3.4%) are not significant. It is hypothesized that the alteration in glucose uptake within malignant cells may cause these tissues to have an elevated electron density. The fibrotic nature of tissue that has undergone FCC gives the highest measure of all tissue types.

  17. Amyloid Load in Fat Tissue Reflects Disease Severity and Predicts Survival in Amyloidosis

    NARCIS (Netherlands)

    Van Gameren, Ingrid I.; Hazenberg, Bouke P. C.; Bijzet, Johan; Haagsma, Elizabeth B.; Vellenga, Edo; Posthumus, Marcel D.; Jager, Pieter L.; Van Rijswijk, Martin H.

    Objective. The severity of systemic amyloidosis is thought to be related to the extent of amyloid deposition. We studied whether amyloid load in fat tissue reflects disease severity and predicts survival. Methods. We studied all consecutive patients with systemic amyloidosis seen between January

  18. Helicobacter pylori associated gastric diseases and lymphoid tissue hyperplasia in gastric antral mucosa

    NARCIS (Netherlands)

    Chen, X. Y.; Liu, W. Z.; Shi, Y.; Zhang, D. Z.; Xiao, S. D.; Tytgat, G. N. J.

    2002-01-01

    To investigate the relation between Helicobacter pylori associated gastroduodenal diseases and lymphoid tissue hyperplasia in the antral mucosa and to pursue its evolution after eradication of H pylori. Gastric antral biopsy specimens were obtained from 438 patients with H pylori positive

  19. Audit of Diabetic Soft Tissue Infection and Foot Disease in Accra ...

    African Journals Online (AJOL)

    BACKGROUND: Soft tissue infection and foot disease are well known complications among diabetes mellitus patients. With an increasing prevalence of diabetes mellitus in Africa, management of these complications is expected to become a major problem. OBJECTIVE: To audit the surgical management of diabetic

  20. A pilot study of the characterization of hepatic tissue strain in children with cystic-fibrosis-associated liver disease (CFLD) by acoustic radiation force impulse imaging

    International Nuclear Information System (INIS)

    Behrens, Christopher B.; Langholz, Juliane H.; Eiler, Jessika; Jenewein, Raphael; Fuchs, Konstantin; Alzen, Gerhard F.P.; Naehrlich, Lutz; Harth, Sebastian; Krombach, Gabriele A.

    2013-01-01

    Progressive fibrotic alterations of liver tissue represent a major complication in children with cystic fibrosis. Correct assessment of cystic-fibrosis-associated liver disease (CFLD) in clinical routine is a challenging issue. Sonographic elastography based on acoustic radiation force impulse imaging (ARFI) is a new noninvasive approach for quantitatively assessing in vivo elasticity of biological tissues in many organs. To characterize ARFI elastography as a diagnostic tool to assess alteration of liver tissue elasticity related to cystic fibrosis in children. ARFI elastography and B-mode US imaging were performed in 36 children with cystic fibrosis. The children's clinical history and laboratory parameters were documented. According to the findings on conventional US, children were assigned to distinct groups indicating severity of hepatic tissue alterations. The relationship between US findings and respective elastography values was assessed. Additionally, differences between ARFI elastography values of each US group were statistically tested. Children with sonomorphologic characteristics of fibrotic tissue remodeling presented significantly increased values for tissue elasticity. Children with normal B-mode US or discrete signs of hepatic tissue alterations showed a tendency toward increased tissue stiffness indicating early tissue remodeling. Assessment of children with CFLD by means of ARFI elastography yields adequate results when compared to conventional US. For detection of early stages of liver disease with mild fibrotic reactions of hepatic tissue, ARFI elastography might offer diagnostic advantages over conventional US. Thus, liver stiffness measured by means of elastography might represent a valuable biological parameter for evaluation and follow-up of CFLD. (orig.)

  1. A pilot study of the characterization of hepatic tissue strain in children with cystic-fibrosis-associated liver disease (CFLD) by acoustic radiation force impulse imaging

    Energy Technology Data Exchange (ETDEWEB)

    Behrens, Christopher B.; Langholz, Juliane H.; Eiler, Jessika; Jenewein, Raphael; Fuchs, Konstantin; Alzen, Gerhard F.P. [University Hospital Giessen, Department of Pediatric Radiology, Giessen (Germany); Naehrlich, Lutz [University Hospital Giessen, Department of Pediatrics, Giessen (Germany); Harth, Sebastian; Krombach, Gabriele A. [University Hospital Giessen, Department of Radiology, Giessen (Germany)

    2013-03-15

    Progressive fibrotic alterations of liver tissue represent a major complication in children with cystic fibrosis. Correct assessment of cystic-fibrosis-associated liver disease (CFLD) in clinical routine is a challenging issue. Sonographic elastography based on acoustic radiation force impulse imaging (ARFI) is a new noninvasive approach for quantitatively assessing in vivo elasticity of biological tissues in many organs. To characterize ARFI elastography as a diagnostic tool to assess alteration of liver tissue elasticity related to cystic fibrosis in children. ARFI elastography and B-mode US imaging were performed in 36 children with cystic fibrosis. The children's clinical history and laboratory parameters were documented. According to the findings on conventional US, children were assigned to distinct groups indicating severity of hepatic tissue alterations. The relationship between US findings and respective elastography values was assessed. Additionally, differences between ARFI elastography values of each US group were statistically tested. Children with sonomorphologic characteristics of fibrotic tissue remodeling presented significantly increased values for tissue elasticity. Children with normal B-mode US or discrete signs of hepatic tissue alterations showed a tendency toward increased tissue stiffness indicating early tissue remodeling. Assessment of children with CFLD by means of ARFI elastography yields adequate results when compared to conventional US. For detection of early stages of liver disease with mild fibrotic reactions of hepatic tissue, ARFI elastography might offer diagnostic advantages over conventional US. Thus, liver stiffness measured by means of elastography might represent a valuable biological parameter for evaluation and follow-up of CFLD. (orig.)

  2. Unilateral abdominal mass: An unusual presentation of autosomal dominant polycystic kidney disease in children

    International Nuclear Information System (INIS)

    Farrell, T.P.; Boal, D.K.; Rabionowitz, R.

    1984-01-01

    Autosomal dominant polycystic kidney disease is rarely diagnosed in infancy or childhood. The renal involvement is typically bilateral. We describe two children with ADPKD (autosomal dominant polycystic kidney disease) presenting with a unilateral renal mass. The value of a careful genetic history and the role of sonography will be discussed. (orig.)

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

    Directory of Open Access Journals (Sweden)

    Baldev Singh

    2001-01-01

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

  4. Pulmonary hypertension not a major feature of early mixed connective tissue disease: A prospective clinicoserological study

    Directory of Open Access Journals (Sweden)

    Haroon N

    2005-01-01

    Full Text Available Background: Mixed connective tissue disease (MCTD has features common to lupus, scleroderma and myositis with high levels of antibodies to U1 ribonucleoprotein (U1 RNP. Identification of a high incidence of pulmonary artery hypertension (PAH has changed its prospect. We report the largest series from India. Settings and Design: Rheumatology unit of a tertiary care centre in India; prospective. Materials and Methods: Patients seen between January 2002 and June 2004, satisfying the Kasukawa criteria were enrolled. All patients had a complete laboratory work-up including pulmonary function test, 2-D echocardiography, and Schirmer′s test, antinuclear antibodies (ANA and antibodies to extractable nuclear antigens. HRCT of chest was done where indicated. All patients were given standard treatment and followed up regularly. Results: Out of 1500 patients, thirteen (one male were diagnosed to have MCTD. The median follow-up period was 18 months [Interquartile range (IQR 12-22]. The median age of onset of symptoms was 36 years (IQR 22-39 and the median duration of disease was three years (IQR 1.75-4. The most common manifestation was polyarthritis followed by puffy fingers. Sjogren′s syndrome, dysphagia and interstitial lung disease, was present in four, three and two patients respectively. Two patients each had myositis and migraine. None had PAH, serositis or renal involvement. Arthritis, puffy fingers and RaynaudÆs phenomenon were the most common manifestations at onset. All patients were positive for ANA and anti U1 RNP. Two patients each had antibodies to Sm and SSA. Response to treatment also was noted. Conclusion: Pulmonary artery hypertension is not common in early MCTD.

  5. Renal tissue oxygenation in children with chronic kidney disease due to vesicoureteral reflux.

    Science.gov (United States)

    Chehade, Hassib; Milani, Bastien; Ansaloni, Annalisa; Anex, Christiane; Bassi, Isabelle; Piskunowicz, Maciej; Stuber, Matthias; Cachat, Francois; Burnier, Michel; Pruijm, Menno

    2016-11-01

    Vesicoureteral reflux (VUR) is a frequent cause of chronic kidney disease (CKD) in children. Using blood oxygenation level-dependent magnetic resonance imaging (BOLD-MRI), we measured cortical and medullary oxygenation in children with CKD due to VUR and compared the results to those obtained on healthy controls. The study population comprised 37 children (19 with CKD due to VUR and 18 healthy age-matched controls). BOLD-MRI was performed before and after furosemide treatment. MR images were analyzed with the region-of-interest (ROI) technique to assess the mean R2* values (=1/T2*) of the cortex and medulla of each kidney and with the concentric object (CO) technique that divides renal parenchyma in 12 equal layers. R2* values were significantly lower (corresponding to higher oxygenation) in the cortex and medulla of kidneys of children with CKD due to VUR than in those of the healthy controls (cortex 16.4 ± 1.4 vs. 17.2 ± 1.6 s(-1) , respectively; medulla 28.4 ± 3.2 vs. 30.3 ± 1.9 s(-1) , respectively; P children with a history of unilateral reflux (n = 9), the non-affected contralateral kidneys presented similar R2* values as the diseased kidneys, but their response to furosemide was significantly larger (-7.4 ± 3.2 vs. -5.7 ± 3.0, respectively; P = 0.05). Chronic kidney disease due to VUR is not associated with kidney tissue hypoxia in children. The significantly larger furosemide-induced decrease in medullary R2* levels in the healthy group and unaffected contralateral kidneys of the VUR group points towards more intense renal sodium transport in these kidneys.

  6. [Tissue bank of the National Centre for Tumour Disease. An innovative platform for translational tumour].

    Science.gov (United States)

    Herpel, E; Koleganova, N; Schirmacher, P

    2008-11-01

    The tissue bank of the National Centre for Tumour Diseases (NCT) in Heidelberg, Germany, was founded in 2005 by the University Hospital of Heidelberg and the German Cancer Research Centre as a section of the NCT. It is a nonprofit organization with a completely evaluated legal and ethical framework and supports the Comprehensive Cancer Centre concept. Its main aim is the acquisition and characterization of fresh-frozen and paraffin-embedded human tissues according to the standards of good scientific practice and the promotion of interdisciplinary tumour research of the comprehensive cancer centre and its cooperating partners. It also offers expert project assistance: a project leader can submit a short proposal, and the tissue collecting/preparing process will be performed in cooperation with a specialised pathologist and, if applicable, an experienced clinical researcher. The tissue bank is also a central platform for further developing of innovative technologies for tissue handling, e.g. multi-tissue-array and virtual microscopy, with links to digital image analysis and bioinformatics. Thus, the NCT tissue bank represents a model for innovative biobanking and for institutions with active interdisciplinary cancer research.

  7. Diverticular disease of the colon presenting as pyometra: a case report

    OpenAIRE

    Pankaja, Susmita; Rrukaj, Astrit; Bathula, Uma

    2014-01-01

    Introduction Pyometra can be caused by various etiologies. We present a rare case of diverticular disease of the colon presenting as pyometra. This type of presentation can be challenging even for an astute clinician. Case presentation A 74-year-old Caucasian woman with a history of pyometra was referred to our gynecology clinic as an urgent case. She was obese, diabetic and hypertensive. Due to the patient profile and the clinical presentation, clinicians were misled toward a diagnosis of po...

  8. Varied presentations of moyamoya disease in a tertiary care hospital of north-east India

    Directory of Open Access Journals (Sweden)

    Papori Borah

    2014-01-01

    Full Text Available Introduction: Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs, anterior cerebral arteries (ACAs and middle cerebral arteries (MCAs, accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India. Objectives: To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India. Material and Methods: Relevant investigations were done to rule out other causes of moyamoya syndrome. Results: We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA in addition to stenosis of bilateral ICAs, ACAs and MCAs. Conclusion: Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.

  9. Clinical presentation of inflammatory bowel disease in Saudi children (Single centre experience

    Directory of Open Access Journals (Sweden)

    K. Alreheili

    2016-12-01

    Conclusions: CD is the most prevalent form of IBD in Saudi children. Male predominance and a high rate of growth failure were documented in children with CD. Clinical presentation, family history, and disease localization are comparable to international data.

  10. Colchicine therapy in amyloidosis related with plasmacytic castleman disease presenting with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Saime Paydas

    2015-01-01

    Full Text Available Castleman disease (CD is a neoplasm that presents with single or multiple lymphadenopathy. The disease is characterized by fever, weight loss, anemia, polyclonal hyperglobulinemia, splenomegaly, thrombocytosis and peripheral lymphadenopathy. In this paper, we report a young man with plasmacytic type CD and amyloid A (AA deposition who presented with intra-abdominal mass and nephrotic syndrome. He was successfully treated with colchicine following surgery.

  11. Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child.

    Science.gov (United States)

    Keskin, Ozlem; Keskin, Mehmet; Guler, Elif; Tutar, Ediz; Saygili, Oguzhan; Kucukosmanoglu, Ercan; Kor, Yilmaz; Celik, Haydar; Coskun, Enes

    2011-08-01

    Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH and celiac disease (CD) is extremely rare. We report a 9-year-old boy with Lane-Hamilton syndrome, co-occurrence of pulmonary hemosiderosis with CD. This presentation is unique presentation because he has also retinal pigmentation. Copyright © 2011 Wiley-Liss, Inc.

  12. [Diagnosis and Treatment of Peptic Ulcer Disease: Present and Future Perspective].

    Science.gov (United States)

    Kim, Byung Wook

    2016-06-25

    Peptic ulcer disease is one of the most commonly encountered diseases in gastroenterology clinics. After the discovery of Helicobacter pylori by Warren and Marshall, it has been identified as the most important cause of peptic ulcer. Eradication of H. pylori markedly reduces the post-treatment recurrence rate of peptic ulcer. However, as human populations age, the incidence of cardiovascular and musculoskeletal diseases increases and consequent use of aspirin and non-steroidal anti-in-flammatory drugs increases. Thus causes and presenting patterns of peptic ulcer have changed. In this review, I describe new diagnostic and therapeutic strategies for peptic ulcer disease and explore future perspectives.

  13. [Femoral osteolytic lesions with soft tissue tumors and hypercalcemia as presentation form of a B-cell lymphoma].

    Science.gov (United States)

    Hernández Hernández, J L; Olmos Martínez, J M; Figols Ladrón de Guevara, J; Riancho Moral, J A; González Macías, J

    2000-05-01

    Hypercalcemia associated with haematological neoplasms account for 15 to 20% of hipercalcemia in malignancy, and occurs usually in patients with multiple myeloma. However, its incidence in patients with linfoma is low, and it is observed usually in T-cell linfomas. Bone affectation is also uncommon in patients with non-Hodgkin linfoma. It usually is seen as a late manifestation of the disease, and its occurrence as the form of presentation is exceptional. We hereby report a patient with a B-cell non-Hodgkin linfoma presenting with hypercalcemia and femoral osteolytic lesions.

  14. Isolated Ro52 Antibodies as Immunological Marker of a Mild Phenotype of Undifferentiated Connective Tissue Diseases

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    Ana Alonso-Larruga

    2017-01-01

    Full Text Available The term undifferentiated connective tissue disease (UCTD is used to describe undiagnosed patients that do not fulfill classification criteria for definite connective tissue disease (Systemic Lupus, Systemic Sclerosis, Sjögren Syndrome, and Dermatomyositis/Polymyositis. It is important to find serological markers as predictors of the evolution or severity of these diseases. The objective of this retrospective study was to investigate if there was a milder subgroup of UCTD with a special clinical profile consisting only in the presence of anti-Ro52 autoantibodies. Immunological and clinical records of 62 patients attending the hospital during 30 months were studied. Results showed a target population formed by mostly women, aged between 40 and 80 years at the moment of the study, with a registered age of onset between 40 and 60 years. Speckled pattern was the most frequent pattern found by indirect immunofluorescence. Given the obtained results and keeping in mind possible limitations because of sample size, isolated positive anti-Ro52 autoantibodies seem to lead to a benign effect in terms of evolution of the disease. As a future objective, the follow-up of these patients should be necessary to investigate new clinical symptoms, serological markers, or development of a definite connective tissue disease over time.

  15. Wilson's disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment.

    Science.gov (United States)

    Tribl, Gotthard G; Bor-Seng-Shu, Edson; Trindade, Mateus C; Lucato, Leandro T; Teixeira, Manoel J; Barbosa, Egberto R

    2014-09-01

    To describe characteristics of REM sleep behavior disorder in Wilson's disease. Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Four Wilson's disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. This first description of REM sleep behavior disorder in Wilson's disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson's disease and adds further evidence to the parallelism of Parkinson's disease and Wilson's disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson's disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson's disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in "pre-clinical" Parkinson's disease.

  16. Impact of Antithrombotic Therapy in Atrial Fibrillation on the Presentation of Coronary Artery Disease.

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    Pak Hei Chan

    Full Text Available Little is known about whether atrial fibrillation is a presentation of coronary disease. There is a paucity of knowledge about their causal relationship and also the impact of different antithrombotic strategies on the subsequent presentation of symptomatic coronary disease.We studied 7,526 Chinese patients diagnosed with non-valvular atrial fibrillation and no documented history of coronary artery disease. The primary endpoint was the new occurrence of coronary artery disease--either stable coronary artery disease or acute coronary syndrome. After a mean follow-up of 3.2±3.5 years (24,071 patient-years, a primary endpoint occurred in 987 patients (13.1%. The overall annual incidence of coronary artery disease was 4.10%/year. No significant differences in age, sex, and mean CHA2DS2-VASc score were observed between patients with and without the primary endpoint. When stratified according to the antithrombotic strategies applied for stroke prevention, the annual incidence of coronary artery disease was 5.49%/year, 4.45%/year and 2.16%/year respectively in those prescribed no antithrombotic therapy, aspirin, and warfarin. Similar trends were observed in patients with acute coronary syndromes. Diabetes mellitus, smoking history and renal failure requiring dialysis were predictors for primary endpoint in all antithrombotic therapies.In patients with non-valvular atrial fibrillation, there is a modest association with coronary artery disease. Patients prescribed warfarin had the lowest risk of new onset coronary artery disease.

  17. Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

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    Felisati Giovanni

    2012-04-01

    Full Text Available Abstract Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.

  18. Recurrent lip swelling as a late presentation of Kawasaki disease: Case report and review of literature.

    Science.gov (United States)

    Faden, Asmaa

    2013-01-01

    Kawasaki Disease (KD) is an acute systemic vasculitis of unknown etiology. In many developed countries, KD has replaced rheumatic heart disease as the leading cause of acquired heart disease in children. Among the classical criteria for a diagnosis of KD are oral manifestations such as strawberry tongue, erythematous cracked lip, and oropharyngeal mucositis. We report the case of a 24-year-old Saudi female with a history of Kawasaki disease who presented to our oral medicine clinic with recurrent painless swelling of the upper lip. As lip swelling has not previously been reported as an oral manifestation of KD, this case represents a novel presentation of recurrent Kawasaki disease in an adult female.

  19. [Simultaneous presentation of autoimmune thyroiditis and celiac disease in an adult].

    Science.gov (United States)

    Cubiella, J; Bustamante, J; Sans, M; Ramírez, A; Feu, F; Piqué, J M

    1998-11-01

    Celiac disease may be associated with other underlying autoimmune diseases. Among these, thyroid disease has been described in around 10% of the cases with hypothyroidism being the most frequently reported. Clinical suspicion of thyroid involvement in patients with celiac disease is difficult since the symptomatology is scarce or is masked by the picture of malabsorption. Nonetheless, its detection is important since it is not solved by gluten free diet and its correction requires specific treatment. Thyroid function studies, in addition to determination of antithyroglobulin and antimicrosomal antibodies, should be considered in celiac patients refractory to conventional dietetic treatment. We herein present the case of a 65-year-old woman who consulted for a malabsorption syndrome in whom celiac disease of the adult was simultaneously presented with hyperthyroidism secondary to autoimmune thyroiditis.

  20. Biopsable neural tissues: toward new biomarkers for Parkinson’s disease?

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    Thibaud Lebouvier

    2010-09-01

    Full Text Available Biomarkers for Parkinson’s disease (PD are mainly intended for the early diagnosis of the disease and to monitor its progression, two aspects insufficiently covered by clinical evaluation. In the last 20 years, the search for biomarkers has been supported by technological advances in the fields of molecular genetics and neuroimaging. Nevertheless, no fully validated biomarker is yet available, and there is still a need for biomarkers that will complement those already available. Development of biomarkers for PD has been hampered by the fact that the core pathology lies in the brainstem, hidden from direct study in living patients. In this context, the recent observations that clearly demonstrated the presence of PD pathology in peripheral neural tissues provide new opportunities to develop original histopathological markers of the disease. Some of these peripheral tissues, especially the enteric nervous system, by being assessable using routine biopsies, could represent a window to assess in vivo the neuropathological processes occurring in PD.

  1. A young diabetic with suicidal risk: Rare disease with a rarer presentation

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    Rajeev Philip

    2013-01-01

    Full Text Available Rare genetic or inherited forms of diabetes can mimic immune mediated type 1 diabetes. Early age of onset and associated features help to differentiate these diseases from type 1 diabetes. Wolfram syndrome, an inherited neuro degenerative disorder, presents as insulin dependent diabetes mellitus, diabetes insipidus, optic atrophy and deafness. But less well described features like psychiatric manifestations can be the presentation of this disease. We present such a case. Wolfram syndrome should be considered as a differential diagnosis in insulin dependent diabetic children who present with neuropsychiatric problems.

  2. Mucinous breast carcinoma presenting as Paget's disease of the nipple in a man: A case report

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    Charalabopoulos Konstantinos

    2008-10-01

    Full Text Available Abstract Introduction Male breast cancer is rare compared to its female counterpart representing less than 1% of cancer in men. Moreover, mucinous carcinoma of the male breast is an extremely rare histological subtype of malignancy. Paget's disease of the nipple is rarely observed in males. Case report Herein, we describe a unique case of an 86 years old man with mucinous breast cancer presenting as Paget's disease of the nipple. According to the immunohistochemical evaluation the neoplastic cells were positive for estrogen (ER and progesterone receptors (PR. Conclusion To our best knowledge this is the first case of mucinous male breast cancer presenting as Paget's disease of the nipple.

  3. Association between antinuclear antibody titers and connective tissue diseases in a Rheumatology Department.

    Science.gov (United States)

    Menor Almagro, Raúl; Rodríguez Gutiérrez, Juan Francisco; Martín-Martínez, María Auxiliadora; Rodríguez Valls, María José; Aranda Valera, Concepción; de la Iglesia Salgado, José Luís

    To determine the dilution titles at antinuclear antibodies (ANA) by indirect immunofluorescence observed in cell substrate HEp-2 and its association with the diagnosis of systemic connective tissue disease in ANA test requested by a Rheumatology Unit. Samples of patients attended for the first time in the rheumatology unit, without prior ANA test, between January 2010 and December 2012 were selected. The dilution titers, immunofluorescence patterns and antigen specificity were recorded. In January 2015 the diagnosis of the patients were evaluated and classified in systemic disease connective tissue (systemic lupus erythematosus, Sjögren's syndrome, systemic sclerosis, undifferentiated connective, antiphospholipid syndrome, mixed connective tissue and inflammatory myophaty) or not systemic disease connective tissue. A total of 1282 ANA tests requested by the Rheumatology Unit in subjects without previous study, 293 were positive, predominance of women (81.9%). Patients with systemic connective tissue disease were recorded 105, and 188 without systemic connective tissue disease. For 1/640 dilutions the positive predictive value in the connective was 73.3% compared to 26.6% of non-connective, and for values ≥1/1,280 85% versus 15% respectively. When performing the multivariate analysis we observed a positive association between 1/320 dilution OR 3.069 (95% CI: 1.237-7.614; P=.016), 1/640 OR 12.570 (95% CI: 3.659-43.187; P=.000) and ≥1/1,280 OR 42.136 (95% CI: 8.604-206.345; P=.000). These results show association titles dilution ≥1/320 in ANA's first test requested by a Rheumatology Unit with patients with systemic connective tissue disease. The VPP in these patients was higher than previous studies requested by other medical specialties. This may indicate the importance of application of the test in a targeted way. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  4. Changes in Presentation of Celiac Disease in Ireland From the 1960s to 2015.

    Science.gov (United States)

    Dominguez Castro, Patricia; Harkin, Grace; Hussey, Mary; Christopher, Brian; Kiat, Clifford; Liong Chin, Jun; Trimble, Valerie; McNamara, Deirdre; MacMathuna, Padraic; Egan, Brian; Ryan, Barbara; Kevans, David; Farrell, Richard; Byrnes, Valerie; Mahmud, Nasir; McManus, Ross

    2017-06-01

    Celiac disease is an immune-mediated enteropathy characterized with high heterogeneity in presentation among genetically predisposed individuals. In recent years, a change in the phenotypic presentation of celiac disease has been reported. We studied clinical presentation, from 1960 through 2015, in Ireland, which has a high incidence of celiac disease. We performed a retrospective analysis of medical charts from patients diagnosed with celiac disease at 5 secondary referral centers in Ireland from 1960 through 2015 (n = 749; median age, 56 years; age range, 18-91 years). The cohort was divided into 5 groups based on year of diagnosis (≤1985, 1986-1995, 1996-2005, 2006-2010, or 2011 and later). We collected findings from clinical presentation at diagnosis; serology tests; small intestinal biopsy analyses; and patients' demographic, clinical, and family data. Presentations at diagnosis were classified according to the Oslo criteria as follows: classical (patients presenting with malabsorption), nonclassical (no signs or symptoms of malabsorption at presentation), or subclinical (below the threshold of clinical detection). The primary outcome was change in clinical presentation of celiac disease over time. Of the 749 patients studied, 512 were female and 237 were male (ratio of 2.2:1). Female patients were diagnosed at younger ages than male patients (42 vs 47 years, respectively; P = .004), and had more immune-mediated conditions than male patients (35.7% for female patients vs 21.5% for male patients; P presented with classical features of celiac disease after 2010 (48.4%) than ≤1985 (85.2%); the proportion of patients with nonclassical or subclinical celiac disease increased from 14.8% ≤1985 to 51.6% after 2010 (P = .006 for each). Biopsies categorized as Marsh 3c decreased, from 52.2% in the period 1996-2005 to 22.5% in the period after 2010 (P = .003). The prevalence of associated thyroid disease has decreased during the study period, from 36.6%

  5. Relationship between osteoporosis and adipose tissue leptin and osteoprotegerin in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Pobeha, Pavol; Ukropec, Jozef; Skyba, Peter; Ukropcova, Barbara; Joppa, Pavol; Kurdiova, Timea; Javorsky, Martin; Klimes, Iwar; Tkac, Ivan; Gasperikova, Daniela; Tkacova, Ruzena

    2011-05-01

    The role of fat-bone interactions in the pathogenesis of osteoporosis in chronic obstructive pulmonary disease (COPD) is poorly understood. Our aim was to investigate expressions of leptin and osteoprotegerin (OPG) in the adipose tissue, and their relationships to osteoporosis in patients with COPD. In 39 patients with stable COPD, bone mineral density (BMD) and body composition was assessed by Dual Energy X-Ray Absorptiometry. Serum leptin was determined by the enzyme-linked immunosorbent assay, and bone turnover markers osteocalcin and β-crosslaps by the electrochemiluminiscence immunoassays. Subcutaneous adipose tissue samples were analyzed using real-time PCR. Twenty-one patients without, and 18 with osteoporosis were enrolled (35 men; age 62.2 ± 7.3years). Compared to patients without osteoporosis, those with the disease had significantly lower serum levels and adipose tissue expressions of leptin, in association with increased serum β-crosslaps (p=0.028, p=0.034, p=0.022, respectively). Log adipose tissue leptin was inversely related to serum β-crosslaps (p=0.015), and directly to serum leptin (pleptin and OPG expressions predicted femoral T-score independently of age, gender and pulmonary function (pleptin and OPG expressions. Our results suggest that adipose tissue leptin and OPG expressions are related to osteoporosis in patients with COPD, and appear to act as mediators between fat mass and BMD. Copyright © 2011 Elsevier Inc. All rights reserved.

  6. Hypokalemic Rhabdomyolysis Induced Acute Renal Failure As a Presentation of Coeliac Disease

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    Funda Sarı

    2012-03-01

    Full Text Available Adult coeliac disease commonly presents without classical symptoms as chronic diarrhea and weight loss. We describe the case of a 31-year-old woman with persistent life-threatening hypokalemia, acute renal failure, and acute quadriplegia due to diarrhea that had continued for one month. Although there are cases of coeliac disease diagnosed with hypokalemic rhabdomyolysis in the literature, none of the cases developed acute renal failure. This is the first case in the literature diagnosed with acute renal failure due to hypokalemic rhabdomyolysis as a presentation of coeliac disease. In acute renal failure cases that present with hypokalemic rhabdomyolysis due to severe diarrhea, coeliac disease should be considered as a differential diagnosis despite the negative antigliadin IgA antibody.

  7. Ectopic Tertiary Lymphoid Tissue in Inflammatory Bowel Disease: Protective or Provocateur?

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    Eoin Neil McNamee

    2016-08-01

    Full Text Available Organized lymphoid tissues like the thymus first appeared in jawed vertebrates around 500 million years ago and have evolved to equip the host with a network of specialized sites, strategically located to orchestrate strict immune-surveillance and efficient immune responses autonomously. The gut-associated lymphoid tissues (GALT maintain a mostly tolerant environment to dampen our responses to daily dietary and microbial products in the intestine. However, when this homeostasis is perturbed by chronic inflammation, the intestine is able to develop florid organized tertiary lymphoid tissues (TLT, which heralds the onset of regional immune dysregulation. While TLT are a pathologic hallmark of Crohn’s disease (CD, their role in the overall process remains largely enigmatic. A critical question remains; are intestinal TLT generated by the immune infiltrated intestine to modulate immune responses and rebuild tolerance to the microbiota or are they playing a more sinister role by generating dysregulated responses that perpetuate disease? Herein we discuss the main theories of intestinal tertiary lymphoid tissue neogenesis and focus on the most recent findings that open new perspectives to their role in inflammatory bowel disease.

  8. [Presence of bacterial DNA in valvular tissue of patients with chronic rheumatic heart disease].

    Science.gov (United States)

    Figueroa, Fernando E; Carrión A, Flavio; Valenzuela M, Sylvia; Turner G, Eduardo; Aceitón E, Cristian; Hirigoyen P, Carolina; Bogdanic W, Katherine; Solís D, Claudia; Mansilla A, Karina; Urra G, Soledad

    2007-08-01

    Rheumatic heart disease (RHD) is a delayed consequence of a pharyngeal infection with Group A streptococcus (GAS), usually ascribed to a cross-reactive immune response to the host cardiac tissues. Acute rheumatic fever (ARF) and its ensuing valvular sequelae are thus considered the prototype of a post-infectious autoimmune disease, with no direct evidence of residual streptococcal antigen in diseased valvular tissues. However, recent studies concerning the antigenic specificity and clonality of intralesional lymphocytes have revealed oligoclonal expansions characteristic of an antigen specific response, that might be related to GAS. To search for bacterial DNA in valvular tissue from RHD patients and controls. We extracted DNA from surgically excised valve specimens from 15 RHD patients and 6 non RHD controls and tested for the presence of bacterial DNA by Polymerase Chain Reaction (PCR) with primers for 16S rRNA. Eighty percent (12/15) of valve specimens from RHD patients were positive for bacterial DNA, as opposed to none of the valves (n =6) from non RHD controls. These results suggest that GAS might persist in valvular tissue in patients with ARF and contribute to the inflammatory scarring lesion that leads to cardiovascular sequelae.

  9. High risk human papilloma viruses (HPVs) are present in benign prostate tissues before development of HPV associated prostate cancer.

    Science.gov (United States)

    Glenn, Wendy K; Ngan, Christopher C; Amos, Timothy G; Edwards, Richard J; Swift, Joshua; Lutze-Mann, Louise; Shang, Fei; Whitaker, Noel J; Lawson, James S

    2017-01-01

    Although high risk HPVs are associated with an increased risk of prostate cancer it is not known if they have a causal role. The purpose of this study is to investigate the potential role of human papilloma viruses (HPVs) in prostate cancer. The aims are (i) to investigate the presence and confirm the identity of high risk HPVs in benign prostate tissues prior to the development of HPV positive prostate cancer in the same patients, and (ii) to determine if HPVs are biologically active. We used polymerase chain reaction (PCR) to identify HPVs in specimens from 52 Australian men with benign prostate biopsies who 1 to 10 years later developed prostate cancer. Immunohistochemistry (IHC) was used to assess the expression of HPV E7 oncoproteins, cytokeratin and prostate specific antigen (PSA). We used RNASeq data from The Cancer Genome Atlas (TCGA) to identify possible HPV RNA sequences in prostate cancer. HPV screening using standard PCR was conducted on 28 of the 52 sets of benign and later prostate cancers. HPV L1 genes were identified in 13 (46%) benign and 8 (29%) of 28 later prostate cancers in the same patients. HPV E7 genes were identified in 23 (82%) benign and 19 (68%) of 28 subsequent prostate cancers in the same patients. The same HPV types were present in both the benign and subsequent prostate cancers in 9 sets of specimens. HPV type 16 was identified in 15% of benign and 3% of prostate cancers. HPV type 18 was identified in 26% of benign and 16% of prostate cancers. Small numbers of HPV types 45, 47, 76 and 115 were also identified. High confidence RNA-Seq evidence for high risk HPV types 16 and 18 was identified in 12 (2%) of the 502 TCGA prostate cancer transcriptomes. High risk HPV E7 oncoprotein was positively expressed in 23 (82%) of 28 benign prostate specimens but only in 8 (29%) of 28 of the later prostate cancer specimens. This difference is statistically significant ( p  = 0.001). Prostate specific antigen (PSA) was more highly expressed in 26

  10. Valve tissue characterization by magnetic resonance imaging in calcific aortic valve disease.

    Science.gov (United States)

    Le Ven, Florent; Tizón-Marcos, Helena; Fuchs, Christina; Mathieu, Patrick; Pibarot, Philippe; Larose, Eric

    2014-12-01

    Calcific aortic valve disease affects 10%-15% of the elderly population, causing considerable morbidity and mortality. There is no imaging technique that allows for the assessment of tissue composition of the valve in vivo. We thus investigated whether multiparametric magnetic resonance imaging (MRI) could characterize and quantify lipid, fibrous, and mineralized tissues within aortic valve (AV) cusps. AV leaflets were explanted from patients with severe aortic stenosis at the time of valve replacement surgery. Aortic cusps were imaged ex vivo using 1.5 T MRI using 3 gradient-echo sequences with T1, moderate T2, and proton density weightings (T1w, T2w, and PDw). Histopathologic analysis was performed on coregistered slices to identify and measure mineralized tissue, fibrous tissue, and lipid-rich tissue. Area and mean grey values were measured in all 3 weightings by standardized software. Four hundred ninety-two regions of interest from 30 AV leaflets were studied. Total leaflet surface and the areas of mineralized (P equation integrating the grey value data from all 3 weightings allowed multiparametric MRI to identify valve leaflet components with areas under the receiver operating characteristic curve of 0.92, 0.81, and 0.72, respectively. AV leaflet characteristics, including tissue composition, distribution, and area, may be successfully measured by multiparametric MRI with good to excellent accuracy. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  11. Cellular adaptation to biomechanical stress across length scales in tissue homeostasis and disease.

    Science.gov (United States)

    Gilbert, Penney M; Weaver, Valerie M

    2017-07-01

    Human tissues are remarkably adaptable and robust, harboring the collective ability to detect and respond to external stresses while maintaining tissue integrity. Following injury, many tissues have the capacity to repair the damage - and restore form and function - by deploying cellular and molecular mechanisms reminiscent of developmental programs. Indeed, it is increasingly clear that cancer and chronic conditions that develop with age arise as a result of cells and tissues re-implementing and deregulating a selection of developmental programs. Therefore, understanding the fundamental molecular mechanisms that drive cell and tissue responses is a necessity when designing therapies to treat human conditions. Extracellular matrix stiffness synergizes with chemical cues to drive single cell and collective cell behavior in culture and acts to establish and maintain tissue homeostasis in the body. This review will highlight recent advances that elucidate the impact of matrix mechanics on cell behavior and fate across these length scales during times of homeostasis and in disease states. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Adult onset coats disease in a 56-year-old male: An atypical presentation

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    Bodhraj Dhawan

    2015-01-01

    Full Text Available Coats disease is a congenital retinal vascular disease, which is seen commonly in childhood and remits and exacerbates throughout life. However, it is not rare for coats disease to present in adulthood for the first time. This has been referred to as adult onset coats disease. We do hereby present a rare case of adult onset coats disease in a 56-year-old male patient who presented with visual acuity of 20/200 in the left eye. Fundus findings typical of coats disease included telangiectasis, macular exudation and edema. Fluorescein angiography revealed peripheral capillary nonperfusion areas and telangiectasis. Optical coherence tomography showed cystoid macular edema. After the treatment with intravitreal injection of bevacizumab (1.25 mg in 0.05 ml and sectoral panretinal photocoagulation to the area of capillary nonperfusion the macular edema was reduced by 100 microns, which translated to a visual acuity of 20/80, proving the point that the prognosis in these cases is not as grave as in classical coats disease.

  13. Cat scratch disease presenting with a retroperitoneal abscess in a patient without animal contacts.

    Science.gov (United States)

    Koga, Takeharu; Taguchi, Jun; Suzuki, Minoru; Higa, Yoshiteru; Kamimura, Tomoko; Nishimura, Munetsugu; Arakawa, Masahiro

    2009-12-01

    Cat scratch disease (CSD) is usually diagnosed in patients presenting with regional lymphadenopathy and pyrexia that follow contacts with animals. We describe here a young adult male patient who presented with marked pyrexia and a retroperitoneal abscess without relevant medical histories, illustrating that CSD can be a diagnostic challenge on selected occasions.

  14. Cat-scratch disease presenting as multifocal osteomyelitis with thoracic abscess.

    Science.gov (United States)

    Modi, S P; Eppes, S C; Klein, J D

    2001-10-01

    The case of a 4-year-old girl who presented with fever and back pain after being scratched by a kitten is presented. The diagnosis of cat scratch disease osteomyelitis was made by the detection of Bartonella henselae DNA by PCR analysis of a rib abscess aspirate.

  15. State-of-the-Art Imaging of the Lung for Connective Tissue Disease (CTD).

    Science.gov (United States)

    Ohno, Yoshiharu; Koyama, Hisanobu; Yoshikawa, Takeshi; Seki, Shinichiro

    2015-12-01

    Involvement of the respiratory system is common in connective tissue diseases (CTDs), and the resultant lung injury can affect every part of the lung: the pleura, alveoli, interstitium, vasculature, lymphatic tissue, and large and/or small airways. Most of the parenchymal manifestations of CTD are similar to those found in interstitial lung diseases (ILDs), especially idiopathic interstitial pneumonias, and can be classified using the same system. Although there is some overlap, each CTD is associated with a characteristic pattern of pulmonary involvement. For this reason, thin-section CT as well as pulmonary function tests and serum markers are utilized for diagnosis, disease severity assessment, and therapeutic efficacy evaluation of ILD associated with CTD. In addition, newly developed pulmonary magnetic resonance imaging (MRI) procedures have been recommended as useful alternative imaging options for patients with CTD. This review article will (1) address radiological findings for chest radiography and conventional or thin-section CT currently used for six major types of CTD, rheumatoid arthritis, scleroderma (progressive systemic sclerosis), polymyositis/dermatomyositis, systemic lupus erythematosus, Sjögren syndrome and mixed connective tissue disease; (2) briefly deal with radiation dose reduction for thin-section CT examination; and (3) discuss clinically applicable or state-of-the-art MR imaging for CTD patients.

  16. Elemental analysis of the frontal lobe of 'normal' brain tissue and that affected by Alzheimer's disease

    International Nuclear Information System (INIS)

    Stedman, J.D.; Spyrou, N.M.

    1997-01-01

    'Normal' brain tissue and brain tissue affected by Alzheimer's disease has been taken from the frontal lobe of both hemispheres and their elemental compositions in terms of major, minor and trace elements compared. Brain samples were obtained from the MRC Alzheimer's Disease Brain Bank, London. 25 samples were taken from 18 individuals (5 males and 13 females) of mean age 79.9 ± 7.3 years with pathologically confirmed Alzheimer's disease and 26 samples from 15 individuals (8 males and 7 females) of mean age 71.8 ± 13.0 years with no pathological sings of Alzheimer's disease ('normals'). The elemental concentration of the samples were determined by the techniques of Rutherford backscattering (RBS) analysis, particle induced X-ray emission (PIXE) analysis and instrumental neutron activation analysis (INAA). Na, Mg, Al, Cl, K, Sc, Fe, Zn, Se, Br, Rb and Cs were detected by INAA and significant differences in concentrations were found between concentrations in normal and Alzheimer tissue for the elements. Na, Cl, K, Se, Br and Rb, P, S, Cl, K, Ca, Fe, Zn and Cd were detected by PIXE analysis and significant differences found for the elements P, S, Cl, K and Ca. (author)

  17. Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Chaudhary, Sanjay; Qian, Qi

    2012-12-27

    We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be considered in the differential diagnoses of acute abdomen.

  18. Maternal Antiviral Immunoglobulin Accumulates in Neural Tissue of Neonates To Prevent HSV Neurological Disease

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    Yike Jiang

    2017-07-01

    Full Text Available While antibody responses to neurovirulent pathogens are critical for clearance, the extent to which antibodies access the nervous system to ameliorate infection is poorly understood. In this study on herpes simplex virus 1 (HSV-1, we demonstrate that HSV-specific antibodies are present during HSV-1 latency in the nervous systems of both mice and humans. We show that antibody-secreting cells entered the trigeminal ganglion (TG, a key site of HSV infection, and persisted long after the establishment of latent infection. We also demonstrate the ability of passively administered IgG to enter the TG independently of infection, showing that the naive TG is accessible to antibodies. The translational implication of this finding is that human fetal neural tissue could contain HSV-specific maternally derived antibodies. Exploring this possibility, we observed HSV-specific IgG in HSV DNA-negative human fetal TG, suggesting passive transfer of maternal immunity into the prenatal nervous system. To further investigate the role of maternal antibodies in the neonatal nervous system, we established a murine model to demonstrate that maternal IgG can access and persist in neonatal TG. This maternal antibody not only prevented disseminated infection but also completely protected the neonate from neurological disease and death following HSV challenge. Maternal antibodies therefore have a potent protective role in the neonatal nervous system against HSV infection. These findings strongly support the concept that prevention of prenatal and neonatal neurotropic infections can be achieved through maternal immunization.

  19. FEATURES OF CLINICAL COURSE OF GASTROESOPHAGEAL REFLUX DISEASE IN NEWLY RECRUITED WITH CONNECTIVE TISSUE UNDIFFERENTIATED DYSPLASIA SYNDROME

    Directory of Open Access Journals (Sweden)

    E.I. Kashkina

    2008-12-01

    Full Text Available The presence of connective tissue undifferentiated dysplasia syndrome against a background of psychological stress at newly recruited can promote the risk of gastroesophageal reflux disease occurrence. To the utmost, correlation between the gastroesophageal reflux disease and such manifestations of connective tissue undifferentiated dysplasia syndrome as asthenic constitution, chest deformation, Gothic palate and hypermobility of joints was found

  20. Celiac Disease Presenting as Profound Diarrhea and Weight Loss - A Celiac Crisis.

    Science.gov (United States)

    Bul, Vadim; Sleesman, Brett; Boulay, Brian

    2016-08-05

    BACKGROUND Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease - a celiac crisis. CASE REPORT A 46-year-old male with a past medical history significant for diabetes mellitus, type 2 (DM2) and recently treated Bell's Palsy presented to the emergency room complaining of weakness, diarrhea and lightheadedness. On presentation, the patient had a systolic blood pressure (SBP) of 60 mm Hg and a lactic acidosis with pH of 7.28. Infectious etiologies of diarrhea were ruled out. The patient had an EGD which showed erythema of the duodenal bulb. Serum anti-gliadin and anti-TTG IgA were both elevated suggesting Celiac disease. Biopsies showed histopathology consistent with celiac disease. The patient's diarrhea resolved after initiation of a gluten free diet. He gained 25 kilograms after discharge and did not require further hospitalizations for diarrhea. CONCLUSIONS Celiac crisis is a very rare presentation of celiac disease in adults but nonetheless should be considered in patients with marked metabolic derangements in the setting of osmotic diarrhea. Treatment consists of a gluten free diet and may require management with steroids and total parenteral nutrition (TPN).

  1. Age and Spatial Peculiarities of Non-neoplastic Diseases of the Skin and Subcutaneous Tissue in Kazakhstan, 2003-2015.

    Science.gov (United States)

    Igissinov, Nurbek; Kulmirzayeva, Dariyana; Bilyalova, Zarina; Akpolatova, Gulnur; Mamyrbayeva, Marzya; Zhumagaliyeva, Galina

    2017-11-01

    Arrangement of effective management aimed at improving dermatological services and consistent care of patients with skin diseases depends on understanding the epidemiological situation. This retrospective study presents an epidemiological assessment of non-neoplastic skin and subcutaneous tissue diseases in Kazakhstan registered in 2003-2015. The yearly incidence rate of the diseases among the whole population was in average 3,341.8±121.1 per 100000 population. This represents 4835.0±156.1 for children, 5503.2±141.8 for adolescents and 2646.6±106.7 for adults per 100000 inhabitants. Space and time incidence rate was evaluated according to the administrative division. The overall trend decreased to 3.5% in children to 2.8% in adolescents to 1.9%, and in adults to 3.9%. Considerable variation in rates was seen across the country, with highest rates in East Kazakhstan, Mangystau and Aktobe regions, the lowest - in Atyrau and South-Kazakhstan regions. Non-neoplastic diseases of skin and subcutaneous tissue continue to be an urgent public health problem, especially among children in many regions of Kazakhstan.

  2. Differential Diagnosis of Gynecologic Organ-Related Diseases in Women Presenting with Ascites

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    Ming-Huei Cheng

    2008-12-01

    Full Text Available Ascites is a pathologic accumulation of fluid within the peritoneal cavity, and usually develops as a result of liver disease, congestive heart failure or nephrotic syndrome. Ascites is also a common manifestation of some gynecologic diseases. It is important that health care workers consider gynecologic problems among the potential differential diagnoses in patients presenting with ascites. Various kinds of ovarian diseases, such as epithelial ovarian cancer, benign ovarian fibroma, stromal hyperplasia, ovarian hyperstimulation syndrome, primary peritoneal serous carcinoma, endometriosis and peritoneal tuberculosis, should be kept in mind when women are found to have ascites.

  3. The Intimate Relationship between Vestibular Migraine and Meniere Disease: A Review of Pathogenesis and Presentation

    Directory of Open Access Journals (Sweden)

    Yuan F. Liu

    2016-01-01

    Full Text Available Vestibular migraine (VM has only recently been recognized as a distinct disease entity. One reason is that its symptoms overlap greatly with those of other vestibular disorders, especially Meniere disease (MD. The pathophysiology of neither VM nor MD is entirely elucidated. However, there are many theories linking migraine to both disorders. We reviewed the current understanding of migraine, VM, and MD and described how VM and MD are similar or different from each other in terms of pathophysiology and presentation, including hypotheses that the two share a common etiology and/or are variants of the same disease.

  4. Changes in mineralised tissue at the site of origin of condylar fracture are present before athletic training in Thoroughbred horses.

    Science.gov (United States)

    Firth, E C; Doube, M; Boyde, A

    2009-10-01

    To show that changes are present at the site of origin of metacarpal condylar fracture in young Thoroughbred horses before they enter race training. Bone slices, 2 mm thick, in three mediolateral planes through the centre of rotation of the metacarpo-phalangeal joint (MCPJ) of both distal third metacarpal bones (Mc3) of 12 Thoroughbred horses aged 17 months, were imaged using point-projection digital X-ray imaging (muXR). In some horses, linear or ovoid radiolucency was found in articular calcified cartilage (ACC) and subchondral bone of the palmaro-distal aspect of the sagittal groove, exactly at the site of more advanced stages of condylar fatigue fracture. An incidental finding was ovoid radiolucency in the apex of the dorso-distal aspect of the sagittal ridge, with or without fragmentation or disturbance of the subchondral mineralised tissue line, resembling equine osteochondrosis. The findings imply that the aetiology of condylar fatigue fracture in young Thoroughbred horses includes abnormality in development of the bone and joint that is present before athletic activity occurs.

  5. Presentation of life-threatening invasive nontyphoidal Salmonella disease in Malawian children: A prospective observational study.

    Science.gov (United States)

    MacLennan, Calman A; Msefula, Chisomo L; Gondwe, Esther N; Gilchrist, James J; Pensulo, Paul; Mandala, Wilson L; Mwimaniwa, Grace; Banda, Meraby; Kenny, Julia; Wilson, Lorna K; Phiri, Amos; MacLennan, Jenny M; Molyneux, Elizabeth M; Molyneux, Malcolm E; Graham, Stephen M

    2017-12-01

    Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006. Data on clinical presentation, co-morbidities and outcome were used to identify children at risk of inpatient mortality through logistic-regression modeling. Over one calendar year, 263 consecutive children presented with invasive Salmonella disease. Median age was 16 months (range 0-15 years) and 52/256 children (20%; 95%CI 15-25%) died. Nontyphoidal serovars caused 248/263 (94%) of cases. 211/259 (81%) of isolates were multi-drug resistant. 251/263 children presented with bacteremia, 6 with meningitis and 6 with both. Respiratory symptoms were present in 184/240 (77%; 95%CI 71-82%), 123/240 (51%; 95%CI 45-58%) had gastrointestinal symptoms and 101/240 (42%; 95%CI 36-49%) had an overlapping clinical syndrome. Presentation at Salmonella disease in Malawi is characterized by high mortality and prevalence of multi-drug resistant isolates, along with non-specific presentation. Young infants, children with dyspnea and HIV-infected children bear a disproportionate burden of the Salmonella-associated mortality in Malawi. Strategies to improve prevention, diagnosis and management of invasive Salmonella disease should be targeted at these children.

  6. Cat scratch disease presenting as increased intracranial pressure and aseptic meningitis

    Directory of Open Access Journals (Sweden)

    Ahmad Ameilia

    2015-06-01

    Full Text Available Ocular cat scratch disease (CSD is a condition attributed to infection by Bartonella sp. This condition commonly presents as neuroretinitis. Increased intracranial pressure and aseptic meningitis are rare presentation of CSD. We highlight a case of a 17-year-old female who presented with aseptic meningitis with neuroretinitis and raised intracranial pressure. The patient showed dramatic improvement with antibiotics and her neurological deficits recovered completely within 6 weeks of treatment.

  7. INCREASED TISSUE TRANSGLUTAMINASE LEVELS ARE ASSOCIATED WITH INCREASED EPILEPTIFORM ACTIVITY IN ELECTROENCEPHALOGRAPHY AMONG PATIENTS WITH CELIAC DISEASE

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    Sedat IŞIKAY

    2015-12-01

    Full Text Available Background - Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion. Objective - In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease. Methods - A total of 175 children with the diagnosis of celiac disease (study group and 99 age- and sex-matched healthy children as controls (control group were included in the study. In order to determine the effects of gluten free diet on laboratory and electroencephalography findings, the celiac group is further subdivided into two as newly-diagnosed and formerly-diagnosed patients. Medical histories of all children and laboratory findings were all recorded and neurologic statuses were evaluated. All patients underwent a sleep and awake electroencephalography. Results - Among 175 celiac disease patients included in the study, 43 were newly diagnosed while 132 were formerly-diagnosed patients. In electroencephalography evaluation of patients the epileptiform activity was determined in 4 (9.3% of newly diagnosed and in 2 (1.5% of formerly diagnosed patients; on the other hand the epileptiform activity was present in only 1 (1.0% of control cases. There was a statistically significant difference between groups in regards to the presence of epileptiform activity in electroencephalography. Pearson correlation analysis revealed that epileptiform activity in both sleep and awake electroencephalography were positively correlated with tissue transglutaminase levels (P=0.014 and P=0.019, respectively. Conclusion - We have determined an increased epileptiform activity frequency among newly-diagnosed celiac disease patients compared with formerly-diagnosed celiac disease patients and control cases. Moreover the tissue transglutaminase levels were also correlated with the presence of epileptiform activity in electroencephalography. Among newly diagnosed celiac disease patients

  8. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  9. Scleroderma renal crisis in a case of mixed connective tissue disease

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    Mukul Vij

    2014-01-01

    Full Text Available Mixed connective tissue disease (MCTD is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma and polymyositis. Scleroderma renal crisis (SRC is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.

  10. A Case of Phosphoglyceride Crystal Deposition Disease in the Pelvic Soft Tissues Recurring after Initial Surgery

    Directory of Open Access Journals (Sweden)

    Yuki Yamada

    2015-01-01

    Full Text Available Phosphoglyceride crystal deposition disease (PGDD is a rare disease entity that is characterized by phosphoglyceride crystal deposition that stimulates the formation of masses in soft tissue scars or bones. We report a case of PGDD in the pelvic soft tissues that recurred after initial surgical treatment. A 50-year-old woman was referred to our hospital for the evaluation of pelvic masses that were observed on an abdominal ultrasound. Magnetic resonance imaging (MRI revealed masses in the pelvic region, with the largest being 10 cm in diameter. The masses were diagnosed as ovarian malignant tumors, and an exploratory laparotomy was performed. Operative findings revealed them to be foreign body granulomas, and the patient was diagnosed with PGDD. The patient had a history of cesarean delivery at the age of 24 years. PGDD is extremely rare, but it should be considered in the differential diagnosis of abdominal masses in patients with a history of abdominal surgery.

  11. [Fungal invasion of connective tissue in patients with gingival-periodontal disease].

    Science.gov (United States)

    Rubio, Nicolás Agustín; Puia, Sebastian; Toranzo, Silvia; Brusca, María Isabel

    2015-01-01

    In the last few years unusual microorganisms have been isolated from subgingival biofilm, as possible initiators or contributors to periodontal disease, especially in patients who show no improvement during treatment. To study the Candida invasion of the connective tissue in relation to subgingival biofilm presence. A total of 55 immunocompetent patients of both sexes, between 21 and 55 years of age, non-smokers, without previous antimicrobial treatment, suffering periodontal diseases, were studied. Soft tissues, supragingival and subgingival plaque samples, and periodontal pocket biopsies were taken. Microscopic studies, cultures, assimilation profiles, and DNA amplifications were performed. In 35% of the samples, different species of Candida were isolated in cultures, especially Candida albicans. Hyphae invasions in the connective tissue were observed, in association with anaerobic microorganisms (Porphyromonas gingivalis, Prevotella intermedia and Aggregatibacter actinomycetemcomitans) in patients with periodontitis. Different species of Candida could be part of the periodontal plaque and could play an important role in the adherence to soft tissues, allowing deep invasion. They also could infect gingival pockets in patients with gingivitis, even in healthy locations, playing a commensal or opportunist role. Copyright © 2011 Revista Iberoamericana de Micología. Published by Elsevier Espana. All rights reserved.

  12. Anti-Nuclear antibodies: Current concepts and future direction for diagnosing connective tissue disease

    OpenAIRE

    K Gautam

    2015-01-01

    Identification of antinuclear antibodies has been used for the diagnosis of connective tissue diseases for more than fifty years. Indirect immunofluorescence on human epithelial (HEp-2) cells is considered the gold standard screening method for the detection of antinuclear autoantibodies. As the demand of ANA testing increased, the need for automation and standardization has also come forth. A high level of false positive and false negative cases is seen in various populations making it diffi...

  13. Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases.

    Science.gov (United States)

    Tylki-Szymańska, A; Maciejko, D; Kidawa, M; Jabłońska-Budaj, U; Czartoryska, B

    1985-01-01

    This communication reports the clinical and biochemical results in six patients: four with mucopolysaccharidosis, one with GM1 gangliosidosis (Morquio B) and one with I-cell disease, who were treated by amniotic tissue transplantation. The sole evident clinical result was the diminishing of corneal clouding in three cases. A slight increase of beta-galactosidase activity in one patient's plasma was observed. The time of improvement was about 2 months after the transplantation and was transitory.

  14. Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease

    Directory of Open Access Journals (Sweden)

    Feng Yan

    2014-08-01

    Full Text Available Porphyria cutanea tarda (PCT with ocular complications are rarely reported. To the best of our knowledge, no reports exist on allogeneic corneoscleral limbus tissue transplantation for treatment of these. Amniotic membrane grafting had been performed in their patient suffering from porphyria eye disease, but necrosis developed in the grafts. Nevertheless, in our patient, allogeneic corneoscleral limbus transplantation prevented necrosis from development at corneoscleral limbus. So we considered that the allogeneic corneoscleral limbus transplantation might be an option to repair the necrosis in porphyria eye disease with avoiding sunlight and using artificial tear drops.

  15. Evidence Report: Risk of Cardiovascular Disease and Other Degenerative Tissue Effects from Radiation Exposure

    Science.gov (United States)

    Patel, Zarana; Huff, Janice; Saha, Janapriya; Wang, Minli; Blattnig, Steve; Wu, Honglu; Cucinotta, Francis

    2015-01-01

    Occupational radiation exposure from the space environment may result in non-cancer or non-CNS degenerative tissue diseases, such as cardiovascular disease, cataracts, and respiratory or digestive diseases. However, the magnitude of influence and mechanisms of action of radiation leading to these diseases are not well characterized. Radiation and synergistic effects of radiation cause DNA damage, persistent oxidative stress, chronic inflammation, and accelerated tissue aging and degeneration, which may lead to acute or chronic disease of susceptible organ tissues. In particular, cardiovascular pathologies such as atherosclerosis are of major concern following gamma-ray exposure. This provides evidence for possible degenerative tissue effects following exposures to ionizing radiation in the form of the GCR or SPEs expected during long-duration spaceflight. However, the existence of low dose thresholds and dose-rate and radiation quality effects, as well as mechanisms and major risk pathways, are not well-characterized. Degenerative disease risks are difficult to assess because multiple factors, including radiation, are believed to play a role in the etiology of the diseases. As additional evidence is pointing to lower, space-relevant thresholds for these degenerative effects, particularly for cardiovascular disease, additional research with cell and animal studies is required to quantify the magnitude of this risk, understand mechanisms, and determine if additional protection strategies are required.The NASA PEL (Permissive Exposure Limit)s for cataract and cardiovascular risks are based on existing human epidemiology data. Although animal and clinical astronaut data show a significant increase in cataracts following exposure and a reassessment of atomic bomb (A-bomb) data suggests an increase in cardiovascular disease from radiation exposure, additional research is required to fully understand and quantify these adverse outcomes at lower doses (less than 0.5 gray

  16. A Study of Clinical Presentation and Correlative Histopathological Patterns in Renal Parenchymal Disease.

    Science.gov (United States)

    Ganesh, K; Nair, R R; Seethalekshmy, N V; Kurian, G; Mathew, A; Sreedharan, S; Paul, Z

    2018-01-01

    Suspicion and subsequent detection of renal disease is by an assessment of the urinalysis and renal function in the clinical context. Our attempt in this study is to correlate initial presenting features of urinalysis and renal function to the final histopathological diagnosis. A retrospective analysis of 1059 native kidney biopsies performed from January 2002 to June 2015 at Amrita Institute of Medical Sciences was conducted. Correlative patterns between urinalysis, renal function, and final histopathological diagnosis were studied. Five hundred and eleven (48%) patients had nephrotic syndrome. Out of these, 193 (38%) had pure: nephrotic syndrome, 181 (35.8%) had associated microhematuria, 110 (21.7%) had microhematuria and renal failure, and 27 (5.3%) had only associated renal failure. Minimal change disease (MCD) (30%), membranous nephropathy (30%), and IgA nephropathy (29%) were the major diseases in the respective groups. Five hundred and five (47.6%) patients had subnephrotic proteinuria. Out of these, 29 (5.6%) had only subnephrotic proteinuria, 134 (27%) had additional microhematuria, 300 (59%) had subnephrotic proteinuria, microhematuria, and renal failure, and 42 (8%) had subnephrotic proteinuria with renal failure. Lupus Nephritis (45% and 40%) and IgA Nephropathy (32% and 21%) were the major disorders in the subgroups respectively. Forty-two patients (3.7%) were biopsied for isolated renal failure with bland urinary sediment. Cast nephropathy and acute interstitial nephritis were the major diseases. Out of 89 patients with diabetes who were biopsied, 15 (16.8%) had diabetic nephropathy, 45 (50.5%) had no diabetic nephropathy, and 29 (32.5%) had diabetic nephropathy along with a non-diabetic renal disease. Postinfectious glomerulonephritis was the major glomerular disease. IgA nephropathy (22.2%) and membranous nephropathy (15.5%) were the major diseases in patients with diabetes with no diabetic nephropathy. In our population, MCD and membranous

  17. Tissue Chips to aid drug development and modeling for rare diseases.

    Science.gov (United States)

    Low, Lucie A; Tagle, Danilo A

    2016-01-01

    The technologies used to design, create and use microphysiological systems (MPS, "tissue chips" or "organs-on-chips") have progressed rapidly in the last 5 years, and validation studies of the functional relevance of these platforms to human physiology, and response to drugs for individual model organ systems, are well underway. These studies are paving the way for integrated multi-organ systems that can model diseases and predict drug efficacy and toxicology of multiple organs in real-time, improving the potential for diagnostics and development of novel treatments of rare diseases in the future. This review will briefly summarize the current state of tissue chip research and highlight model systems where these microfabricated (or bioengineered) devices are already being used to screen therapeutics, model disease states, and provide potential treatments in addition to helping elucidate the basic molecular and cellular phenotypes of rare diseases. Microphysiological systems hold great promise and potential for modeling rare disorders, as well as for their potential use to enhance the predictive power of new drug therapeutics, plus potentially increase the statistical power of clinical trials while removing the inherent risks of these trials in rare disease populations.

  18. Free radicals and related reactive species as mediators of tissue injury and disease: implications for Health.

    Science.gov (United States)

    Kehrer, James P; Klotz, Lars-Oliver

    2015-01-01

    A radical is any molecule that contains one or more unpaired electrons. Radicals are normal products of many metabolic pathways. Some exist in a controlled (caged) form as they perform essential functions. Others exist in a free form and interact with various tissue components. Such interactions can cause both acute and chronic dysfunction, but can also provide essential control of redox regulated signaling pathways. The potential roles of endogenous or xenobiotic-derived free radicals in several human pathologies have stimulated extensive research linking the toxicity of numerous xenobiotics and disease processes to a free radical mechanism. In recent years, improvements in analytical methodologies, as well as the realization that subtle effects induced by free radicals and oxidants are important in modulating cellular signaling, have greatly improved our understanding of the roles of these reactive species in toxic mechanisms and disease processes. However, because free radical-mediated changes are pervasive, and a consequence as well as a cause of injury, whether such species are a major cause of tissue injury and human disease remains unclear. This concern is supported by the fact that the bulk of antioxidant defenses are enzymatic and the findings of numerous studies showing that exogenously administered small molecule antioxidants are unable to affect the course of most toxicities and diseases purported to have a free radical mechanism. This review discusses cellular sources of various radical species and their reactions with vital cellular constituents, and provides examples of selected disease processes that may have a free radical component.

  19. Ectopic Tertiary Lymphoid Tissue in Inflammatory Bowel Disease: Protective or Provocateur?

    Science.gov (United States)

    McNamee, Eóin N.; Rivera-Nieves, Jesús

    2016-01-01

    Organized lymphoid tissues like the thymus first appeared in jawed vertebrates around 500 million years ago and have evolved to equip the host with a network of specialized sites, strategically located to orchestrate strict immune-surveillance and efficient immune responses autonomously. The gut-associated lymphoid tissues maintain a mostly tolerant environment to dampen our responses to daily dietary and microbial products in the intestine. However, when this homeostasis is perturbed by chronic inflammation, the intestine is able to develop florid organized tertiary lymphoid tissues (TLT), which heralds the onset of regional immune dysregulation. While TLT are a pathologic hallmark of Crohn’s disease (CD), their role in the overall process remains largely enigmatic. A critical question remains; are intestinal TLT generated by the immune infiltrated intestine to modulate immune responses and rebuild tolerance to the microbiota or are they playing a more sinister role by generating dysregulated responses that perpetuate disease? Herein, we discuss the main theories of intestinal TLT neogenesis and focus on the most recent findings that open new perspectives to their role in inflammatory bowel disease. PMID:27579025

  20. Ectopic Tertiary Lymphoid Tissue in Inflammatory Bowel Disease: Protective or Provocateur?

    Science.gov (United States)

    McNamee, Eóin N; Rivera-Nieves, Jesús

    2016-01-01

    Organized lymphoid tissues like the thymus first appeared in jawed vertebrates around 500 million years ago and have evolved to equip the host with a network of specialized sites, strategically located to orchestrate strict immune-surveillance and efficient immune responses autonomously. The gut-associated lymphoid tissues maintain a mostly tolerant environment to dampen our responses to daily dietary and microbial products in the intestine. However, when this homeostasis is perturbed by chronic inflammation, the intestine is able to develop florid organized tertiary lymphoid tissues (TLT), which heralds the onset of regional immune dysregulation. While TLT are a pathologic hallmark of Crohn's disease (CD), their role in the overall process remains largely enigmatic. A critical question remains; are intestinal TLT generated by the immune infiltrated intestine to modulate immune responses and rebuild tolerance to the microbiota or are they playing a more sinister role by generating dysregulated responses that perpetuate disease? Herein, we discuss the main theories of intestinal TLT neogenesis and focus on the most recent findings that open new perspectives to their role in inflammatory bowel disease.

  1. [Present and premorbid self-image in patients with coronary heart disease].

    Science.gov (United States)

    Pawłowska, Beata; Opolska, Aneta; Papuć, Ewa; Witczak, Władysław

    2006-01-01

    The aim of this study was to find the differences between premorbid and present self-image in patients with coronary heart disease. 70 patients with stable coronary heart disease treated at the Internal Medicine Department of the Military Hospital in Lublin and 70 healthy controls were studied. Mean age of the investigated patients was 53.11 years. 77% of the studied patients were city inhabitants and 23% were countryside dwellers. Subjects were studied with the use of the State-Trait Anxiety Inventory, by the Adjective Check List (ACL) and a questionnaire designed especially for the study of sociodemographic data of the investigated patients. Premorbid and present self-images were compared with the use of the ANOVA test. Our results showed that there are statistically significant differences between premorbid and present self-image in the perception of patients with coronary heart disease. 1. In present self-image, compared to the premorbid one, patients with coronary heart disease have low self-esteem, greater fear about the future, low endurance in performing tasks, they are less enterprising, have lower ability to overcome stress, they are more dependent and have a greater need to look for safety. 2. Women with coronary heart disease perceive themselves as having low self-esteem, low self-trust, more difficulties in overcoming stress and a lower ability to understand other people's behaviour as compared to the time before the disease. 3. Men with coronary heart disease perceive themselves as having less endurance, being less enterprising, having a negative attitude towards themselves and other people and being more dependant compared to the time before the illness.

  2. Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues

    DEFF Research Database (Denmark)

    Harboe, Theresa Larriba; Willems, Patrick; Jespersgaard, Cathrine

    2011-01-01

    , peripheral leukocytes and hair revealed an uneven distribution of the mutated allele, from 14% in semen to 37% in affected skin. We suggest a model for segmental manifestation expression where a threshold number of mutated cells is needed for manifestation development. We further recommend molecular analysis...... of transmitting a nonsegmental phenotype to offspring is of unknown magnitude. We present the first in-depth molecular analysis of a mosaic patient with segmental disease, quantifying proportions of mutated and normal alleles in various tissues. Pyrosequence analysis of DNA from semen, affected and normal skin...

  3. Identification of Viruses Present in Tissues Collected from Chickens with Hypoglycemia-Spiking Mortality Syndrome (H-SMS).

    Science.gov (United States)

    Tissues were collected, over a 10-year period, from broiler chickens diagnosed with severe H-SMS at the Georgia Poultry Lab, in Oakwood, GA. All samples were stored in tissue culture media, with antibiotics and 15% fetal bovine serum, in an ultra-cold freezer @ -80F. Specimens were homogenized,...

  4. Visceral Adipose Tissue and Leptin Hyperproduction Are Associated With Hypogonadism in Men With Chronic Kidney Disease.

    Science.gov (United States)

    Cobo, Gabriela; Cordeiro, Antonio C; Amparo, Fernanda Cassulo; Amodeo, Celso; Lindholm, Bengt; Carrero, Juan Jesús

    2017-07-01

    Hypogonadism is a common endocrine disorder in men with chronic kidney disease (CKD), but its pathophysiology is poorly understood. We here explore the plausible contribution of abdominal adiposity and leptin hyperproduction to testosterone deficiency in this patient population. Cross-sectional analysis with all men included the Malnutrition, Inflammation and Vascular Calcification cohort, which enrolled consecutive nondialyzed patients with CKD stages 3-5. A total of 172 men with CKD stages 3-5 nondialysis (median age 61 [45-75] years, median glomerular filtration rate 24 [9-45] mL/min/1.73 m 2 ). In them, serum levels of total testosterone, estrogen, sex hormone binding globulin, and leptin were quantified, together with visceral adipose tissue (VAT) by thoracic and abdominal CT scan. None, observational study. Total testosterone, hypogonadism. The median level of total testosterone was 11.7 (7.3-18.4) nmol/L, with hypogonadism (<10 nmol/L) present in 52 (30%) patients. Testosterone-deficient patients presented with significantly higher body mass index, waist circumference, and VAT. An inverse correlation between testosterone and VAT (rho = -0.25, P = .001) or waist circumference (rho = -0.20, P = .008) was found, also after multivariate adjustment including sex hormone binding globulin and estrogen. Total testosterone was inversely correlated with serum leptin (rho = -0.22, P = .003), and the ratio of leptin/VAT, an index of leptin hyperproduction, was strongly and independently associated with the prevalence of hypogonadism in multivariable regression analyses. Visceral adiposity independently associated with lower testosterone levels among men with CKD stage 3-5 nondialysis. The observed link between hyperleptinemia and hypogonadism is in line with previous evidence on direct effects of leptin on testosterone production. Copyright © 2017 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  5. Ectopic Oral Tonsillar Tissue: A Case Series with Bilateral and Solitary Presentations and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Masashi Kimura

    2015-01-01

    Full Text Available An ectopic tonsil is defined as tonsillar tissue that develops in areas outside of the four major tonsil groups: the palatine, lingual, pharyngeal, and tubal tonsils. The occurrence of tonsillar tissue in the oral cavity in ectopic locations, its prevalence, and its developmental mechanisms that belong to its formation remain unclear. In this report, we describe a rare case of bilateral symmetric ectopic oral tonsillar tissue located at the ventral surface of the tongue along with two solitary cases arising from the floor of the mouth. The role of immune system and its aberrant response leading to ectopic deposits desires further studies. As an ectopic tonsil may simulate a benign soft tissue tumor, this case series highlights the importance of this entity in our clinical differential diagnosis of oral soft tissue masses.

  6. Pulmonary MR imaging with ultra-short TEs: Utility for disease severity assessment of connective tissue disease patients

    International Nuclear Information System (INIS)

    Ohno, Yoshiharu; Nishio, Mizuho; Koyama, Hisanobu; Takenaka, Daisuke; Takahashi, Masaya; Yoshikawa, Takeshi; Matsumoto, Sumiaki; Obara, Makoto; Cauteren, Marc van; Sugimura, Kazuro

    2013-01-01

    Purpose: To evaluate the utility of pulmonary magnetic resonance (MR) imaging with ultra-short echo times (UTEs) at a 3.0 T MR system for pulmonary functional loss and disease severity assessments of connective tissue disease (CTD) patients with interstitial lung disease (ILD). Materials and methods: This prospective study was approved by the institutional review board, and written informed consent was obtained from 18 CTD patients (eight men and ten women) and eight normal subjects with suspected chest disease (three men and five women). All subjects underwent thin-section MDCT, pulmonary MR imaging with UTEs, pulmonary function test and serum KL-6. Regional T2* maps were generated from each MR data set, and mean T2* values were determined from ROI measurements. From each thin-section MDCT data set, CT-based disease severity was evaluated with a visual scoring system. Mean T2* values for normal and CTD subjects were statistically compared by using Student's t-test. To assess capability for pulmonary functional loss and disease severity assessments, mean T2* values were statistically correlated with pulmonary functional parameters, serum KL-6 and CT-based disease severity. Results: Mean T2* values for normal and CTD subjects were significantly different (p = 0.0019) and showed significant correlations with %VC, %DL CO , serum KL-6 and CT-based disease severity of CTD patients (p < 0.05). Conclusion: Pulmonary MR imaging with UTEs is useful for pulmonary functional loss and disease severity assessments of CTD patients with ILD

  7. Iron-deficiency anemia as a subclinical celiac disease presentation in an Argentinian population.

    Science.gov (United States)

    Lasa, J S; Olivera, P; Soifer, L; Moore, R

    There is a wide heterogeneity in the reports of celiac disease prevalence in iron-deficiency anemia patients. To determine the prevalence of celiac disease in patients with iron-deficiency anemia. Adult patients with a diagnosis of iron-deficiency anemia were enrolled for upper endoscopy with duodenal biopsies. Healthy volunteers that underwent upper endoscopy were enrolled as controls. A total of 135 patients with iron-deficiency anemia and 133 controls were enrolled. Celiac disease prevalence was higher in the iron-deficiency anemia group [11.11 vs. 1.51%, OR: 8.18 (1.83-36.55), P=.001). Of the celiac disease patients in the iron-deficiency anemia group, 73.3% had at least one endoscopic sign suggesting villous atrophy, whereas 100% of the celiac disease patients in the control group presented with at least one endoscopic sign. Patients with iron-deficiency anemia have an increased risk for celiac disease. Up to 25% of these patients may not present any endoscopic sign suggesting villous atrophy. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

  8. Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.

    Science.gov (United States)

    McNamara, Erin R; Sullivan, Jennifer; Nagaraj, Shashi K; Wiener, John S; Kishnani, Priya S

    2015-01-01

    Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creating a catheterizable stoma, using his appendix, to empty his bladder, and surgical findings were consistent with neurogenic bladder. He continues to be managed for his Gaucher disease and neurogenic bladder by genetics, nephrology and urology. This is the first clinical report of neurogenic bladder dysfunction in neuronopathic Gaucher disease.

  9. Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

    Directory of Open Access Journals (Sweden)

    Michelle M Axford

    Full Text Available Slipped-strand DNAs, formed by out-of-register mispairing of repeat units on complementary strands, were proposed over 55 years ago as transient intermediates in repeat length mutations, hypothesized to cause at least 40 neurodegenerative diseases. While slipped-DNAs have been characterized in vitro, evidence of slipped-DNAs at an endogenous locus in biologically relevant tissues, where instability varies widely, is lacking. Here, using an anti-DNA junction antibody and immunoprecipitation, we identify slipped-DNAs at the unstable trinucleotide repeats (CTGn•(CAGn of the myotonic dystrophy disease locus in patient brain, heart, muscle and other tissues, where the largest expansions arise in non-mitotic tissues such as cortex and heart, and are smallest in the cerebellum. Slipped-DNAs are shown to be present on the expanded allele and in chromatinized DNA. Slipped-DNAs are present as clusters of slip-outs along a DNA, with each slip-out having 1-100 extrahelical repeats. The allelic levels of slipped-DNA containing molecules were significantly greater in the heart over the cerebellum (relative to genomic equivalents of pre-IP input DNA of a DM1 individual; an enrichment consistent with increased allelic levels of slipped-DNA structures in tissues having greater levels of CTG instability. Surprisingly, this supports the formation of slipped-DNAs as persistent mutation products of repeat instability, and not merely as transient mutagenic intermediates. These findings further our understanding of the processes of mutation and genetic variation.

  10. PPARgamma-2 and ADRB3 polymorphisms in connective tissue diseases and lipid disorders

    Directory of Open Access Journals (Sweden)

    Grygiel-Górniak B

    2018-03-01

    Full Text Available Bogna Grygiel-Górniak,1 Iwona Ziółkowska-Suchanek,2 Elżbieta Kaczmarek,3 Maria Mosor,2 Jerzy Nowak,2 Mariusz Puszczewicz1 1Department of Rheumatology and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland; 2Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland; 3Department of Bioinformatics and Computational Biology, Poznan University of Medical Sciences, Poznan, Poland Background: The aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala of the peroxisome proliferator-activated receptor (PPARgamma-2 gene, Trp64Arg polymorphism of the beta-3-adrenergic receptor gene and lipid profile in Polish population including group of 103 patients with connective tissue disease (CTD and 103 sex- and age-matched controls in context of statin use. Methods: Anthropometric and biochemical parameters were measured by routine methods, followed by genotyping (TagMan® Genotyping Assays, PCR-restriction fragment length polymorphism analysis. Nearly 30% of CTD patients used statins and 10% of the control group. Results: Although there were no differences between alleles and genotypes prevalence between CTD vs control groups, interesting lipid-gene associations were noted in this study. A higher level of triglycerides (TAG and TAG/high-density lipoprotein (HDL ratios was observed in CTD patients compared to controls. Similar differences were noted in CTD and control groups without statin treatment. Atherogenic markers: the atherogenic index of plasma, TAG/HDL and low-density lipoprotein/HDL ratio were low in the analyzed groups. Of the six analyzed polymorphisms, the Pro12Pro or C14131C or Trp64Trp genotypes were related to higher TAG and TAG/HDL ratios in patients with CTD; however, the highest TAG values were observed in the presence of the Trp64Trp genotype. Conclusion: Lipid disorders were present in both groups independent of statin treatment (mixed dyslipidemia and

  11. The present and the future in the diagnosis and management of celiac disease

    Science.gov (United States)

    Castillo, Natalia E.; Theethira, Thimmaiah G.; Leffler, Daniel A.

    2015-01-01

    Celiac disease is an autoimmune enteropathy caused by gluten in genetically predisposed individuals. In celiac disease, adaptive and innate immune activation results in intestinal damage and a wide range of clinical manifestations. In the past, celiac disease was thought to result in signs and symptoms solely related to the gastrointestinal tract. Now, more than half of the adult population presents with extra-intestinal manifestations that can also be expected to improve on a gluten-free diet. For this reason, it is recommended that physicians have a low threshold of suspicion for celiac disease. Current knowledge of the immune pathogenesis of this autoimmune disease has served as a catalyst for the development of novel diagnostic tools and therapeutics. Over the years, highly sensitive and specific serological assays, in addition to genetic markers, have been found to target specific steps in the cascade pathway of celiac disease. Also the advent of the gluten challenge has enabled experts to design diagnostic algorithms and monitor clinical responses in clinical trials. The gluten challenge has provided substantial benefit in the advance of novel therapeutics as an adjuvant treatment to the gluten free diet. Generally, a strict gluten-free diet is highly burdensome to patients and can be limited in its efficacy. Alternative therapies—including gluten modification, modulation of intestinal permeability and immune response—could be central to the future treatment of celiac disease. PMID:25326000

  12. Localized pulmonary crystal-storing histiocytosis complicating pulmonary mucosa-associated lymphoid tissue lymphoma presenting with multiple mass lesions.

    Science.gov (United States)

    Kokuho, Nariaki; Terasaki, Yasuhiro; Kunugi, Shinobu; Onda, Naomi; Urushiyama, Hirokazu; Terasaki, Mika; Hino, Mitsunori; Gemma, Akihiko; Hatori, Tsutomu; Shimizu, Akira

    2017-07-01

    Crystal-storing histiocytosis (CSH) is an uncommon finding in lymphoplasmacytic disorders that presents histiocytes with abnormal intralysosomal accumulations of immunoglobulin light chains as crystals of unknown etiology. A 38-year-old woman with antiphospholipid syndrome had a surgical lung biopsy because of multiple lung mass lesions. In a right middle lobe lesion, lymphoplasmacytic cells had a monocytoid appearance, destructive lymphoepithelial lesions, and positive immunoglobulin heavy chain (IGH) gene rearrangements. A right upper lobe lesion manifested proliferating rounded histiocytes with abundant, deeply eosinophilic cytoplasm and negative IGH gene rearrangements. Electron microscopy and mass spectrometry revealed a case of pulmonary CSH: abnormal proliferation of the immunoglobulin κ chain of a variable region that may be crystallized within plasma cells and histiocytes. We report a rare case of localized pulmonary CSH complicating pulmonary mucosa-associated lymphoid tissue lymphoma with multiple mass lesions. We demonstrate advances in the understanding of the pathogenesis of CSH by various analyses of these lesions. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Bone tissue formation in extraction sockets from sites with advanced periodontal disease: a histomorphometric study in humans.

    Science.gov (United States)

    Ahn, Jae-Jin; Shin, Hong-In

    2008-01-01

    To investigate postextraction bone formation over time in both diseased and healthy sockets. Core specimens of healing tissues following tooth extraction were obtained at the time of implant placement in patients treated between October 2005 and December 2007. A disease group and a control group were classified according to socket examination at the time of extraction. The biopsy specimens were analyzed histomorphometrically to measure the dimensional changes among 3 tissue types: epithelial layer, connective tissue area, and new bone tissue area. Fifty-five specimens from sites of previously advanced periodontal disease from 45 patients were included in the disease group. Another 12 specimens of previously healthy extraction sockets were collected from 12 different patients as a control. The postextraction period of the disease group varied from 2 to 42 weeks. In the disease group, connective tissue occupied most of the socket during the first 4 weeks. New bone area progressively replaced the connective tissue area after the first 4 weeks. The area proportion of new bone tissue exceeded that of connective tissue by 14 weeks. After 20 weeks, most extraction sockets in the disease group demonstrated continuous new bone formation. The control group exhibited almost complete socket healing after 10 weeks, with no more new bone formation after 20 weeks. Osseous regeneration in the diseased sockets developed more slowly than in the disease-free sockets. After 16 weeks, new bone area exceeded 50% of the total newly regenerated tissue in the sockets with severe periodontal destruction. In the control group, after 8 weeks, new bone area exceeded 50% of the total tissue.

  14. Anaesthetic management of patients with congenital heart disease presenting for non-cardiac surgery.

    Directory of Open Access Journals (Sweden)

    Mohindra R

    2002-01-01

    Full Text Available The incidence of congenital heart disease is about one percent of all live births in the United States. Treatment is being performed at a younger age and these children are showing improved survival. It is not unusual for children with congenital heart disease to present for non-cardiac surgery. Their management depends on their age, type of lesion, extent of corrective procedure, the presence of complications and other congenital anomalies. Each patient needs a detailed pre-operative evaluation to understand the abnormal anatomy and physiology, and related anaesthetic implications. No anaesthetic agent is an absolute contraindication, although drugs beneficial for one lesion may be detrimental for another. Regional anaesthesia has also been safely used in children with congenital heart disease. However the anaesthesiologist must have a detailed understanding of the pathophysiology of the lesion and the pharmacology of drugs being used to be able to provide safe anaesthesia for children with congenital heart disease.

  15. Changes in haemostasis and thrombosis associated with thyroid disease: Presentation of 2 cases.

    Science.gov (United States)

    Rodilla Fiz, A M; Garví López, M; Gómez Garrido, M; Girón la Casa, M

    2016-01-01

    There is a relationship between thyroid diseases and primary and secondary changes in haemostasis. The most frequent association between them are hypocoagulability states with clinical hypothyroidism and vascular thrombophilia (hypercoagulability and/or hypofibrinolysis) with hyperparathyroidism. However, there are recent studies that have detected changes in haemostasis -primary and secondary- associated with thyroid diseases with normal hormone levels, suggesting other pathogenic mechanisms not yet known. The cases are presented of 2 patients with thyroid disease that required surgery: one multinodular goitre and one papillary carcinoma of the thyroid, both with normal hormone levels. They were shown to have haemostasis disorders during the preoperative work up. These showed a Factor VII deficiency and a Factor XI deficiency along with a thrombotic disease of unknown origin, respectively. Copyright © 2015 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Addison's disease presenting as acute chest syndrome: case report and review of literature.

    Science.gov (United States)

    Akpa, M R; Odia, O J

    2006-01-01

    Addison's disease is due to primary adrenal failure. It is an uncommon condition with equal prevalence in both males and females. The onset of symptoms is gradual and manifestation is non specific, hence diagnosis is easily missed without a high index of suspicion. The medical records of a patient who presented with acute chest pain to the cardiac unit of the University of Port Harcourt Teaching Hospital were reviewed. A review of the literature using manual library and Medline search on Addison's disease was also done. A 48 years old male presented in our medical outpatient department with a three day history of sudden onset of severe precordial chest pain that started while playing football which was associated with nausea, vomiting and difficulty in breathing. After initial clinical evaluation a diagnosis of acute myocardial infarction and cardiac failure with a suspicion of background Addison's disease was made. Serial electrocardiography done over a two week period did not show evidence of myocardial infarction, but the patient had elevated serum ACTH and very low serum cortisol levels. An abdominal CT scan done two weeks after admission showed absence of the Adrenal glands bilaterally, confirming Addison's disease. He received treatment for cardiac failure, analgesics, prednisolone and a mineralocorticoid to which he responded satisfactorily and has remained healthy. He also received a six months course of antituberculous treatment empirically. Addison's disease is an uncommon endocrine disorder which can present insidiously in a non specific manner. Diagnosis requires a high index of suspicion.

  17. Diverticular disease of the colon presenting as pyometra: a case report.

    Science.gov (United States)

    Pankaja, Susmita; Rrukaj, Astrit; Bathula, Uma

    2014-05-04

    Pyometra can be caused by various etiologies. We present a rare case of diverticular disease of the colon presenting as pyometra. This type of presentation can be challenging even for an astute clinician. A 74-year-old Caucasian woman with a history of pyometra was referred to our gynecology clinic as an urgent case. She was obese, diabetic and hypertensive. Due to the patient profile and the clinical presentation, clinicians were misled toward a diagnosis of possible endometrial cancer. After further investigations, she was found to have colouterine fistula secondary to a diverticular abscess of the sigmoid colon. Persistent vaginal discharge due to pyometra can be caused by diverticular disease of the colon. Clinicians should be aware of this important differential diagnosis.

  18. Frequency of different valvular lesions of rheumatic heart disease presenting to a tertiary care hospital

    International Nuclear Information System (INIS)

    Rehman, J.U.; Shah, I.

    2015-01-01

    Rheumatic Hearth Disease (RHD) is still prevalent in our country and a great source of morbidity. This study was done with an objective to determine relative frequency of different valvular lesions of RHD presenting in a tertiary care hospital. Methods: This cross sectional study was conducted at the Cardiology Department of Hayatabad Medical Complex, Peshawar. A total of 171 cases of RHD were included through consecutive sampling technique. Results: There were 64.33% females. Mean age was 25.6 ± 6.95 years ranging from 15 to 40 years. The different percentage of valvular lesions in RHD were MR (59.06%), MS (46.78%), AR (43.85%) and mixed lesions (38.59%). Conclusion: Rheumatic heart disease is a very common disease in our community and mitral regurgitation is a predominant lesion at presentation. Females are usually affected more than males. (author)

  19. Comparison of fatty acid composition of subcutaneous, pericardial and epicardial adipose tissue and atrial tissue in patients with heart disease

    DEFF Research Database (Denmark)

    Eschen, Rikke Bülow; Gu, Jiwei; Andreasen, Jan Jesper

    OBJECTIVES The content in adipose tissue of marine n-3 polyunsaturated fatty acids (PUFAs) is a marker of long-term fish consumption and data suggest an antiarrhythmic effect of n-3 PUFAs. We investigated the correlation between adipose tissue content of the major n-3 PUFAs, eicosapentaenoic acid...... (EPA) and docosahexaenoic acid (DHA), from three different adipose tissue compartments [epicardial (EAT), pericardial (PAT) and subcutaneous (SAT)]. Furthermore, we studied the correlation between the content of EPA and DHA in these compartments and in atrial tissue (AT). METHODS We obtained AT from...

  20. Comparison of fatty acid composition of subcutaneous, pericardial and epicardial adipose tissue and atrial tissue in patients with heart disease

    DEFF Research Database (Denmark)

    Eschen, Rikke Bülow; Gu, Jiwei; Andreasen, Jan Jesper

    2016-01-01

    OBJECTIVES The content in adipose tissue of marine n-3 polyunsaturated fatty acids (PUFAs) is a marker of long-term fish consumption and data suggest an antiarrhythmic effect of n-3 PUFAs. We investigated the correlation between adipose tissue content of the major n-3 PUFAs, eicosapentaenoic acid...... (EPA) and docosahexaenoic acid (DHA), from three different adipose tissue compartments [epicardial (EAT), pericardial (PAT) and subcutaneous (SAT)]. Furthermore, we studied the correlation between the content of EPA and DHA in these compartments and in atrial tissue (AT). METHODS We obtained AT from...

  1. Overexpression of leptin mRNA in mesenteric adipose tissue in inflammatory bowel diseases.

    Science.gov (United States)

    Barbier, Maryse; Vidal, Hubert; Desreumaux, Pierre; Dubuquoy, Laurent; Bourreille, Arnaud; Colombel, Jean-François; Cherbut, Christine; Galmiche, Jean-Paul

    2003-11-01

    Leptin, a protein with a cytokine-like structure, is produced predominantly by adipocytes. It appears to play a key role in immune responses by increasing the secretion of Th1 and pro-inflammatory cytokines. As fat-wrapping is a characteristic feature of Crohn's disease (CD), and as increased leptin levels have been reported in animal models of intestinal inflammation, this study investigated whether mesenteric adipose tissue could be a source of leptin in human inflammatory bowel disease (IBD). To quantify the expression of leptin mRNA in mesenteric adipose tissue of patients with CD or ulcerative colitis (UC). Specimens were obtained from mesenteric white adipose tissue close to healthy and inflammatory small intestine and/or colon in patients with CD or UC and, for controls, from apparently healthy mesentery of patients operated for carcinoma of the right colon. The expression of leptin mRNA was assessed by reverse transcription-competitive polymerase chain reaction. Leptin mRNA levels were significantly higher in mesenteric adipose tissue of CD and UC patients than in controls (P<0.05). In CD and UC, concentrations were not significantly different in mesenteric fat specimens, whether contiguous to macroscopically normal or grossly abnormal intestine. This study provides the first evidence of a novel abnormality of the mesentery of patients with IBD. Overexpression of leptin mRNA in mesenteric adipose tissue may contribute to (a) the inflammatory process, (b) enhancement of mesenteric TNF alpha expression in CD (as recently reported), and/or (c) the anorexia frequently reported during flares of IBD.

  2. Plasma Tissue Factor Pathway Inhibitor Levels in Angiographically Defined Coronary Artery Disease Among Saudis

    Directory of Open Access Journals (Sweden)

    Syed Shahid Habib

    2013-05-01

    Full Text Available Objectives: This study was aimed to determine plasma levels of total (TFPI-T and free (TFPI-F tissue factor pathway inhibitor, plasminogen activator inhibitor-1 (PAI-1, and tissue plasminogen activator (t-PA in a cohort of Saudi patients with chronic stable angiographically defined coronary artery disease (CAD and to determine its correlation with its severity.Methods: This cross sectional study was conducted in the department of physiology and department of cardiology, College of Medicine, and King Khalid University Hospital and King Saud University, Riyadh. Sixty known cases of CAD who had undergone angiography (35 males and 25 females were selected. A control group included 39 (20 males and 19 females healthy subjects. Fasting venous blood samples were analyzed for total (TFPI-T and free (TFPI-F tissue factor pathway inhibitor, plasminogen activator inhibitor-1 (PAI-1, and tissue plasminogen activator (t-PA. Gensini scores and vessel scores were determined for assessing CAD severity.Results: There were non-significant differences between age, body mass index (BMI and Blood pressure between the controls and CAD subjects. A comparison of hemostatic markers between control and CAD patients showed significantly higher levels of Fibrinogen, PAI-1, TFPI-T and TFPI-F in CAD patients compared to control subjects. But there was no difference in plasma t-PA levels. TFPI-T had a significant positive correlation with severity of disease determined by Gensini Scores (r=0.344; p=0.006 and vessel scores (r=0.338; p=0.015.Conclusion: Plasma levels of total tissue factor pathway inhibitor are significantly related with the presence and severity of CAD. Elevated levels of TFPI-T may be considered as useful diagnostic and prognostic markers in patients with CAD.

  3. Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Cohen, O S; Kimiagar, I; Korczyn, A D; Nitsan, Z; Appel, S; Hoffmann, C; Rosenmann, H; Kahana, E; Chapman, J

    2016-05-01

    Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD. The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files. The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome. Our case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies. © 2016 EAN.

  4. Adventitial cystic disease of the common femoral vein presenting as deep vein thrombosis

    Directory of Open Access Journals (Sweden)

    Young-Kyun Kim

    2016-07-01

    Full Text Available Adventitial cystic disease of the common femoral vein is a rare condition. We herein report the case of a 50-year-old woman who presented with painless swelling in her left lower leg that resembled deep vein thrombosis. She underwent femoral exploration and excision of the cystic wall. The presentation, investigation, treatment, and pathology of this condition are discussed with a literature review.

  5. A Rare Clinical Presentation of Giant Bilateral Labial Fibroepithelial Stromal Polyps in Patient with Psoriasis Disease

    Directory of Open Access Journals (Sweden)

    Ayse Filiz Avsar

    2016-01-01

    Full Text Available Fibroepithelial polyps (FEPs are rarely seen lesions of the lower female genital tract with polypoid proliferations of stroma. These tumors usually present in the vulvovaginal region of the reproductive aged women. In this presentation, we report a case of a psoriatic woman who developed unusual multiple polypoid lesions approximately 15 cm in size arising from both left and right labia minora and unique connection of FEPs with psoriasis disease.

  6. Celiac disease or positive tissue transglutaminase antibodies in patients undergoing renal biopsies.

    Science.gov (United States)

    Nurmi, Rakel; Metso, Martti; Pörsti, Ilkka; Niemelä, Onni; Huhtala, Heini; Mustonen, Jukka; Kaukinen, Katri; Mäkelä, Satu

    2018-01-01

    An association between celiac disease and renal diseases has been suggested, but the results are controversial. To investigate the prevalence of celiac disease autoimmunity among individuals undergoing renal biopsies and to evaluate whether co-existent celiac autoimmunity influences the clinical outcome of the renal disease. The prevalence of celiac autoimmunity (previous diagnosis of celiac disease or positive tissue transglutaminase antibodies) was determined in 827 consecutive patients undergoing kidney biopsies due to clinical indications. Up to 15 years' follow-up data on kidney function and co-morbidities were obtained. Celiac autoimmunity was found in 45 (5.4%) patients. Among the IgA nephropathy patients, 8.2% of had celiac autoimmunity. At the time of kidney biopsy and after a median follow-up of 5 to 6 years, renal function measured by estimated glomerular filtration rate (eGFR) was inferior in IgA nephropathy patients with celiac autoimmunity compared to those without it (P=0.048 and P=0.022, respectively). The prevalence of celiac autoimmunity seems to be high in patients undergoing renal biopsies, especially in patients with IgA nephropathy. Such autoimmunity may be associated with worse renal function in IgA nephropathy. Hence the co-existence of celiac disease should be taken into consideration when treating patients with renal diseases. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  7. X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy

    Directory of Open Access Journals (Sweden)

    S. Nicole Chadha

    2010-01-01

    Full Text Available X-linked lymphoproliferative disease, also known as Duncan's syndrome, is a rare genetic disorder that causes exaggerated immune responses to Epstein-Barr virus (EBV infection and often leads to death. Patient presentation varies but can include signs and symptoms typical of EBV, pancytopenia, and fulminant hepatitis.

  8. Late-stage disease at presentation to an HIV clinic in eastern Tanzania

    African Journals Online (AJOL)

    African patients. Little is known about the proportion and characteristics of patients presenting to HIV care and treatment clinics in the later stages of the disease. Most reports in sub-Saharan Africa focus on the CD4 count at. ART initiation and reveal that a majority of patients initiate. ART at low CD4 levels6. This study aimed ...

  9. Early Motor Unit Disease Masquerading as Psychogenic Breathy Dysphonia: A Clinical Case Presentation

    Science.gov (United States)

    Aronson, Arnold E.

    1971-01-01

    Presented is a study of a 20-year-old girl with mild, breathy dysphonia, previously diagnosed as psychogenic. In actuality, her voice change was a sign of early myasthenia gravis. It is pointed out that voice changes can be a first and only sign of early neurologic disease. (Author/KW)

  10. Mechanisms of foot-and-mouth disease virus tropism inferred from differential tissue gene expression.

    Directory of Open Access Journals (Sweden)

    James J Zhu

    Full Text Available Foot-and-mouth disease virus (FMDV targets specific tissues for primary infection, secondary high-titer replication (e.g. foot and mouth where it causes typical vesicular lesions and long-term persistence at some primary replication sites. Although integrin αVβ6 receptor has been identified as primary FMDV receptors in animals, their tissue distribution alone fails to explain these highly selective tropism-driven events. Thus, other molecular mechanisms must play roles in determining this tissue specificity. We hypothesized that differences in certain biological activities due to differential gene expression determine FMDV tropism and applied whole genome gene expression profiling to identify genes differentially expressed between FMDV-targeted and non-targeted tissues in terms of supporting primary infection, secondary replication including vesicular lesions, and persistence. Using statistical and bioinformatic tools to analyze the differential gene expression, we identified mechanisms that could explain FMDV tissue tropism based on its association with differential expression of integrin αVβ6 heterodimeric receptor (FMDV receptor, fibronectin (ligand of the receptor, IL-1 cytokines, death receptors and the ligands, and multiple genes in the biological pathways involved in extracellular matrix turnover and interferon signaling found in this study. Our results together with reported findings indicate that differences in (1 FMDV receptor availability and accessibility, (2 type I interferon-inducible immune response, and (3 ability to clear virus infected cells via death receptor signaling play roles in determining FMDV tissue tropism and the additional increase of high extracellular matrix turnover induced by FMDV infection, likely via triggering the signaling of highly expressed IL-1 cytokines, play a key role in the pathogenesis of vesicular lesions.

  11. In-silico study of toxicokinetics and disease association of chemicals present in smokeless tobacco products.

    Science.gov (United States)

    Bhartiya, Deeksha; Kumar, Amit; Kaur, Jasmine; Kumari, Suchitra; Sharma, Amitesh Kumar; Sinha, Dhirendra N; Singh, Harpreet; Mehrotra, Ravi

    2018-03-02

    Smokeless tobacco (SLT) products are consumed by millions of people in over 130 countries around the world. Consumption of SLT has been estimated to cause a number of diseases accounting to more than 0.65 million deaths per year. There is sufficient epidemiological evidence on the association of SLT products with nicotine addiction, cancers of oral cavity and digestive systems but there is a lack of understanding of the role of toxic chemicals in these diseases. We provide the first comprehensive in-silico analysis of chemical compounds present in different SLT products used worldwide. Many of these compounds are found to have good absorption, solubility and permeability along with mutagenic and toxic properties. They are also found to target more than 350 human proteins involved in a plethora of human biological processes and pathways. Along with all the previously known diseases, the present study has identified the association of compounds of SLT products with a number of unknown diseases like neurodegenerative, immune and cardiac diseases (Left ventricular non compaction, dilated cardiomyopathy etc). These findings indicate far-reaching impact of SLT products on human health than already known which needs further validations using epidemiological, in-vitro and in-vivo methodologies. Thus, this study will provide one stop information for the policy makers in development of regulatory policies on toxic contents of SLT products. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Factors Associated with Decreased Lean Tissue Index in Patients with Chronic Kidney Disease

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    Yi-Wen Wang

    2017-04-01

    Full Text Available Muscle wasting is common and is associated with increased morbidity and mortality in patients with chronic kidney disease (CKD. However, factors associated with decreased muscle mass in CKD patients are seldom reported. We performed a cross-sectional study of 326 patients (age 65.8 ± 13.3 years with stage 3–5 CKD who were not yet on dialysis. Muscle mass was determined using the Body Composition Monitor (BCM, a multifrequency bioimpedance spectroscopy device, and was expressed as the lean tissue index (LTI, lean tissue mass/height2. An LTI of less than 10% of the normal value (low LTI indicates muscle wasting. Patients with low LTI (n = 40 tended to be diabetic, had significantly higher fat tissue index, urine protein creatinine ratio, and interleukin-6 and tumor necrosis factor-α levels, but had significantly lower serum albumin and hemoglobin levels compared with those with normal LTI. In multivariate linear regression analysis, age, sex, cardiovascular disease, and interleukin-6 were independently associated with LTI. Additionally, diabetes mellitus remained an independent predictor of muscle wasting according to low LTI by multivariate logistic regression analysis. We conclude that LTI has important clinical correlations. Determination of LTI may aid in clinical assessment by helping to identify muscle wasting among patients with stage 3–5 CKD.

  13. Evaluation of magnetization transfer ratios for breast tissues and breast diseases

    Energy Technology Data Exchange (ETDEWEB)

    Sasaki, Fumio; Murai, Hiroshi; Takeuchi, Thouru; Iwase, Takuji; Miura, Shigeto; Mastushima, Shigeru; Oosaki, Hikaru [Aichi Cancer Center, Nagoya (Japan). Hospital; Kinosada, Yasuomi

    1997-03-01

    To determine MTRs for normal structures and benign diseases in the breast two-dimensional magnetization transfer imaging was performed in 62 patients and in 3 young female volunteers. With regard to the MTRs of measurements in the normal breast tissues, fat tissues which is close to simple cysts in MTRs show little transfer of longitudinal magnetization. MTRs of the muscles was 15.15{+-}6.22%, which exceeded those of breast parenchyma. The breast parenchyma didn`t show the change of MTR value due to the difference of patient age and due to variable amount of fat and fibrous tissues. Breast parenchyma in the two young volunteers clearly showed biphasic change of MTR values in accordance with the menstrual cycle; little transfer value was due to hydration in the postovulatory period and high transfer value was due to dehydration in the preovulatory period. In the remaining one volunteer during lactation period, mammary parenchyma shows sever decrease in MTR, because mammary gland is loaded with massive fluid, showing a very high signal intensity on First IR and T2-weighted images. MTR values of benign breast diseases including mastopathy, fibroadenoma and phyllodes tumor had no significant difference from those of the breast parenchyma and muscle. Non-invasive ductal carcinoma was equivalent to breast parenchyma in MTR. (K.H.)

  14. Clinical implications of oral candidiasis: host tissue damage and disseminated bacterial disease.

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    Kong, Eric F; Kucharíková, Sona; Van Dijck, Patrick; Peters, Brian M; Shirtliff, Mark E; Jabra-Rizk, Mary Ann

    2015-02-01

    The clinical significance of polymicrobial interactions, particularly those between commensal species with high pathogenic potential, remains largely understudied. Although the dimorphic fungal species Candida albicans and the bacterium Staphylococcus aureus are common cocolonizers of humans, they are considered leading opportunistic pathogens. Oral candidiasis specifically, characterized by hyphal invasion of oral mucosal tissue, is the most common opportunistic infection in HIV(+) and immunocompromised individuals. In this study, building on our previous findings, a mouse model was developed to investigate whether the onset of oral candidiasis predisposes the host to secondary staphylococcal infection. The findings demonstrated that in mice with oral candidiasis, subsequent exposure to S. aureus resulted in systemic bacterial infection with high morbidity and mortality. Histopathology and scanning electron microscopy of tongue tissue from moribund animals revealed massive C. albicans hyphal invasion coupled with S. aureus deep tissue infiltration. The crucial role of hyphae in the process was demonstrated using a non-hypha-producing and a noninvasive hypha-producing mutant strains of C. albicans. Further, in contrast to previous findings, S. aureus dissemination was aided but not contingent upon the presence of the Als3p hypha-specific adhesion. Importantly, impeding development of mucosal C. albicans infection by administering antifungal fluconazole therapy protected the animals from systemic bacterial disease. The combined findings from this study demonstrate that oral candidiasis may constitute a risk factor for disseminated bacterial disease warranting awareness in terms of therapeutic management of immunocompromised individuals. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  15. The Conjunctiva-Associated Lymphoid Tissue in Chronic Ocular Surface Diseases.

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    Mastropasqua, Rodolfo; Agnifili, Luca; Fasanella, Vincenzo; Nubile, Mario; Gnama, Agbeanda A; Falconio, Gennaro; Perri, Paolo; Di Staso, Silvio; Mariotti, Cesare

    2017-08-01

    Ocular surface diseases (OSDs) represent a widely investigated field of research given their growing incidence and the negative impact on quality of life. During OSDs, cytokines generated by damaged epithelia trigger and deregulate the lymphoid cells composing the eye-associated lymphoid tissues, inducing an immune-mediated chronic inflammation that amplifies and propagates the disease during time. The conjunctiva-associated lymphoid tissue (CALT), given its particular position that permits immune cells covering the cornea, might play a crucial role in the development of OSDs. Despite the recognized inflammatory role of mucosa-associated lymphoid tissues in other stations taking contact with the external environment (gut or bronchus), CALT did not gain the deserved consideration. In the last years, the diffusion of the in vivo confocal microscopy (IVCM) stimulated the interest to CALT, especially in dry eye, ocular allergy, and glaucoma. Though the initial stimuli were different, IVCM documented similar changes, represented by increased lymphoid cells within the diffuse layer, follicles and interfollicular spaces. These findings, which need to be validated by immunohistology, support the CALT stimulation during OSDs. However, while an involvement of the CALT in OSDs is hypothesizable, the exact role of this structure in their pathogenesis remains unclear and warrants further investigations.

  16. Pericarditis as the Presenting Feature of Graves Disease in a Pediatric Patient.

    Science.gov (United States)

    Cullen, Danielle; Munjal, Neil; Chalal, Hannah; Ramgopal, Sriram; Tas, Emir; Witchel, Selma

    2017-04-01

    Pericarditis is a rare presentation of thyrotoxicosis associated with Graves disease. This association has not been previously described in the pediatric literature. We report a 17-year-old male patient who presented with chest pain, dyspnea, and tachycardia. He was found to have diffuse ST-segment elevation consistent with pericarditis. At presentation, he was noted to have bilateral proptosis. Abnormal thyroid function studies and an elevated thyroid-stimulating hormone receptor antibody level confirmed the diagnosis of Graves thyrotoxicosis. The patient was treated with anti-inflammatory and antithyroid agents and improved in time. We discuss previously reported cases of Graves disease-associated pericarditis in adults, potential etiologies, and management strategies.

  17. Increased frequency of delayed type hypersensitivity to metals in patients with connective tissue disease.

    Science.gov (United States)

    Stejskal, Vera; Reynolds, Tim; Bjørklund, Geir

    2015-01-01

    Connective tissue disease (CTD) is a group of inflammatory disorders of unknown aetiology. Patients with CTD often report hypersensitivity to nickel. We examined the frequency of delayed type hypersensitivity (DTH) (Type IV allergy) to metals in patients with CTD. Thirty-eight patients; 9 with systemic lupus erythematosus (SLE), 16 with rheumatoid arthritis (RA), and 13 with Sjögren's syndrome (SS) and a control group of 43 healthy age- and sex-matched subjects were included in the study. A detailed metal exposure history was collected by questionnaire. Metal hypersensitivity was evaluated using the optimised lymphocyte transformation test LTT-MELISA(®) (Memory Lymphocyte Immuno Stimulation Assay). In all subjects, the main source of metal exposure was dental metal restorations. The majority of patients (87%) had a positive lymphocyte reaction to at least one metal and 63% reacted to two or more metals tested. Within the control group, 43% of healthy subjects reacted to one metal and only 18% reacted to two or more metals. The increased metal reactivity in the patient group compared with the control group was statistically significant (Pnickel, mercury, gold and palladium. Patients with SLE, RA and SS have an increased frequency of metal DTH. Metals such as nickel, mercury and gold are present in dental restorative materials, and many adults are therefore continually exposed to metal ions through corrosion of dental alloys. Metal-related DTH will cause inflammation. Since inflammation is a key process in CTDs, it is possible that metal-specific T cell reactivity is an etiological factor in their development. The role of metal-specific lymphocytes in autoimmunity remains an exciting challenge for future studies. Copyright © 2015 Elsevier GmbH. All rights reserved.

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

    OpenAIRE

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

    2014-01-01

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

  19. Dysregulation of chemokine/chemokine receptor axes and NK cell tissue localization during diseases

    Directory of Open Access Journals (Sweden)

    Giovanni Bernardini

    2016-10-01

    Full Text Available ABSTRACTChemokines are small chemotactic molecules that play key roles in physiological and pathological conditions. Upon signaling via their specific receptors, chemokines regulate tissue mobilization and trafficking of a wide array of immune cells, including NK cells. Current research is focused in analyzing changes of chemokine/chemokine receptor expression during various diseases to interfere with pathological trafficking of cells, or to recruit selected cell types to specific tissues. NK cells are a heterogeneous lymphocyte population comprising several subsets endowed with distinct functional properties and mainly representing distinct stages of a linear development process. Because of their different functional potential, the type of subset that accumulates in a tissue drives the final outcome of NK cell-regulated immune response, leading to either protection or pathology. Correspondingly, chemokine receptors including CXCR4, CXCR3 and CX3CR1 are differentially expressed by NK cell subsets and their expression levels can be modulated during NK cell activation. This review will at first summarize the current knowledge on the contribution of chemokines to the localization and generation of NK cell subsets in homeostasis. How an inappropriate chemotactic response can lead to pathology and how chemokine targeting can therapeutically affect tissue recruitment/localization of distinct NK cell subsets will also be discussed.

  20. Early surgical intervention and its impact on patients presenting with necrotizing soft tissue infections: A single academic center experience

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    George J Hadeed

    2016-01-01

    Full Text Available Objectives: Early diagnosis and emergent surgical debridement of necrotizing soft tissue infections (NSTIs remains the cornerstone of care. We aimed to study the effect of early surgery on patients' outcomes and, in particular, on hospital length of stay (LOS and Intensive Care Unit (ICU LOS. Materials and Methods: Over a 6-year period (January 2003 through December 2008, we analyzed the records of patients with NSTIs. We divided patients into two groups based on the time of surgery (i.e., the interval from being diagnosed and surgical intervention: Early (<6 h and late (≥6 h intervention groups. For these two groups, we compared baseline demographic characteristics, symptoms, and outcomes. For our statistical analysis, we used the Student's t-test and Pearson Chi-square (χ2 test. To evaluate the clinical predictors of early diagnosis of NSTIs, we performed multivariate logistic regression analysis. Results: In the study population (n = 87; 62% males and 38% females, age, gender, wound locations, and comorbidities were comparable in the two groups. Except for higher proportion of crepitus, the clinical presentations showed no significant differences between the two groups. There were significantly shorter hospital LOS and ICU LOS in the early than late intervention group. The overall mortality rate in our study patients with NSTIs was 12.5%, but early intervention group had a mortality of 7.5%, but this did not reach statistical significance. Conclusions: Our findings show that early surgery, within the first 6 h after being diagnosed, improves in-hospital outcomes in patients with NSTIs.

  1. Presentation of life-threatening invasive nontyphoidal Salmonella disease in Malawian children: A prospective observational study

    Science.gov (United States)

    Msefula, Chisomo L.; Gondwe, Esther N.; Gilchrist, James J.; Pensulo, Paul; Mandala, Wilson L.; Mwimaniwa, Grace; Banda, Meraby; Kenny, Julia; Wilson, Lorna K.; Phiri, Amos; MacLennan, Jenny M.; Molyneux, Elizabeth M.; Molyneux, Malcolm E.; Graham, Stephen M.

    2017-01-01

    Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006. Data on clinical presentation, co-morbidities and outcome were used to identify children at risk of inpatient mortality through logistic-regression modeling. Over one calendar year, 263 consecutive children presented with invasive Salmonella disease. Median age was 16 months (range 0–15 years) and 52/256 children (20%; 95%CI 15–25%) died. Nontyphoidal serovars caused 248/263 (94%) of cases. 211/259 (81%) of isolates were multi-drug resistant. 251/263 children presented with bacteremia, 6 with meningitis and 6 with both. Respiratory symptoms were present in 184/240 (77%; 95%CI 71–82%), 123/240 (51%; 95%CI 45–58%) had gastrointestinal symptoms and 101/240 (42%; 95%CI 36–49%) had an overlapping clinical syndrome. Presentation at <7 months (OR 10.0; 95%CI 2.8–35.1), dyspnea (OR 4.2; 95%CI 1.5–12.0) and HIV infection (OR 3.3; 95%CI 1.1–10.2) were independent risk factors for inpatient mortality. Invasive Salmonella disease in Malawi is characterized by high mortality and prevalence of multi-drug resistant isolates, along with non-specific presentation. Young infants, children with dyspnea and HIV-infected children bear a disproportionate burden of the Salmonella-associated mortality in Malawi. Strategies to improve prevention, diagnosis and management of invasive Salmonella disease should be targeted at these children

  2. Presentation of life-threatening invasive nontyphoidal Salmonella disease in Malawian children: A prospective observational study.

    Directory of Open Access Journals (Sweden)

    Calman A MacLennan

    2017-12-01

    Full Text Available Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006. Data on clinical presentation, co-morbidities and outcome were used to identify children at risk of inpatient mortality through logistic-regression modeling. Over one calendar year, 263 consecutive children presented with invasive Salmonella disease. Median age was 16 months (range 0-15 years and 52/256 children (20%; 95%CI 15-25% died. Nontyphoidal serovars caused 248/263 (94% of cases. 211/259 (81% of isolates were multi-drug resistant. 251/263 children presented with bacteremia, 6 with meningitis and 6 with both. Respiratory symptoms were present in 184/240 (77%; 95%CI 71-82%, 123/240 (51%; 95%CI 45-58% had gastrointestinal symptoms and 101/240 (42%; 95%CI 36-49% had an overlapping clinical syndrome. Presentation at <7 months (OR 10.0; 95%CI 2.8-35.1, dyspnea (OR 4.2; 95%CI 1.5-12.0 and HIV infection (OR 3.3; 95%CI 1.1-10.2 were independent risk factors for inpatient mortality. Invasive Salmonella disease in Malawi is characterized by high mortality and prevalence of multi-drug resistant isolates, along with non-specific presentation. Young infants, children with dyspnea and HIV-infected children bear a disproportionate burden of the Salmonella-associated mortality in Malawi. Strategies to improve prevention, diagnosis and management of invasive Salmonella disease should be targeted at these children.

  3. The Morphological and Proliferative Aspect of Lymph Node of Hodgkin's disease Grown in Tissue Culture

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    Kamaleddin Armin

    1963-01-01

    Full Text Available The pre.sent rep.or,t describes the morphological and if nod H pron erative aspects of lymph es III odgkin s disease grown in tissue culture. The development of Hodgkin's lymph-nodes grown in vitro seems to depend upon the  a~e of t~e person and the stage of the Hodgkin'S disease at the time the I h IS obtained. ymp - The morphological and the proliferative aspects ('hELralcteriZI~d of Hodgkin's lymph-node is _. by four cytolOgically distinct phases:"nA- Simple emigrating phase."nB- Simple proliferative phase."nC- Complex proliferative phase."nD- Degenerative phase."nThe reticular cells, their evolution, and abnormalities St b . , ern erg cells and multinuclear giant cells have been sutdied and discussed. 14 K. ARMIN

  4. Lung-dominant connective tissue disease among patients with interstitial lung disease: prevalence, functional stability, and common extrathoracic features

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    Daniel Antunes Silva Pereira

    2015-04-01

    Full Text Available OBJECTIVE: To describe the characteristics of a cohort of patients with lung-dominant connective tissue disease (LD-CTD. METHODS: This was a retrospective study of patients with interstitial lung disease (ILD, positive antinuclear antibody (ANA results (≥ 1/320, with or without specific autoantibodies, and at least one clinical feature suggestive of connective tissue disease (CTD. RESULTS: Of the 1,998 patients screened, 52 initially met the criteria for a diagnosis of LD-CTD: 37% were male; the mean age at diagnosis was 56 years; and the median follow-up period was 48 months. During follow-up, 8 patients met the criteria for a definitive diagnosis of a CTD. The remaining 44 patients comprised the LD-CTD group, in which the most prevalent extrathoracic features were arthralgia, gastroesophageal reflux disease, and Raynaud's phenomenon. The most prevalent autoantibodies in this group were ANA (89% and anti-SSA (anti-Ro, 27%. The mean baseline and final FVC was 69.5% and 74.0% of the predicted values, respectively (p > 0.05. Nonspecific interstitial pneumonia and usual interstitial pneumonia patterns were found in 45% and 9% of HRCT scans, respectively; 36% of the scans were unclassifiable. A similar prevalence was noted in histological samples. Diffuse esophageal dilatation was identified in 52% of HRCT scans. Nailfold capillaroscopy was performed in 22 patients; 17 showed a scleroderma pattern. CONCLUSIONS: In our LD-CTD group, there was predominance of females and the patients showed mild spirometric abnormalities at diagnosis, with differing underlying ILD patterns that were mostly unclassifiable on HRCT and by histology. We found functional stability on follow-up. Esophageal dilatation on HRCT and scleroderma pattern on nailfold capillaroscopy were frequent findings and might come to serve as diagnostic criteria.

  5. Understanding the tissue interaction of new treatment modalities in laparoscopic surgery in view of safe and effective application (Conference Presentation)

    Science.gov (United States)

    Grimbergen, Matthijs C. M.; Klaessens, John H.; van der Veen, Albert J.; Verdaasdonk, Rudolf M.

    2016-03-01

    During laparoscopic surgery, devices are require to either cut, ablate or coagulate tissue and veins with high precision and controlled lateral damage preferably in an one-for-all modality. The tissue interactions of 3 new treatment modalities were studied using special imaging techniques to obtain a better understanding the working mechanism in view of effective and safe application. The Plasmajet produces a high temperature ionized gas 'flame' directed to the tissue surface at the tip of a 4 mm diameter rigid hand piece. The Lumenis DUO CO2 laser enables endoscopic laser energy delivery through a 1 mm outer diameter flexible hollow waveguide. The 2 µm 'Thulium' laser is delivered by (standard) 400 µm diameter optical fiber. Thermal imaging and Schlieren techniques were used to assess the superficial ablative and coagulation effects these surgical instruments scanning at preset velocities and distances from the surface of biological tissues and phantoms . The CO2 was very effective in tissue ablation even at a distance up to 10 mm due to a very small diverging beam from the hollow waveguide. In contrast, the Thulium laser showed less ablation and increasing coagulation at larger distance to the tissue. The gas 'flame' of the Plasmajet spread the thermal energy over the surface for effective superficial ablation and coagulation. However, the pressure of the gas flow is substantial on the tissue surface creating turbulence and even indirect cooling. The specific ablation and coagulation effects of the three treatment modalities have to be appreciate and the effective and safe application will depend on the preference and skills of the surgeon

  6. HENOCH-SCHÖNLEIN PURPURA WITH AN ATYPICAL PRESENTATION OF THE DISEASEpresentation of three case reports and review of the current literature

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    Daša Kumprej

    2016-04-01

    Full Text Available Background: Henoch-Schönlein purpura is the most common vasculitis of small blood vessels in children. The diagnosis of the disease is confirmed in a patient with a specific rash, joint inflamation, abdominal pain or renal disease. The specific rash is necesary for the confirmation of the diagnosis. Henoch-Schönlein purpura can rarely present with a complication withot a prior presentation of the rash. In these cases diagnosis is difficult until the presentation of the specific skin manifestation. In the majority of patients the disease course is not complicated and has a good prognosis.Conclusion: In this article we present three patients with an atypical presentation of the disease and a review of current literature on the topic.

  7. Keeping an Eye on Crohn’s Disease: Orbital Myositis as the Presenting Symptom

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    Carol A Durno

    1997-01-01

    Full Text Available Episodic periorbital swelling due to presumed orbital inflammation and myositis caused intermittent apparent proptosis and was the presenting symptom of ileocecal Crohn's disease (CD in a teenage female with a family history of autoimmune disorders and CD. Orbital myositis, a very rare extraintestinal manifestation of inflammatory bowel disease (IBD, likely represents a process of impaired immunoregulation related to the underlying intestinal inflammation. This rare manifestation of IBD simulates the more commonly encountered thyroid orbitopathy (ophthalmopathy, but IBD should be considered if all thyroid tests are negative. It is important to recognize that orbital myositis may be an extraintestinal manifestation of Crohn's disease so that the diagnosis can be made and appropriate therapy commenced.

  8. Oligometastatic Disease at Presentation or Recurrence for Nonsmall Cell Lung Cancer

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    Daniel R. Gomez

    2012-01-01

    Full Text Available Oligometastatic Non-Small Cell Lung Cancer (NSCLC presents a unique opportunity for potential curative therapy. Improved cancer staging using PET/CT, MRI, and future cellular and molecular staging with circulating tumor cells and/or molecular markers will identify more patients with truly oligometastasis disease that will benefit from definitive local treatment. Recent development of noninvasive local ablative therapy such as stereotactic radiotherapy makes it possible to eradicate multiple local diseases with minimal side effect. Novel systemic therapy may also control systemic spread and therefore make it possible to improve survival by eliminating local diseases. More research, particularly prospective studies, is ideally randomized studies are needed to validate the concept of oligometastasis.

  9. Oligometastatic disease at presentation or recurrence for nonsmall cell lung cancer.

    Science.gov (United States)

    Gomez, Daniel R; Niibe, Yuzuru; Chang, Joe Y

    2012-01-01

    Oligometastatic Non-Small Cell Lung Cancer (NSCLC) presents a unique opportunity for potential curative therapy. Improved cancer staging using PET/CT, MRI, and future cellular and molecular staging with circulating tumor cells and/or molecular markers will identify more patients with truly oligometastasis disease that will benefit from definitive local treatment. Recent development of noninvasive local ablative therapy such as stereotactic radiotherapy makes it possible to eradicate multiple local diseases with minimal side effect. Novel systemic therapy may also control systemic spread and therefore make it possible to improve survival by eliminating local diseases. More research, particularly prospective studies, is ideally randomized studies are needed to validate the concept of oligometastasis.

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2014-01-01

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

  13. Creutzfeldt-Jakob Disease Presenting as Expressive Aphasia and Nonconvulsive Status Epilepticus

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    Hafiz B. Mahboob

    2018-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD, the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG and magnetic resonance imaging (MRI findings and positive cerebrospinal spinal fluid (CSF analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging. We report a rare clinical presentation of sporadic CJD (sCJD with combination of both expressive aphasia and nonconvulsive status epilepticus. This patient presented with slurred speech, confusion, myoclonus, headaches, and vertigo and succumbed to his disease within ten weeks of initial onset of his symptoms. He had a normal initial diagnostic workup, but subsequent workup initiated due to persistent clinical deterioration revealed CJD with typical MRI, EEG, and CSF findings. Other causes of rapidly progressive dementia and encephalopathy were ruled out. Though a rare condition, we recommend consideration of CJD on patients with expressive aphasia, progressive unexplained neurocognitive decline, and refractory epileptiform activity seen on EEG. Frequent reimaging (MRI, video EEGs and CSF examination might help diagnose this fatal condition earlier.

  14. Sex-specific metabolic interactions between liver and adipose tissue in MCD diet-induced non-alcoholic fatty liver disease.

    Science.gov (United States)

    Lee, Yun-Hee; Kim, Sou Hyun; Kim, Sang-Nam; Kwon, Hyun-Jung; Kim, Jeong-Dong; Oh, Ji Youn; Jung, Young-Suk

    2016-07-26

    Higher susceptibility to metabolic disease in male exemplifies the importance of sexual dimorphism in pathogenesis. We hypothesized that the higher incidence of non-alcoholic fatty liver disease in males involves sex-specific metabolic interactions between liver and adipose tissue. In the present study, we used a methionine-choline deficient (MCD) diet-induced fatty liver mouse model to investigate sex differences in the metabolic response of the liver and adipose tissue. After 2 weeks on an MCD-diet, fatty liver was induced in a sex-specific manner, affecting male mice more severely than females. The MCD-diet increased lipolytic enzymes in the gonadal white adipose tissue (gWAT) of male mice, whereas it increased expression of uncoupling protein 1 and other brown adipocyte markers in the gWAT of female mice. Moreover, gWAT from female mice demonstrated higher levels of oxygen consumption and mitochondrial content compared to gWAT from male mice. FGF21 expression was increased in liver tissue by the MCD diet, and the degree of upregulation was significantly higher in the livers of female mice. The endocrine effect of FGF21 was responsible, in part, for the sex-specific browning of gonadal white adipose tissue. Collectively, these data demonstrated that distinctively female-specific browning of white adipose tissue aids in protecting female mice against MCD diet-induced fatty liver disease.

  15. Lung elastic tissue maturation and perturbations during the evolution of chronic lung disease.

    Science.gov (United States)

    Thibeault, D W; Mabry, S M; Ekekezie, I I; Truog, W E

    2000-12-01

    Infants elastic recoil. Our aims were to quantitate parenchymal elastic tissue during normal fetal development and in infants born at 23 to 30 weeks' gestation with prolonged survival at risk for chronic lung disease (CLD). The controls were 22 to 42 weeks' gestation (n = 71), received ventilator care, and died within 48 hours of birth, plus 7 term infants who died at 43 to 50 weeks' postconceptional age from nonpulmonary causes. Infants who were 23 to 30 weeks' gestation, at risk for CLD, and who lived 5 to 59 days (n = 44), were separated into groups based on respiratory score (SCORE; The integrated area under the curve of the average daily fraction of inspired oxygen x mean airway pressure (cm H(2)O) over the number of days lived). The SCORE groups, elastic stain. The parenchyma and parenchymal elastic tissue were point-counted. The absolute elastic tissue was calculated by multiplying TLV by the parenchymal and elastic fractions. Septal width, alveoli and alveolar duct diameters, and internal surface area (ISA) were also measured. In the controls, the volume density of parenchymal elastic tissue and absolute quantity of elastic tissue increased progressively from 22 to 50 weeks. In infants with CLD and SCORE >/=20, the volume density and absolute quantity of elastic tissue increased significantly. Mean absolute elastic tissue in the 20 to 69 group was 0.76 +/- 0.20 cm(3) greater than in the Elastic tissue for infants at risk for CLD, as a percent of predicted for same-age controls, rose linearly with increasing SCORE (r = 0.73; r(2) = 0.55). Control TLV and ISA were linearly related to age. Thirty-nine of the 44 CLD-risk infants had TLVs greater than controls. However, 77% with SCORE 20 to 200 had ISAs less than or equal to the control 95% confidence interval. Control septal width decreased sharply from 23 to 30 weeks, then gradually decreased to term. All infants with SCORE 70 to 200 and 80% of those with SCORE 20 to 69 had widths more than the control 95

  16. Targeting Adipose Tissue Lipid Metabolism to Improve Glucose Metabolism in Cardiometabolic Disease

    Directory of Open Access Journals (Sweden)

    Johan W.E. Jocken

    2014-10-01

    Full Text Available With Type 2 diabetes mellitus and cardiovascular disease prevalence on the rise, there is a growing need for improved strategies to prevent or treat obesity and insulin resistance, both of which are major risk factors for these chronic diseases. Impairments in adipose tissue lipid metabolism seem to play a critical role in these disorders. In the classical picture of intracellular lipid breakdown, cytosolic lipolysis was proposed as the sole mechanism for triacylglycerol hydrolysis in adipocytes. Recent evidence suggests involvement of several hormones, membrane receptors, and intracellular signalling cascades, which has added complexity to the regulation of cytosolic lipolysis. Interestingly, a specific form of autophagy, called lipophagy, has been implicated as alternative lipolytic pathway. Defective regulation of cytosolic lipolysis and lipophagy might have substantial effects on lipid metabolism, thereby contributing to adipose tissue dysfunction, insulin resistance, and related cardiometabolic (cMet diseases. This review will discuss recent advances in our understanding of classical lipolysis and lipophagy in adipocyte lipid metabolism under normal and pathological conditions. Furthermore, the question of whether modulation of adipocyte lipolysis and lipophagy might be a potential therapeutic target to combat cMet disorders will be addressed.

  17. Lesions by tissue specific imaging characterize multiple sclerosis patients with more advanced disease.

    Science.gov (United States)

    Bagnato, Francesca; Ikonomidou, Vasiliki N; van Gelderen, Peter; Auh, Sungyoung; Hanafy, Jailan; Cantor, Fredric K; Ohayon, Joan; Richert, Nancy; Duyn, Jeff

    2011-12-01

    Cerebrospinal fluid tissue specific imaging (CSF-TSI), a newly implemented magnetic resonance imaging (MRI) technique, allows visualization of a subset of chronic black holes (cBHs) with MRI characteristics suggestive of the presence of CSF-like fluid, and representing lesions with extensive tissue destruction. To investigate the relationship between lesions in CSF-TSI and disease measures in patients with multiple sclerosis (MS). Twenty-six patients with MS were imaged at 3.0 T, obtaining T(1)-weighted (T(1)-w) and T(2)-w spin echo (SE), T(1) volumetric images and CSF-TSI images. We measured: (i) lesion volume (LV) in T(1)-w (cBH-LV) and T(2)-w SE images, and in CSF-TSI; (ii) brain parenchyma fraction (BPF). Differences between patients with and without CSF-TSI lesions were analyzed and association between clinical and MRI metrics were investigated. cBHs were seen in 92% of the patients while lesions in CSF-TSI were seen in 40%. Patients with CSF-TSI lesions were older, with longer disease duration, higher disability scores, larger cBH-LV and T(2)-LV, and lower BPF than patients without CSF-TSI lesions (≤0.047). Partial correlation analysis correcting for T(2)-LV, cBH-LV and BPF showed an association (p TSI LV and disability score. CSF-TSI lesions characterize patients with more advanced disease and probably contribute to the progress of disability.

  18. Classification of coronary artery tissues using optical coherence tomography imaging in Kawasaki disease

    Science.gov (United States)

    Abdolmanafi, Atefeh; Prasad, Arpan Suravi; Duong, Luc; Dahdah, Nagib

    2016-03-01

    Intravascular imaging modalities, such as Optical Coherence Tomography (OCT) allow nowadays improving diagnosis, treatment, follow-up, and even prevention of coronary artery disease in the adult. OCT has been recently used in children following Kawasaki disease (KD), the most prevalent acquired coronary artery disease during childhood with devastating complications. The assessment of coronary artery layers with OCT and early detection of coronary sequelae secondary to KD is a promising tool for preventing myocardial infarction in this population. More importantly, OCT is promising for tissue quantification of the inner vessel wall, including neo intima luminal myofibroblast proliferation, calcification, and fibrous scar deposits. The goal of this study is to classify the coronary artery layers of OCT imaging obtained from a series of KD patients. Our approach is focused on developing a robust Random Forest classifier built on the idea of randomly selecting a subset of features at each node and based on second- and higher-order statistical texture analysis which estimates the gray-level spatial distribution of images by specifying the local features of each pixel and extracting the statistics from their distribution. The average classification accuracy for intima and media are 76.36% and 73.72% respectively. Random forest classifier with texture analysis promises for classification of coronary artery tissue.

  19. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    International Nuclear Information System (INIS)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-01-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results

  20. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-04-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

  1. Small bowel capsule endoscopy, a modern tool for celiac disease diagnosis - case presentation

    Directory of Open Access Journals (Sweden)

    Suceveanu Andra Iulia

    2014-05-01

    Full Text Available Celiac disease is a clinically heterogeneous disease characterized by an inadequate immunological response when patients with specific genetic phenotypes are exposed to gluten. This article presents a case of a young woman diagnosed in Gastroenterology Department of “ St. Andrew Apostle” Emergency Hospital of Constanta with celiac disease after multiple admissions into the hospital for unspecific symptoms such as pallor, fatigue, pirosis, weight loss and 1-2 soft stools/day. The history with period irregularities and infertility without a known cause, a recent unexplained bone fracture, the muscle weakness, neuropsychiatric symptoms characterized by sleep disturbances and irritability correlated with the biological features characterized by moderate feriprive anemia, Ca and Mg decreased level, thyroid autoimmune impairment and gastrointestinal symptoms raised the suspicion of an autoimmune disorder with multiple targets. The videcapsule endoscopy (VCE revealed the specific pattern of the celiac disease: villous atrophy of jejunum, scalloping, absent folds and cobblestone mucosal pattern. Results were correlated with immunology tests results. The patient was transferred on a gluten free diet and the clinical and VCE controlsrevealed the healing of the jejunum mucosa. The VCE can be the tool for positive diagnosis of an unusual and heterogeneous celiac disease in patients with various symptoms without an apparent cause.

  2. A Case Report: Cushing’s Disease Presenting with Polycythemia and Venous Thromboembolism

    Directory of Open Access Journals (Sweden)

    İnan Anaforoğlu

    2012-06-01

    Full Text Available We present the case of a woman with Cushing’s disease who had originally received a diagnosis of primary polycythemia. Her major complaints were headache, weakness, and blushing of the face. She had been admitted to another hospital about 6 months previously for same symptoms, and she received a diagnosis of polycythemia vera. Before planned bone marrow aspiration and biopsy could be performed, the patient developed a popliteal vein thrombosis; heterozygotic mutation of factor V Leiden (1691 GA had been identified. She was admitted to our hospital for bone marrow biopsy. Considering her physical examination and medical history which revealed facial plethora, moon-face, supraclavicular fullness, central obesity, purple striae at her abdomen, shoulder, and thighs, in addition to frontal balding, acne, hirsutism and infertility, she was evaluated for possible Cushing’s disease. A diagnosis of Cushing’s disease was made. Her haematological situation and clinical symptoms resolved after she underwent hypophysectomy for Cushing’s disease. Cushing’s disease is a possible cause of secondary erythrocytosis. Venous thrombosis can occur during the course of both Cushing’s syndrome and primary polycythemias. It is important to exclude such secondary causes of polycythemia before making a final diagnosis. Turk Jem 2012; 16: 43-5

  3. Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.

    Science.gov (United States)

    Kang, Sa-Yoon; Song, Sook Keun; Lee, Jung Seok; Choi, Jay Chol; Kang, Ji-Hoon

    2013-12-01

    Sandhoff disease is a rare autosomal recessive metabolic disorder of GM2 gangliosides. It is caused by a lack of functional N-acetyl-β-D-glucosaminidase A and B because of mutations in the HEXB gene. We describe a 55-year-old woman with adult Sandhoff disease presenting as brachial amyotrophic diplegia. The assay of total hexosaminidase involving A and B showed decreased level of these activities. Hex-A was 4.6 nmol·min·mL (normal: 7.0-20.0 nmol·min·mL) and Hex-B was 0.1 nmol·min·mL (normal: 1.0-10.0 nmol·min·mL), respectively. Analysis of HEXB gene demonstrated 2 point mutations that were located at the exon 5 (c.619A>G) and exon 11 (c.1250C>T). Compound heterozygosity of these 2 mutations may trigger the development of distinct adult Sandhoff disease phenotype. Sandhoff disease should be considered in the differential diagnosis of lower motor neuron disease, such as brachial amyotrophic diplegia, even if the age at onset is more than 50 years.

  4. A case of familial Creutzfeldt-Jakob disease presenting with dry cough.

    Science.gov (United States)

    Larue, Sandrine; Verreault, Steve; Gould, Peter; Coulthart, Michael B; Bergeron, Catherine; Dupré, Nicolas

    2006-05-01

    Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide. Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough. The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

  5. Intravascular Large B-Cell Lymphoma Presenting as Interstitial Lung Disease

    Directory of Open Access Journals (Sweden)

    Elham Vali Khojeini

    2014-01-01

    Full Text Available Intravascular large B-cell lymphoma (IVLBL is a rare subtype of diffuse large B-cell lymphoma that resides in the lumen of blood vessels. Patients typically present with nonspecific findings, particularly bizarre neurologic symptoms, fever, and skin lesions. A woman presented with shortness of breath and a chest CT scan showed diffuse interstitial thickening and ground glass opacities suggestive of an interstitial lung disease. On physical exam she was noted to have splenomegaly. The patient died and at autopsy was found to have an IVLBL in her lungs as well as nearly all her organs that were sampled. Although rare, IVLBL should be included in the differential diagnosis of interstitial lung disease and this case underscores the importance of the continuation of autopsies.

  6. The susceptible HLA class II alleles and their presenting epitope(s) in Goodpasture's disease.

    Science.gov (United States)

    Xie, Li-Jun; Cui, Zhao; Chen, Fang-Jin; Pei, Zhi-Yong; Hu, Shui-Yi; Gu, Qiu-Hua; Jia, Xiao-Yu; Zhu, Li; Zhou, Xu-Jie; Zhang, Hong; Liao, Yun-Hua; Lai, Lu-Hua; Hudson, Billy G; Zhao, Ming-Hui

    2017-08-01

    Goodpasture's disease is closely associated with HLA, particularly DRB1*1501. Other susceptible or protective HLA alleles are not clearly elucidated. The presentation models of epitopes by susceptible HLA alleles are also unclear. We genotyped 140 Chinese patients and 599 controls for four-digit HLA II genes, and extracted the encoding sequences from the IMGT/HLA database. T-cell epitopes of α3(IV)NC1 were predicted and the structures of DR molecule-peptide-T-cell receptor were constructed. We confirmed DRB1*1501 (OR = 4·6, P = 5·7 × 10 -28 ) to be a risk allele for Goodpasture's disease. Arginine at position 13 (ARG13) (OR = 4·0, P = 1·0 × 10 -17 ) and proline at position 11 (PRO11) (OR = 4·0, P = 2·0 × 10 -17 ) on DRβ1, encoded by DRB1*1501, were associated with disease susceptibility. α 134-148 (HGWISLWKGFSFIMF) was predicted as a T-cell epitope presented by DRB1*1501. Isoleucine 137 , tryptophan 140 , glycine 142 , phenylalanine 143 and phenylalanine 145 , were presented in peptide-binding pockets 1, 4, 6, 7 and 9 of DR2b, respectively. ARG13 in pocket 4 interacts with tryptophan 140 and forms a hydrogen bond. In conclusion, we propose a mechanism for DRB1*1501 susceptibility for Goodpasture's disease through encoding ARG13 and PRO11 on MHC-DRβ1 chain and presenting T-cell epitope, α 134-148 , with five critical residues. © 2017 John Wiley & Sons Ltd.

  7. Lyme disease presenting with facial palsy and myocarditis mimicking myocardial infarction.

    Science.gov (United States)

    Gilson, Julieta; Khalighi, Koroush; Elmi, Farhad; Krishnamurthy, Mahesh; Talebian, Amirsina; Toor, Rubinder S

    2017-01-01

    A 45-year-old woman presented with a sudden episode of typical chest pain, radiating to her neck. The patient denied premature coronary artery disease in the family. Initial EKG showed normal sinus rhythm with a 1 mm ST-elevation involving lead II and lead aVF and a 1 mm ST-depression in lead V1 with associated T-wave inversion. Initial Troponin I (normal Lyme disease was confirmed by ELISA with positive IgM and IgG antibodies. Treatment with intravenous ceftriaxone and oral steroids was started. Eventually resolution of symptoms and, normalization of cardiac markers and EKG changes, were achieved. This is a rare case of Lyme myocarditis associated with markedly elevated Troponin I, normal left ventricle function, and an absence of conduction abnormalities. To the best of our knowledge, Lyme myocarditis mimicking acute coronary syndrome with such high levels of Troponin I and neurologic compromise has not been previously described. Lyme myocarditis may be a challenging diagnosis in endemic areas especially in patients with coronary artery disease risk factors, presenting with typical chest pain, EKG changes and positive cardiac biomarkers. Therefore, it should be considered a differential diagnosis in patients presenting with clinical symptoms suggestive of acute coronary syndrome. Abbreviations AV: Atrioventricular; CK-MB: Creatinine Kinase-MB; EKG: Electrocardiogram; ELISA: Enzyme-Linked Immunosorbent Assay; IgG: Immunoglobulin G; IgM: Immunoglobulin M.

  8. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Qiongshi Lu

    2017-07-01

    Full Text Available Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety of cell and tissue types. However, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. Here, we present GenoSkyline-Plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations. After validating our annotations with a catalog of tissue-specific non-coding elements previously identified in the literature, we apply our method using data from 127 different cell and tissue types to present an atlas of heritability enrichment across 45 different GWAS traits. We show that broader organ system categories (e.g. immune system increase statistical power in identifying biologically relevant tissue types for complex diseases while annotations of individual cell types (e.g. monocytes or B-cells provide deeper insights into disease etiology. Additionally, we use our GenoSkyline-Plus annotations in an in-depth case study of late-onset Alzheimer's disease (LOAD. Our analyses suggest a strong connection between LOAD heritability and genetic variants contained in regions of the genome functional in monocytes. Furthermore, we show that LOAD shares a similar localization of SNPs to monocyte-functional regions with Parkinson's disease. Overall, we demonstrate that integrated genome annotations at the single tissue level provide a valuable tool for understanding the etiology of complex human diseases. Our GenoSkyline-Plus annotations are freely available at http://genocanyon.med.yale.edu/GenoSkyline.

  9. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease.

    Science.gov (United States)

    Lu, Qiongshi; Powles, Ryan L; Abdallah, Sarah; Ou, Derek; Wang, Qian; Hu, Yiming; Lu, Yisi; Liu, Wei; Li, Boyang; Mukherjee, Shubhabrata; Crane, Paul K; Zhao, Hongyu

    2017-07-01

    Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety of cell and tissue types. However, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. Here, we present GenoSkyline-Plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations. After validating our annotations with a catalog of tissue-specific non-coding elements previously identified in the literature, we apply our method using data from 127 different cell and tissue types to present an atlas of heritability enrichment across 45 different GWAS traits. We show that broader organ system categories (e.g. immune system) increase statistical power in identifying biologically relevant tissue types for complex diseases while annotations of individual cell types (e.g. monocytes or B-cells) provide deeper insights into disease etiology. Additionally, we use our GenoSkyline-Plus annotations in an in-depth case study of late-onset Alzheimer's disease (LOAD). Our analyses suggest a strong connection between LOAD heritability and genetic variants contained in regions of the genome functional in monocytes. Furthermore, we show that LOAD shares a similar localization of SNPs to monocyte-functional regions with Parkinson's disease. Overall, we demonstrate that integrated genome annotations at the single tissue level provide a valuable tool for understanding the etiology of complex human diseases. Our GenoSkyline-Plus annotations are freely available at http://genocanyon.med.yale.edu/GenoSkyline.

  10. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease

    Science.gov (United States)

    Abdallah, Sarah; Ou, Derek; Wang, Qian; Hu, Yiming; Lu, Yisi; Liu, Wei; Li, Boyang; Mukherjee, Shubhabrata; Crane, Paul K.; Zhao, Hongyu

    2017-01-01

    Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety of cell and tissue types. However, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. Here, we present GenoSkyline-Plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations. After validating our annotations with a catalog of tissue-specific non-coding elements previously identified in the literature, we apply our method using data from 127 different cell and tissue types to present an atlas of heritability enrichment across 45 different GWAS traits. We show that broader organ system categories (e.g. immune system) increase statistical power in identifying biologically relevant tissue types for complex diseases while annotations of individual cell types (e.g. monocytes or B-cells) provide deeper insights into disease etiology. Additionally, we use our GenoSkyline-Plus annotations in an in-depth case study of late-onset Alzheimer’s disease (LOAD). Our analyses suggest a strong connection between LOAD heritability and genetic variants contained in regions of the genome functional in monocytes. Furthermore, we show that LOAD shares a similar localization of SNPs to monocyte-functional regions with Parkinson’s disease. Overall, we demonstrate that integrated genome annotations at the single tissue level provide a valuable tool for understanding the etiology of complex human diseases. Our GenoSkyline-Plus annotations are freely available at http://genocanyon.med.yale.edu/GenoSkyline. PMID:28742084

  11. Bovine natural killer cells are present in Escherichia coli infected mammary gland tissue and show antimicrobial activity in vitro

    NARCIS (Netherlands)

    Sipka, Anja; Pomeroy, Brianna; Klaessig, Suzanne; Schukken, Ynte

    2016-01-01

    Natural killer (NK) cells are early responders in bacterial infections but their role in bovine mastitis has not been characterized. For the first time, we show the presence of NK cells (NKp46+/CD3) in bovine mammary gland tissue after an intramammary challenge with

  12. Bovine natural killer cells are present in Escherichia coli infected mammary gland tissue and show antimicrobial activity in vitro

    NARCIS (Netherlands)

    Sipka, Anja; Pomeroy, Brianna; Klaessig, Suzanne; Schukken, Ynte|info:eu-repo/dai/nl/075051907

    2016-01-01

    Natural killer (NK) cells are early responders in bacterial infections but their role in bovine mastitis has not been characterized. For the first time, we show the presence of NK cells (NKp46+/CD3−) in bovine mammary gland tissue after an intramammary challenge with Escherichia (E.) coli. A small

  13. Atypical presentation of multicentric Castleman disease in a pediatric patient: pleural and pericardial effusion.

    Science.gov (United States)

    Akman, Alkim Oden; Basaran, Ozge; Ozyoruk, Derya; Han, Unsal; Sayli, Tulin; Cakar, Nilgun

    2016-06-01

    Castleman disease (CD) is a rare poorly understood lymphoproliferative disorder. Pediatric onset CD has been reported before. However, most of them have benign unicentric pattern. Multicentric CD (MCD) is quite rare in children. Herein, we report a 13-year-old adolescent boy with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. MCD should be considered in the differential diagnosis of pleural and/or pericardial effusion with unexplained lymph nodes in children. What is Known •Pediatric Castleman disease (CD) most commonly occurs in the unicentric form, which typically is asymptomatic and cured by lymph node excision. •The diagnosis of MCD can be difficult owing to the heterogeneity of presentation and potential for nonspecific multisystem involvement. What is New •A 13-year-old adolescent boy was diagnosed with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. •In a pediatric patient with fever, pleural-pericardial effusion and multiple lymph nodes, MCD should be considered in differantial diagnosis.

  14. The association of pathergy reaction and active clinical presentations of Behçet's disease.

    Science.gov (United States)

    Assar, Shirin; Sadeghi, Bahar; Davatchi, Fereydoun; Ghodsi, Seyyedeh Zahra; Nadji, Abdolhadi; Shahram, Farhad; Ashofte, Farimah; Larimi, Seyyedeh Roghieh; Sadeghi, Masoud

    2017-01-01

    The pathergy skin test is a hypersensitivity reaction to a prick skin trauma caused by a pin or a needle, which is considered as a specific presentation in Behçet's disease (BD) and the precise mechanism of this test is not well elucidated. This study was designed to evaluate the association of pathergy reaction (PR) with the active clinical manifestations of BD patients, to assess the clinical importance of PR. This was a cohort study on 1675 BD patients who fulfilled the entry criteria based on the International Criteria for Behçet's Disease (ICBD) from 1975 to 2011. The patients were divided into two groups; the pathergy positive group included 841 patients (50.2%) and the pathergy negative group 834 patients (49.8%). The active mucocutaneous and systemic disease manifestations were analyzed according to the presence of the PR. The odds ratio and 95% confidence interval (95% CI) were calculated for each item. In this study, 841 patients (50.2%) had a positive pathergy test. Patient's mean age and mean disease duration were similar in the two groups (pathergy positive and pathergy negative patients). There was no association between positive pathergy test and age of patients, or disease duration. The PR was associated with male gender ( p = 0.013), oral aphthosis ( p < 0.001), pseudofolliculitis ( p < 0.001), anterior uveitis ( p = 0.001) and posterior uveitis ( p = 0.028). The presence of PR was associated with male gender, as well as some of mucocutaneous manifestations and uveitis in adult patients. There was no association with retinitis and vascular involvements. PR isn't associated with the severity of the disease.

  15. The association of pathergy reaction and active clinical presentations of Behçet’s disease

    Directory of Open Access Journals (Sweden)

    Shirin Assar

    2017-04-01

    Full Text Available Objectives : The pathergy skin test is a hypersensitivity reaction to a prick skin trauma caused by a pin or a needle, which is considered as a specific presentation in Behçet’s disease (BD and the precise mechanism of this test is not well elucidated. This study was designed to evaluate the association of pathergy reaction (PR with the active clinical manifestations of BD patients, to assess the clinical importance of PR. Materials and methods : This was a cohort study on 1675 BD patients who fulfilled the entry criteria based on the International Criteria for Behçet’s Disease (ICBD from 1975 to 2011. The patients were divided into two groups; the pathergy positive group included 841 patients (50.2% and the pathergy negative group 834 patients (49.8%. The active mucocutaneous and systemic disease manifestations were analyzed according to the presence of the PR. The odds ratio and 95% confidence interval (95% CI were calculated for each item. Results : In this study, 841 patients (50.2% had a positive pathergy test. Patient’s mean age and mean disease duration were similar in the two groups (pathergy positive and pathergy negative patients. There was no association between positive pathergy test and age of patients, or disease duration. The PR was associated with male gender (p = 0.013, oral aphthosis (p < 0.001, pseudofolliculitis (p < 0.001, anterior uveitis (p = 0.001 and posterior uveitis (p = 0.028. Conclusions : The presence of PR was associated with male gender, as well as some of mucocutaneous manifestations and uveitis in adult patients. There was no association with retinitis and vascular involvements. PR isn’t associated with the severity of the disease.

  16. The role of gender in primary hyperparathyroidism: same disease, different presentation.

    Science.gov (United States)

    Mazeh, Haggi; Sippel, Rebecca S; Chen, Herbert

    2012-09-01

    Hyperparathyroidism is much more common in women and therefore may represent different diseases in men and women. In order to understand the role of gender in hyperparathyroidism, we reviewed our experience. We analyzed a prospective database of 1309 consecutive patients with primary hyperparathyroidism who underwent parathyroidectomy at our institution between March 2001 and August 2010. The female-to-male ratio was 3.3:1, and female patients were older at presentation (60 ± 0 vs. 57 ± 1 years, p Hyperparathyroidism appears to present differently depending on gender. Male patients more often present without symptoms, present with vitamin D deficiency, and have larger parathyroid glands. Importantly, surgical outcomes were equivalent between men and women.

  17. Non-marfan idiopathic medionecrosis (cystic medial necrosis) presenting with multiple visceral artery aneurysms and diffuse connective tissue fragility: Two brothers

    International Nuclear Information System (INIS)

    Kubota, Jun; Tsunemura, Mami; Amano, Shigeko; Tokizawa, Shigemi; Oowada, Susumu; Shinkai, Hiroko; Maehara, Yasunobu; Endo, Keigo

    1997-01-01

    Two brothers with multiple visceral artery aneurysms or dilatations and diffuse connective tissue fragility who did not have clinical features of Marfan syndrome are reported. One presented with retroperitoneal hemorrhage during angiography, and idiopathic medionecrosis was proved by resection of the aneurysms. These cases belong to the heterogeneous group of Marfan syndrome. The angiographical features (multiple dilation of visceral arteries) suggests fragility of connective tissue and is predictive of hazards during and after a catheterization and operation

  18. Mycobacterial disease in cats in Great Britain: I. Culture results, geographical distribution and clinical presentation of 339 cases.

    Science.gov (United States)

    Gunn-Moore, Danièlle A; McFarland, Sarah E; Brewer, Jacqueline I; Crawshaw, Timothy R; Clifton-Hadley, Richard S; Kovalik, Marcel; Shaw, Darren J

    2011-12-01

    This study investigated 339 cases of feline mycobacterial disease from cats with cutaneous lesions or masses found at exploratory laparotomy. Tissue samples were submitted to the Veterinary Laboratories Agency for mycobacterial culture over a 4-year period to December 2008. The study assessed which species of culturable mycobacteria were involved, where the cats lived, and their clinical presentation (physical findings, serum biochemistry, radiography, feline leukaemia virus and feline immunodeficiency virus status). Mycobacterium microti was cultured from 19%, Mycobacterium bovis 15%, Mycobacterium avium 7%, non-M avium non-tuberculous mycobacteria 6%, with no growth in 53% of samples. M microti, M bovis and M avium were found in almost mutually exclusive clusters within Great Britain (GB) (ie, M bovis in South-West England/Wales/Welsh Border, M avium in eastern England and M microti south of London and in South-West Scotland). While differences were seen in the clinical presentation and distribution of lesions caused by the different infections, these were not sufficiently different to be diagnostic. Cats commonly presented with single or multiple cutaneous lesions (74%), which were sometimes ulcerated or discharging, located most frequently on the head (54%). Lymph nodes were usually involved (47%); typically the submandibular nodes. Systemic or pulmonary signs were rarely seen (10-16%). When a cat is suspected of having mycobacteriosis, accurate identification of the species involved helps to determine appropriate action. Our findings show that knowing the cat's geographic location can be helpful, while the nature of the clinical presentation is less useful. Most cases of feline mycobacterial disease in GB are cutaneous. Copyright © 2011 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.

  19. Adipose Tissue, Metabolic Syndrome, and Non-Alcoholic Fatty Liver Disease – A Short Review

    Directory of Open Access Journals (Sweden)

    Panayiotis Kouis

    2014-05-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is the most common chronic liver disease globally, and it is expected to rise even further as a result of the increase in obesity and related risk factors. This short review summarises current evidence on the role of adipose tissue and insulin resistance in NAFLD and the interrelationship between NAFLD and the metabolic syndrome (MetS, considering central adiposity is a major feature of both the MetS and NAFLD, and that NAFLD has been previously described as the hepatic manifestation of the MetS. In addition, genetic studies of NAFLD with relation to adiposity and insulin resistance are reviewed, and up-to-date diagnostic and therapeutic tools are also discussed.

  20. [Interrelations of cancer of hormone dependent tissues and other non-infectious diseases: aging aspect].

    Science.gov (United States)

    Bershteĭn, L M

    2009-01-01

    The group of main noncommunicable diseases (NCDs) includes cardio- and cerebrovascular pathology, cancer, chronic nonspecific respiratory states, diabetes mellitus, osteoporosis, unipolar depression, obesity, etc. Tumors of hormone dependent tissues compose about 35-45% of the whole cancer morbidity. The attempts to understand place of these tumors among other NCDs and analyze their interrelationships with regard to age and aging represent a vital task of contemporary oncoendocrinology. On the ground of accumulated data one can conclude that although principal NCDs are diagnosed mainly in the course of second half of human life, the maturing of their hormonal and metabolic bases is extended in time, rather often starts several decades before clinical appearance and demonstrates diverse character of the associations with different constituents of this group of diseases. As a result it may give rise for the absence of parallelism in age-specific incidence of several main NCDs, especially at concluding stages of ontogenesis.

  1. Neurofibromatosis of atypical presentation.

    Science.gov (United States)

    Tato, B P; Sáez, A C; Recuero, J L D; Dorado, M M; Fernández, P R; de Paz, F S

    2005-09-01

    Neurofibromatosis (NF) is considered to be a heterogeneous neuroectodermal disease clinically defined by the presence of neurofibromas, multiple café-au-lait spots, intertriginous freckles and Lisch nodules. Mosaicism explains atypical presentations of the disease. Early mutations, before tissue differentiation, give rise to generalized disease. We report an atypical presentation of neurofibromatosis with an unusual distribution of neurofibromas, a peculiar, clinically and pathologically, neurofibroma on the trunk and the association with an ovarian serous cystoadenofibroma.

  2. Dermatologic Diseases Presenting with Pigmentation Disorders in Children: A Single Center Experience

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    Ayse Akbas

    2015-12-01

    Full Text Available Background: To determine the incidence and demographic characteristics of skin diseases presenting with hyperpigmentation in children applying to the dermatology department. Methods: A total of 2815 children between the ages of 0 to 16 who applied to the dermatology clinic with the complaints of hyperpigmentation disorders were evaluated. The age, gender, socioeconomic status, place of residence and demographic characteristics of children with abnormal pigmentation skin lesions were investigated. Results: A total of 2815 children applied to the dermatology clinic during the study period. Of these patients 1491 were female (53% and 1324 were male (47%. Of these 266 (9.4% were diagnosed with skin disorders presenting with hyperpigmention. The causes of hyperpigmentation in these patients were was follows; pityriasis alba (2.6%, melanocytic nevus (2.1%, vitiligo (1.8% postinflammatory hyperpigmentation (0.5%, and postinflammatory hypopigmentation (0.5%. According to the gender, p.alba, vitiligo, Becker nevus, acanthosis nigricans, tuberosclerosis and albinism were seen more in boys and nevus depigmentosus ephelis, postinflammatory hyperpigmentation/hypopigmentation and melanocytic nevus were seen more in the girls. Pitriyazis versicolor was seen equally in both genders. According to age groups, melanocytis nevus were found to be more frequent between the ages of 0-2 and 12-16, whereas pityrsasis versicolor was more frequent in ages 12-16 and P. alba in the 3-11 age group. Conclusions: There are quite a substantial number of pigmentation diseases occurring in children. Early diagnosis and treatment are important because although these diseases mainly cause cosmetic problems, they can decrease the quality of life. Here, we attempted to define the demographic characteristics of diseases presenting with disorders in pigmentation in children.

  3. Wegener’s granulomatosis mimicking inflammatory bowel disease and presenting with chronic enteritis

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    Shahedi K

    2013-10-01

    Full Text Available Kamyar Shahedi,1,2 Ramy Magdy Hanna,1,2 Oleg Melamed,1,2 James Wilson2,31Department of Medicine Olive-View UCLA Medical Center, Sylmar, CA, 2David Geffen School of Medicine at UCLA, Los Angeles, CA, 3UCLA Medical Center-UCLA Stone Center, Los Angeles, CA, USAAbstract: Wegener’s granulomatosis, also known as anti-neutrophil cytoplasmic antibody (ANCA-associated vasculitis, is a small vessel vasculitis with primarily pulmonary, renal, and sinus disease manifestations. The prevalence of Wegener’s granulomatosis is three cases per 100,000 patients. Cardiovascular, neurologic, cutaneous, and joint manifestations have been reported in many case reports and case series. Gastrointestinal manifestations are less noted in Wegener’s granulomatosis, although they have been previously reported in the form of intestinal perforation and intestinal ischemia. Additionally, there are characteristic findings of vasculitis that are noted with active Wegener’s granulomatosis of the small bowel. We report a case of an elderly patient who presented with weight loss, diarrhea, and hematochezia. His symptoms were chronic and had lasted for more than 1 year before diagnosis. Inflammatory bowel disease or chronic enteritis due to Salmonella arizonae because of reptile exposure originally were suspected as etiologies of his presentation. The findings of proteinuria, renal failure, and pauci-immune glomerulonephritis on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener’s granulomatosis with associated intestinal vasculitis. This case demonstrates an atypical presentation of chronic duodenitis and jejunitis secondary to Wegener’s granulomatosis, which mimicked inflammatory bowel disease.Keywords: ANCA-associated vasculitis, Wegener’s syndrome, pauci-immune glomerulonephritis, Salmonella arizonae, inflammatory bowel disease

  4. Iron-deficiency anemia as a subclinical celiac disease presentation in an Argentinian population

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    J.S. Lasa

    2017-07-01

    Full Text Available Background: There is a wide heterogeneity in the reports of celiac disease prevalence in iron-deficiency anemia patients. Aim: To determine the prevalence of celiac disease in patients with iron-deficiency anemia. Materials and methods: Adult patients with a diagnosis of iron-deficiency anemia were enrolled for upper endoscopy with duodenal biopsies. Volunteers that underwent upper endoscopy were enrolled as controls. Results: A total of 135 patients with iron-deficiency anemia and 133 controls were enrolled. Celiac disease prevalence was higher in the iron-deficiency anemia group [11.11 vs. 1.51%, OR: 8.18 (1.83-36.55, P=.001. Of the celiac disease patients in the iron-deficiency anemia group, 73.3% had at least one endoscopic sign suggesting villous atrophy, whereas 100% of the celiac disease patients in the control group presented with at least one endoscopic sign. Conclusions: Patients with iron-deficiency anemia have an increased risk for celiac disease. Up to 25% of these patients may not present any endoscopic sign suggesting villous atrophy. Resumen: Introducción: Existe una extensa heterogeneidad en los reportes de la prevalencia de enfermedad celíaca en el contexto de la anemia ferropénica. Objetivo: Determinar la prevalencia de enfermedad celíaca en pacientes con anemia ferropénica. Materiales y métodos: Pacientes adultos con anemia ferropénica fueron reclutados para realizarse una endoscopia digestiva alta con biopsia duodenal. Se reclutaron asimismo voluntarios de la comunidad como controles. Resultados: Se reclutó a 135 pacientes con anemia y 133 controles. La prevalencia de enfermedad celíaca fue mayor en el grupo de anemia (11.11% vs. 1.51%, OR 8.18 [1.83-36.55], p = 0.001; el 73.3% de los celíacos en el grupo de anémicos presentaron algún signo endoscópico de atrofia vellositaria, mientras que el 100% de los celíacos en el grupo control presentaron por lo menos un signo endoscópico. Conclusión: Los pacientes

  5. Pharmacological treatment in calcinosis cutis associated with connective-tissue diseases.

    Science.gov (United States)

    Dima, Alina; Balanescu, P; Baicus, C

    2014-01-01

    Dystrophic calcinosis cutis is a common manifestation in connective tissue diseases, but there's still no consensus on treatment. The purpose of this review is to discuss the current pharmacological options of treatment in calcinosis cutis related to rheumatic diseases. We performed an extensive MEDLINE search of articles from 1970 to January 2014 using the index word "calcinosis" and the co-indexing terms "treatment", "calcium channel blocker", "diltiazem", "nifedipine", "verapamil", "amlodipine", "anticoagulant", "warfarin", "bisphosphonate", "etidronate", "pamidronate", "alendronate", "risedronate", "aluminum hydroxide", "probenecid", "antibiotic", "tetracycline", "minocycline", "ceftriaxone", "colchicine", "intravenous immunoglobulin", "sodium thiosulfate", "TNF-alpha inhibitors", "infliximab", "rituximab", "thalidomide", "corticosteroids", "stem cell transplantation". Diltiazem is recommended by some authors as first-line approach in calcinosis cutis and is also the therapeutic principal referred by the largest number of available publications. It seems to be efficient in more than half of the reported cases. There remain, however, a significant number of patients in which another solution must be found. The general trends observed over time are of switching the search of solutions in dystrophic calcinosis cutis related to connective tissue diseases, from therapies on calcium metabolism to therapies for the underlying disease. The new options available in the management of calcinosis cutis, like biological therapies or intravenous immunoglobulin, seem to be promising, but not universally successful. In children with severe forms, hematopoietic stem cell transplantation can also be taken into consideration. Data for all therapies proposed in calcinosis cutis is generally reported in single cases and small case series and so, the existent data is all yielding a low level of evidence.

  6. Early Parkinson's disease patients on rasagiline present with better odor discrimination.

    Science.gov (United States)

    Haehner, Antje; Habersack, Angela; Wienecke, Miriam; Storch, Alexander; Reichmann, Heinz; Hummel, Thomas

    2015-11-01

    The effects of rasagiline on olfaction in animal studies are convincing. However, apart from various anecdotal patient reports, they could not be reproduced in prospective studies in humans. Cross-sectional data of large patient groups are still missing. The aim of this study was therefore to determine the olfactory function in a broad heterogeneous Parkinson's disease (PD) population with and without rasagiline intake. In this single-center, cross-sectional study 224 PD patients with and without rasagiline (1 mg/day) participated. Seventy-four of them received rasagiline as mono, or adjunct therapy. One-hundred fifty patients were untreated or received PD medication other than rasagiline. Comprehensive olfactory testing was performed for phenyl-ethyl alcohol odor thresholds, odor discrimination, and odor identification. Olfactory function did not differ between the two treatment groups with disease duration up to 29 years. Rasagiline-treated patients with disease duration of less than 8 years, however, presented with significant better odor discrimination abilities compared to PD patients without rasagiline treatment. This effect was no longer evident in patients with longer disease duration and proofed to be independent of age, sex, and medication. Our results may suggest that rasagiline treatment has a positive effect on the processing of olfactory information in early PD.

  7. Paediatric Behçet's disease presenting with recurrent papillitis and episcleritis: a case report

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    Rabach Ingrid

    2011-02-01

    Full Text Available Abstract Introduction Behçet's disease is a chronic multisystem vasculitis characterized by mucocutaneous, articular, neurological, gastrointestinal and ophthalmological lesions. Ocular involvement is mainly represented by recurrent uveitis, especially posterior uveitis; however, iridocyclitis, retinal and choroidal vasculitis, optic neuritis and retinal vascular occlusion can also occur. Case presentation A 12-year-old Caucasian boy with a history of recurrent buccal aphthosis and nonspecific gastrointestinal symptoms was admitted to our hospital with blurred vision associated with acute episcleritis and papillitis. The patient's pathergy test was positive, suggesting a diagnosis of Behçet's disease. Corticosteroid and cyclosporine therapy was started, but further episodes were noted in both eyes. The patient was then switched to intravenous infliximab, with complete resolution of the inflammation after the second infusion. Conclusion Episcleritis and papillitis should be added to the list of uncommon manifestations of pediatric Behçet's disease. Infliximab is an effective, new therapeutic approach for Behçet's disease that is refractory to the conventional corticosteroid and immunosuppressive therapy.

  8. Effect of Th17 and Treg Axis Disorder on Outcomes of Pulmonary Arterial Hypertension in Connective Tissue Diseases

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    Saren Gaowa

    2014-01-01

    Full Text Available This prospective cohort study is to verify the hypothesis that the balance of Th17 and Treg cells frequencies in the peripheral circulation is disturbed in patients with varying degrees of connective tissue diseases-associated pulmonary arterial hypertension (CTD-aPAH and to prove the influence of Th17/Treg imbalance on prognosis. We detected the frequencies and absolute counts of Th17 and Treg cells and related serum cytokines secretion and expressions of key transcription factors in 117 patients with connective tissue diseases (CTD, 53 patients with CTD-aPAH, and 48 healthy volunteers. Moreover, the median value according to levels of Th17/Treg ratios in patients with CTD-aPAH was chosen as basis of group division for survival analysis. CTD-aPAH patients revealed significant increase in peripheral Th17 cells, Th17-related cytokines, and ROR γt mRNA levels. They also presented a significant decrease in Treg cells, Treg-related cytokines, and Foxp3 mRNA levels as compared with CTD patients and healthy controls. More importantly, the Th17/Treg ratio was significantly related to the severity and prognosis of CTD-aPAH. This study indicated that the Th17/Treg axis disorder plays a critical role in CTD-aPAH. Furthermore, the dynamic balance between Th17 and Treg cells was likely to influence prognosis of patients with CTD-aPAH.

  9. Mechanisms in endocrinology: the crosstalk between thyroid gland and adipose tissue: signal integration in health and disease.

    Science.gov (United States)

    Santini, Ferruccio; Marzullo, Paolo; Rotondi, Mario; Ceccarini, Giovanni; Pagano, Loredana; Ippolito, Serena; Chiovato, Luca; Biondi, Bernadette

    2014-10-01

    Obesity and thyroid diseases are common disorders in the general population and they frequently occur in single individuals. Alongside a chance association, a direct relationship between 'thyroid and obesity' has been hypothesized. Thyroid hormone is an important determinant of energy expenditure and contributes to appetite regulation, while hormones and cytokines from the adipose tissue act on the CNS to inform on the quantity of energy stores. A continuous interaction between the thyroid hormone and regulatory mechanisms localized in adipose tissue and brain is important for human body weight control and maintenance of optimal energy balance. Whether obesity has a pathogenic role in thyroid disease remains largely a matter of investigation. This review highlights the complexity in the identification of thyroid hormone deficiency in obese patients. Regardless of the importance of treating subclinical and overt hypothyroidism, at present there is no evidence to recommend pharmacological correction of the isolated hyperthyrotropinemia often encountered in obese patients. While thyroid hormones are not indicated as anti-obesity drugs, preclinical studies suggest that thyromimetic drugs, by targeting selected receptors, might be useful in the treatment of obesity and dyslipidemia. © 2014 European Society of Endocrinology.

  10. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.

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    Ehud Goldin

    Full Text Available Gaucher disease (GD, the most common lysosomal storage disorder, results from the inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCase. Previously, wildtype GCase was used for high throughput screening (HTS of large collections of compounds to identify small molecule chaperones that could be developed as new therapies for GD. However, the compounds identified from HTS usually showed reduced potency later in confirmatory cell-based assays. An alternate strategy is to perform HTS on mutant enzyme to identify different lead compounds, including those enhancing mutant enzyme activities. We developed a new screening assay using enzyme extract prepared from the spleen of a patient with Gaucher disease with genotype N370S/N370S. In tissue extracts, GCase is in a more native physiological environment, and is present with the native activator saposin C and other potential cofactors. Using this assay, we screened a library of 250,000 compounds and identified novel modulators of mutant GCase including 14 new lead inhibitors and 30 lead activators. The activities of some of the primary hits were confirmed in subsequent cell-based assays using patient-derived fibroblasts. These results suggest that primary screening assays using enzyme extracted from tissues is an alternative approach to identify high quality, physiologically relevant lead compounds for drug development.

  11. [Adipose tissue hormones and nutritional status in chronic obstructive pulmonary disease].

    Science.gov (United States)

    Nevzorova, V A; Barkhatova, D A; Kudriavtseva, V A; Luk'ianov, P A

    2009-01-01

    To study nutritional status in chronic obstructive pulmonary disease (COPD) in relation to the serum content of adipose tissue hormones. Ninety-four patients with Stages II and III COPD and 20 gender- and age-matched healthy non-smoking volunteers were examined. Interviews, analysis of laboratory data, enzyme immunoassay, and somatometry were made. The patients with COPD are characterized by the development of malnutrition, even in the absence of body weight loss and in the presence of normal body mass index (BMI) with predominant lean body mass (LBM) loss, normal serum concentrations of adipose tissue hormones. With more advanced COPD and a worse nutritional status, the level of leptin decreases and that of adiponectin increases. The content of adiponectins is closely related to the indicators of nutritional status, mainly to the value of body weight loss, BMI, LBM, absolute blood lymphocyte count, and degree of malnutrition. The COPD patients with emphysema show the most pronounced changes in nutritional status and higher adiponectin levels. An integrated assessment of the degree of protein-energy malnutrition and measurement of the level of adipose tissue hormones should be made when nutritional status is studied in patients with COPD.

  12. Suspected idiopathic sclerosing orbital inflammation presenting as immunoglobulin G4-related disease: a case report

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    Nakamura Noriko

    2011-09-01

    Full Text Available Abstract Introduction Idiopathic sclerosing orbital inflammation is a rare and ill-defined heterogeneous entity, and a distinct subset of orbital inflammation. Recently, attention has been focused on immunoglobulin G4-related disease complicated with fibrotic changes in some other organs with high serum immunoglobulin G4 levels. This report presents a case of suspected idiopathic sclerosing orbital inflammation complicated with high serum immunoglobulin G4 levels. Case presentation An 82-year-old Japanese woman had a 30-year history of chronic thyroiditis. She experienced right ptosis and eyelid swelling. These symptoms gradually developed over five years. The clinical and radiographic findings suggested that our patient had idiopathic sclerosing orbital inflammation. We were unable to obtain our patient's consent to perform a biopsy. While the serum immunoglobulin G level was within the normal limits, the serum immunoglobulin G4 level was significantly elevated. The serum immunoglobulin G4 levels decreased after the administration of oral prednisolone at a daily dose of 20 mg. In addition, the swelling and ptosis of the right upper eyelid disappeared gradually after four weeks. Our patient was then suspected to have idiopathic sclerosing orbital inflammation complicated with immunoglobulin G4-related disease and chronic thyroiditis. Conclusion An orbital pseudotumor of this type is indicative of idiopathic sclerosing orbital inflammation immunoglobulin G4-related disease. Immunoglobulin G4 may thus be considered a subclass of immunoglobulin G when the serum immunoglobulin G level is within normal limits.

  13. Respiratory failure presenting in H1N1 influenza with Legionnaires disease: two case reports

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    Iannuzzi Michele

    2011-10-01

    Full Text Available Abstract Introduction Media sensationalism on the H1N1 outbreak may have influenced decisional processes and clinical diagnosis. Case Presentation We report two cases of patients who presented in 2009 with coexisting H1N1 virus and Legionella infections: a 69-year-old Caucasian man and a 71-year-old Caucasian woman. In our cases all the signs and symptoms, including vomiting, progressive respiratory disease leading to respiratory failure, refractory hypoxemia, leukopenia, lymphopenia, thrombocytopenia, and elevated levels of creatine kinase and hepatic aminotransferases, were consistent with critical illness due to 2009 H1N1 virus infection. Other infectious disorders may mimic H1N1 viral infection especially Legionnaires' disease. Because the swine flu H1N1 pandemic occurred in Autumn in Italy, Legionnaires disease was to be highly suspected since the peak incidence usually occurs in early fall. We do think that our immediate suspicion of Legionella infection based on clinical history and X-ray abnormalities was fundamental for a successful resolution. Conclusion Our two case reports suggest that patients with H1N1 should be screened for Legionella, which is not currently common practice. This is particularly important since the signs and symptoms of both infections are similar.

  14. Large Cell Neuroendocrine Carcinoma of the Rectum Presenting with Extensive Metastatic Disease

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    Vinay Minocha

    2014-01-01

    Full Text Available Introduction. Rectal large cell neuroendocrine carcinoma (LCNEC is a poorly differentiated neoplasm that is very rare and belongs within the poorest prognostic subgroup among primary colorectal neoplasms. Here, we describe a case of LCNEC of the rectum, which highlights the aggressive clinical course and poor prognosis associated with this disease. Case Presentation. We report a case of a 63-year-old male who presented to our hospital with a one-month history of lower abdominal pain, constipation, and weight loss. A computed tomography (CT scan of the chest, abdomen, and pelvis revealed a rectal mass as well as metastatic disease of the liver and lung. Flexible sigmoidoscopy revealed a fungating, ulcerated and partially obstructing rectal mass located 6 cm from the anal verge. This mass was biopsied and pathological examination of the resected specimen revealed features consistent with a large cell neuroendocrine carcinoma. Conclusion. Rectal large cell neuroendocrine carcinomas are rare and have a significantly worse prognosis than adenocarcinomas. At diagnosis, a higher stage and metastatic disease are likely to be found. It is important to differentiate large cell, poorly differentiated neuroendocrine carcinomas from adenocarcinomas of the colon and rectum pathologically because patients may benefit from alternative cytotoxic chemotherapeutic regimens.

  15. A Case Report of Cushing’s Disease Presenting as Hair Loss

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    Emily G. Lefkowitz

    2017-02-01

    Full Text Available Cushing’s syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing’s syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing’s disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing’s syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing’s disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

  16. Biodiversity of Borrelia burgdorferi strains in tissues of Lyme disease patients.

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    Dustin Brisson

    Full Text Available Plant and animal biodiversity are essential to ecosystem health and can provide benefits to humans ranging from aesthetics to maintaining air quality. Although the importance of biodiversity to ecology and conservation biology is obvious, such measures have not been applied to strains of an invasive bacterium found in human tissues during infection. In this study, we compared the strain biodiversity of Borrelia burgdorferi found in tick populations with that found in skin, blood, synovial fluid or cerebrospinal fluid of Lyme disease patients. The biodiversity of B. burgdorferi strains is significantly greater in tick populations than in the skin of patients with erythema migrans. In turn, strains from skin are significantly more diverse than strains at any of the disseminated sites. The cerebrospinal fluid of patients with neurologic Lyme disease harbored the least pathogen biodiversity. These results suggest that human tissues act as niches that can allow entry to or maintain only a subset of the total pathogen population. These data help to explain prior clinical observations on the natural history of B. burgdorferi infection and raise several questions that may help to direct future research to better understand the pathogenesis of this infection.

  17. Perivascular adipose tissue as a regulator of vascular disease pathogenesis: identifying novel therapeutic targets.

    Science.gov (United States)

    Akoumianakis, Ioannis; Tarun, Akansha; Antoniades, Charalambos

    2017-10-01

    Adipose tissue (AT) is an active endocrine organ with the ability to dynamically secrete a wide range of adipocytokines. Importantly, its secretory profile is altered in various cardiovascular disease states. AT surrounding vessels, or perivascular AT (PVAT), is recognized in particular as an important local regulator of vascular function and dysfunction. Specifically, PVAT has the ability to sense vascular paracrine signals and respond by secreting a variety of vasoactive adipocytokines. Due to the crucial role of PVAT in regulating many aspects of vascular biology, it may constitute a novel therapeutic target for the prevention and treatment of vascular disease pathogenesis. Signalling pathways in PVAT, such as those using adiponectin, H 2 S, glucagon-like peptide 1 or pro-inflammatory cytokines, are among the potential novel pharmacological therapeutic targets of PVAT. This article is part of a themed section on Molecular Mechanisms Regulating Perivascular Adipose Tissue - Potential Pharmacological Targets? To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v174.20/issuetoc. © 2016 The British Pharmacological Society.

  18. An unusual stroke-like clinical presentation of Creutzfeldt-Jakob disease: acute vestibular syndrome.

    Science.gov (United States)

    Mantokoudis, Georgios; Saber Tehrani, Ali S; Newman-Toker, David E

    2015-04-01

    Vertigo and dizziness are common neurological symptoms in general practice. Most patients have benign peripheral vestibular disorders, but some have dangerous central causes. Recent research has shown that bedside oculomotor examinations accurately discriminate central from peripheral lesions in those with new, acute, continuous vertigo/dizziness with nausea/vomiting, gait unsteadiness, and nystagmus, known as the acute vestibular syndrome. A 56-year-old man presented to the emergency department with acute vestibular syndrome for 1 week. The patient had no focal neurological symptoms or signs. The presence of direction-fixed, horizontal nystagmus suppressed by visual fixation without vertical ocular misalignment (skew deviation) was consistent with an acute peripheral vestibulopathy, but bilaterally normal vestibuloocular reflexes, confirmed by quantitative horizontal head impulse testing, strongly indicated a central localization. Because of a long delay in care, the patient left the emergency department without treatment. He returned 1 week later with progressive gait disturbance, limb ataxia, myoclonus, and new cognitive deficits. His subsequent course included a rapid neurological decline culminating in home hospice placement and death within 1 month. Magnetic resonance imaging revealed restricted diffusion involving the basal ganglia and cerebral cortex. Spinal fluid 14-3-3 protein was elevated. The rapidly progressive clinical course with dementia, ataxia, and myoclonus plus corroborative neuroimaging and spinal fluid findings confirmed a clinicoradiographic diagnosis of Creutzfeldt-Jacob disease. To our knowledge, this is the first report of an initial presentation of Creutzfeldt-Jacob disease closely mimicking vestibular neuritis, expanding the known clinical spectrum of prion disease presentations. Despite the initial absence of neurological signs, the central lesion location was differentiated from a benign peripheral vestibulopathy at the first visit

  19. Unraveling Chagas disease transmission through the oral route: Gateways to Trypanosoma cruzi infection and target tissues

    Science.gov (United States)

    Silva-dos-Santos, Danielle; Barreto-de-Albuquerque, Juliana; Guerra, Bárbara; Moreira, Otacilio C.; Berbert, Luiz Ricardo; Ramos, Mariana Tavares; Mascarenhas, Barbara Angelica S.; Britto, Constança; Morrot, Alexandre; Serra Villa-Verde, Déa M.; Garzoni, Luciana Ribeiro; Savino, Wilson; Cotta-de-Almeida, Vinícius; de Meis, Juliana

    2017-01-01

    Oral transmission of Trypanosoma cruzi, the causative agent of Chagas disease, is the most important route of infection in Brazilian Amazon and Venezuela. Other South American countries have also reported outbreaks associated with food consumption. A recent study showed the importance of parasite contact with oral cavity to induce a highly severe acute disease in mice. However, it remains uncertain the primary site of parasite entry and multiplication due to an oral infection. Here, we evaluated the presence of T. cruzi Dm28c luciferase (Dm28c-luc) parasites in orally infected mice, by bioluminescence and quantitative real-time PCR. In vivo bioluminescent images indicated the nasomaxillary region as the site of parasite invasion in the host, becoming consistently infected throughout the acute phase. At later moments, 7 and 21 days post-infection (dpi), luminescent signal is denser in the thorax, abdomen and genital region, because of parasite dissemination in different tissues. Ex vivo analysis demonstrated that the nasomaxillary region, heart, mandibular lymph nodes, liver, spleen, brain, epididymal fat associated to male sex organs, salivary glands, cheek muscle, mesenteric fat and lymph nodes, stomach, esophagus, small and large intestine are target tissues at latter moments of infection. In the same line, amastigote nests of Dm28c GFP T. cruzi were detected in the nasal cavity of 6 dpi mice. Parasite quantification by real-time qPCR at 7 and 21 dpi showed predominant T. cruzi detection and expansion in mouse nasal cavity. Moreover, T. cruzi DNA was also observed in the mandibular lymph nodes, pituitary gland, heart, liver, small intestine and spleen at 7 dpi, and further, disseminated to other tissues, such as the brain, stomach, esophagus and large intestine at 21 dpi. Our results clearly demonstrated that oral cavity and adjacent compartments is the main target region in oral T. cruzi infection leading to parasite multiplication at the nasal cavity. PMID

  20. Unraveling Chagas disease transmission through the oral route: Gateways to Trypanosoma cruzi infection and target tissues.

    Science.gov (United States)

    Silva-Dos-Santos, Danielle; Barreto-de-Albuquerque, Juliana; Guerra, Bárbara; Moreira, Otacilio C; Berbert, Luiz Ricardo; Ramos, Mariana Tavares; Mascarenhas, Barbara Angelica S; Britto, Constança; Morrot, Alexandre; Serra Villa-Verde, Déa M; Garzoni, Luciana Ribeiro; Savino, Wilson; Cotta-de-Almeida, Vinícius; Meis, Juliana de

    2017-04-01

    Oral transmission of Trypanosoma cruzi, the causative agent of Chagas disease, is the most important route of infection in Brazilian Amazon and Venezuela. Other South American countries have also reported outbreaks associated with food consumption. A recent study showed the importance of parasite contact with oral cavity to induce a highly severe acute disease in mice. However, it remains uncertain the primary site of parasite entry and multiplication due to an oral infection. Here, we evaluated the presence of T. cruzi Dm28c luciferase (Dm28c-luc) parasites in orally infected mice, by bioluminescence and quantitative real-time PCR. In vivo bioluminescent images indicated the nasomaxillary region as the site of parasite invasion in the host, becoming consistently infected throughout the acute phase. At later moments, 7 and 21 days post-infection (dpi), luminescent signal is denser in the thorax, abdomen and genital region, because of parasite dissemination in different tissues. Ex vivo analysis demonstrated that the nasomaxillary region, heart, mandibular lymph nodes, liver, spleen, brain, epididymal fat associated to male sex organs, salivary glands, cheek muscle, mesenteric fat and lymph nodes, stomach, esophagus, small and large intestine are target tissues at latter moments of infection. In the same line, amastigote nests of Dm28c GFP T. cruzi were detected in the nasal cavity of 6 dpi mice. Parasite quantification by real-time qPCR at 7 and 21 dpi showed predominant T. cruzi detection and expansion in mouse nasal cavity. Moreover, T. cruzi DNA was also observed in the mandibular lymph nodes, pituitary gland, heart, liver, small intestine and spleen at 7 dpi, and further, disseminated to other tissues, such as the brain, stomach, esophagus and large intestine at 21 dpi. Our results clearly demonstrated that oral cavity and adjacent compartments is the main target region in oral T. cruzi infection leading to parasite multiplication at the nasal cavity.