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Sample records for fabry disease patients

  1. Fabry disease.

    PubMed

    Schiffmann, Raphael

    2015-01-01

    Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population. Recent studies suggested a much higher incidence of mutations of the GLA gene, suggesting that this disorder is under-diagnosed. However, some of the gene variants may be benign. Although the etiology of Fabry disease has been known for many years, the mechanism by which the accumulating α-D-galactosyl moieties cause this multi organ disorder has only recently been studied and is yet to be completely elucidated. Specific therapy for Fabry disease has been developed in the last few years but its role in the management of the disorder is still being investigated. Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease. PMID:26564084

  2. Fabry disease

    PubMed Central

    2010-01-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs

  3. Agalsidase benefits renal histology in young patients with Fabry disease.

    PubMed

    Tøndel, Camilla; Bostad, Leif; Larsen, Kristin Kampevold; Hirth, Asle; Vikse, Bjørn Egil; Houge, Gunnar; Svarstad, Einar

    2013-01-01

    The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown. Here, we evaluated the effect of 5 years of treatment with agalsidase alfa or agalsidase beta in 12 consecutive patients age 7-33 years (median age, 16.5 years). We performed renal biopsies at baseline and after 5 years of enzyme replacement therapy; 7 patients had additional biopsies after 1 and 3 years. After a median of 65 months, biopsy findings from all patients showed total clearance of glomerular endothelial and mesangial cell inclusions, and findings from 2 patients showed complete clearance of inclusions from epithelial cells of the distal tubule. The 4 patients who received the highest dose of agalsidase exhibited substantial clearance of podocyte inclusions, and the youngest patient had nearly complete clearance of these inclusions. Linear regression analysis showed a highly significant correlation between podocyte globotriaocylceramide clearance and cumulative agalsidase dose (r=0.804; P=0.002). Microalbuminuria normalized in five patients. In summary, long-term enzyme replacement therapy in young patients can result in complete globotriaocylceramide clearance of mesangial and glomerular endothelial cells across all dosage regimens, and clearance of podocyte inclusions is dose-dependent.

  4. Fabry Disease

    MedlinePlus

    ... kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal ... of complications from strokes, heart disease, or kidney failure. What research is being done? The mission of ...

  5. The Psychosocial Impact of Fabry Disease on Pediatric Patients.

    PubMed

    Bugescu, Nicolle; Naylor, Paige E; Hudson, Kyr; Aoki, Christa D; Cordova, Matthew J; Packman, Wendy

    2016-09-01

    Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the impact of FD in children and adolescents. Therefore, the present study examined the differences of quality of life, psychosocial functioning, and depression in children with FD as compared with a healthy sample. Results indicated that children with FD were experiencing poorer quality of life than their healthy counterparts. Notably, results consistently identified adolescents with FD as more heavily impacted than younger children, although not to the same degree as adults with FD as reported in previous studies. Therefore, adolescence may be a critical point in the development of individuals with FD during which effective multidisciplinary interventions could be utilized to prevent poor quality of life and psychosocial functioning in adulthood. PMID:27617155

  6. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

    PubMed Central

    Ortiz, Alberto; Abiose, Ademola; Bichet, Daniel G; Cabrera, Gustavo; Charrow, Joel; Germain, Dominique P; Hopkin, Robert J; Jovanovic, Ana; Linhart, Aleš; Maruti, Sonia S; Mauer, Michael; Oliveira, João P; Patel, Manesh R; Politei, Juan; Waldek, Stephen; Wanner, Christoph; Yoo, Han-Wook; Warnock, David G

    2016-01-01

    Background Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase β cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a ‘lag time’ to clinical benefit after initiating agalsidase β treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase β. Methods The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase β (average dose 1 mg/kg every 2 weeks) for up to 5 years. Results The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40–58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase β was initiated. Conclusions Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase β 1 mg/kg every 2 weeks. Trial registration number NCT00196742. PMID:26993266

  7. Paediatric Fabry disease.

    PubMed

    Ellaway, Carolyn

    2016-01-01

    Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms. PMID:26835405

  8. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)

    PubMed Central

    Hoffmann, B; d Garcia; Mehta, A; Beck, M; Widmer, U; Ricci, R; on, b

    2005-01-01

    Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all tissues, including the blood vessels, kidney, myocardium, and nervous system. Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites. Aims: This study set out to evaluate pain and its influence on quality of life in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase alfa. Methods: Data were obtained from the Fabry Outcome Survey. Pain was measured using the Brief Pain Inventory (BPI), and health-related quality of life (HRQoL) was documented with the European Quality of Life Questionnaire (EQ-5D). Results: The mean (SD) score for "pain at its worst" on the BPI prior to ERT was 5.1 (2.7). One year after commencement of ERT, this had improved by 0.5, and improved by a further 0.6 after 2 years (p<0.05). Similar statistically significant improvements were seen for "pain on average" and "pain now" after 2 years of ERT. The mean HRQoL utility score prior to ERT was 0.66 (0.32). After 12 months of treatment with agalsidase alfa, this had improved to 0.74 (0.26; p<0.05); this improvement was maintained after 2 years. Conclusions: ERT with agalsidase alfa significantly reduces pain and improves quality of life in patients with Fabry disease. PMID:15744039

  9. Genetics Home Reference: Fabry disease

    MedlinePlus

    ... National Organization for Rare Disorders (NORD) National Tay-Sachs & Allied Diseases Association, Inc. Resource list from the ... Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, ...

  10. Social-adaptive and psychological functioning of patients affected by Fabry disease.

    PubMed

    Laney, Dawn Alyssia; Gruskin, Daniel J; Fernhoff, Paul M; Cubells, Joseph F; Ousley, Opal Y; Hipp, Heather; Mehta, Ami J

    2010-12-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. In addition to the debilitating physical symptoms of FD, there are also under-recognized and poorly characterized psychiatric features. As a first step toward characterizing psychiatric features of FD, we administered the Achenbach adult self report questionnaire to 30 FD patients and the Achenbach adult behavior checklist questionnaire to 28 partners/parents/friends of FD patients. Data from at least one of the questionnaires were available on 33 subjects. Analysis focused on social-adaptive functioning in various aspects of daily life and on criteria related to the Diagnostic and statistical manual of mental disorders IV (DSM-IV). Adaptive functioning scale values, which primarily measure social and relationship functioning and occupational success, showed that eight FD patients (six female and two male) had mean adaptive functioning deficits as compared to population norms. Greater rates of depression (P < 0.01), anxiety (P = 0.05), depression and anxiety (P = 0.03), antisocial personality (P < 0.001), attention-deficit/hyperactivity (AD/H; P < 0.01), hyperactivity-impulsivity (P < 0.01), and aggressive behavior (P = 0.03) were associated with poorer adaptive functioning. Decreased social-adaptive functioning in this study was not statistically significantly associated to disease severity, pain, or level of vitality. This study shows for the first time that FD patients, particularly women, are affected by decreased social-adaptive functioning. Comprehensive treatment plans for FD should consider assessments and interventions to evaluate and improve social, occupational, and psychological functioning. Attention to the behavioral aspects of FD could lead to improved treatment outcome and improved quality of life. Individuals affected by Fabry disease exhibited social-adaptive functioning deficits that were significantly correlated with anxiety

  11. Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients

    PubMed Central

    Müller, Karen B.; Galdieri, Luciano C.; Pereira, Vanessa G.; Martins, Ana M.; D’Almeida, Vânia

    2012-01-01

    Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, but the mechanisms by which it produces cardiovascular damage are still poorly understood. Regarding the vascular involvement in FD patients, the analysis of factors related to thromboembolic events could be useful to improving our understanding of the disease. The aim of this study was to evaluate plasma Hcy and other parameters involved in the methionine cycle, as well as oxidative stress markers. The sample consisted of a group of 10 male FD patients and a control group of 8 healthy individuals, paired by age. Venous blood was collected for Hcy determination, molecular analysis, identification of thiobarbituric acid reactive substances, total glutathione and antioxidant enzymes activity, as well as vitamins quantification. Comparative analysis of FD patients versus the control group indicated hyperhomocysteinemia in 8 of the 10 FD patients, as well as a significant increase in overall glutathione levels and catalase activity. It is inferred that FD patients, apart from activation of the antioxidant system, present increased levels of plasma Hcy, although this is probably unrelated to common alterations in the methionine cycle. PMID:22888289

  12. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients. PMID:27225851

  13. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.

  14. Renal involvement in Fabry disease.

    PubMed

    Abensur, Hugo; Reis, Marlene Antônia Dos

    2016-06-01

    Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders and renal involvement. Renal involvement occurs due to Gb3 accumulation in all types of renal cells. Therefore, patients may present glomerular and tubular function disorders. Podocytes are particularly affected, with pedicels effacement and development of proteinuria. The diagnosis is made by detection of reduced plasma or leukocyte α-galactosidase activity and genetic study for detecting the α-galactosidase gene mutation. Treatment with enzyme replacement contributes to delay the progression of kidney disease, especially if initiated early. PMID:27438980

  15. Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

    PubMed

    Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yıldırım; Kurtulgan, Hande Kucuk; Kayatas, Mansur

    2016-08-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF. PMID:27105876

  16. Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

    PubMed

    Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yıldırım; Kurtulgan, Hande Kucuk; Kayatas, Mansur

    2016-08-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.

  17. The Renal History of Fabry Disease.

    PubMed

    Gaggl, Martina; El-Hadi, Sarah; Aigner, Christof; Sunder-Plassmann, Gere

    2016-02-01

    In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia revealed sclerosis of glomeruli. At this time the presence of a thesaurismosis was also considered. The first renal needle biopsy in 1958 showed vacuolation and distension of the cells of the glomerular tufts and distal tubules suggestive of a storage disorder. The ability to concentrate the urine was also impaired in these patients. Sweely und Klionsky in 1963 demonstrated that the major storage component is a trihexoside. As of 1967 Roscoe Brady finally described the deficiency of the enzyme ceramidetrihexosidase/-galactosidase A characteristic in patients with Fabry disease. PMID:26913882

  18. Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease.

    PubMed

    Hirashio, S; Taguchi, T; Naito, T; Maki, K; Ogata, S; Taniyama, K; Taniguchi, Y; Yorioka, N

    2009-05-01

    A 38-year-old man underwent renal biopsy because of proteinuria. It revealed swelling and vacuolation of glomerular epithelial cells, as well as myelin-like structures characteristic of Fabry's disease. Detection of decreased plasma activity of alpha-galactosidase A confirmed the diagnosis. Enzyme replacement therapy was provided with recombinant agalsidase-beta, resulting in improvement of his symptoms. When renal biopsy was repeated, specific staining for globotriaosylceramide showed that renal deposits were decreased by enzyme therapy.

  19. A comprehensive Fabry-related pain questionnaire for adult patients.

    PubMed

    Üçeyler, Nurcan; Magg, Barbara; Thomas, Phillip; Wiedmann, Silke; Heuschmann, Peter; Sommer, Claudia

    2014-11-01

    Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype.

  20. Preselective gene therapy for Fabry disease

    PubMed Central

    Qin, Gangjian; Takenaka, Toshihiro; Telsch, Kimberly; Kelley, Leslie; Howard, Tazuko; Levade, Thierry; Deans, Robert; Howard, Bruce H.; Malech, Harry L.; Brady, Roscoe O.; Medin, Jeffrey A.

    2001-01-01

    Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme α-galactosidase A (α-gal A; EC 3.2.1.22). We previously have demonstrated long-term α-gal A enzyme correction and lipid reduction mediated by therapeutic ex vivo transduction and transplantation of hematopoietic cells in a mouse model of Fabry disease. We now report marked improvement in the efficiency of this gene-therapy approach. For this study we used a novel bicistronic retroviral vector that engineers expression of both the therapeutic α-gal A gene and the human IL-2Rα chain (huCD25) gene as a selectable marker. Coexpression of huCD25 allowed selective immunoenrichment (preselection) of a variety of transduced human and murine cells, resulting in enhanced intracellular and secreted α-gal A enzyme activities. Of particular significance for clinical applicability, mobilized CD34+ peripheral blood hematopoietic stem/progenitor cells from Fabry patients have low-background huCD25 expression and could be enriched effectively after ex vivo transduction, resulting in increased α-gal A activity. We evaluated effects of preselection in the mouse model of Fabry disease. Preselection of transduced Fabry mouse bone marrow cells elevated the level of multilineage gene-corrected hematopoietic cells in the circulation of transplanted animals and improved in vivo enzymatic activity levels in plasma and organs for more than 6 months after both primary and secondary transplantation. These studies demonstrate the potential of using a huCD25-based preselection strategy to enhance the clinical utility of ex vivo hematopoietic stem/progenitor cell gene therapy of Fabry disease and other disorders. PMID:11248095

  1. Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

    PubMed

    Oder, Daniel; Nordbeck, Peter; Wanner, Christoph

    2016-01-01

    Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future. PMID:27576727

  2. Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

    PubMed

    Oder, Daniel; Nordbeck, Peter; Wanner, Christoph

    2016-01-01

    Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future.

  3. Multiple parapelvic cysts in Fabry disease.

    PubMed

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia

    2016-01-01

    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis. PMID:27061865

  4. Multiple parapelvic cysts in Fabry disease.

    PubMed

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia

    2016-01-01

    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.

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

    PubMed Central

    Chang, Youn Hyuk

    2013-01-01

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

  6. Electrocardiographic Changes and Arrhythmia in Fabry Disease

    PubMed Central

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000–170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3–6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  7. Electrocardiographic Changes and Arrhythmia in Fabry Disease.

    PubMed

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000-170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3-6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  8. Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?

    PubMed

    Politei, J; Schenone, A B; Cabrera, G; Heguilen, R; Szlago, M

    2016-01-01

    We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild improvement was detected in agalsidasa alfa-treated patients after 1 year with posterior increase. During the agalsidase beta shortage, two male patients were switched to agalsidasa alfa, after 1 year both cases presented an increase in scale values. Renal evolution showed a tendency toward a decrease in proteinuria in patients using agalsidase beta and worsening with agalsidase alfa. We found improvement in two females using agalsidase beta and no changes in the other cases regarding cardiac functioning. Brain magnetic resonance imaging (MRI) showed increase of white matter lesions in four patients. Improvement and stabilization in neuropathic pain, renal and cardiac functioning and brain MRI were found mainly in patients treated with agalsidase beta. Following the reported recommendations on reintroduction of agalsidase beta after the enzyme shortage, we decided to switch all patients to agalsidase beta.

  9. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

    PubMed Central

    Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Sokolovkiy, Alexey; Smith, Kelly; Mauer, Michael

    2016-01-01

    Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry disease. We developed an unbiased electron microscopic stereological method to estimate the average volume of podocytes and their GL3 inclusions in 6 paired pre- and post-enzyme replacement therapy (ERT) biopsies from 5 men with Fabry disease. Podocyte GL3 content was regularly reduced (average 73%) after 11–12 months of ERT. This was not detectable using a semi-quantitative approach. Parallel to GL3 reduction, podocytes became remarkably smaller (average 63%). These reductions in podocyte GL3 content or size were not significantly correlated with changes in foot process width (FPW). However, FPW after ERT was significantly correlated with the magnitude of the decrease in podocyte GL3 content from baseline to 11–12 months of ERT. Also podocytes exocytosed GL3 inclusions, a phenomenon correlated with their reduction in their GL3 content. Demonstrable after11–12 months, reduction in podocyte GL3 content allows for early assessment of treatment efficacy and shorter clinical trials in Fabry disease. PMID:27081853

  10. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease.

    PubMed

    Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Sokolovkiy, Alexey; Smith, Kelly; Mauer, Michael

    2016-01-01

    Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry disease. We developed an unbiased electron microscopic stereological method to estimate the average volume of podocytes and their GL3 inclusions in 6 paired pre- and post-enzyme replacement therapy (ERT) biopsies from 5 men with Fabry disease. Podocyte GL3 content was regularly reduced (average 73%) after 11-12 months of ERT. This was not detectable using a semi-quantitative approach. Parallel to GL3 reduction, podocytes became remarkably smaller (average 63%). These reductions in podocyte GL3 content or size were not significantly correlated with changes in foot process width (FPW). However, FPW after ERT was significantly correlated with the magnitude of the decrease in podocyte GL3 content from baseline to 11-12 months of ERT. Also podocytes exocytosed GL3 inclusions, a phenomenon correlated with their reduction in their GL3 content. Demonstrable after11-12 months, reduction in podocyte GL3 content allows for early assessment of treatment efficacy and shorter clinical trials in Fabry disease. PMID:27081853

  11. Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case-control study.

    PubMed

    Sahuc, Pauline; Chiche, Laurent; Dussol, Bertrand; Pouget, Jean; Franques, Jérôme

    2016-01-01

    Hypohidrosis is a frequent and early symptom in patients with Fabry disease. Studies have reported improved sweating in patients treated with enzyme-replacement therapy. A new method, Sudoscan, has been developed that is noninvasive, is quantitative, and can quickly evaluate sweat gland function. It is based on the electrochemical reaction between sweat chlorides and stainless-steel electrodes in contact with the palms and soles. The aim of our study was to evaluate the Sudoscan as a tool to assess sudomotor dysfunction in patients with Fabry disease. Consecutive patients were prospectively recruited who had a diagnosis of Fabry disease, which had been confirmed genetically and/or by measurement of α-galactosidase activity in leukocytes. Healthy controls, matched (1:1) for age and sex, were also enrolled. Test results were expressed immediately as electrochemical skin conductance (ESC, µS) for hands and feet. Sudomotor dysfunction was considered absent, moderate, or severe if the ESC measured on the feet was >60 µS, between 60 and 40 µS, or <40 µS, respectively. Among the 18 patients, 11 had hypohidrosis or anhidrosis. Hand and feet ESCs were significantly lower in patients compared to their controls (P=0.0015 and P=0.0047, respectively). Among patients, 8/18 (44.5%) had a sudomotor dysfunction, moderate in three and severe in five cases. Hand and feet ESCs were significantly lower in those with hypohidrosis/anhidrosis compared to those without (P=0.0014 and P=0.0056, respectively). This study showed that Sudoscan provided a quick, noninvasive, and quantitative measurement of sudomotor function in Fabry disease patients. PMID:26893567

  12. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

    PubMed Central

    Oder, Daniel; Üçeyler, Nurcan; Liu, Dan; Hu, Kai; Petritsch, Bernhard; Sommer, Claudia; Ertl, Georg; Wanner, Christoph; Nordbeck, Peter

    2016-01-01

    Objectives The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. Setting and participants In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included. Primary and secondary outcome measures Cardiac, nephrological, neurological, laboratory and quality of life data. Results AgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m2; LV global longitudinal strain −21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter. Conclusions The results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD. PMID:27059467

  13. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

    PubMed

    Ishii, Satoshi; Chang, Hui-Hwa; Kawasaki, Kunito; Yasuda, Kayo; Wu, Hui-Li; Garman, Scott C; Fan, Jian-Qiang

    2007-09-01

    Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular mechanism underlying alpha-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal K(m) and V(max) values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) alpha-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q alpha-Gal A mutants indicated that the mutant protein was retained in the ER and degraded without processing. Addition of DGJ (1-deoxygalactonojirimycin) to the culture medium of COS-7 cells transfected with a large set of missense mutant alpha-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. In addition, the residual enzyme activity in fibroblasts or lymphoblasts from both classic and variant hemizygous Fabry disease patients carrying a variety of missense mutations could be substantially increased by cultivation of the cells with DGJ. These results indicate that a large proportion of mutant enzymes in patients with residual enzyme activity are kinetically active. Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations.

  14. Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

    PubMed Central

    Ishii, Satoshi; Chang, Hui-Hwa; Kawasaki, Kunito; Yasuda, Kayo; Wu, Hui-Li; Garman, Scott C.; Fan, Jian-Qiang

    2007-01-01

    Fabry disease is a lysosomal storage disorder caused by the deficiency of α-Gal A (α-galactosidase A) activity. In order to understand the molecular mechanism underlying α-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal Km and Vmax values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) α-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q α-Gal A mutants indicated that the mutant protein was retained in the ER and degraded without processing. Addition of DGJ (1-deoxygalactonojirimycin) to the culture medium of COS-7 cells transfected with a large set of missense mutant α-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant α-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. In addition, the residual enzyme activity in fibroblasts or lymphoblasts from both classic and variant hemizygous Fabry disease patients carrying a variety of missense mutations could be substantially increased by cultivation of the cells with DGJ. These results indicate that a large proportion of mutant enzymes in patients with residual enzyme activity are kinetically active. Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations. PMID:17555407

  15. Pituitary function and morphology in Fabry disease.

    PubMed

    Maione, Luigi; Tortora, Fabio; Modica, Roberta; Ramundo, Valeria; Riccio, Eleonora; Daniele, Aurora; Belfiore, Maria Paola; Colao, Annamaria; Pisani, Antonio; Faggiano, Antongiulio

    2015-11-01

    Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications.

  16. Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

    PubMed Central

    2012-01-01

    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. PMID:22507244

  17. Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients.

    PubMed

    Boutin, Michel; Lavoie, Pamela; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and galabiosylceramide (Ga2 ) in organs, tissues and biological fluids. A recent metabolomic study performed in plasma revealed lyso-Gb3 analogs as novel Fabry disease biomarkers. These molecules correspond to lyso-Gb3 with different chemical modifications on the sphingosine chain (-C2 H4 , -H2 , +O, +H2 O, +H2 O2, and +H2 O3 ). An ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) method was developed and validated for the multiplex analysis of lyso-Gb3 and its 6 analogs in plasma. The samples are prepared by solid phase extraction using mixed-mode strong cation exchange (MCX) cartridges. An in-house synthesized N-glycinated lyso-Gb3 derivative was used for the internal standard. The limits of detection (LODs) measured for lyso-Gb3 and its analogs ranged from 0.06 to 0.29 nM. © 2016 by John Wiley & Sons, Inc.

  18. Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients.

    PubMed

    Boutin, Michel; Lavoie, Pamela; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and galabiosylceramide (Ga2 ) in organs, tissues and biological fluids. A recent metabolomic study performed in plasma revealed lyso-Gb3 analogs as novel Fabry disease biomarkers. These molecules correspond to lyso-Gb3 with different chemical modifications on the sphingosine chain (-C2 H4 , -H2 , +O, +H2 O, +H2 O2, and +H2 O3 ). An ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) method was developed and validated for the multiplex analysis of lyso-Gb3 and its 6 analogs in plasma. The samples are prepared by solid phase extraction using mixed-mode strong cation exchange (MCX) cartridges. An in-house synthesized N-glycinated lyso-Gb3 derivative was used for the internal standard. The limits of detection (LODs) measured for lyso-Gb3 and its analogs ranged from 0.06 to 0.29 nM. © 2016 by John Wiley & Sons, Inc. PMID:27367163

  19. Cardiac device implantation in Fabry disease

    PubMed Central

    Sené, Thomas; Lidove, Olivier; Sebbah, Joel; Darondel, Jean-Marc; Picard, Hervé; Aaron, Laurent; Fain, Olivier; Zenone, Thierry; Joly, Dominique; Charron, Philippe; Ziza, Jean-Marc

    2016-01-01

    Abstract The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD. Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P < 0.05). Considering the high frequency of ACAs requiring CD implantation and the risk of sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype

  20. Increased Arterial Diameters in the Posterior Cerebral Circulation in Men with Fabry Disease

    PubMed Central

    Üçeyler, Nurcan; Homola, György A.; Guerrero González, Hans; Kramer, Daniela; Wanner, Christoph; Weidemann, Frank; Solymosi, László; Sommer, Claudia

    2014-01-01

    A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk. We studied a large cohort of patients with Fabry disease to differentially investigate white matter lesion load and cerebral artery diameters. We retrospectively analyzed cranial magnetic resonance imaging scans of 87 consecutive Fabry patients, 20 patients with ischemic stroke, and 36 controls. We determined the white matter lesion load applying the Fazekas score on fluid-attenuated inversion recovery sequences and measured the diameters of cerebral arteries on 3D-reconstructions of the time-of-flight-MR-angiography scans. Data of different Fabry patient subgroups (males – females; normal – impaired renal function) were compared with data of patients with stroke and controls. A history of stroke or transient ischemic attacks was present in 4/30 males (13%) and 5/57 (9%) females with Fabry disease, all in the anterior circulation. Only one man with Fabry disease showed confluent cerebral white matter lesions in the Fazekas score assessment (1%). Male Fabry patients had a larger basilar artery (p<0.01) and posterior cerebral artery diameter (p<0.05) compared to male controls. This was independent of disease severity as measured by renal function and did not lead to changes in arterial blood flow properties. A basilar artery diameter of >3.2 mm distinguished between men with Fabry disease and controls (sensitivity: 87%, specificity: 86%, p<0.001), but not from stroke patients. Enlarged arterial diameters of the posterior circulation are present only in men with Fabry disease independent of disease severity. PMID:24475221

  1. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.

    PubMed

    Uçeyler, Nurcan; Homola, György A; Guerrero González, Hans; Kramer, Daniela; Wanner, Christoph; Weidemann, Frank; Solymosi, László; Sommer, Claudia

    2014-01-01

    A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk. We studied a large cohort of patients with Fabry disease to differentially investigate white matter lesion load and cerebral artery diameters. We retrospectively analyzed cranial magnetic resonance imaging scans of 87 consecutive Fabry patients, 20 patients with ischemic stroke, and 36 controls. We determined the white matter lesion load applying the Fazekas score on fluid-attenuated inversion recovery sequences and measured the diameters of cerebral arteries on 3D-reconstructions of the time-of-flight-MR-angiography scans. Data of different Fabry patient subgroups (males-females; normal-impaired renal function) were compared with data of patients with stroke and controls. A history of stroke or transient ischemic attacks was present in 4/30 males (13%) and 5/57 (9%) females with Fabry disease, all in the anterior circulation. Only one man with Fabry disease showed confluent cerebral white matter lesions in the Fazekas score assessment (1%). Male Fabry patients had a larger basilar artery (p<0.01) and posterior cerebral artery diameter (p<0.05) compared to male controls. This was independent of disease severity as measured by renal function and did not lead to changes in arterial blood flow properties. A basilar artery diameter of >3.2 mm distinguished between men with Fabry disease and controls (sensitivity: 87%, specificity: 86%, p<0.001), but not from stroke patients. Enlarged arterial diameters of the posterior circulation are present only in men with Fabry disease independent of disease severity.

  2. Fabry's Disease: Case Series and Review of Literature

    PubMed Central

    Wani, Muzaffar Maqsood; Khan, Imran; Bhat, Riyaz Ahmad; Ahmad, Muzaffar

    2016-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10–15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here. PMID:27398254

  3. Fabry's Disease: Case Series and Review of Literature.

    PubMed

    Wani, Muzaffar Maqsood; Khan, Imran; Bhat, Riyaz Ahmad; Ahmad, Muzaffar

    2016-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10-15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here. PMID:27398254

  4. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

    PubMed

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-10-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients. PMID:27679722

  5. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

    PubMed Central

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-01-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R2 = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients. PMID:27679722

  6. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

    PubMed

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-10-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.

  7. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

    PubMed Central

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-01-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R2 = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.

  8. The management and treatment of children with Fabry disease: A United States-based perspective.

    PubMed

    Hopkin, Robert J; Jefferies, John L; Laney, Dawn A; Lawson, Victoria H; Mauer, Michael; Taylor, Matthew R; Wilcox, William R

    2016-02-01

    Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease. The presence of symptoms in boys and girls of any age is an indication to begin therapy. Early treatment before the onset of potentially irreversible vital organ pathology is ideal. Asymptomatic children with Fabry mutations should be followed closely for the development of renal, cardiac, neurological, or gastrointestinal signs, symptoms, or laboratory changes, which would warrant treatment initiation. A comprehensive care plan should be implemented by the treating physicians to guide the management of children with Fabry disease. PMID:26546059

  9. Fabry's disease: An ultrastructural study of nerve biopsy

    PubMed Central

    Gayathri, N.; Yasha, T. C.; Kanjalkar, Makarand; Agarwal, Santosh; Sagar, B. K. Chandrashekar; Santosh, Vani; Shankar, S. K.

    2008-01-01

    Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease. PMID:19893666

  10. Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

    PubMed

    von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim

    2016-10-01

    Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women's experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one's heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors' acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than "just carriers." The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment. PMID:26948256

  11. Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

    PubMed

    von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim

    2016-10-01

    Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women's experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one's heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors' acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than "just carriers." The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment.

  12. [Foam cell nephropathy in heterozygous female with Fabry's disease].

    PubMed

    Vera-Sempere, F J; García, A; Sánchez, M A; Moll, J L; Pérez, A

    2002-01-01

    We describe the clinical and pathological characteristics of a 49 year-old heterozygous female carrier of Anderson-Fabry's disease. Light microscopy and ultrastructural study of a renal biopsy showed the presence of foam cell nephropathy and galactosylceramide deposits affecting podocytes, the parietal epithelium of Bowman's capsule and the distal tubular cells, endothelial cells and medullary interstitial elements. Retrospectively, the presence of storage disease was confirmed in a hysterectomy specimen obtained two years previously. Our observation shows that heterozygotes for this disorder can not only carry and transmit the disease but may also develop pathological deposits in various organs. A renal biopsy from these carriers allows precise identification of the disease, facilitates adequate genetic counseling and gives the option of enzyme replacement therapy in patients who have pathological deposits.

  13. Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

    PubMed

    Simoncini, C; Chico, L; Concolino, D; Sestito, S; Fancellu, L; Boadu, W; Sechi, G P; Feliciani, C; Gnarra, M; Zampetti, A; Salviati, A; Scarpelli, M; Orsucci, D; Bonuccelli, U; Siciliano, G; Mancuso, M

    2016-08-26

    While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of FD, we have genotyped European mtDNA haplogroups in 77 Italian FD patients and 151 healthy controls. Haplogroups H and I, and haplogroup cluster HV were significantly more frequent in patients than controls. However, no correlation with gender, age of onset, organ involvement was observed. Our study seems to provide some evidence of a contribution of mitochondrial variation in FD pathogenesis, at least in Italy. PMID:27365132

  14. Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

    PubMed

    Byeon, Seul Kee; Kim, Jin Yong; Lee, Jin-Sung; Moon, Myeong Hee

    2016-03-01

    A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48% for plasma and 42% for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15% for plasma and 13% for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids. PMID:26873218

  15. Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

    PubMed

    Byeon, Seul Kee; Kim, Jin Yong; Lee, Jin-Sung; Moon, Myeong Hee

    2016-03-01

    A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48% for plasma and 42% for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15% for plasma and 13% for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids.

  16. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

    PubMed Central

    Ferreira, Susana; Ortiz, Alberto; Germain, Dominique P.; Viana-Baptista, Miguel; Gomes, António Caldeira; Camprecios, Marta; Fenollar-Cortés, Maria; Gallegos-Villalobos, Ángel; Garcia, Diego; García-Robles, José Antonio; Egido, Jesús; Gutiérrez-Rivas, Eduardo; Herrero, José Antonio; Mas, Sebastián; Oancea, Raluca; Péres, Paloma; Salazar-Martín, Luis Manuel; Solera-Garcia, Jesús; Alves, Helena; Garman, Scott C.; Oliveira, João Paulo

    2015-01-01

    Summary Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue – GLA p.(Arg118Cys) –, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands’ close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease, since the allelic frequency in stroke patients was 0.0087 (p=0.0185 vs the general population). The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for “rare” condition. PMID:25468652

  17. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis

    PubMed Central

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-01-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  18. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

    PubMed

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-07-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  19. Fabry disease, respiratory symptoms, and airway limitation – a systematic review

    PubMed Central

    Svensson, Camilla Kara; Feldt-Rasmussen, Ulla; Backer, Vibeke

    2015-01-01

    Background Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs. Materials and method A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, this number was reduced to 135; 53 papers did not concern Fabry disease, 19 were either animal studies or gene therapy studies, and 36 papers did not have lung involvement in Fabry disease as a topic. The remaining 27 articles were relevant for this review. Results The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory examinations are seldom performed. Pulmonary function tests primarily show obstructive airway limitation, but a few articles also report of patients with restrictive limitation and a mixture of both. No significant association has been found between smoking and the development of symptoms or spirometry abnormalities in patients with Fabry disease. Electron microscopy of lung biopsy and induced sputum show lamellar inclusion bodies (Zebra bodies) in the cytoplasm of cells in the airway wall. X-ray and CT scan have shown patchy ground-glass pulmonary infiltrations, fibrosis, and air trapping. Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry. Conclusion Consistent findings have not been shown in the current literature. Pulmonary function tests and registration of symptoms showed various results; however, there is a trend towards obstructive airway limitation in patients with Fabry disease. Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment. PMID:26557248

  20. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.

    PubMed

    Beck, Michael; Hughes, Derralynn; Kampmann, Christoph; Larroque, Sylvain; Mehta, Atul; Pintos-Morell, Guillem; Ramaswami, Uma; West, Michael; Wijatyk, Anna; Giugliani, Roberto

    2015-06-01

    Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were the annualized rate of change in estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) as well as time to and ages at a composite morbidity endpoint and at death. FOS data were extracted for 740 treated patients who were followed for a median of ~ 5 years. Compared with no treatment, patients treated with agalsidase alfa demonstrated slower decline in renal function and slower progression of left ventricular hypertrophy. Treated male patients with baseline eGFR < 60 mL/min/1.73 m(2) had a mean (standard error of the mean [SEM]) annualized change in eGFR of - 2.86 (0.53) mL/min/1.73 m(2)/y compared with - 6.8 (1.5) in the published untreated cohort. The mean (SEM) rate of LVMI increase with treatment was 0.33 (0.10) g/m(2.7)/y in males and 0.48 (0.09) in females, compared with 4.07 (1.03) in untreated males and 2.31 (0.81) in untreated females. Morbidity occurred later in treated patients, with ~ 16% risk of a composite morbidity event (26% in males) after 24 months with ERT versus ~ 45% without treatment, with first events and deaths also occurring at older ages in patients administered ERT (e.g., estimated median survival in treated males was 77.5 years versus 60 years in untreated males). Findings from these retrospective comparisons of observational data and published literature support the long-term benefits of ERT with agalsidase alfa for Fabry disease in slowing the progression of renal impairment and cardiomyopathy. Treatment also appeared to delay the onset of morbidity and mortality. Interpretation of these findings should take

  1. Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

    PubMed

    Biancini, Giovana Brondani; Jacques, Carlos Eduardo; Hammerschmidt, Tatiane; de Souza, Heryk Motta; Donida, Bruna; Deon, Marion; Vairo, Filippo Pinto; Lourenço, Charles Marques; Giugliani, Roberto; Vargas, Carmen Regla

    2016-10-01

    Fabry disease (FD) is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Its substrates, mainly globotriaosylceramide (Gb3), accumulate and seem to induce other pathophysiological findings of FD. Once enzyme replacement therapy (ERT) is not completely efficient on preventing disease progress in FD patients, elucidating the underlying mechanisms in FD pathophysiology is essential to the development of additional therapeutic strategies. We investigated 58 Fabry patients (23 male and 35 female) subdivided into two groups (at diagnosis and during long-term ERT) and compared them to healthy individuals. Fabry patients at diagnosis presented altered glutathione (GSH) metabolism (higher GSH levels, lower glutathione peroxidase - GPx - and normal glutathione reductase - GR - activities), higher lipid peroxidation levels (thiobarbituric acid reactive species - TBARS - and malondialdehyde - MDA), nitric oxide (NO(.)) equivalents and urinary Gb3. Fabry patients on ERT presented GSH metabolism similar to controls, although lipid peroxidation and urinary levels of NO(.) equivalents remained higher whereas Gb3 levels were lower than at diagnosis but still higher than controls. These data demonstrated that redox impairment occurs in Fabry patients before and after ERT, probably as a consequence of Gb3 accumulation, providing targets to future therapy approaches using antioxidants in combination with ERT in FD. PMID:27458128

  2. Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

    PubMed

    Biancini, Giovana Brondani; Jacques, Carlos Eduardo; Hammerschmidt, Tatiane; de Souza, Heryk Motta; Donida, Bruna; Deon, Marion; Vairo, Filippo Pinto; Lourenço, Charles Marques; Giugliani, Roberto; Vargas, Carmen Regla

    2016-10-01

    Fabry disease (FD) is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Its substrates, mainly globotriaosylceramide (Gb3), accumulate and seem to induce other pathophysiological findings of FD. Once enzyme replacement therapy (ERT) is not completely efficient on preventing disease progress in FD patients, elucidating the underlying mechanisms in FD pathophysiology is essential to the development of additional therapeutic strategies. We investigated 58 Fabry patients (23 male and 35 female) subdivided into two groups (at diagnosis and during long-term ERT) and compared them to healthy individuals. Fabry patients at diagnosis presented altered glutathione (GSH) metabolism (higher GSH levels, lower glutathione peroxidase - GPx - and normal glutathione reductase - GR - activities), higher lipid peroxidation levels (thiobarbituric acid reactive species - TBARS - and malondialdehyde - MDA), nitric oxide (NO(.)) equivalents and urinary Gb3. Fabry patients on ERT presented GSH metabolism similar to controls, although lipid peroxidation and urinary levels of NO(.) equivalents remained higher whereas Gb3 levels were lower than at diagnosis but still higher than controls. These data demonstrated that redox impairment occurs in Fabry patients before and after ERT, probably as a consequence of Gb3 accumulation, providing targets to future therapy approaches using antioxidants in combination with ERT in FD.

  3. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

    PubMed Central

    Ozelsancak, Ruya; Uyar, Bulent

    2016-01-01

    Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: Acropareshesia • fatique Medication: — Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme α-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband’s mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease. PMID:27156739

  4. DNA damage in Fabry patients: An investigation of oxidative damage and repair.

    PubMed

    Biancini, Giovana Brondani; Moura, Dinara Jaqueline; Manini, Paula Regina; Faverzani, Jéssica Lamberty; Netto, Cristina Brinckmann Oliveira; Deon, Marion; Giugliani, Roberto; Saffi, Jenifer; Vargas, Carmen Regla

    2015-06-01

    Fabry disease (FD) is a lysosomal storage disorder associated with loss of activity of the enzyme α-galactosidase A. In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD pathophysiology, such as inflammation and oxidative stress. Higher levels of oxidative damage to proteins and lipids in Fabry patients were previously reported. However, DNA damage by oxidative species in FD has not yet been studied. We investigated basal DNA damage, oxidative DNA damage, DNA repair capacity, and reactive species generation in Fabry patients and controls. To measure oxidative damage to purines and pyrimidines, the alkaline version of the comet assay was used with two endonucleases, formamidopyrimidine DNA-glycosylase (FPG) and endonuclease III (EndoIII). To evaluate DNA repair, a challenge assay with hydrogen peroxide was performed. Patients presented significantly higher levels of basal DNA damage and oxidative damage to purines. Oxidative DNA damage was induced in both DNA bases by H2O2 in patients. Fabry patients presented efficient DNA repair in both assays (with and without endonucleases) as well as significantly higher levels of oxidative species (measured by dichlorofluorescein content). Even if DNA repair be induced in Fabry patients (as a consequence of continuous exposure to oxidative species), the repair is not sufficient to reduce DNA damage to control levels. PMID:26046974

  5. Atypical patterns of cardiac involvement in Fabry disease.

    PubMed

    Coughlan, J J; Elkholy, K; O'Brien, J; Kiernan, T

    2016-01-01

    A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994. ECG showed sinus rhythm, shortened PR interval, widespread t wave inversion, q waves in the lateral leads and left ventricular hypertrophy (LVH). Coronary angiogram showed only mild atheroma. Transthoracic echocardiogram showed anterolateral LVH and reduced left ventricular cavity size in keeping with Fabry cardiomyopathy. Cardiac MRI demonstrated asymmetric hypertrophy with evidence of diffuse myocardial fibrosis in the maximally hypertrophied segments from base to apex with late gadolinium enhancement in the anterior and anteroseptal walls. This was quite an atypical appearance for Fabry cardiomyopathy. This case highlights the heterogeneity of patterns of cardiac involvement that may be associated with this rare X-linked lysosomal disorder. PMID:26989114

  6. Light- and electron-microscopic histochemistry of Fabry's disease.

    PubMed Central

    Faraggiana, T.; Churg, J.; Grishman, E.; Strauss, L.; Prado, A.; Bishop, D. F.; Schuchman, E.; Desnick, R. J.

    1981-01-01

    A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and staining techniques for lipids and carbohydrates. Two peroxidase-labeled lectins (from Ricinus communis and from Bandeiraea simplicifolia) known to have affinity for alpha- and beta-D-galactose, were strongly reactive with the storage material on frozen sections. The ultrahistochemical and extraction tests showed that the typical granules had a variable reactivity and morphologic characteristics in different cells, probably reflecting different composition. A small number of typical deposits were also observed in the transplanted kidney. This is the first reported case of recurrence of the storage disease in the allograft. Of interest was also the fact that the patient's blood inhibited normal alpha-galactosidase activity, suggesting a possible inhibitor-related mechanism in the pathogenesis of the recurrence. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:6786101

  7. Enzyme enhancers for the treatment of Fabry and Pompe disease.

    PubMed

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-03-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies.

  8. Enzyme enhancers for the treatment of Fabry and Pompe disease.

    PubMed

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-03-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies. PMID:25409744

  9. [Gaucher's and Fabry's diseases: biochemical and genetic aspects].

    PubMed

    Caillaud, Catherine; Poenaru, Livia

    2002-01-01

    Gaucher and Fabry's diseases are lysosomal storage disorders. They are due to glucocerebrosidase or alpha galactosidase deficiency, respectively. Gaucher disease, transmitted as an autosomal recessive trait, is frequent among Ashkenazi Jews. Cloning of the gene has allowed the characterization of few common mutations. Some of them have a prognosis value, in favour of either a non neurological form (type 1) or more severe forms (types 2 and 3). There mutations were found in 70% of the alleles, the other alleles carrying private mutations. Fabry disease is transmitted as an X-linked recessive trait. Genetic counselling in at-risk families relies on the detection of carrier females. As the alpha galactosidase gene shows various mutations, the establishment of phenotype-genotype correlations is limited. These two diseases, well defined at the biochemical and genetic level, are good models of inherited diseases for the development of specific therapies.

  10. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

    NASA Astrophysics Data System (ADS)

    Alharbi, Fahad J.; Geberhiwot, Tarekegn; Hughes, Derralynn A.; Ward, Douglas G.

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish.

  11. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model

    PubMed Central

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(−/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(−/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(−/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(−/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(−/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(−/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  12. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.

    PubMed

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco; Caprini, Marco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(-/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(-/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(-/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(-/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(-/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(-/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  13. MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers

    NASA Astrophysics Data System (ADS)

    Touboul, David; Roy, Sandrine; Germain, Dominique P.; Chaminade, Pierre; Brunelle, Alain; Laprevote, Olivier

    2007-02-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism, in which a partial or total deficiency of [alpha]-galactosidase A, a lysosomal enzyme, results in the progressive accumulation of neutral glycosphingolipids (globotriaosylceramide and digalactosylceramide) in most fluids and tissues of the body. Few information is available about the composition and distribution in tissues of the accumulated glycosphingolipids species. Mass spectrometry imaging is an innovative technique, which can provide pieces of information about the distribution of numerous biological compounds, such as lipids, directly on the tissue sections. MALDI-TOF and cluster-TOF-SIMS imaging approaches were used to study the localization of lipids (cholesterol, cholesterol sulfate, vitamin E, glycosphingolipids ...) on skin and kidney sections of patients affected by the Fabry disease. Numerous information on pathophysiology were enlightened by both techniques.

  14. Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

    NASA Astrophysics Data System (ADS)

    Boutin, Michel; Auray-Blais, Christiane

    2015-03-01

    Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

  15. [Treatment of Fabry disease: Successes, failures, and expectations].

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Joly, Dominique

    2016-04-01

    Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors. PMID:26968478

  16. [Treatment of Fabry disease: Successes, failures, and expectations].

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Joly, Dominique

    2016-04-01

    Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors.

  17. Fabry's disease as a differential diagnosis of MS.

    PubMed

    Callegaro, D; Kaimen-Maciel, D R

    2006-01-01

    Fabry's disease is a genetically inherited error of glycosphingolipid metabolism that results from the defective activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA). The enzymatic defect, caused by an X-linked recessive genes, leads to progressive deposition of neutral glycosphingolipids (predominantly globotriaosylceramide), with terminal alpha-galactosyl moieties, in most visceral tissues and fluids of the body. Cerebrovascular manifestations result from multifocal small-vessel involvement and may include thromboses, basilar arterial ischaemia and aneurysm, seizures, paroxystic hemiplegia or hemianaesthesia, vestibular disorders and frank cerebral haemorrhage. Severe neurological signs may be present without evidence of major thrombosis and are presumably due to multifocal small-vessel occlusive disease. Vascular ischaemia and lipid deposition in peripheral nerves may cause conduction abnormalities (slowed conduction velocities and distal latency). Sensory neurons in spinal ganglia and small myelinated and unmyelinated fibers are affected preferentially. PMID:16420782

  18. Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

    PubMed

    Arends, Maarten; Linthorst, Gabor E; Hollak, Carla E; Biegstraaten, Marieke

    2016-02-01

    Fabry disease (FD) is a progressive, multi-organ, lysosomal storage disease. Enzyme replacement therapy (ERT) is available for the treatment of the disease. While the reasons to initiate ERT have been frequently discussed, discontinuation of ERT is rarely reported. In this paper we describe our experiences with stopping ERT in FD. From 1999 through 2015, twenty-one patients discontinued ERT. These patients were generally older and more severely affected in comparison those who continued ERT. The reason to discontinue ERT switched from death or terminal illness in the first years towards treatment failure in more recent years. Three cases are described in more detail. We conclude that discontinuation of ERT should or may be considered in subgroups of FD patients although further studies on the effectiveness of ERT in subgroups of patients and the course of the disease after discontinuation of ERT are needed. PMID:26654842

  19. Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

    PubMed

    Wakakuri, Hiroaki; Nakamura, Shunichi; Utsumi, Kouichi; Shimizu, Wataru; Yasutake, Masahiro

    2016-09-28

    Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes. PMID:27593536

  20. Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

    PubMed

    Wakakuri, Hiroaki; Nakamura, Shunichi; Utsumi, Kouichi; Shimizu, Wataru; Yasutake, Masahiro

    2016-09-28

    Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes.

  1. Nature and frequency of mutations in the [alpha]-galactosidase A gene that cause Fabry disease

    SciTech Connect

    Eng, C.M.; Resnick-Silverman, L.A.; Niehaus, D.J.; Astrin, K.H.; Desnick, R.J. )

    1993-12-01

    To determine the nature and frequency of the molecular lesions causing the classical and milder-variant Fabry phenotypes, and for precise carrier detection in Fabry families, the [alpha]-Gal A transcripts or genomic sequences from unrelated Fabry hemizygotes were analyzed. In patients with the classical phenotype, 18 new mutations were identified: N34S, C56G, W162R, R227Q, R227X, D264V, D266V, S297F, D313Y, G328A, W340X, E398X, IVS2+2, IVS5[delta]-2,3, 773[delta]2, 954[delta]5, 1016[delta]11, and 1123[delta]53. Unrelated asymptomatic or mildly affected patients with symptoms confined to the heart had a missense mutation, N215S, that expressed residual enzymatic activity. Related, moderately affected patients with late-onset cardiac and pulmonary manifestations had a small deletion, 1208[delta]3, that predicted the in-frame deletion of arginine 404 near the terminus of the 429 residue enzyme polypeptide. In addition, five small gene rearrangements involving exonic sequences were identified in unrelated classically affected patients. Two small deletions and one small duplication had short direct repeats at their respective breakpoint junctions and presumably resulted from slipped mispairing. A deletion occurred at a potential polymerase [alpha] arrest site, while the breakpoints of another deletion occurred at an inverted tetranucleotide repeat. Screening of unrelated Fabry patients with allele-specific oligonucleotides for seven mutations revealed that these were private, with the notable exception of N215S, R227Q, and R227X, which were each found in several unrelated families from different ethnic backgrounds. The CpG dinucleotide at codon 227 was the most common site of mutation, having been altered in 5% of the 148 unrelated Fabry alleles. These studies revealed that most [alpha]-Gal A lesions were private, that codon 227 was a mutational hot spot, and that certain mutations predicted a milder disease phenotype. 40 refs., 8 figs., 3 tabs.

  2. [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome].

    PubMed

    Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek

    2002-11-01

    A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.

  3. Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

    PubMed Central

    Biko, Lydia; Hose, Dorothea; Hofmann, Lukas; Sommer, Claudia

    2016-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease. We systematically assessed sensory system, physical activity, metabolic parameters, and morphology of male and female mice with alpha-galactosidase A deficiency (Fabry ko) from 2 to 27 months of age and compared results with those of age- and gender-matched wild-type littermates of C57Bl/6J background. Results From the age of two months, male and female Fabry mice showed mechanical hypersensitivity (p < 0.001 each) compared to wild-type littermates. Young Fabry ko mice of both genders were hypersensitive to heat stimulation (p < 0.01) and developed heat hyposensitivity with aging (p < 0.05), while cold hyposensitivity was present constantly in young (p < 0.01) and old (p < 0.05) Fabry ko mice compared to wild-type littermates. Stride angle increased only in male Fabry ko mice with aging (p < 0.01) in comparison to wild-type littermates. Except for young female mice, male (p < 0.05) and female (p < 0.01) Fabry ko mice had a higher body weight than wild-type littermates. Old male Fabry ko mice were physically less active than their wild-type littermates (p < 0.05), had lower chow intake (p < 0.001), and lost more weight (p < 0.001) in a one-week treadmill experiment than wild-type littermates. Also, Fabry ko mice showed spontaneous pain protective behavior and developed orofacial dysmorphism resembling patients with Fabry disease. Conclusions Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system. alpha-galactosidase A-deficient mice seem to model human Fabry disease and may be helpful when studying the pathophysiology of Fabry-associated pain. PMID:27145802

  4. High Variability of Fabry Disease Manifestations in an Extended Italian Family

    PubMed Central

    Cammarata, Giuseppe; Fatuzzo, Pasquale; Rodolico, Margherita Stefania; Colomba, Paolo; Sicurella, Luigi; Iemolo, Francesco; Zizzo, Carmela; Bartolotta, Caterina; Duro, Giovanni

    2015-01-01

    Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease. PMID:25977923

  5. Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

    PubMed

    Riera, Casandra; Lois, Sergio; Domínguez, Carmen; Fernandez-Cadenas, Israel; Montaner, Joan; Rodríguez-Sureda, Victor; de la Cruz, Xavier

    2015-01-01

    Loss-of-function mutations of the enzyme alpha-galactosidase A (GLA) causes Fabry disease (FD), that is a rare and potentially fatal disease. Identification of these pathological mutations by sequencing is important because it allows an early treatment of the disease. However, before taking any treatment decision, if the mutation identified is unknown, we first need to establish if it is pathological or not. General bioinformatic tools (PolyPhen-2, SIFT, Condel, etc.) can be used for this purpose, but their performance is still limited. Here we present a new tool, specifically derived for the assessment of GLA mutations. We first compared mutations of this enzyme known to cause FD with neutral sequence variants, using several structure and sequence properties. Then, we used these properties to develop a family of prediction methods adapted to different quality requirements. Trained and tested on a set of known Fabry mutations, our methods have a performance (Matthews correlation: 0.56-0.72) comparable or better than that of the more complex method, Polyphen-2 (Matthews correlation: 0.61), and better than those of SIFT (Matthews correl.: 0.54) and Condel (Matthews correl.: 0.51). This result is validated in an independent set of 65 pathological mutations, for which our method displayed the best success rate (91.0%, 87.7%, and 73.8%, for our method, PolyPhen-2 and SIFT, respectively). These data confirmed that our specific approach can effectively contribute to the identification of pathological mutations in GLA, and therefore enhance the use of sequence information in the identification of undiagnosed Fabry patients. PMID:25382311

  6. Fabry's disease: an example of cardiorenal syndrome type 5.

    PubMed

    Sharma, Aashish; Sartori, Marco; Zaragoza, Jose J; Villa, Gianluca; Lu, Renhua; Faggiana, Elena; Brocca, Alessandra; Di Lullo, Luca; Feriozzi, Sandro; Ronco, Claudio

    2015-11-01

    Cardiorenal syndrome type 5 (CRS-5) includes conditions where there is a simultaneous involvement of the heart and kidney from a systemic disorder. This is a bilateral organ cross talk. Fabry's disease (FD) is a devastating progressive inborn error of metabolism with lysosomal glycosphingolipid deposition in variety of cell types, capillary endothelial cells, renal, cardiac and nerve cells. Basic effect is absent or deficient activity of lysosomal exoglycohydrolase a-galactosidase A. Renal involvement consists of proteinuria, isosthenuria, altered tubular function, presenting in second or third decade leading to azotemia and end-stage renal disease in third to fifth decade mainly due to irreversible changes to glomerular, tubular and vascular structures, especially highlighted by podocytes foot process effacement. Cardiac involvement consists of left ventricular hypertrophy, right ventricular hypertrophy, arrhythmias (sinus node and conduction system impairment), diastolic dysfunction, myocardial ischemia, infarction, transmural replacement fibrosis, congestive heart failure and cardiac death. Management of FD is based on enzymatic replacement therapy and control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors-and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statin to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias). PMID:26232292

  7. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

    PubMed Central

    2013-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear. Methods Renal, cardiac, and cerebral outcomes were prospectively studied in males and females with Fabry disease treated with ERT. Additionally, the occurrence of major cardiac events, stroke, end-stage renal disease and death was compared to a natural history (NH) cohort meeting treatment criteria. Results Of 75 patients on ERT (median treatment duration 5.2 years, range 0.05-11.0), prospective follow-up was available for 57 adult patients (30 males) and 6 adolescents. Renal function declined in males (-3.4 ml/min/1.73 m2 per year, SE 0.2; p < 0.001) despite ERT, but followed the normal course in females (-0.8 ml/min/1.73 m2 per year, SE 0.3; p = 0.001). Cardiac mass increased during ERT in males (+ 1.2 gram/m2.7, SE 0.3; p < 0.001), but remained stable in females (-0.3 gram/m2.7 per year, SE 0.4; p = 0.52). ERT did not prevent the occurrence of cerebral white matter lesions. Comparison of ERT treated to untreated patients revealed that the odds to develop a first complication increased with age (OR 1.05 (95% CI: 1.0-1.1) per year, p = 0.012). For development of a first or second complication the odds declined with longer treatment duration (OR 0.81 (95% CI: 0.68-0.96) per year of ERT, p = 0.015;OR 0.52 (0.31-0.88), p = 0.014 respectively). Conclusions Long term ERT does not prevent disease progression, but the risk of developing a first or second complication declines with increasing treatment duration. ERT in advanced Fabry disease seems of doubtful benefit. PMID:23531228

  8. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.

    PubMed

    Lemansky, P; Bishop, D F; Desnick, R J; Hasilik, A; von Figura, K

    1987-02-15

    The synthesis and processing of the human lysosomal enzyme alpha-galactosidase A was examined in normal and Fabry fibroblasts. In normal cells, alpha-galactosidase A was synthesized as an Mr = 50,500 precursor, which contained phosphate groups in oligosaccharide chains cleavable by endoglucosaminidase H. The precursor was processed via ill-defined intermediates to a mature Mr 46,000 form. Processing was complete within 3-7 days after synthesis. In the presence of NH4Cl and in I-cell fibroblasts, the majority of newly synthesized alpha-galactosidase A was secreted as an Mr = 52,000 form. For comparison, the processing and stability of alpha-galactosidase A were examined in fibroblasts from five unrelated patients with Fabry disease, which is caused by deficient alpha-galactosidase A activity. In one cell line, synthesis of immunologically cross-reacting polypeptides was not detectable. In another, the synthesis, processing, and stability of alpha-galactosidase A was indistinguishable from that in normal fibroblasts. In a third Fabry cell line, the mutation retarded the maturation of alpha-galactosidase A. Finally, in two cell lines, alpha-galactosidase A polypeptides were synthesized that were rapidly degraded following delivery to lysosomes. These results clearly indicate that Fabry disease comprises a heterogeneous group of mutations affecting synthesis, processing, and stability of alpha-galactosidase A. PMID:3029062

  9. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

    PubMed Central

    2011-01-01

    Background Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta leading to involuntary dose reductions (approved dose 1 mg/kg/eow, reduced dose 0.5 mg/kg/m), or switch to agalsidase alpha (administered dose 0.2 mg/kg/eow). An assessment report from the European Medicines Agency (EMA) raised serious concerns about an increase in adverse events at lower dosages of agalsidase beta. We determined the influence of the shortage on clinical event incidence and the most sensitive biochemical marker (lysoGb3) in Dutch Fabry patients. Methods The incidence of clinical events per person per year was calculated from start of agalsidase beta treatment until the shortage, and was compared to the incidence of clinical events during the shortage period. In addition, plasma lysoGb3, eGFR, quality of life (SF-36) and brief pain inventory (BPI) questionnaires were analysed. Results All thirty-five Dutch Fabry patients using agalsidase beta (17 males) were included. Mean clinical event incidence was unchanged: 0.15 events per person per year before versus 0.15 during the shortage (p = 0.68). In total 28 clinical events occurred in 14 patients during 4.6 treatment years, compared to 7 events in 6 patients during the 1.3 year shortage period. eGFR and BPI scores were not significantly altered. Two SF-36 subscales were significantly but minimally reduced in females. In males, lysoGb3 increased with a median of 8.1 nM (range 2.5 - 29.2) after 1 year of shortage (p = 0.001). Increases in lysoGb3 were found in both patients switching to agalsidase alpha and on a reduced agalsidase beta dose. Antibody status, treatment duration or clinical event incidence showed no clear correlation to lysoGb3 increases. Conclusions No increase in clinical event incidence was found in the adult Dutch Fabry cohort during the agalsidase beta shortage

  10. [Globosides as key players in the pathophysiology of Shiga toxin-associated acute kidney failure and Fabry disease].

    PubMed

    Porubsky, S

    2014-11-01

    Globosides and their isomeric counterparts isoglobosides belong to the class of neutral glycosphingolipids with an as yet undefined physiological function. In the pathogenesis of human diseases, globosides play an important role as cellular receptors for Shiga toxins which are produced by certain strains of S. dysenteriae and E. coli. In order to elucidate the pathogenesis of Shiga toxin-associated kidney failure, we studied human kidney biopsies and animal models. Our work showed that in patients suffering from Shiga toxin-elicited kidney failure, no complement activation could be demonstrated by immunohistochemical analysis of kidney biopsies. Therefore, complement activation is unlikely to play a major role in mediating thrombotic microangiopathy on exposure to Shiga toxin. Moreover, analysis of the human biopsies and of a murine model of Shiga toxin-associated disease pinpointed acute tubular damage as an important and previously neglected contributor to acute kidney failure in patients infected with Shiga toxin-producing E. coli. Furthermore, globosides play a decisive role in the pathogenesis of Fabry disease which results from a decreased or absent activity of the lysosomal enzyme α-galactosidase A. The results on transgenic mice showed that in vital organs, such as the heart, kidneys and liver, it was possible to revert the phenotype of Fabry disease by eliminating the synthesis of globosides. This implicates that substrate reduction therapy through inhibition of globosides might represent a new therapeutic option for Fabry disease, all the more so as globosides seem to be dispensable.

  11. Fabry in the older patient: Clinical consequences and possibilities for treatment.

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Niu, Dau-Ming; Brand, Eva; Nicholls, Kathleen; Bizjajeva, Svetlana; Hughes, Derralynn A

    2016-08-01

    Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life. Age groups were defined using age at treatment initiation or at FOS entry for untreated patients: 18-49 (n=1344; 49.5% male; 64.6% received agalsidase alfa enzyme replacement therapy [ERT]); 50-64 (n=537; 35.4% male; 74.3% treated); 65-74 (n=137; 32.1% male; 68.6% treated); and ≥75years (n=26; 26.9% male; 50.0% treated). Successive age groups showed higher median age at first symptom and diagnosis. Median alpha-galactosidase A activity, measured as percentage activity of the midpoint of the normal range, was much greater in females than males of all groups except ≥75years (33.4% in females; 27.8% in males). Patients aged ≥75years showed greater values than patients aged 18-49years for median left ventricular mass indexed to height (62.7 vs 42.4g/m(2.7)), mean ventricular wall thickness (15.0 vs 10.0mm) and prevalence of hypertension (57.7% vs 21.8%), and lower median estimated glomerular filtration rate (Modification of Diet in Renal Disease: 65.6 vs 98.5mL/min/1.73m(2)). Larger proportions in the groups aged ≥50 exhibited cardiac and/or cerebrovascular manifestations compared with patients aged 18-49years. The smaller proportion of patients receiving ERT aged ≥75years compared with the younger groups might reflect relatively milder disease burden or physician/patient reluctance to initiate/continue ERT at this age. Further studies are needed to increase knowledge of Fabry disease and ERT in later life. PMID:27221354

  12. Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.

    PubMed

    Lavoie, Pamela; Boutin, Michel; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to diagnose and monitor Fabry patients. However, recent metabolomic studies have shown that several glycosphingolipids are also elevated in biological fluids of affected patients and may be related to disease manifestations. This unit describes a multiplex methodology targeting the analysis of urinary lyso-Gb3 and seven structurally related analogs. A solid-phase extraction process is performed, then lyso-Gb3 and its analogs are analyzed simultaneously with an internal standard by ultra-performance liquid chromatography (UPLC) coupled to a tandem mass spectrometry (MS/MS) system. This methodology can be useful for the diagnosis of Fabry patients, including patients with cardiac variant mutations, but also to monitor the efficacy of therapeutic interventions, considering that lyso-Gb3 analogs are more elevated than lyso-Gb3 itself in urine. © 2016 by John Wiley & Sons, Inc.

  13. Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.

    PubMed

    Lavoie, Pamela; Boutin, Michel; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to diagnose and monitor Fabry patients. However, recent metabolomic studies have shown that several glycosphingolipids are also elevated in biological fluids of affected patients and may be related to disease manifestations. This unit describes a multiplex methodology targeting the analysis of urinary lyso-Gb3 and seven structurally related analogs. A solid-phase extraction process is performed, then lyso-Gb3 and its analogs are analyzed simultaneously with an internal standard by ultra-performance liquid chromatography (UPLC) coupled to a tandem mass spectrometry (MS/MS) system. This methodology can be useful for the diagnosis of Fabry patients, including patients with cardiac variant mutations, but also to monitor the efficacy of therapeutic interventions, considering that lyso-Gb3 analogs are more elevated than lyso-Gb3 itself in urine. © 2016 by John Wiley & Sons, Inc. PMID:27367162

  14. Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease.

    PubMed

    Chiba, Yasunori; Sakuraba, Hitoshi; Kotani, Masaharu; Kase, Ryoichi; Kobayashi, Kazuo; Takeuchi, Makoto; Ogasawara, Satoshi; Maruyama, Yutaka; Nakajima, Tasuku; Takaoka, Yuki; Jigami, Yoshifumi

    2002-12-01

    A mammalian-like sugar moiety was created in glycoprotein by Saccharomyces cerevisiae in combination with bacterial alpha-mannosidase to produce a more economic enzyme replacement therapy for patients with Fabry disease. We introduced the human alpha-galactosidase A (alpha-GalA) gene into an S. cerevisiae mutant that was deficient in the outer chains of N-linked mannan. The recombinant alpha-GalA contained both neutral (Man(8)GlcNAc(2)) and acidic ([Man-P](1-2)Man(8)GlcNAc(2)) sugar chains. Because an efficient incorporation of alpha-GalA into lysosomes of human cells requires mannose-6-phosphate (Man-6-P) residues that should be recognized by the specific receptor, we trimmed down the sugar chains of the alpha-GalA by a newly isolated bacterial alpha-mannosidase. Treatment of the alpha-GalA with the alpha-mannosidase resulted in the exposure of a Man-6-P residue on a nonreduced end of oligosaccharide chains after the removal of phosphodiester-linked nonreduced-end mannose. The treated alpha-GalA was efficiently incorporated into fibroblasts derived from patients with Fabry disease. The uptake was three to four times higher than that of the nontreated alpha-GalA and was inhibited by the addition of 5 mM Man-6-P. Incorporated alpha-GalA was targeted to the lysosome, and hydrolyzed ceramide trihexoside accumulated in the Fabry fibroblasts after 5 days. This method provides an effective and economic therapy for many lysosomal disorders, including Fabry disease.

  15. Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.

    PubMed

    Marchesan, D; Cox, T M; Deegan, P B

    2012-11-01

    The success of enzymatic replacement in Gaucher disease has stimulated development of targeted protein replacement for other lysosomal disorders, including Anderson-Fabry disease, which causes fatal cardiac, cerebrovascular and renal injury: deficiency of lysosomal α-Galactosidase A induces accumulation of glycosphingolipids. Endothelial cell storage was the primary endpoint in a clinical trial that led to market authorization. Two α-Galactosidase A preparations are licensed worldwide, but fatal outcomes persist, with storage remaining in many tissues. We compare mechanisms of uptake of α -Galactosidase A into cells relevant to Fabry disease, in order to investigate if the enzyme is targeted to the lysosomes in a mannose-6-phosphate receptor dependent fashion, as generally believed. α -Galactosidase A uptake was examined in fibroblasts, four different endothelial cell models, and hepatic cells in vitro. Uptake of europium-labeled human α -Galactosidase A was measured by time-resolved fluorescence. Ligand-specific uptake was quantified in inhibitor studies. Targeting to the lysosome was determined by precipitation and by confocal microscopy. The quantity and location of cation-independent mannose-6-phosphate receptors in the different cell models were investigated using confocal microscopy. Uptake and delivery of α -Galactosidase A to lysosomes in fibroblasts is mediated by the canonical mannose-6-phosphate receptor pathway, but in endothelial cells in vitro this mechanism does not operate. Moreover, this observation is supported by a striking paucity of expression of cation independent mannose-6-phosphate receptors on the plasma membrane of the four endothelial cell models and by little delivery of enzyme to lysosomes, when compared with fibroblasts. If these observations are confirmed in vivo, alternative mechanisms will be needed to explain the ready clearance of storage from endothelial cells in patients undergoing enzyme replacement therapy. PMID:22450713

  16. Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

    PubMed

    Nguyen Dinh Cat, Aurelie; Escoubet, Brigitte; Agrapart, Vincent; Griol-Charhbili, Violaine; Schoeb, Trenton; Feng, Wenguang; Jaimes, Edgar; Warnock, David G; Jaisser, Frederic

    2012-01-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose.

  17. Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.

    PubMed

    Lenders, Malte; Stypmann, Jörg; Duning, Thomas; Schmitz, Boris; Brand, Stefan-Martin; Brand, Eva

    2016-01-01

    Fabry disease (FD) is a progressive multisystemic disorder, treatable with recombinant enzyme replacement therapy (agalsidase). However, recent studies suggest an endogenous inhibition of agalsidase in patients with FD, as reported for other lysosomal storage diseases. To assess the clinical consequences of serum-mediated agalsidase inhibition in affected patients, we determined the agalsidase inhibition status of 168 patients (68 male) with FD and compared outcomes of inhibition-positive patients with those of inhibition-negative patients. The assessment included clinical events during time on agalsidase, determination of renal and cardiac function, and evaluation of FD-related symptoms. The frequency of serum-mediated agalsidase inhibition was 40% in agalsidase-treated males. Inhibition did not depend on the compound initially used (agalsidase-α or -β). Agalsidase inhibition was associated with higher lyso-globotriaosylceramide levels and worse disease severity scores in patients. Compared with agalsidase inhibition-negative men, agalsidase inhibition-positive men showed greater left ventricular mass (P=0.02) and substantially lower renal function (difference in eGFR of about -30 ml/min per 1.73 m(2); P=0.04), which was confirmed by a longitudinal 5-year retrospective analysis. Additionally, affected patients presented more often with FD-typical symptoms, such as diarrhea, fatigue, and neuropathic pain, among others. Therefore, patients with poor clinical outcome on agalsidase should be tested for agalsidase inhibition. Future studies are warranted to determine if affected patients with FD benefit from acute reduction of anti-agalsidase antibodies or long-term immune modulation therapies to suppress agalsidase inhibition and to identify mechanisms that minimize antibody generation against agalsidase.

  18. Fabry disease and Factor V Leiden: a potent vascular risk combination.

    PubMed

    Tchan, M; Sillence, D

    2011-05-01

    A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic diagnosis of Fabry disease. He then had an acute myocardial infarction whilst on aspirin and warfarin. PMID:21605293

  19. Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

    PubMed

    Kuipers, Remko; van den Bergh, Tom; Joosten, Henk-Jan; Lekanne dit Deprez, Ronald H; Mannens, Marcel Mam; Schaap, Peter J

    2010-09-01

    Genetic disorders are often caused by nonsynonymous nucleotide changes in one or more genes associated with the disease. Specific amino acid changes, however, can lead to large variability of phenotypic expression. For many genetic disorders this results in an increasing amount of publications describing phenotype-associated mutations in disorder-related genes. Keeping up with this stream of publications is essential for molecular diagnostics and translational research purposes but often impossible due to time constraints: there are simply too many articles to read. To help solve this problem, we have created Mutator, an automated method to extract mutations from full-text articles. Extracted mutations are crossreferenced to sequence data and a scoring method is applied to distinguish false-positives. To analyze stored and new mutation data for their (potential) effect we have developed Validator, a Web-based tool specifically designed for DNA diagnostics. Fabry disease, a monogenetic gene disorder of the GLA gene, was used as a test case. A structure-based sequence alignment of the alpha-amylase superfamily was used to validate results. We have compared our data with existing Fabry mutation data sets obtained from the HGMD and Swiss-Prot databases. Compared to these data sets, Mutator extracted 30% additional mutations from the literature.

  20. Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

    PubMed Central

    Serebrinsky, G.; Calvo, M.; Fernandez, S.; Saito, S.; Ohno, K.; Wallace, E.; Warnock, D.; Sakuraba, H.; Politei, J.

    2015-01-01

    Background Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The establishment of the pathogenic character of previously unknown or rare variants is challenging but necessary to guide therapeutic decisions. Objectives To present 2 cases of non-classical presentations of FD with renal involvement as well as to discuss the importance of high risk population screenings for FD. Results Our patients with non-classical variants were diagnosed through FD screenings in dialysis units. However, organ damage was not limited to kidneys, since LVH, vertebrobasilar dolichoectasia and cornea verticillata were also present. Lyso-Gb3 concentrations in plasma were in the pathologic range, compatible with late onset FD. Structural studies and in silico analysis of p.(Cys174Gly) and p.(Arg363His), employing different tools, suggest that enzyme destabilization and possibly aggregation could play a role in organ damage. Conclusions Screening programs for FD in high risk populations are important as FD is a treatable multisystemic disease which is frequently overlooked in patients who present without classical manifestations. PMID:26937405

  1. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

    PubMed

    Pan, Xiaoxia; Ouyang, Yan; Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  2. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

    PubMed Central

    Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  3. Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

    PubMed Central

    Kilarski, Laura L.; Rutten-Jacobs, Loes C. A.; Bevan, Steve; Baker, Rob; Hassan, Ahamad; Hughes, Derralynn A.; Markus, Hugh S.

    2015-01-01

    Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease (SVD). Fabry disease (FD) due to mutations in the GLA gene has been suggested as an underdiagnosed cause of stroke, and one feature is SVD. Previous studies reported varying prevalence of CADASIL and FD in stroke, likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset SVD. We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic patients with lacunar infarct. Methods Caucasian patients with lacunar infarction, aged ≤70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist stroke centres throughout the UK as part of the Young Lacunar Stroke DNA Resource. Patients with a previously confirmed monogenic cause of stroke were excluded. All MRI’s and clinical histories were reviewed centrally. Screening was performed for NOTCH3 and GLA mutations. Results Of 994 subjects five had pathogenic NOTCH3 mutations (R169C, R207C, R587C, C1222G and C323S) all resulting in loss or gain of a cysteine in the NOTCH3 protein. All five patients had confluent leukoaraiosis (Fazekas grade ≥2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1%) and among cases with confluent leukoaraiosis 1.5% (95% CI 0.6%-3.3%). No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD. Conclusion CADASIL cases are rare and only detected in SVD patients with confluent leukoaraiosis. No definite FD cases were detected. PMID:26305465

  4. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.

    PubMed

    Takao, Masaki; Mori, Taisuke; Orikasa, Hideki; Oh, Haengphil; Suzuki, Kinuko; Koto, Atsuo; Yamazaki, Kazuto

    2007-09-01

    A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.

  5. Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.

    PubMed

    Labilloy, Anatália; Youker, Robert T; Bruns, Jennifer R; Kukic, Ira; Kiselyov, Kirill; Halfter, Willi; Finegold, David; do Monte, Semiramis Jamil Hadad; Weisz, Ora A

    2014-02-01

    Accumulation of globotriaosylceramide (Gb3) and other neutral glycosphingolipids with galactosyl residues is the hallmark of Fabry disease, a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (α-gal A). These lipids are incorporated into the plasma membrane and intracellular membranes, with a preference for lipid rafts. Disruption of raft mediated cell processes is implicated in the pathogenesis of several human diseases, but little is known about the effects of the accumulation of glycosphingolipids on raft dynamics in the context of Fabry disease. Using siRNA technology, we have generated a polarized renal epithelial cell model of Fabry disease in Madin-Darby canine kidney cells. These cells present increased levels of Gb3 and enlarged lysosomes, and progressively accumulate zebra bodies. The polarized delivery of both raft-associated and raft-independent proteins was unaffected by α-gal A knockdown, suggesting that accumulation of Gb3 does not disrupt biosynthetic trafficking pathways. To assess the effect of α-gal A silencing on lipid raft dynamics, we employed number and brightness (N&B) analysis to measure the oligomeric status and mobility of the model glycosylphosphatidylinositol (GPI)-anchored protein GFP-GPI. We observed a significant increase in the oligomeric size of antibody-induced clusters of GFP-GPI at the plasma membrane of α-gal A silenced cells compared with control cells. Our results suggest that the interaction of GFP-GPI with lipid rafts may be altered in the presence of accumulated Gb3. The implications of our results with respect to the pathogenesis of Fabry disease are discussed.

  6. Development of a model system for neuronal dysfunction in Fabry disease.

    PubMed

    Kaneski, Christine R; Brady, Roscoe O; Hanover, John A; Schueler, Ulrike H

    2016-09-01

    Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks of this disorder is neuropathic pain and sympathetic and parasympathetic nervous dysfunction. The exact mechanism by which changes in AGA activity result in change in neuronal function is not clear, partly due to of a lack of relevant model systems. In this study, we report the development of an in vitro model system to study neuronal dysfunction in Fabry disease by using short-hairpin RNA to create a stable knock-down of AGA in the human cholinergic neuronal cell line, LA-N-2. We show that gene-silenced cells show specifically reduced AGA activity and store globotriaosylceramide. In gene-silenced cells, release of the neurotransmitter acetylcholine is significantly reduced, demonstrating that this model may be used to study specific neuronal functions such as neurotransmitter release in Fabry disease. PMID:27471012

  7. Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.

    PubMed

    Ko, Younhee; Lee, CheolHo; Moon, Myeong Hee; Hong, Geu-Ru; Cheon, Chong-Kun; Lee, Jin-Sung

    2016-02-01

    Fabry disease (FD) is a rare X-linked recessive glycosphingolipid-storage disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Intravenous enzyme replacement therapy (ERT) has been used to supplement deficient enzyme activity in patients with FD. Despite its clinical effect and manifestations, clear criteria for the clinical effectiveness and cost-effectiveness of ERT have not been well established. In this study, we investigated the pharmacodynamic actions and short-term effects of ERT in patients with FD through direct molecular profiling from blood samples of patients before and after ERT. Based on this comparison, we observed that immune/inflammation-related pathways and growth factor-related pathways such as innate/adaptive immune pathway, lymphocyte proliferation and leukocyte proliferation were actively regulated under ERT. We also found that TINAGL1, DAAM2, CDK5R1 and MYO5B known to be related with clinical symptoms of FD showed increased levels after ERT, leading to the amelioration of clinical manifestations. Especially the catabolic process-related genes, including USP15 and ERUN1, showed direct increasing after ERT in vivo in male patients. These results suggest that male patients with FD respond more actively to ERT than do female patients with FD. Pathway analysis revealed that oxidative phosphorylation pathway-related genes are downregulated under ERT. ERT has a role to protect the proteins from oxidative damage and such deactivation of oxidative phosphorylation is one of direct pharmacodynamic actions of ERT. These results extended our understanding of the pathophysiology of ERT. To our knowledge, this is the first study to observe the molecular basis for the mechanism of ERT in vivo through the comprehensive comparison of transcriptome study with next-generation sequencing data. PMID:26490183

  8. Infrared imaging microscopy of bone: Illustrations from a mouse model of Fabry disease

    PubMed Central

    Boskey, Adele L.; Goldberg, Michel; Kulkarni, Ashok; Gomez, Santiago

    2006-01-01

    Bone is a complex tissue whose composition and properties vary with age, sex, diet, tissue type, health and disease. In this review, we demonstrate how infrared spectroscopy and infrared spectroscopic imaging can be applied to the study of these variations. A specific example of mice with Fabry disease (a lipid storage disease) is presented in which it is demonstrated that the bones of these young animals, while showing typical spatial variation in mineral content, mineral crystal size, and collagen maturity, do not differ from the bones of age- and sex-matched wild type animals. PMID:16697974

  9. Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

    PubMed Central

    Giese, Anne Kathrin; Eichler, Sabrina; Sieweke, Nicole; Speth, Maria; Bauer, Timm; Hamm, Christian

    2016-01-01

    Objectives Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in discriminating FD patients with cardiac involvement in a large FD patient cohort. Methods cTnI levels were measured with a contemporary sensitive assay in plasma samples taken routinely from FD patients. The assay was calibrated to measure cTnI levels ≥0.01 ng/ml. Elevated cTnI values (cut-off ≥0.04 ng/ml) were correlated with clinical data. Results cTnI was assessed in 62 FD patients (median age: 47 years, males: 36%). Elevated cTnI levels were detected in 23 (37%) patients. Patients with a cTnI elevation were older (median 55 years versus 36 years, p<0.001). Elevated cTnI levels were associated with the presence of a LVH (16/23 versus 1/39; OR 65.81, CI: 6.747–641.859; p<0.001). In almost all patients with a left ventricular hypertrophy (LVH) elevated cTnI levels were detected (16/17, 94%). Absolute cTnI levels in patients with LVH were higher than in those without (median 0.23 ng/ml versus 0.02 ng/ml; p<0.001). A cTnI level <0.04ng/ml had a high negative predictive value regarding the presence of a LVH (38/39, 97%). In a control group of non-FD patients (n = 17) with LVH (due to hypertension) none showed cTnI levels ≥0.01 ng/ml. Conclusions Elevated cTnI levels are common in FD patients, reflecting cardiac involvement. FD patients might benefit from a continuous cTnI monitoring. PMID:27322070

  10. Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

    PubMed

    Mirzaian, Mina; Wisse, Patrick; Ferraz, Maria J; Marques, André R A; Gabriel, Tanit L; van Roomen, Cindy P A A; Ottenhoff, Roelof; van Eijk, Marco; Codée, Jeroen D C; van der Marel, Gijsbert A; Overkleeft, Herman S; Aerts, Johannes M

    2016-08-01

    We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal subjects and classically affected Fabry disease males revealed no significant difference. In conclusion, accurate quantification of S1P in biological materials is feasible by mass spectrometry using the internal standards (13)C5 C18-S1P or C17-S1P. Significant local increases of S1P in the kidney might occur in Fabry disease as suggested by the mouse model. PMID:27221202

  11. Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

    PubMed

    Odani, Keiko; Okumi, Masayoshi; Honda, Kazuho; Ishida, Hideki; Tanabe, Kazunari

    2016-07-01

    We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage renal disease. He underwent living-related kidney transplantation from his mother at age 40 years. Foam cells in the glomeruli were identified on histology assessment of a 0-hour allograft biopsy, with zebra bodies identified in the glomerular visceral epithelial cells by electron microscopy. These findings were indicative of Fabry disease in the donated kidney. As a definitive diagnosis of Fabry's disease could not be confirmed, enzyme replacement therapy was not initiated. Thirteen years after kidney transplantation, the patient underwent left nephrectomy for a left renal tumour, with pathological findings of clear cell carcinoma, foam cells and zebra bodies in the native kidney. Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease. Histology of several allograft biopsies performed over the 14 years from the time of kidney transplantation revealed only moderate interstitial fibrosis and tubular atrophy, with no evidence of disease progression on electron microscopy, despite the presence of zebra bodies in the glomerular visceral epithelial cells. PMID:26971403

  12. Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease

    PubMed Central

    Ashe, Karen M; Budman, Eva; Bangari, Dinesh S; Siegel, Craig S; Nietupski, Jennifer B; Wang, Bing; Desnick, Robert J; Scheule, Ronald K; Leonard, John P; Cheng, Seng H; Marshall, John

    2015-01-01

    Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosylceramide (GL-3) and lysoglobotriaosylceramide (globotriaosyl lysosphingolipid, lyso-GL-3), leading to kidney, heart, and cerebrovascular disease. To complement and potentially augment the current standard of care, biweekly infusions of recombinant α-Gal A, the merits of substrate reduction therapy (SRT) by selectively inhibiting glucosylceramide synthase (GCS) were examined. Here, we report the development of a novel, orally available GCS inhibitor (Genz-682452) with pharmacological and safety profiles that have potential for treating Fabry disease. Treating Fabry mice with Genz-682452 resulted in reduced tissue levels of GL-3 and lyso-GL-3 and a delayed loss of the thermal nociceptive response. Greatest improvements were realized when the therapeutic intervention was administered to younger mice before they developed overt pathology. Importantly, as the pharmacologic profiles of α-Gal A and Genz-682452 are different, treating animals with both drugs conferred the greatest efficacy. For example, because Genz-682452, but not α-Gal A, can traverse the blood–brain barrier, levels of accumulated glycosphingolipids were reduced in the brain of Genz-682452–treated but not α-Gal A–treated mice. These results suggest that combining substrate reduction and enzyme replacement may confer both complementary and additive therapeutic benefits in Fabry disease. PMID:25938659

  13. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

    PubMed

    Caudron, Eric; Prognon, Patrice; Germain, Dominique P

    2015-12-01

    Fabry disease (FD, OMIM#301500) is an X-linked lysosomal storage disorder caused by the functional deficiency of α-galactosidase A, a lysosomal enzyme. A method to screen for FD in large populations has been developed using a fluorometric assay of α-galactosidase A activity in dried blood spots (DBS) on filter paper. However, results can be influenced by quenching of fluorescence by haemoglobin which, together with small sample size, may result in a low light emission signal. An alternative, simple and sensitive fluorometric assay was developed for the determination of α-galactosidase A activity in DBS. The assay uses 4-methylumbelliferyl-α-d-galactose as an artificial substrate. To minimize the risk of false-positives, zinc sulfate was used for protein precipitation to stop the enzymatic reaction and eliminate interfering species (hemoglobin). Samples from 209 individuals (60 hemizygotes, 68 heterozygotes, and 81 controls) were tested to establish reference values for the assay. The mean α-galactosidase A activity of the 81 controls was 9.1 ± 3.3 μmol h(-1) L(-1) (mean ± SD). All 60 hemizygotes affected with FD had AGAL activities below 1.7 μmol h(-1) L(-1) (0.2 ± 0.3 μmol h(-1) L(-1)). For the 68 heterozygous females, AGAL activity ranged from 0 to 12.6 μmol h(-1) L(-1) (3.5 ± 2.7 μmol h(-1) L(-1)). Two-thirds of the female patients could be identified using the enzymatic assay and a cut-off level of 40% of the median control value (<3.4 μmol h(-1) L(-1)). Our fluorometric assay using zinc sulfate protein precipitation was shown to have similar sensitivity and robustness while reducing the risk of false positive results due to quenching of 4-MU fluorescence by haemoglobin. PMID:26520229

  14. [The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

    PubMed

    Mignani, Renzo; Gallieni, Maurizio; Feriozzi, Sandro; Pisani, Antonio; Marziliano, Nicola; Morrone, Amelia

    2015-01-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is a characterized by the involvement of several systems: renal, neurological, hearth, cochleovestibular and cutaneous systems are the most involved. Despite recent studies have provided new insights in the this disease, there are still lacks and discrepancies among all insiders regarding the diagnosis, clinical and therapeutic management. Enzyme replacement have been demonstrated to improve the course of the disease, especially when the diagnosis is early. There are still some debates on diagnosis and management of patients, in particular in the heterozygote female and the start of enzyme replacement. Thus, an Italian board, composed by nephrologists, cardiologists, genetics, pediatricians and neurologists has been established in order to approve through a consensus a diagnostic and therapeutic Italian management. Authors report the renal clinical and therapeutic management, a useful tool either for expert physicians or for those with a few experience in the diagnosis and management of this disease.

  15. [Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].

    PubMed

    Pieruzzi, Federico; Pieroni, Maurizio; Zachara, Elisabetta; Marziliano, Nicola; Morrone, Amelia; Cecchi, Franco

    2015-11-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged. Morbidity and mortality of Anderson-Fabry disease depend on renal insufficiency, heart failure and nervous system involvement. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Mild to moderate left ventricular hypertrophy may simulate a non-obstructive hypertrophic cardiomyopathy. Management of Anderson-Fabry disease starting from the diagnosis of cardiac involvement, the prevention of complications, the therapeutic aspects, up to appropriate clinical follow-up, requires a multidisciplinary approach. According to recent management guidelines, only few evidence-based data are available to guide the clinical and therapeutic approach to this rare disease. An Italian Board, composed by nephrologists, cardiologists, geneticists, pediatricians and neurologists has been established in order to approve by consensus a diagnostic and therapeutic management protocol. The authors report the results of this cardiologic management consensus. PMID:26571477

  16. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

    PubMed Central

    Warnock, David G.; Bichet, Daniel G.; Holida, Myrl; Goker-Alpan, Ozlem; Nicholls, Kathy; Thomas, Mark; Eyskens, Francois; Shankar, Suma; Adera, Mathews; Sitaraman, Sheela; Khanna, Richie; Flanagan, John J.; Wustman, Brandon A.; Barth, Jay; Barlow, Carrolee; Valenzano, Kenneth J.; Lockhart, David J.; Boudes, Pol; Johnson, Franklin K.

    2015-01-01

    Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved, biologics-based therapy for Fabry disease is enzyme replacement therapy (ERT) with either agalsidase alfa (Replagal) or agalsidase beta (Fabrazyme). Based on preclinical data, migalastat HCl in combination with agalsidase is expected to result in the pharmacokinetic (PK) enhancement of agalsidase in plasma by increasing the systemic exposure of active agalsidase, thereby leading to increased cellular levels in disease-relevant tissues. This Phase 2a study design consisted of an open-label, fixed-treatment sequence that evaluated the effects of single oral doses of 150 mg or 450 mg migalastat HCl on the PK and tissue levels of intravenously infused agalsidase (0.2, 0.5, or 1.0 mg/kg) in male Fabry patients. As expected, intravenous administration of agalsidase alone resulted in increased α-Gal A activity in plasma, skin, and peripheral blood mononuclear cells (PBMCs) compared to baseline. Following co-administration of migalastat HCl and agalsidase, α-Gal A activity in plasma was further significantly increased 1.2- to 5.1-fold compared to agalsidase administration alone, in 22 of 23 patients (95.6%). Importantly, similar increases in skin and PBMC α-Gal A activity were seen following co-administration of migalastat HCl and agalsidase. The effects were not related to the administered migalastat HCl dose, as the 150 mg dose of migalastat HCl increased α-Gal A activity to the same extent as the 450 mg dose. Conversely, agalsidase had no effect on the plasma PK of migalastat. No migalastat HCl-related adverse events or drug-related tolerability issues were identified. Trial Registration ClinicalTrials.gov NCT01196871 PMID:26252393

  17. Interconversion of the Specificities of Human Lysosomal Enzymes Associated with Fabry and Schindler Diseases

    SciTech Connect

    Tomasic, Ivan B.; Metcalf, Matthew C.; Guce, Abigail I.; Clark, Nathaniel E.; Garman, Scott C.

    2010-09-03

    The human lysosomal enzymes {alpha}-galactosidase ({alpha}-GAL, EC 3.2.1.22) and {alpha}-N-acetylgalactosaminidase ({alpha}-NAGAL, EC 3.2.1.49) share 46% amino acid sequence identity and have similar folds. The active sites of the two enzymes share 11 of 13 amino acids, differing only where they interact with the 2-position of the substrates. Using a rational protein engineering approach, we interconverted the enzymatic specificity of {alpha}-GAL and {alpha}-NAGAL. The engineered {alpha}-GAL (which we call {alpha}-GALSA) retains the antigenicity of {alpha}-GAL but has acquired the enzymatic specificity of {alpha}-NAGAL. Conversely, the engineered {alpha}-NAGAL (which we call {alpha}-NAGAL{sup EL}) retains the antigenicity of {alpha}-NAGAL but has acquired the enzymatic specificity of the {alpha}-GAL enzyme. Comparison of the crystal structures of the designed enzyme {alpha}-GAL{sup SA} to the wild-type enzymes shows that active sites of {alpha}-GAL{sup SA} and {alpha}-NAGAL superimpose well, indicating success of the rational design. The designed enzymes might be useful as non-immunogenic alternatives in enzyme replacement therapy for treatment of lysosomal storage disorders such as Fabry disease.

  18. Reduced Right Ventricular Native Myocardial T1 in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

    PubMed Central

    Pagano, Joseph J.; Chow, Kelvin; Khan, Aneal; Michelakis, Evangelos; Paterson, Ian; Oudit, Gavin Y.; Thompson, Richard B.

    2016-01-01

    Aims Anderson-Fabry disease (AFD) is characterized by progressive multiorgan accumulation of intracellular sphingolipids due to α-galactosidase A enzyme deficiency, resulting in progressive ventricular hypertrophy, heart failure, arrhythmias, and death. Decreased native (non-contrast) left ventricular (LV) T1 (longitudinal relaxation time) with MRI discriminates AFD from healthy controls or other presentations of concentric hypertrophy, but the right ventricle (RV) has not been studied. The aims of the current study were to evaluate native RV T1 values in AFD, with a goal of better understanding the pathophysiology of RV involvement. Methods and Results Native T1 values were measured in the inferior RV wall (RVI), interventricular septum (IVS), and inferior LV (LVI) in patients with AFD, patients with pulmonary hypertension, who provided an alternative RV pathological process for comparison, and healthy controls. A minimum wall thickness of 4 mm was selected to minimize partial volume errors in tissue T1 analysis. T1 analysis was performed in 6 subjects with AFD, 6 subjects with PH, and 21 controls. Native T1 values were shorter (adjusted p<0.05 for all comparisons), independent of location, in subjects with AFD (RVI-T1 = 1096±49 ms, IVS-T1 = 1053±41 ms, LVI-T1 = 1072±44 ms) compared to both PH (RVI-T1 = 1239±41 ms, IVS-T1 = 1280±123 ms, LVI-T1 = 1274±57 ms) and HC (IVS-T1 = 1180±60 ms, LVI-T1 = 1183±45 ms). RVI measurements were not possible in controls due to insufficient wall thickness. Conclusion Native T1 values appear similarly reduced in the left and right ventricles of individuals with AFD and RV wall thickening, suggesting a common pathology. In contrast, individuals with PH and thickened RVs showed increased native T1 values in both ventricles, suggestive of fibrosis. PMID:27305064

  19. Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease.

    PubMed

    Ziegler, Robin J; Li, Chester; Cherry, Maribeth; Zhu, Yunxiang; Hempel, Donna; van Rooijen, Nico; Ioannou, Yiannis A; Desnick, Robert J; Goldberg, Mark A; Yew, Nelson S; Cheng, Seng H

    2002-05-20

    Systemic administration of recombinant adenoviral vectors for gene therapy of chronic diseases such as Fabry disease can be limited by dose-dependent toxicity. Because administration of a high dose of Ad2/CMVHI-alpha gal encoding human alpha-galactosidase A results in expression of supraphysiological levels of the enzyme, we sought to determine whether lower doses would suffice to correct the enzyme deficiency and lysosomal storage abnormality observed in Fabry mice. Reducing the dose of Ad2/CMVHI-alpha gal by 10-fold (from 10(11) to 10(10) particles/mouse) resulted in a greater than 200-fold loss in transgene expression. In Fabry mice, the reduced expression of alpha-galactosidase A, using the lower dose of Ad2/CMVHI-alpha gal, was associated with less than optimal clearance of the accumulated glycosphingolipid (GL-3) from the affected lysosomes. It was determined that this lack of linearity in dose response was not due to an inability to deliver the recombinant viral vectors to the liver but rather to sequestration, at least in part, of the viral vectors by the Kupffer cells. This lack of correlation between dose and expression levels could be obviated by supplementing the low dose of Ad2/CMVHI-alpha gal with an unrelated adenoviral vector or by depleting the Kupffer cells before administration of Ad2/CMVHI-alpha gal. Prior removal of the Kupffer cells, using clodronate liposomes, facilitated the use of a 100-fold lower dose of Ad2/CMVHI-alpha gal (10(9) particles/mouse) to effect the nearly complete clearance of GL-3 from the affected organs of Fabry mice. These results suggest that practical strategies that minimize the interaction between the recombinant adenoviral vectors and the reticuloendothelial system (RES) may improve the therapeutic window of this vector system. In this regard, we showed that pretreatment of mice with gamma globulins also resulted in significantly enhanced adenovirus-mediated transduction and expression of alpha-galactosidase A in the

  20. Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

    PubMed Central

    den-Haan, Helena; Pérez-Sánchez, Horacio; Del Prete, Rosita; Liguori, Ludovica; Cimmaruta, Chiara; Lukas, Jan; Andreotti, Giuseppina

    2016-01-01

    Personalized therapies are required for Fabry disease due to its large phenotypic spectrum and numerous different genotypes. In principle, missense mutations that do not affect the active site could be rescued with pharmacological chaperones. At present pharmacological chaperones for Fabry disease bind the active site and couple a stabilizing effect, which is required, to an inhibitory effect, which is deleterious. By in silico docking we identified an allosteric hot-spot for ligand binding where a drug-like compound, 2,6-dithiopurine, binds preferentially. 2,6-dithiopurine stabilizes lysosomal alpha-galactosidase in vitro and rescues a mutant that is not responsive to a mono-therapy with previously described pharmacological chaperones, 1-deoxygalactonojirimycin and galactose in a cell based assay. PMID:27788225

  1. Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

    PubMed

    Sueoka, Hideaki; Aoki, Mikio; Tsukimura, Takahiro; Togawa, Tadayasu; Sakuraba, Hitoshi

    2015-01-01

    Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme. To gain insight into the pathogenesis of Fabry disease based on accumulated substrates, we examined the tissue and plasma distributions of globotriaosylceramide (Gb3) isoforms, and globotriaosylsphingosine (lyso-Gb3) and its analogues in a GLA knockout mouse, a model of Fabry disease, by means of liquid chromatography-mass spectrometry and nano-liquid chromatography-tandem mass spectrometry, respectively. The results revealed that the contents of these substrates in the liver, kidneys, heart, and plasma of GLA knockout mice were apparently higher than in those of wild-type ones, and organ specificity in the accumulation of Gb3 isoforms was found. Especially in the kidneys, accumulation of a large amount of Gb3 isoforms including hydroxylated residues was found. In the GLA knockout mice, the proportion of hydrophobic Gb3 isoforms was apparently higher than that in the wild-type mice. On the other hand, hydrophilic residues were abundant in plasma. Unlike that of Gb3, the concentration of lyso-Gb3 was high in the liver, and the lyso-Gb3/Gb3 ratio in plasma was significantly higher than those in the organs. The concentration of lyso-Gb3 was apparently higher than those of its analogues in the organs and plasma from both the GLA knockout and wild-type mice. This information will be useful for elucidating the basis of Fabry disease. PMID:26661087

  2. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.

    PubMed

    Putko, Brendan N; Wen, Kevin; Thompson, Richard B; Mullen, John; Shanks, Miriam; Yogasundaram, Haran; Sergi, Consolato; Oudit, Gavin Y

    2015-03-01

    Anderson-Fabry disease (AFD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a deficiency in the enzyme α-galactosidase A (α-Gal A). Anderson-Fabry cardiomyopathy is characterized by structural, valvular, vascular and conduction abnormalities, and is now the most common cause of mortality in patients with AFD. Large-scale metabolic and genetic screening studies have revealed AFD to be prevalent in populations of diverse ethnic origins, and the variant form of AFD represents an unrecognized health burden. Anderson-Fabry disease is an X-linked disorder, and genetic testing is critical for the diagnosis of AFD in women. Echocardiography with strain imaging and cardiac magnetic resonance imaging using late enhancement and T1 mapping are important imaging tools. The current therapy for AFD is enzyme replacement therapy (ERT), which can reverse or prevent AFD progression, while gene therapy and the use of molecular chaperones represent promising novel therapies for AFD. Anderson-Fabry cardiomyopathy is an important and potentially reversible cause of heart failure that involves LVH, increased susceptibility to arrhythmias and valvular regurgitation. Genetic testing and cardiac MRI are important diagnostic tools, and AFD cardiomyopathy is treatable if ERT is introduced early.

  3. A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.

    PubMed

    Hughes, D A; Deegan, P B; Milligan, A; Wright, N; Butler, L H; Jacobs, A; Mehta, A B

    2013-07-01

    Anecdotal reports suggest that the currently approved dosing interval of agalsidase alfa (0.2 mg/kg/2 weeks) for Fabry disease treatment is too long. This randomised, double-blind, placebo-controlled, crossover study investigated three altered dosing intervals. 18 Fabry patients received three agalsidase alfa dosing schedules, each for four weeks (A: 0.2 mg/kg∗2 weeks, B: 0.1 mg/kg/week, C: 0.2 mg/kg/week). Health state, pain levels, sweat volume and latency and plasma and urinary globotriaosylceramide levels were recorded throughout the study. No significant differences were found among the schedules for the primary efficacy outcome of self-assessed health state, or for pain scores. A trend toward increased sweat volume on QSART testing, and reduced urine globotriaosylceramide concentration were seen with treatment schedule C. Agalsidase alfa was safe and well tolerated with all schedules. In conclusion, the primary analyses did not find weekly infusions of agalsidase alfa to be statistically better than the approved dosing schedule however the data indicates that further studies with more patients over a longer period are required to more accurately determine the optimum dose and schedule. PMID:23702393

  4. Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.

    PubMed

    Sánchez-Fernández, Elena M; García Fernández, José M; Mellet, Carmen Ortiz

    2016-04-25

    Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions and aberrant storage of metabolites in the lysosomes. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are available for a few of these conditions, but most remain orphan. A main difficulty is that virtually all LSDs involve neurological decline and neither proteins nor the current SRT drugs can cross the blood-brain barrier. Twenty years ago a new therapeutic paradigm better suited for neuropathic LSDs was launched, namely pharmacological chaperone (PC) therapy. PCs are small molecules capable of binding to the mutant protein at the ER, inducing proper folding, restoring trafficking and increasing enzyme activity and substrate processing in the lysosome. In many LSDs the mutated protein is a glycosidase and the accumulated substrate is an oligo- or polysaccharide or a glycoconjugate, e.g. a glycosphingolipid. Although it might appear counterintuitive, substrate analogues (glycomimetics) behaving as competitive glycosidase inhibitors are good candidates to perform PC tasks. The advancements in the knowledge of the molecular basis of LSDs, including enzyme structures, binding modes, trafficking pathways and substrate processing mechanisms, have been put forward to optimize PC selectivity and efficacy. Moreover, the chemical versatility of glycomimetics and the variety of structures at hand allow simultaneous optimization of chaperone and pharmacokinetic properties. In this Feature Article we review the advancements made in this field in the last few years and the future outlook through the lessons taught by three archetypical LSDs: Gaucher disease, GM1-gangliosidosis and Fabry disease. PMID:27043200

  5. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

    PubMed

    van der Tol, L; Smid, B E; Poorthuis, B J H M; Biegstraaten, M; Deprez, R H Lekanne; Linthorst, G E; Hollak, C E M

    2014-01-01

    Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the significance of GLA gene variants and to calculate the prevalence of definite classical and uncertain cases. We searched PubMed and Embase for screening studies on FD. We collected data on screening methods, clinical, biochemical and genetic assessments. The pooled prevalence of identified subjects and those with a definite diagnosis of classical FD were calculated. As criteria for a definite diagnosis, we used the presence of a GLA variant, absent or near-absent leukocyte enzyme activity and characteristic features of FD. Fifty-one studies were selected, 45 in high-risk and 6 in newborn populations. The most often used screening method was an enzyme activity assay. Cut-off values comprised 10-55% of the mean reference value for men and up to 80% for women. Prevalence of GLA variants in newborns was 0.04%. In high-risk populations the overall prevalence of individuals with GLA variants was 0.62%, while the prevalence of a definite diagnosis of FD was 0.12%. The majority of identified individuals in high-risk and newborn populations harbour GVUS or neutral variants in the GLA gene. To determine the pathogenicity of a GVUS in an individual, improved diagnostic criteria are needed. We propose a diagnostic algorithm to approach the individual with an uncertain diagnosis. PMID:23922385

  6. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

    PubMed Central

    Redonnet-Vernhet, I; Ploos van Amstel, J K; Jansen, R P; Wevers, R A; Salvayre, R; Levade, T

    1996-01-01

    We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A. While one of the twins was clinically affected, the other was asymptomatic. Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation. The son of the unaffected twin sister was shown to be hemizygous. Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231. Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents. The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status. Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions. While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew. These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair. This is the first documented case of female twins discordant for Fabry disease. Images PMID:8863162

  7. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

    PubMed Central

    Goker-Alpan, Ozlem; Longo, Nicola; McDonald, Marie; Shankar, Suma P; Schiffmann, Raphael; Chang, Peter; Shen, Yinghua; Pano, Arian

    2016-01-01

    Background Following a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease. Methods In an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14 children aged ≥7 years received 0.2 mg/kg agalsidase alfa every other week for 55 weeks. Primary endpoints: safety, changes in autonomic function (2-hour Holter monitoring). Secondary endpoints: estimated glomerular filtration rate, left ventricular mass index (LVMI), midwall fractional shortening, pharmacodynamic parameters, and patient-reported quality-of-life. Results Among five boys (median 10.2 [range 6.7, 14.4] years) and nine girls (14.8 [10.1, 15.9] years), eight patients experienced infusion-related adverse events (vomiting, n=4; nausea, n=3; dyspnea, n=3; chest discomfort, n=2; chills, n=2; dizziness, n=2; headache, n=2). One of these had several hypersensitivity episodes. However, no patient discontinued for safety reasons and no serious adverse events occurred. One boy developed immunoglobulin G (IgG) and neutralizing antidrug antibodies. Overall, no deterioration in cardiac function was observed in seven patients with low/abnormal SDNN (standard deviation of all filtered RR intervals; <100 ms) and no left ventricular hypertrophy: mean (SD) baseline SDNN, 81.6 (20.9) ms; mean (95% confidence interval [CI]) change from baseline to week 55, 17.4 (2.9, 31.9) ms. Changes in SDNN correlated with changes in LVMI (r=−0.975). No change occurred in secondary efficacy endpoints: mean (95% CI) change from baseline at week 55 in LVMI, 0.16 (−3.3, 3.7) g/m2.7; midwall fractional shortening, −0.62% (−2.7%, 1.5%); estimated glomerular filtration rate, 0.15 (−11.4, 11.7) mL/min/1.73 m2; urine protein, −1.8 (−6.0, 2.4) mg/dL; urine microalbumin, 0.6 (−0.5, 1.7) mg/dL; plasma globotriaosylceramide (Gb3), −5.71 (−10.8, −0.6) nmol/mL; urinary Gb3, −1,403.3 (−3,714.0, 907.4) nmol/g creatinine

  8. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

    PubMed

    Fan, J Q; Ishii, S; Asano, N; Suzuki, Y

    1999-01-01

    Fabry disease is a disorder of glycosphingolipid metabolism caused by deficiency of lysosomal alpha-galactosidase A (alpha-Gal A), resulting in renal failure along with premature myocardial infarction and strokes. No effective treatment of this disorder is available at present. Studies of residual activities of mutant enzymes in many Fabry patients showed that some of them had kinetic properties similar to those for normal alpha-Gal A, but were significantly less stable, especially in conditions of neutral pH (refs. 3-5). The biosynthetic processing was delayed in cultured fibroblasts of a Fabry patient, and the mutant protein formed an aggregate in endoplasmic reticulum, indicating that the enzyme deficiency in some mutants was mainly caused by abortive exit from the endoplasmic reticulum, leading to excessive degradation of the enzyme. We report here that 1-deoxy-galactonojirimycin (DGJ), a potent competitive inhibitor of alpha-Gal A, effectively enhanced alpha-Gal A activity in Fabry lymphoblasts, when administrated at concentrations lower than that usually required for intracellular inhibition of the enzyme. DGJ seemed to accelerate transport and maturation of the mutant enzyme. Oral administration of DGJ to transgenic mice overexpressing a mutant alpha-Gal A substantially elevated the enzyme activity in some organs. We propose a new molecular therapeutic strategy for genetic metabolic diseases of administering competitive inhibitors as 'chemical chaperons' at sub-inhibitory intracellular concentrations. PMID:9883849

  9. Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.

    PubMed

    Wataya-Kaneda, Mari

    2016-01-01

    Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. These diseases have characteristic symptoms derived from each pathogenesis besides dyshidrosis. The information in this chapter is useful for the differential diagnosis of representative genetic disorders with dyshidrosis. PMID:27584961

  10. Patients with chronic pulmonary disease.

    PubMed

    Hong, Caron M; Galvagno, Samuel M

    2013-11-01

    Chronic pulmonary disease is common among the surgical population and the importance of a thorough and detailed preoperative assessment is monumental for minimizing morbidity and mortality and reducing the risk of perioperative pulmonary complications. These comorbidities contribute to pulmonary postoperative complications, including atelectasis, pneumonia, and respiratory failure, and can predict long-term mortality. The important aspects of the preoperative assessment for patients with chronic pulmonary disease, and the value of preoperative testing and smoking cessation, are discussed. Specifically discussed are preoperative pulmonary assessment and management of patients with chronic obstructive pulmonary disease, asthma, restrictive lung disease, obstructive sleep apnea, and obesity. PMID:24182721

  11. Holographic Fabry-Perot spectrometer.

    PubMed

    Martínez-Matos, O; Rodrigo, José A; Vaveliuk, P; Calvo, M L

    2011-02-15

    We propose a spectrum analyzer based on the properties of a hologram recorded with the field transmitted by a Fabry-Perot etalon. The spectral response of this holographic Fabry-Perot spectrometer (HFPS) is analytically investigated in the paraxial approximation and compared with a conventional Fabry-Perot etalon of similar characteristics. We demonstrate that the resolving power is twice increased and the free spectral range (FSR) is reduced to one-half. The proposed spectrometer could improve the operational performance of the etalon because it can exhibit high efficiency and it would be insensible to environmental conditions such as temperature and vibrations. Our analysis also extends to another variant of the HFPS based on holographic multiplexing of the transmitted field of a Fabry-Perot etalon. This device increases the FSR, keeping the same HFPS performance.

  12. Kimura's disease in Malay patients.

    PubMed

    Shahrul, H; Baharudin, A; Effat, O

    2007-08-01

    Kimura's Disease (KD) is an uncommon, chronic inflammatory disorder of unknown etiology which is endemic in Orientals. It is characterized by painless, large solitary or multiple nodules in subcutis of head and neck region or the major salivary glands, associated with regional lymphadenopathy, blood eosinophilia and elevated IgE levels. Its treatment ranging from conservative observation in asymptomatic patient to surgical resection of the mass, corticotherapy and irradiation therapy for the symptomatic ones.

  13. Preliminary Fabry Perot testing - 1986

    SciTech Connect

    Benner, D.E.

    1987-04-30

    Fabry Perot interferometry is a method of determining instantaneous velocities of an object in motion. The interferometer system is composed of the Fabry Perot interferometer, a laser, an electronic streak camera, and several focusing lenses. The first tests discussed were done on exploding bridgewire devices. During these tests, several system parameters were changed. These changes did not seem to affect the data, which appeared to be consistent. The second tests performed focused on slapper-type devices. It was determined that sandblasted, vapor-deposited aluminum on the slapper material would be required to yield quality data. Streak camera failure prevented much data from being collected. An effort is being made to replace the current streak camera. After it is replaced, a Fabry Perot and velocity interferometry system for any reflector comparison will be made. The results will be published as the conclusion to this report.

  14. Preliminary Fabry Perot testing - 1986

    NASA Astrophysics Data System (ADS)

    Benner, D. E.

    1987-04-01

    Fabry Perot interferometry is a method of determining instantaneous velocities of an object in motion. The interferometer system is composed of the Fabry Perot interferometer, a laser, an electronic streak camera, and several focusing lenses. The first tests discussed were done on exploding bridgewire devices. During these tests, several system parameters were changed. These changes did not seem to affect the data, which appeared to be consistent. The second tests performed focused on slapper-type devices. It was determined that sandblasted, vapor-deposited aluminum on the slapper material would be required to yield quality data. Streak camera failure prevented much data from being collected. An effort is being made to replace the current streak camera. After it is replaced, a Fabry Perot and velocity interferometry system for any reflector comparison will be made. The results will be published as the conclusion to this report.

  15. Neurologic Diseases in Special Care Patients.

    PubMed

    Robbins, Miriam R

    2016-07-01

    Neurologic diseases can have a major impact on functional capacity. Patients with neurologic disease require individualized management considerations depending on the extent of impairment and impact on functional capacity. This article reviews 4 of the more common and significant neurologic diseases (Alzheimer disease, cerebrovascular accident/stroke, multiple sclerosis, and Parkinson disease) that are likely to present to a dental office and provides suggestions on the dental management of patients with these conditions.

  16. Information for patients about inflammatory bowel disease.

    PubMed

    Mansfield, J C; Tanner, A R; Bramble, M G

    1997-01-01

    In inflammatory bowel disease it is important that patients understand their condition since this helps to improve long-term management of the disease. The aim of this study was to assess the information given to patients with inflammatory bowel disease about their condition, its treatment and the National Association for Colitis and Crohn's disease. Two surveys were performed, using anonymous questionnaires. One was of all association members in north-east England, the other was a sample of patients attending medical outpatients. The surveys showed that more patients heard of the National Association for Colitis and Crohn's disease from the media than from medical sources. Of patients seen in medical clinics, 75% would welcome more information about their disease. In four of the six participating centres less than half the patients had been told about the existence of a patients' association. There was considerable variation in the instructions on what action to take in the event of a relapse. These findings suggest that the opportunity offered by out-patient clinics to educate and inform patients is often wasted. Clinicians often neglect to mention the National Association for Colitis and Crohn's disease, especially to patients with long-standing disease. A higher priority should be given to providing patients with appropriate information on inflammatory bowel disease. Three simple audit standards for the organisation of outpatient clinic information are proposed. PMID:9131520

  17. Kawasaki disease in a postpartum patient.

    PubMed Central

    Fason, Janet T.; Fry, Yvonne W.; Smith, Dominique

    2004-01-01

    Kawasaki disease, also known as mucocutaneous lymph node syndrome, is a multisystem disease. It usually affects children below the age of five, but it occasionally affects adults. There are less than 50 English-reported adult cases in the literature, and only five reported cases of Kawasaki disease and pregnancy, as of 2003. The cases associated with pregnancy involved patients who had a history of Kawasaki disease during childhood and addressed how the complications of the illness (i.e,. coronary artery aneurysms) were managed during pregnancy and delivery. There are no reported cases of Kawasaki disease in postpartum patients. This article presents a case of Kawasaki disease in a 21-year-old, four-week postpartum patient who initially responded to intravenous (IV) antibiotic therapy. This paper will review the diagnosis and treatment of Kawasaki disease as well as the multiple outside variables that impact the management of adult postpartum patients with Kawasaki disease. PMID:15586654

  18. Dermatological diseases in patients with chronic kidney disease

    PubMed Central

    Gagnon1, Amy L.; Desai, Tejas

    2013-01-01

    Context: There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Evidence Acquisitions: Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Results: Some cutaneous diseases are clearly unique to this population. Of them, Lindsay’s Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. Conclusions: It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions. PMID:24475435

  19. Radiotherapy in patients with connective tissue diseases.

    PubMed

    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.

  20. Sleep in patients with restrictive lung disease.

    PubMed

    Won, Christine H J; Kryger, Meir

    2014-09-01

    Restrictive lung disease leads to ventilatory defects and diffusion impairments. These changes may contribute to abnormal nocturnal pathophysiology, including sleep architecture disruption and impaired ventilation and oxygenation. Patients with restrictive lung disease may suffer significant daytime fatigue and dysfunction. Hypercarbia and hypoxemia during sleep may impact progression of lung disease and related symptoms. Little is known about the impact of treatment of sleep disruption on sleep quality and overall prognosis in restrictive lung disease. This review discusses the pathophysiology of sleep and comorbid sleep disorders in restrictive lung diseases including interstitial lung disease, neuromuscular disease, and obesity hypoventilation syndrome.

  1. Resilience in Patients with Ischemic Heart Disease

    PubMed Central

    de Lemos, Conceição Maria Martins; Moraes, David William; Pellanda, Lucia Campos

    2016-01-01

    Background Resilience is a psychosocial factor associated with clinical outcomes in chronic diseases. The relationship between this protective factor and certain diseases, such heart diseases, is still under-explored. Objective The present study sought to investigate the frequency of resilience in individuals with ischemic heart disease. Method This was a cross-sectional study with 133 patients of both genders, aged between 35 and 65 years, treated at Rio Grande do Sul Cardiology Institute - Cardiology University Foundation, with a diagnosis of ischemic heart disease during the study period. Sixty-seven patients had a history of acute myocardial infarction. The individuals were interviewed and evaluated by the Wagnild & Young resilience scale and a sociodemographic questionnaire. Results Eighty-one percent of patients were classified as resilient according to the scale. Conclusion In the sample studied, resilience was identified in high proportion among patients with ischemic heart disease. PMID:26815312

  2. Parkinson's Disease Research Web - Information for Patients and Caregivers

    MedlinePlus

    ... Find People About NINDS Parkinson's Disease Research Web - Information for Patients & Caregivers Parkinson's Disease Highlights for Patients & ... and progression biomarkers for PD. NINDS Parkinson's Disease Information Parkinson's Disease Information Page Parkinson's Disease: Hope Through ...

  3. Alloimmunization in multitransfused liver disease patients: Impact of underlying disease

    PubMed Central

    Bajpai, Meenu; Gupta, Shruti; Jain, Priyanka

    2016-01-01

    Introduction: Transfusion support is vital to the management of patients with liver diseases. Repeated transfusions are associated with many risks such as transfusion-transmitted infection, transfusion immunomodulation, and alloimmunization. Materials and Methods: A retrospective data analysis of antibody screening and identification was done from February 2012 to February 2014 to determine the frequency and specificity of irregular red-cell antibodies in multitransfused liver disease patients. The clinical and transfusion records were reviewed. The data was compiled, statistically analyzed, and reviewed. Results: A total of 842 patients were included in our study. Alloantibodies were detected in 5.22% of the patients. Higher rates of alloimmunization were seen in patients with autoimmune hepatitis, cryptogenic liver disease, liver damage due to drugs/toxins, and liver cancer patients. Patients with alcoholic liver disease had a lower rate of alloimmunization. The alloimmunization was 12.7% (23/181) in females and 3.17% (21/661) in males. Antibodies against the Rh system were the most frequent with 27 of 44 alloantibodies (61.36%). The most common alloantibody identified was anti-E (11/44 cases, 25%), followed by anti-C (6/44 cases, 13.63%). Conclusion: Our findings suggest that alloimmunization rate is affected by underlying disease. Provision of Rh and Kell phenotype-matched blood can significantly reduce alloimmunization. PMID:27605851

  4. Alloimmunization in multitransfused liver disease patients: Impact of underlying disease

    PubMed Central

    Bajpai, Meenu; Gupta, Shruti; Jain, Priyanka

    2016-01-01

    Introduction: Transfusion support is vital to the management of patients with liver diseases. Repeated transfusions are associated with many risks such as transfusion-transmitted infection, transfusion immunomodulation, and alloimmunization. Materials and Methods: A retrospective data analysis of antibody screening and identification was done from February 2012 to February 2014 to determine the frequency and specificity of irregular red-cell antibodies in multitransfused liver disease patients. The clinical and transfusion records were reviewed. The data was compiled, statistically analyzed, and reviewed. Results: A total of 842 patients were included in our study. Alloantibodies were detected in 5.22% of the patients. Higher rates of alloimmunization were seen in patients with autoimmune hepatitis, cryptogenic liver disease, liver damage due to drugs/toxins, and liver cancer patients. Patients with alcoholic liver disease had a lower rate of alloimmunization. The alloimmunization was 12.7% (23/181) in females and 3.17% (21/661) in males. Antibodies against the Rh system were the most frequent with 27 of 44 alloantibodies (61.36%). The most common alloantibody identified was anti-E (11/44 cases, 25%), followed by anti-C (6/44 cases, 13.63%). Conclusion: Our findings suggest that alloimmunization rate is affected by underlying disease. Provision of Rh and Kell phenotype-matched blood can significantly reduce alloimmunization.

  5. Chronic disease management for patients with respiratory disease.

    PubMed

    Bryant, Elizabeth

    National and international awareness of the heavy burden of chronic disease has led to the development of new strategies for managing care. Elisabeth Bryant explains how self-care, education and support for more patients with complex needs should be built into planned care delivery, and emphasises that the patient is the key member of the care team.

  6. Interventional treatment of congenital heart disease patients.

    PubMed

    Marini, D; Agnoletti, G

    2010-02-01

    During the last 10 years the interventional treatment of congenital and structural heart diseases has known enormous changes in techniques, methods and patients management. Lesions previously treated surgically are now approached in the catheterization laboratory. The advent of multidisciplinary approach of congenital heart disease has made possible the development of hybrid techniques, of fetal medicine and of magnetic resonance imaging (MRI)- guided cardiac catheterization. Technological innovation has introduced new concepts in treatment of congenital heart disease patients and has allowed to adapt different techniques to single patients. The knowledge of the evolution of structural heart disease has allowed to chose the best percutaneous and/ or surgical technique and the best materials to optimize long term results. Improvement in non invasive imaging modality has allowed to diminish the radiation exposure and to provide useful information to interventional cardiologists and cardiac surgeons. Absorbable, drug eluting tools will change the treatment and probably the natural history of congenital and structural cardiac and vascular diseases.

  7. Serologic celiac disease in patients with inflammatory bowel disease

    PubMed Central

    Tavakkoli, Hamid; Haghdani, Saeid; Adilipour, Haiedeh; Daghaghzadeh, Hamed; Minakari, Mohammad; Adibi, Peyman; Ahmadi, Khalil; Emami, Mohammah Hasan

    2012-01-01

    Background: There is an association of celiac disease (CD) with several gastrointestinal illnesses. We aimed to determine the prevalence of CD in patients with inflammatory bowel disease (IBD) to evaluate the value of the routine serological tests for CD in these patients. Materials and Methods: patients with IBD underwent screening test for CD. The screening test was based on IgA anti-tTG antibody evaluated by ELISA method and IgA EMA (endomysial antibody) measured by the indirect immunofluorescence method. Fisher exact and chi-square and t tests were used for data analysis. Results: the study was conducted on 100 patients, with a mean age of 34.74 ± 12.03 (SD) years. The mean simplified Crohn's disease activity index was 90 ± 17 (SE) and the mean colitis activity index was 3.46± 0.96 (SE). Seventeen patients (17%) had IgA anti-tTG antibody levels above the cutoff point (> 20). Thirty-two patients were positive for IgA EMA. IgA EMA was positive in nine IgA anti-tTG positive patients (three patients with Crohn's Disease and six ones with ulcerative colitis). Then, the prevalence of serologic CD was 9% that was higher than that of general population. A significant correlation was found between the results of IgA EMA and those of IgA anti-tTG (P=0.001) whereas Fisher exact test revealed significant difference between frequency distribution of positive and negative results of IgA EMA and IgA anti-tTG in patients with ulcerative colitis and Crohn's disease (P=0). Conclusion: the prevalence of serologic CD in general population in Iran has been reported to be 0.6–0.96%. Then, its prevalence in our sample size was about ten times more than that in general population. PMID:23264789

  8. Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy

    PubMed Central

    Krämer, Johannes; Bijnens, Bart; Störk, Stefan; Ritter, Christian O.; Liu, Dan; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2015-01-01

    Background In spite of several research studies help to describe the heart in Fabry disease (FD), the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated. Methods In 74 FD patients (mean age 36±12 years; 45 females) the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE). Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI) and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT). After 51±24 months, a follow-up examination was performed. Results Systolic blood pressure (SBP) was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; P<0.001) indicating an association of higher SI in more advanced stages of the cardiomyopathy. SI at baseline was positively associated with the increase of LE-positive myocardium during follow-up. The highest SBP (125±19 mmHg) and also the highest SI (0.32±0.05) was found in the subgroup with a rapidly increasing LE (ie, ≥0.2% per year; n = 16; P = 0.04). Multivariate logistic regression analysis including SI, SBP, EF, left ventricular volumes, wall thickness and NT-proBNP adjusted for age and sex showed SI as the most powerful parameter to detect rapid progression of LE (AUC = 0.785; P<0.05). Conclusions LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy. PMID:26600044

  9. Prism Management in Patients with Neurodegenerative Disease.

    PubMed

    Gilligan, Rikki

    2015-01-01

    Patients with motility problems due to neurodegenerative disease such as Parkinson's and its variations often present challenging cases for the orthoptist. A few "tricks of the trade" will be presented on how to make a Parkinson's patient's daily life a little easier.

  10. Tracheobronchitis in a Patient With Crohn's Disease

    PubMed Central

    Yeung, Vincent; Govind, Anusha G.; Arastu, Sanaa

    2016-01-01

    We report a 63-year-old woman who presented with 1 month of non-productive cough and non-bloody diarrhea. She was on maintenance therapy for a 15-year history of Crohn's disease. Treatment with systemic corticosteroids resulted in rapid improvement of both her diarrhea and respiratory symptoms. Our patient is unique in that she presented with tracheobronchitis during an acute flare of her Crohn's without obvious lung pathology on chest imaging. Tracheobronchitis is a rare manifestation of inflammatory bowel disease that should be considered in Crohn's disease patients presenting with persistent non-infectious cough. PMID:27144198

  11. [Disease management for chronic heart failure patient].

    PubMed

    Bläuer, Cornelia; Pfister, Otmar; Bächtold, Christa; Junker, Therese; Spirig, Rebecca

    2011-02-01

    Patients with chronic heart failure (HF) are limited in their quality of life, have a poor prognosis and face frequent hospitalisations. Patient self-management was shown to improve quality of life, reduce rehospitalisations and costs in patients with chronic HF. Comprehensive disease management programmes are critical to foster patient self-management. The chronic care model developed by the WHO serves as the basis of such programmes. In order to develop self-management skills a needs orientated training concept is mandatory, as patients need both knowledge of the illness and the ability to use the information to make appropriate decisions according to their individual situation. Switzerland has no established system for the care of patients with chronic diseases in particular those with HF. For this reason a group of Swiss experts for HF designed a model for disease management for HF patients in Switzerland. Since 2009 the Swiss Heart Foundation offers an education programme based on this model. The aim of this programme is to offer education and support for practitioners, patients and families. An initial pilot evaluation of the program showed mixed acceptance by practitioners, whereas patient assessed the program as supportive and in line with their requirements.

  12. Coronary artery disease in the military patient.

    PubMed

    Parsons, Iain; White, S; Gill, R; Gray, H H; Rees, P

    2015-09-01

    Ischaemic heart disease is the most common cause of sudden death in the UK, and the most common cardiac cause of medical discharge from the Armed Forces. This paper reviews current evidence pertaining to the diagnosis and management of coronary artery disease from a military perspective, encompassing stable angina and acute coronary syndromes. Emphasis is placed on the limitations inherent in the management of acute coronary syndromes in the deployed environment. Occupational issues affecting patients with coronary artery disease are reviewed. Consideration is also given to the potential for coronary artery disease screening in the military, and the management of modifiable cardiovascular disease risk factors, to help decrease the prevalence of coronary artery disease in the military population. PMID:26246347

  13. Laparoscopic splenectomy in patients with hematologic diseases.

    PubMed Central

    Flowers, J L; Lefor, A T; Steers, J; Heyman, M; Graham, S M; Imbembo, A L

    1996-01-01

    OBJECTIVE. The authors review their initial experience with laparoscopic splenectomy in patients with hematologic diseases. Efficacy, morbidity, and mortality of the technique are presented, and other patient recovery parameters are discussed. SUMMARY BACKGROUND DATA. Laparoscopic splenectomy is performed infrequently and data regarding its safety and efficacy are scarce. Factors such as a high level of technical difficulty, the potential for sudden, severe hemorrhage, and slow accrual of operative experience due to a relatively limited number of procedures are responsible. The potential patient benefits from the development of a minimally invasive form of splenectomy are significant. METHODS. Clinical follow-up, a prospective longitudinal database, and review of medical records were analyzed for all patients referred for elective splenectomy for hematologic disease from March 1992 to March 1995. RESULTS. Laparoscopic splenectomy was attempted in 43 patients and successfully completed in 35 (81%). Therapeutic platelet response to splenectomy occurred in 82% of patients with immune thrombocytopenic purpura and hematocrit level increased in 60% of patients with autoimmune hemolytic anemia undergoing successful laparoscopic splenectomy. The morbidity rate was 11.6% (5 of 43 patients), and the mortality rate was 4.7% (2 of 43 patients). Return of gastrointestinal function occurred in patients 23.1 hours after laparoscopic splenectomy and 76 hours after conversion to open splenectomy (p < 0.05). Mean length of stay was 2.7 days after laparoscopic splenectomy and 6.8 days after conversion to open splenectomy (p < 0.05). CONCLUSION. Laparoscopic splenectomy may be performed with efficacy, morbidity, and mortality rates comparable to those of open splenectomy for hematologic diseases, and it appears to retain other patient benefits of laparoscopic surgery. Images Figure 2. Figure 3. Figure 4. Figure 5. Figure 6. PMID:8678613

  14. Analgesia for patients with advanced disease: 2

    PubMed Central

    Hall, E; Sykes, N

    2004-01-01

    The first article in this series explored epidemiology and patterns of pain in advanced disease, non-pharmacological treatments, and the use of opioids to manage pain. This second article examines the use of non-opioid drugs and anaesthetic interventions for pain relief in advanced disease. It also discusses an approach to managing analgesia in dying patients and finally looks at future developments. PMID:15082837

  15. The emergence of Parkinson disease among patients with Gaucher disease.

    PubMed

    Elstein, Deborah; Alcalay, Roy; Zimran, Ari

    2015-03-01

    In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level. It has been an unexpected happenstance that it has been discovered that a rare monogenetic disease has an interface at many points with a neurological disorder of the elderly that has both familial and sporadic forms: to date there is no cure for either of these disorders.

  16. HLA genotyping in pediatric celiac disease patients

    PubMed Central

    Stanković, Biljana; Radlović, Nedeljko; Leković, Zoran; Ristić, Dragana; Radlović, Vladimir; Nikčević, Gordana; Kotur, Nikola; Vučićević, Ksenija; Kostić, Tatjana; Pavlović, Sonja; Zukić, Branka

    2014-01-01

    Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Children’s Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB1 alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1*02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development. PMID:25172978

  17. Managing coeliac disease in patients with diabetes.

    PubMed

    Leonard, M M; Cureton, P A; Fasano, A

    2015-01-01

    The association between coeliac disease and type 1 diabetes has long been established. The combination of genetic susceptibility along with a potential role for gluten in the pathogenesis of autoimmunity makes defining gluten's role in type 1 diabetes extremely important. Evidence supporting the role of a gluten-free diet to improve complications associated with type 1 diabetes is not robust. However there is evidence to support improved growth, bone density and potentially the prevention of additional autoimmune diseases in patients with coeliac disease and type 1 diabetes. The gluten free diet is expensive and challenging to adhere to in people already on a modified diet. Early identification of those who have coeliac disease and would benefit from a gluten-free diet is of utmost importance to prevent complications associated with type 1 diabetes and coeliac disease.

  18. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.

    PubMed

    Lisi, Emily C; Gillespie, Scott; Laney, Dawn; Ali, Nadia

    2016-09-01

    Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families. In this study, 47 individuals with Fabry disease (FD), 22 with Gaucher disease (GD), and 22 with late-onset Pompe disease (LOPD) were surveyed regarding how their life might have been impacted by NBS. Of the 91 participants, none had symptoms at birth and 42 (46.7%) were symptom-free until adulthood. Over half (52.8%) were diagnosed ≥5years from symptom onset; of these, significantly more had FD (60%) or LOPD (63.6%) than GD (23.8%). However, length of diagnostic odyssey was not significantly correlated with opinion on NBS. Most participants either strongly agreed (45%) or agreed (33.3%) with NBS for their condition, with no significant differences between diseases. Opinions on NBS were correlated with participants' opinions on whether NBS would have resulted in better current health, but uncorrelated with disease severity or current life satisfaction. Significantly more participants with FD (42.6%) and LOPD (63.6%) than GD (13.6%) felt they would have greater life satisfaction had they been diagnosed as a newborn (p=0.007). Almost half (41%) of participants would have made different life decisions, including lifestyle, financial, and reproductive decisions. Regarding potential harm, participants were most concerned about insurability and least concerned about removal of children's autonomy. In conclusion, NBS is highly approved of among individuals with LSDs themselves, as it would significantly eliminate diagnostic odysseys and potentially alter

  19. Musculoskeletal manifestations in patients with malignant disease.

    PubMed

    Gheita, Tamer A; Ezzat, Yasser; Sayed, Safaa; El-Mardenly, Ghada; Hammam, Waleed

    2010-02-01

    To detect and describe the incidence of musculoskeletal manifestations in different malignant diseases as well as their relation to the treatment received whether by chemotherapy or radiation therapy. Sixty patients with different malignant diseases were included in this study, 45 with solid tumors and 15 patients with hematological malignancy. The mean age was 46.55 +/- 11.04 years and the mean disease duration was 2 +/- 0.75 years. The patients were fully examined for any rheumatologic involvement, laboratory investigations were performed as well as dual energy X-ray absorptiometry study for bone densitometry. Treatment strategies were assessed including the chemotherapeutics, radiation therapy, and/or surgery. Myalgias and arthralgias were the most frequent followed by flexor tenosynovitis, frozen shoulder, and fibromyalgia syndrome. Hypertrophic osteoarthropathy was seen in five patients, cutaneous vasculitis in two patients as well as arthritis. Osteonecrosis was present in one of the lunate carpal bones of a patient with non-Hodgkin's lymphoma (1.67%) and receiving high dose steroids. Rheumatoid factor was positive in four patients, three of which had hepatitis C virus positivity and cryoglobulins. Anti-neutrophil cytoplasmic antibody was negative in all the studied patients. The bone mineral density was significantly reduced in the patients with malignancy compared to the control. Mild to moderate osteoporosis was present, being more evident in the spine and forearm. The bone loss was higher in those with solid tumors and even more obvious in those receiving aromatase inhibitors. Musculoskeletal manifestations occurring during malignancies and following the treatment represent a significant percentage of symptoms and signs which may raise a clue to differential diagnosis.

  20. Arrhythmias in patients with congenital heart disease.

    PubMed

    Walsh, Edward P

    2002-12-01

    Improved surgical outcome for patients with congenital heart disease (CHD) has created a rapidly expanding population of adolescents and young adult survivors. Cardiac arrhythmias are a common late sequelae of this form of heart disease. Effective treatment requires clear understanding of the underlying anatomic defect as well as the specific surgical interventions. Intraatrial reentrant tachycardia (IART) is the most common and difficult arrhythmia encountered in these patients. Traditional IART treatment with medication has been largely unsuccessful, but radiofrequency ablation has emerged in recent years as a promising option for many patients. The availability of three-dimensional mapping systems and irrigated-tip ablation catheters has improved acute success rates for IART to better than 90%. Postablation recurrence of IART still remains problematic for patients who have undergone the Fontan operation, in which case atrial maze surgery may be considered. Ventricular tachycardia (VT) is seen in a smaller number of CHD patients, most notably those with tetralogy of Fallot or aortic stenosis. The adoption of implantable defibrillator (ICD) therapy for these patients has improved outcome. Owing to their complex anatomy, the CHD population presents unique challenges during both catheterization and device implant. Multicenter study of this unique patient group is needed in order to develop more objective treatment guidelines.

  1. Subsequent leukaemia in autoimmune disease patients.

    PubMed

    Hemminki, Kari; Liu, Xiangdong; Försti, Asta; Ji, Jianguang; Sundquist, Jan; Sundquist, Kristina

    2013-06-01

    Previous studies have shown that patients diagnosed with some autoimmune (AI) diseases are at an increased risk of leukaemia but limited data are available on survival. We systematically analysed the risks (standardized incidence ratio, SIR) and survival (hazard ratio, HR) in nine types of leukaemia among 402 462 patients hospitalized for any of 33 AI diseases and compared to persons not hospitalized for AI diseases. Risk for all leukaemia was increased after 13 AI diseases and survival was decreased after six AI diseases. SIRs were increased after all AI diseases for seven types of leukaemia, including SIR 1·69 (95% confidence interval (CI): 1·29-2·19) for acute lymphoblastic leukaemia (ALL), 1·85 (95% CI: 1·65-2·07) for acute myeloid leukaemia, 1·68 (95% CI: 1·37-2·04) for chronic myeloid leukaemia, 2·20 (95% CI: 1·69-2·81) for 'other myeloid leukaemia', 2·45 (95% 1·99-2·98) for 'other and unspecified leukaemia', 1·81 (95% CI: 1·11-2·81) for monocytic leukaemia, and 1·36 (95% CI: 1·08-1·69) for myelofibrosis. The HRs were increased for four types of leukaemia, most for myelofibrosis (1·74, 95% CI: 1·33-2·29) and ALL (1·42, 95% CI: 1·03-1·95). Some AI diseases, including rheumatoid arthritis, were associated with increased SIRs and HRs in many types of leukaemia. The present data showed increases in risk and decreases in survival for many types of leukaemia after various AI diseases. Leukaemia is a rare complication in AI disease but findings about this comorbidity at the time of leukaemia diagnosis may help to optimize the treatment and improve survival.

  2. Asymmetrical Pedaling Patterns in Parkinson's Disease Patients

    PubMed Central

    Penko, Amanda L.; Hirsch, Joshua R.; Voelcker-Rehage, Claudia; Martin, Philip E.; Blackburn, Gordon; Alberts, Jay L.

    2015-01-01

    Background Approximately 1.5 million Americans are affected by Parkinson's disease [1] which includes the symptoms of postural instability and gait dysfunction. Currently, clinical evaluations of postural instability and gait dysfunction consist of a subjective rater assessment of gait patterns using items from the Unified Parkinson's Disease Rating Scale, and assessments can be insensitive to the effectiveness of medical interventions. Current research suggests the importance of cycling for Parkinson's disease patients, and while Parkinson's gait has been evaluated in previous studies, little is known about lower extremity control during cycling. The purpose of this study is to examine the lower extremity coordination patterns of Parkinson's patients during cycling. Methods Twenty five participants, ages 44-72, with a clinical diagnosis of idiopathic Parkinson's disease participated in an exercise test on a cycle ergometer that was equipped with pedal force measurements. Crank torque, crank angle and power produced by right and left leg were measured throughout the test to calculate Symmetry Index at three stages of exercise (20 Watt, 60 Watt, maximum performance). Findings Decreases in Symmetry Index were observed for average power output in Parkinson's patients as workload increased. Maximum power Symmetry Index showed a significant difference in symmetry between performance at both the 20 Watt and 60 Watt stage and the maximal resistance stage. Minimum power Symmetry Index did not show significant differences across the stages of the test. While lower extremity asymmetries were present in Parkinson's patients during pedaling, these asymmetries did not correlate to postural instability and gait dysfunction Unified Parkinson's Disease Rating Scale scores. Interpretation This pedaling analysis allows for a more sensitive measure of lower extremity function than the Unified Parkinson's Disease Rating Scale and may help to provide unique insight into current and

  3. Recovery of Lyme disease spirochetes from patients.

    PubMed Central

    Steere, A. C.; Grodzicki, R. L.; Craft, J. E.; Shrestha, M.; Kornblatt, A. N.; Malawista, S. E.

    1984-01-01

    Since the summer of 1982, we have cultured patient specimens for Lyme disease spirochetes. Of 118 patients cultured, four specimens yielded spirochetes: two from blood, one from a skin biopsy specimen of erythema chronicum migrans (ECM), and one from cerebrospinal fluid. All four isolates appeared identical when examined with a monoclonal antibody. However, attempts to recover the spirochete from synovium or synovial fluid were unsuccessful. In addition, the organism could not be visualized in skin or synovial biopsy specimens using the avidin-biotin peroxidase complex detection system. Thus, the current yield in culturing spirochetes from patients is quite low, and it is not yet known whether the organism is still alive later in the disease when arthritis is present. PMID:6393606

  4. Oral status in patients with Crohn's disease.

    PubMed

    Sundh, B; Hultén, L

    1982-01-01

    The dental status in a randomly selected group of patients with Crohn's disease was assessed and compared with that in a normal population. The results showed evidence that these patients in spite of an ordinary oral hygiene standard have a high caries frequency and activity, and that dental caries was particularly common in those subjected to extensive small bowel resection. Unusual dietary habits and malabsorption may probably be the main cause of the condition, although neglect of oral hygiene during active phases of the disease might also be important. Increased attention has to be directed towards this problem. A strict oral hygiene should be recommended and the regular use of fluoride treatment appears to be justified in such a high risk group of patients. PMID:7158213

  5. Infective endocarditis in patients with hepatic diseases.

    PubMed

    Seminari, E; De Silvestri, A; Ravasio, V; Ludovisi, S; Utili, R; Petrosillo, N; Castelli, F; Bassetti, M; Barbaro, F; Grossi, P; Barzaghi, N; Rizzi, M; Minoli, L

    2016-02-01

    Few data have been published regarding the epidemiology and outcome of infective endocarditis (IE) in patients with chronic hepatic disease (CHD). A retrospective analysis of the Studio Endocarditi Italiano (SEI) database was performed to evaluate the epidemiology and outcome of CHD+ patients compared with CHD- patients. The diagnosis of IE was defined in accordance with the modified Duke criteria. Echocardiography, diagnosis, and treatment procedures were in accordance with current clinical practice. Among the 1722 observed episodes of IE, 300 (17.4 %) occurred in CHD+ patients. The cause of CHD mainly consisted of chronic viral infection. Staphylococcus aureus was the most common bacterial species in CHD+ patients; the frequency of other bacterial species (S. epidermidis, streptococci, and enterococci) were comparable among the two groups. The percentage of patients undergoing surgery for IE was 38.9 in CHD+ patients versus 43.7 in CHD- patients (p = 0.06). Complications were more common among CHD+ patients (77 % versus 65.3 %, p < 0.001); embolization (43.3 % versus 26.1 %, p < 0.001) and congestive heart failure (42 % versus 34.1 %, p = 0.01) were more frequent among CHD+ patients. Mortality was comparable (12.5 % in CHD- and 15 % in CHD+ patients). At multivariable analysis, factors associated with hospital-associated mortality were having an infection sustained by S. aureus, a prosthetic valve, diabetes and a neoplasia, and CHD. Being an intravenous drug user (IVDU) was a protective factor and was associated with a reduced death risk. CHD is a factor worsening the prognosis in patients with IE, in particular in patients for whom cardiac surgery was required.

  6. Dyslipidemia, kidney disease, and cardiovascular disease in diabetic patients.

    PubMed

    Chen, Szu-chi; Tseng, Chin-Hsiao

    2013-01-01

    This article reviews the relationship between dyslipidemia, chronic kidney disease, and cardiovascular diseases in patients with diabetes. Diabetes mellitus is associated with complications in the cardiovascular and renal system, and is increasing in prevalence worldwide. Modification of the multifactorial risk factors, in particular dyslipidemia, has been suggested to reduce the rates of diabetes-related complications. Dyslipidemia in diabetes is a condition that includes hypertriglyceridemia, low high-density lipoprotein levels, and increased small and dense low-density lipoprotein particles. This condition is associated with higher cardiovascular risk and mortality in diabetic patients. Current treatment guidelines focus on lowering the low-density lipoprotein cholesterol level; multiple trials have confirmed the cardiovascular benefits of treatment with statins. Chronic kidney disease also contributes to dyslipidemia, and dyslipidemia in turn is related to the occurrence and progression of diabetic nephropathy. Different patterns of dyslipidemia are associated with different stages of diabetic nephropathy. Some trials have shown that treatment with statins not only decreased the risk of cardiovascular events, but also delayed the progression of diabetic nephropathy. However, studies using statins as the sole treatment of hyperlipidemia in patients on dialysis have not shown benefits with respect to cardiovascular risk. Diabetic patients with nephropathy have a higher risk of cardiovascular events than those without nephropathy. The degree of albuminuria and the reduction in estimated glomerular filtration rate are also correlated with the risk of cardiovascular events. Treatment with angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers to reduce albuminuria in diabetic patients has been shown to decrease the risk of cardiovascular morbidity and mortality. PMID:24380085

  7. MRI in patients with inflammatory bowel disease

    PubMed Central

    Gee, Michael S.; Harisinghani, Mukesh G.

    2011-01-01

    Inflammatory bowel disease (IBD) affects approximately 1.4 million people in North America and, because of its typical early age of onset and episodic disease course, IBD patients often undergo numerous imaging studies over the course of their lifetimes. CT has become the standard imaging modality for assessment of IBD patients because of its widespread availability, rapid image acquisition, and ability to evaluate intraluminal and extraluminal disease. However, repetitive CT imaging has been associated with a significant ionizing radiation risk to patients, making MRI an appealing alternative IBD imaging modality. Pelvic MRI is currently the imaging gold standard for detecting perianal disease, while recent studies indicate that MRI bowel-directed techniques (enteroclysis, enterography, colonography) can accurately evaluate bowel inflammation in IBD. With recent technical innovations leading to faster and higher resolution body MRI, the role of MRI in IBD evaluation is likely to continue to expand. Future applications include surveillance imaging, detection of mural fibrosis, and early assessment of therapy response. PMID:21512607

  8. Strained layer Fabry-Perot device

    DOEpatents

    Brennan, Thomas M.; Fritz, Ian J.; Hammons, Burrell E.

    1994-01-01

    An asymmetric Fabry-Perot reflectance modulator (AFPM) consists of an active region between top and bottom mirrors, the bottom mirror being affixed to a substrate by a buffer layer. The active region comprises a strained-layer region having a bandgap and thickness chosen for resonance at the Fabry-Perot frequency. The mirrors are lattice matched to the active region, and the buffer layer is lattice matched to the mirror at the interface. The device operates at wavelengths of commercially available semiconductor lasers.

  9. Analysis of Fabry-Perot Velocimeter Records

    SciTech Connect

    Avara, G

    2001-08-03

    Program demonstration and user instructions are presented for FabryVB5. This computer program was created for use in analyzing Fabry-Perot interferometer records that detail the velocity time histories of fast moving surfaces. Graphical curves representing peak fringe positions and fiducial timing dots are extracted from a digitized film record or from a CCD digital image. An analysis is demonstrated on a sample velocimeter record along with some mathematical formula and routine operations. Routines used to analyze calibration records on streak camera distortions are illustrated in an appendix. This is a Microsoft Visual Basic{trademark} version for the PC.

  10. Sexual Therapy of Patients with Cardiovascular Disease

    PubMed Central

    Scalzi, Cynthia C.; Golden, Joshua S.; Loya, Fred

    1977-01-01

    Physical illness or disability inevitably has a damaging effect on sexual relationships. Physicians are usually unaware of the sexual consequences of illness on their patients, and lack experience in treating sexual dysfunctions. The report of treatment of a couple with serious cardiovascular disease illustrates the potential efficacy of brief sex therapy for improving the quality of a patient's life. If a primary physician lacks the skills to conduct sex therapy, he may collaborate with nonphysician therapists. The physician's knowledge of the physiological and psychological effects of a specific illness on his patient is essential to successful therapy. Often, simple education, encouragement or reassurance by the physician is enough to overcome the damaging effects of illness on a patient's sex life. PMID:613543

  11. PSYCHOSOMATIC ASPECTS IN PATIENTS WITH DERMATOLOGIC DISEASES.

    PubMed

    Tsintsadze, N; Beridze, L; Tsintsadze, N; Krichun, Y; Tsivadze, N; Tsintsadze, M

    2015-06-01

    The aim of our study was to find out the magnitude of anxiety and depression in our common dermatological patients and its correlation with age, sex. For this purpose, we used Hospital Anxiety and Depression Scale HADS. The psychometric validity of HADS has been established by validating the questionnaire against the structured psychiatric interviews. A study of anxiety and depression in patients with dermatologic diseases was conducted on the basis of outpatients department in 211 patients with dermatologic diseases; among them were 107 male and 104 female, aged 16 to 75 years. Among them were patients with Acne, Alopecia Areata, Psoriasis, Vitiligo, Neurodermatitis, Scabies, Eczema and Other diseases (Atopic Dermatitis, Chronic Urticaria, Lichen Planus, Herpes Zoster, Melasma, Warts and Etc.). Based on studies of patients reveals that 65.4% of them are anxiety, depression - 56.2%, both anxiety and depression in 24.7%, there figures higher than the dates of other authorizes. As a result of a direct link research risk disorder depressive spectrum with sex, age; in woman anxiety and depression occurs more frequently than men, and anxiety occurs more frequently in young age. Especially there are hight frequencies of manifestation of abuse in patients with Psoriasis (anxiety - 83.3%, depression - 69.4%, both - 38.8%), Eczema (anxiety - 73.3%, depression - 56.6%, both - 26.7%), Acne (anxiety - 78.4%, depression - 54%, both - 21.6%), Vitiligo (anxiety - 66.7%, depression - 60%, both - 33.3%). Our study noticed higher dates of anxiety and depression than the dates of other outhorizes. PMID:26087735

  12. PSYCHOSOMATIC ASPECTS IN PATIENTS WITH DERMATOLOGIC DISEASES.

    PubMed

    Tsintsadze, N; Beridze, L; Tsintsadze, N; Krichun, Y; Tsivadze, N; Tsintsadze, M

    2015-06-01

    The aim of our study was to find out the magnitude of anxiety and depression in our common dermatological patients and its correlation with age, sex. For this purpose, we used Hospital Anxiety and Depression Scale HADS. The psychometric validity of HADS has been established by validating the questionnaire against the structured psychiatric interviews. A study of anxiety and depression in patients with dermatologic diseases was conducted on the basis of outpatients department in 211 patients with dermatologic diseases; among them were 107 male and 104 female, aged 16 to 75 years. Among them were patients with Acne, Alopecia Areata, Psoriasis, Vitiligo, Neurodermatitis, Scabies, Eczema and Other diseases (Atopic Dermatitis, Chronic Urticaria, Lichen Planus, Herpes Zoster, Melasma, Warts and Etc.). Based on studies of patients reveals that 65.4% of them are anxiety, depression - 56.2%, both anxiety and depression in 24.7%, there figures higher than the dates of other authorizes. As a result of a direct link research risk disorder depressive spectrum with sex, age; in woman anxiety and depression occurs more frequently than men, and anxiety occurs more frequently in young age. Especially there are hight frequencies of manifestation of abuse in patients with Psoriasis (anxiety - 83.3%, depression - 69.4%, both - 38.8%), Eczema (anxiety - 73.3%, depression - 56.6%, both - 26.7%), Acne (anxiety - 78.4%, depression - 54%, both - 21.6%), Vitiligo (anxiety - 66.7%, depression - 60%, both - 33.3%). Our study noticed higher dates of anxiety and depression than the dates of other outhorizes.

  13. Foods for patients with celiac disease.

    PubMed Central

    Campbell, J. A.

    1982-01-01

    As a general rule patients with celiac disease must avoid five cereals--wheat rye, triticale, barley and oats. Very sensitive individuals must also avoid two products of these cereals--malt and hydrolyzed vegetable protein. Some less sensitive individuals may be able to tolerate barley and oats in small quantities. All other foods are acceptable, including the cereals corn, rice, buckwheat, millet and sorghum, as well as malt-flavored breakfast cereals. Wine, spirits, beer and ale are also acceptable unless otherwise contraindicated. Monosodium glutamate, other food additives and pharmaceutical preparations are also acceptable. The ingredients of prepackaged processed foods are listed on the labels. Patients with celiac disease must examine labels to ensure that they avoid the harmful cereals. With appropriate precautions they need not be concerned about eating away from home. PMID:7139445

  14. Behavioral persistence deficit in Parkinson's disease patients.

    PubMed

    Schneider, J S

    2007-03-01

    The present study was performed to examine the degree to which decreased task persistence may contribute to deficits in the ability of Parkinson's disease (PD) patients to perform a problem solving task. Patients with mild/moderate PD performed a computerized Tower of Hanoi task in which they planned and verbalized moves to solve the puzzle but did not need to produce a limb motor response. All patients were tested at least 14 h off medication. As expected from previous studies of planning abilities in PD, patients had significant problems performing this task and accuracy decreased specifically when patients were presented with the most difficult puzzles in the sequence. PD patients solved fewer of the most difficult puzzles than did control subjects, but also made significantly fewer attempts to solve those puzzles than controls. These results suggest that PD patients not only have planning and problem solving deficits as have been documented previously, but that at least part of this and perhaps other cognitive performance problems may result from difficulty in maintaining adequate mental effort to successfully complete difficult tasks. PMID:17355551

  15. [Vaccinations in patients with autoimmune diseases].

    PubMed

    Bühler, Silja; Hatz, Christoph

    2016-01-01

    The number of individuals with autoimmune diseases treated with immunosuppressive drugs is increasing steadily. The variety of immunosuppressive drugs and in particular biological therapies is also rising. The autoimmune disease itself as well as the immunosuppressive therapy increases the risk of infection in this population. Particularly the risk of vaccine-preventable infections is elevated. Thus, preventing infections by the means of vaccination is of utmost importance. The Division of Infectious Diseases of the Epidemiology, Biostatistics and Prevention Institute, University of Zurich, performed a literature search on the topic of vaccinations in patients with autoimmune diseases upon request by the Swiss Federal Commission for Vaccination Issues. Overall, data are scarce. The following main points were retrieved from the literature: Inactivated vaccines are safe, but their immunogenicity may be reduced under immunosuppressive therapy. In addition to the generally recommended basic vaccinations, specific vaccinations, such as influenza and pneumococcal vaccination are indicated in these patient groups. Live vaccines are generally contraindicated under immunosuppressive therapy due to safety concerns. However, specific exceptions apply. Furthermore, certain time intervals for the administration of live vaccines after pausing or ceasing an immunosuppressive therapy should be respected. PMID:27268452

  16. Cardiac disease after radiation therapy for Hodgkin's disease: analysis of 48 patients

    SciTech Connect

    Applefeld, M.M.; Wiernik, P.H.

    1983-06-01

    Occult or overt but delayed cardiac disease after thoracic radiotherapy for Hodgkin's disease may be common. Detailed cardiac evaluations were performed in 48 patients with Hodgkin's disease at risk a mean of 97 months after radiotherapy. The study protocol included echocardiography, gated radionuclide ventriculography, and cardiac catheterization. Cardiac disease was found in 46 patients (96%) and included constrictive or occult constrictive pericarditis (24 patients), an abnormal hemodynamic response to a fluid challenge (14 patients), coronary artery disease (6 patients), and left ventricular dysfunction (2 patients). Most patients (53%) had normal echocardiograms. Gated blood pool radionuclide angiocardiography was performed in 42 patients. Excluding patients with occlusive coronary artery disease, the left ventricular ejection fraction at rest (mean 59%) and during exercise (mean 69%) was within normal limits. Thus (1) delayed cardiac disease after radiotherapy is common, (2) chronic pericardial disorders are the most frequent manifestations of this disease, and (3) the prognosis for patients who have radiation-induced cardiac disease is generally favorable.

  17. [Aspirin treatment for patients with Kawasaki disease].

    PubMed

    Hamada, Hiromichi

    2014-09-01

    Aspirin was first used for patients with Kawasaki disease(KD) at 1970s. Favorable outcomes of KD patients treated with aspirin were reported in 1970-80s and now it is one of the standard therapeutic agents for KD. Its anti-inflammation effects suppress vascular wall inflammation of KD at acute phase. In addition, its antiplatelet effects heal endothelial dysfunction and prevent clot formation in coronary arteries at sub-acute and convalescent phase. Long-term dosage for patients with coronary artery aneurysms(CAA) is also important, however, there are few evidences of risk-benefit assessment for its long-term use especially for middle-aged and senior adults with KD and CAA. PMID:25518411

  18. [Anesthetic management for patients with mitochondrial disease].

    PubMed

    Imai, Yousuke; Yamada, Yoshitsugu

    2014-01-01

    Mitochondrial diseases are caused by a decrease in ATP production due to mutations of mitochondrial or mitochondria-related nuclear DNA. Their effects are likely to appear in tissues with a high energy demand, including skeletal muscle, nervous, and cardiovascular systems. Cardiac manifestations of mitochondrial diseases can be divided into cardiomyopathies, which are primarily hypertrophic and dilated cardiomyopathies, and electropathies, which are primarily conduction system disease and ventricular pre-excitation. The first principle of anesthesia for patients with mitochondrial diseases is to avoid any additional burden on the already declined metabolic functions. Appropriate oxygenation, minimization of the oxygen demand, stable cardiovascular management, maintenance of a normal blood glucose level and body temperature, and effective perioperative pain control are of importance. Most anesthetics have been reported to reduce mitochondrial functions, and although enhancement of the sensitivity and prolongation of the duration of action have been reported, they are clinically used with no major problems. Detailed preoperative evaluation of the disease condition and careful intraoperative monitoring are important for the prevention of perioperative complications.

  19. Assessing comorbidity in patients with Parkinson's disease.

    PubMed

    Visser, Martine; Marinus, Johan; van Hilten, Jacobus J; Schipper, Ruth G B; Stiggelbout, Anne M

    2004-07-01

    The aim of this study was to assess the accuracy of an interview-based assessment of comorbidity, in patients with Parkinson's disease (PD). The Cumulative Illness Rating Scale-Geriatric (CIRS-G) was completed (1) in an interview with 31 PD patients and their caregivers, and (2) by reviewing the patient's medical charts from their general practitioners. Based on the interview, all patients had some comorbidity, 84% had one or more moderate comorbid diseases. The most frequently affected organ systems were "lower gastrointestinal" and "genitourinary". The mean +/- SD total score of the interview-based (chart-based) CIRS-G was 6.9 +/- 3.8 (7.6 +/- 3.5) with a mean of 4.3 +/- 1.9 (5.0 +/- 1.9) affected organ systems and a mean of 2.1 +/- 1.7 (2.3 +/- 1.6) organ systems with at least moderate comorbidity per patient. The agreement (intraclass correlation coefficients) between the interview-based and chart-based assessments for the six summary scores ranged from 0.69 to 0.81. The agreement for the 14 organ systems ranged from 0.13 to 1.00 (weighted kappa); 12 had a K(w) above 0.40 (moderate agreement). The comorbidity summary scores had a moderate correlation with age and disability. The interview-based assessment of the CIRS-G is easy to apply and is an accurate method to assess comorbidity in patients with PD.

  20. Auditory Dysfunction in Patients with Cerebrovascular Disease

    PubMed Central

    2014-01-01

    Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD) is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked. PMID:25401133

  1. Elderly patients and inflammatory bowel disease

    PubMed Central

    Nimmons, Danielle; Limdi, Jimmy K

    2016-01-01

    The incidence and prevalence of inflammatory bowel disease (IBD) is increasing globally. Coupled with an ageing population, the number of older patients with IBD is set to increase. The clinical features and therapeutic options in young and elderly patients are comparable but there are some significant differences. The wide differential diagnosis of IBD in elderly patients may result in a delay in diagnosis. The relative dearth of data specific to elderly IBD patients often resulting from their exclusion from pivotal clinical trials and the lack of consensus guidelines have made clinical decisions somewhat challenging. In addition, age specific concerns such as co-morbidity; loco-motor and cognitive function, poly-pharmacy and its consequences need to be taken into account. In applying modern treatment paradigms to the elderly, the clinician must consider the potential for more pronounced adverse effects in this vulnerable group and set appropriate boundaries maximising benefit and minimising harm. Meanwhile, clinicians need to make personalised decisions but as evidence based as possible in the holistic, considered and optimal management of IBD in elderly patients. In this review we will cover the clinical features and therapeutic options of IBD in the elderly; as well as addressing common questions and challenges posed by its management. PMID:26855812

  2. Ambiguous idiom processing in Parkinson's disease patients.

    PubMed

    Papagno, Costanza; Mattavelli, Giulia; Cattaneo, Zaira; Romito, Luigi; Albanese, Alberto

    2013-01-01

    Patients affected by Parkinson's disease (PD) can provide crucial information about the involvement of the motor system and prefrontal cortex in processing idioms including action verbs, since dopamine modulates the activity of these structures, and, consequently, different levels of this neurotransmitter can induce different cognitive impairments. In order to investigate the ability to process ambiguous idioms containing an action verb in patients, we asked 15 PD patients, in both OFF- and ON-phases, and 15 healthy matched participants to judge the plausibility of literal and idiomatic sentences, each presented at a self-paced rate. Patients in OFF-phase were faster in reading idiomatic than literal sentences, supporting the view that the motor system is not involved in online idiom processing. However, patients during OFF-phase were impaired in judging the plausibility of idiomatic ambiguous sentences, possibly due to the reduction of dopamine in prefrontal regions. The involvement of the motor system was evident in the ON-phase for literal sentences, suggesting that motor activation is strictly dependent on the context. PMID:24479736

  3. Cardiovascular diseases among patients with schizophrenia.

    PubMed

    Azad, Muhammad Chanchal; Shoesmith, Wendy Diana; Al Mamun, Mohammad; Abdullah, Ahmad Faris; Naing, Daw Khin Saw; Phanindranath, Mahadasa; Turin, Tanvir Chowdhury

    2016-02-01

    The presence of comorbid physical illnesses especially, cardiovascular diseases (CVD) in schizophrenia is a growing area of concern in recent years. In order to reduce disease burden, to improve quality of life and to provide holistic care, it is important to know about the relationship between schizophrenia and CVD. The objective of this review is to explore the extent of CVD problems, relevant risk factors and potential measures for early diagnosis and prevention of CVD among patients with schizophrenia. Worldwide studies show that patients with schizophrenia have a higher mortality and lower life expectancy than the general population. CVD is the leading cause of increased mortality in schizophrenia. Common CVD risk factors in schizophrenia include metabolic syndrome, sedentary behaviour, tobacco smoking, effects of antipsychotics, long chain omega-3 fatty acid deficiency and shared genetics between CVD and schizophrenia. The potential methods for early detection and prevention of CVD in schizophrenia are also discussed. Though the patients with schizophrenia form a high risk group for CVD, consensus guidelines for early detection and prevention of CVD in schizophrenia are lacking. Comorbidity of CVD in schizophrenia needs more serious attention by clinicians and researchers. PMID:26957335

  4. Cardiovascular diseases among patients with schizophrenia.

    PubMed

    Azad, Muhammad Chanchal; Shoesmith, Wendy Diana; Al Mamun, Mohammad; Abdullah, Ahmad Faris; Naing, Daw Khin Saw; Phanindranath, Mahadasa; Turin, Tanvir Chowdhury

    2016-02-01

    The presence of comorbid physical illnesses especially, cardiovascular diseases (CVD) in schizophrenia is a growing area of concern in recent years. In order to reduce disease burden, to improve quality of life and to provide holistic care, it is important to know about the relationship between schizophrenia and CVD. The objective of this review is to explore the extent of CVD problems, relevant risk factors and potential measures for early diagnosis and prevention of CVD among patients with schizophrenia. Worldwide studies show that patients with schizophrenia have a higher mortality and lower life expectancy than the general population. CVD is the leading cause of increased mortality in schizophrenia. Common CVD risk factors in schizophrenia include metabolic syndrome, sedentary behaviour, tobacco smoking, effects of antipsychotics, long chain omega-3 fatty acid deficiency and shared genetics between CVD and schizophrenia. The potential methods for early detection and prevention of CVD in schizophrenia are also discussed. Though the patients with schizophrenia form a high risk group for CVD, consensus guidelines for early detection and prevention of CVD in schizophrenia are lacking. Comorbidity of CVD in schizophrenia needs more serious attention by clinicians and researchers.

  5. Lower Muscle Endurance in Patients with Alcoholic Liver Disease

    ERIC Educational Resources Information Center

    Andersen, Henning; Aagaard, Niels K.; Jakobsen, Johannes; Dorup, Inge; Vilstrup, Hendrik

    2012-01-01

    Patients with alcoholic liver disease often complain of restricted physical capacity, which could be due to decreased muscle endurance. The aim of this study was to assess the muscular endurance in patients with alcoholic liver disease. In a cross sectional study, 24 patients with alcoholic liver disease and 22 controls were evaluated using…

  6. Incidence of coronary artery disease in patients with valvular heart disease.

    PubMed Central

    Morrison, G W; Thomas, R D; Grimmer, S F; Silverton, P N; Smith, D R

    1980-01-01

    The case notes, cardiac catheterisation data, and coronary arteriograms of 239 patients investigated for valvular heart disease during a five year period were reviewed. Angina present in 13 of 95 patients with isolated mitral valve disease, 43 of 90 patients with isolated aortic valve disease, and 18 of 54 patients with combined mitral and aortic valve disease. Significant coronary artery disease was present in 85 per cent of patients with mitral valve disease and angina, but in only 33 per cent of patients with aortic valve disease and angina. Patients with no chest pain still had a high incidence of coronary artery disease, significant coronary obstruction being present in 22 per cent with mitral valve disease, 22 per cent with aortic valve disease, and 11 per cent with combine mitral and aortic valve disease. Several possible clinical markers of coronary artery disease were examined but none was found to be of practical help. There was, however, a significant inverse relation between severity of coronary artery disease and severity of valve disease in patients with aortic valve disease. Asymptomatic coronary artery disease is not uncommon in patients with valvular heart disease and if it is policy to perform coronary artery bypass grafting in such patients, routine coronary arteriography must be part of the preoperative investigation. PMID:7459146

  7. Disease-Related Knowledge and Information Needs Among Inflammatory Bowel Disease Patients in Korea

    PubMed Central

    Yoo, Yang-Sook; Cha, Kyeong-Sook

    2015-01-01

    The aim of this study was to identify disease-related knowledge and information needs of patients with inflammatory bowel disease. The 313 patients (Crohn disease: n = 169, colitis: n = 144) presenting to an outpatient gastroenterology clinic of a tertiary care hospital in Seoul, Republic of Korea, were scored on their knowledge of Crohn disease and colitis and their information needs were assessed in the questionnaire. Patients with Crohn disease obtained a higher mean knowledge score than patients with colitis. The patients with Crohn disease had significantly higher scores about complications than patients with colitis. The patients with Crohn disease showed significantly higher mean scores relating to the patients' information needs than patients with colitis. The favorite topics of information needed were disease, medication, and diagnosis/operations. The patients with Crohn disease wanted more information than patients with colitis about medications used for treatment, daily life, and pregnancy. The effectiveness of the training and education given to patients can be maximized in this education system when the information about disease and medications for Crohn disease patients or information about disease and diet for colitis patients is primarily provided according to the degree of the patients' need for information. PMID:25159269

  8. Thyroid diseases in patients with acromegaly

    PubMed Central

    Tarach, Jerzy Stanisław; Kurowska, Maria; Nowakowski, Andrzej

    2013-01-01

    Acromegaly often involves the presence of different pathologies of the thyroid gland. Long-lasting stimulation of the follicular epithelium by growth hormone (GH) and insulin-like growth factor 1 (IGF-1) can cause disorders in thyroid function, an increase in its mass and the development of goitre. Acromegalic patients present most frequently with non-toxic multinodular goitre. Nodules are more prevalent in patients with active acromegaly. It has been suggested that then thyroid size increases and it can be reduced through treatment with somatostatin analogues. The relationship between thyroid volume and the level of IGF-1 and the duration of the disease is unclear. Each acromegalic patient requires a hormonal and imaging evaluation of the thyroid when the diagnosis is made, and an accurate evaluation during further observation and treatment. Although the data concerning the co-occurrence of acromegaly and thyroid cancer still remain controversial, it is particularly important to diagnose the patient early and to rule out thyroid cancer. PMID:25276172

  9. Spinal Surgery Complications and Failures in Patients with Parkinsons Disease.

    PubMed

    Sapkas, George S; Mavrogenis, Andreas F; Papastathis, Elias; Tsiavos, Kostas; Igoumenou, Vasilios; Megaloikonomos, Panayiotis D; Galanopoulos, Ioannis; Soultanis, Konstantinos; Papadopoulos, Elias C; Papagelopoulos, Panayiotis J

    2016-01-01

    Parkinson's disease is a degenerative disorder of the central nervous system affecting the substantia nigra in the midbrain. It accounts for 1.5% of the population in Europe over 60 years of age. Recent advances in the medical treatment of Parkinson's disease have improved the quality of life and life expectancy of the patients. However, it remains a debilitating disease. Spinal disorders are frequent in these patients, and as the population ages, more patients with Parkinson's disease are expected to require spinal surgery. Spinal surgery in patients with Parkinson's disease has been associated with an exceptionally high rate of complications; failures and reoperations are common, and patient outcomes are dismal.

  10. Famous Stone Patients and Their Disease

    NASA Astrophysics Data System (ADS)

    Moran, Michael E.

    2007-04-01

    The fact that stone patients have endured much throughout the ages and that prior to our current era, when the ultimate horror, "being cut for the stone" was the only alternative to the repeated episodes of colic, should be recalled from time to time. Urolithiasis has affected humanity throughout the ages and has been indiscriminate to those lives it touched. A full accounting of those who have suffered and recorded their agonies is beyond the scope of this investigation; however, even a partial accounting is valuable for present day physicians who care for those with stone disease. For the present work, the historical accounts of stone disease literature were scrutinized for individual sufferers who could be cross-referenced from other sources as legitimately afflicted by stones. Only those patients that could be documented and were (or are) well known were included, because the internet is now a verdant repository of thousands of "not so well knowns." Reliable historical data was found for a variety of persons from the pre-Christian era to the present, including those remembered as philosophers and scientists, physicians, clergy, leaders and rulers, entertainers, athletes and fictitious/Hollywood-type individuals. Verified accounts of famous stone formers were chosen for this paper, and are presented in chronological order. The list of urolithiasis sufferers presented here is undoubtedly incomplete, but it is not through lack of trying that they are missing. Most often, the suffering do so silently, and that is always allowed.

  11. Outcomes of Bowel Resection in Patients with Crohn's Disease.

    PubMed

    Moghadamyeghaneh, Zhobin; Carmichael, Joseph C; Mills, Steven D; Pigazzi, Alessio; Stamos, Michael J

    2015-10-01

    There is limited data regarding outcomes of bowel resection in patients with Crohn's disease. We sought to investigate complications of such patients after bowel resection. The Nationwide Inpatient Sample databases were used to examine the clinical data of Crohn's patients who underwent bowel resection during 2002 to 2012. Multivariate regression analysis was performed to investigate outcomes of such patients. We sampled a total of 443,950 patients admitted with the diagnosis of Crohn's disease. Of these, 20.5 per cent had bowel resection. Among patients who had bowel resection, 51 per cent had small bowel Crohn's disease, 19.4 per cent had large bowel Crohn's disease, and 29.6 per cent had both large and small bowel Crohn's disease. Patients with large bowel disease had higher mortality risk compared with small bowel disease [1.8% vs 1%, adjusted odds ratio (AOR): 2.42, P < 0.01]. Risks of postoperative renal failure (AOR: 1.56, P < 0.01) and respiratory failure (AOR: 1.77, P < 0.01) were higher in colonic disease compared with small bowel disease but postoperative enteric fistula was significantly higher in patients with small bowel Crohn's disease (AOR: 1.90, P < 0.01). Of the patients admitted with the diagnosis of Crohn's disease, 20.5 per cent underwent bowel resection during 2002 to 2012. Although colonic disease has a higher mortality risk, small bowel disease has a higher risk of postoperative fistula.

  12. Nutrition in adult patients with inflammatory bowel disease.

    PubMed

    Hebuterne, Xavier; Filippi, Jerome; Schneider, Stephane M

    2014-01-01

    Seventy five percent of hospitalized patients with Crohn's disease suffer from malnutrition. One third of Crohn's disease patients have a body mass index below 20. Sixty percent of Crohn's disease patients have sarcopenia. However some inflammatory bowel disease (IBD) patients are obese or suffer from sarcopenic-obesity. IBD patients have many vitamin and nutrient deficiencies, which can lead to important consequences such as hyperhomocysteinemia, which is associated with a higher risk of thromboembolic disease. Nutritional deficiencies in IBD patients are the result of insufficient intake, malabsorption and protein-losing enteropathy as well as metabolic disturbances directly induced by the chronic disease and its treatments, in particular corticosteroids. Screening for nutritional deficiencies in chronic disease patients is warranted. Managing the deficiencies involves simple nutritional guidelines, vitamin supplements, and nutritional support in the worst cases. PMID:25266810

  13. Extrinsic Fabry-Perot ultrasonic detector

    NASA Astrophysics Data System (ADS)

    Kidwell, J. J.; Berthold, John W., III

    1996-10-01

    We characterized the performance of a commercial fiber optic extrinsic Fabry-Perot interferometer for use as an ultrasonic sensor, and compared the performance with a standard lead zirconate titanate (PZT) detector. The interferometer was unstabilized. The results showed that the fiber sensor was about 12 times less sensitive than the PZT detector. Ultrasonic frequency response near 100 kHz was demonstrated. We describe the design of the fiber sensor, the details of the tests performed, and potential applications.

  14. The Expert Patient and Chronic Respiratory Diseases

    PubMed Central

    Boulet, Louis-Philippe

    2016-01-01

    The concept of “expert patient” has been developed in the last two decades to define a patient who has a significant knowledge of his/her disease and treatment in addition to self-management skills. However, this concept has evolved over the last years, and these patients are now considered, not only to be more efficient in the management of their own condition and communicating effectively with health professionals, but to also act as educators for other patients and as resources for the last, provide feedback on care delivery, and be involved in the production and implementation of practice guidelines, as well as in the development and conduct of research initiatives. There are some barriers, however, to the integration of this new contributor to the health care team, and specific requirements need to be considered for an individual to be considered as an expert. This new player has, however, a potentially important role to improve current care, particularly in respiratory health. PMID:27445572

  15. Renal co-morbidity in patients with rheumatic diseases

    PubMed Central

    2011-01-01

    Renal co-morbidity is common in patients with rheumatic disease based on regular assessment of serum and urine parameters of renal function. When patients present with both arthritis and renal abnormalities the following questions have to be addressed. Is kidney disease a complication of rheumatic disease or its management, or are they both manifestations of a single systemic autoimmune disease? Is rheumatic disease a complication of kidney disease and its management? How do rheumatic disease and kidney disease affect each other even when they are unrelated? The present review provides an overview of how to address these questions in daily practice. PMID:21722341

  16. Life style modification for patients with ischemic heart disease.

    PubMed

    Mahalingam, V

    2013-01-01

    With a view to assess the effectiveness of lifestyle modification in patients with ischemic heart disease, a quasi-experimental study with quantitative approach was undertaken on 60 patients of ischemic heart disease. Purposive sampling technique was used in selecting the patients. The results showed that educating the patients about cessation of smoking, taking proper diet, anxiety reduction and counselling helped in preventing the progression of ischaemic heart disease.

  17. An Archetype Semi-Ring Fabry-Perot (SRFP) Resonator

    NASA Technical Reports Server (NTRS)

    Taghavi-Larigani, Shervin; VanZyl, Jakob

    2009-01-01

    We introduce and demonstrate the generation of a novel resonator, termed Semi-Ring Fabry-Perot (SRFP), that exhibits unique features, such as, its use of one plane mirror, allowing the SRFP to be easily fabricated as a symmetrical device. In addition to its unique features, it exhibits advantages of ring and Fabry-Perot resonators: 1) compared to a ring resonator that only allows a transmitted intensity, the Semi-Ring Fabry-Perot (SRFP) supports standing waves, allowing both a reflected and transmitted intensity; 2) the reflected light spectrum of the SRFP resonator is much narrower than similar Fabry-Perot, implying higher finesse.

  18. Striped Fabry-Perots: Improved efficiency for velocimetry

    SciTech Connect

    McMillan, C.; Steinmetz, L.

    1990-07-01

    Removing a narrow stripe of the reflective coating from the input mirror of a Fabry-Perot interferometer can dramatically increase the amount of light transmitted through the system; we have observed gains in excess of 50 when we compare a conventional Fabry-Perot with the striped Fabry-Perot under similar lighting conditions. The stripe affects the distribution of light in the Fabry-Perot peaks causing them to be lower in the center of the pattern. We examine this distribution, and discuss its application in analyzing velocities. 6 refs., 6 figs., 1 tab.

  19. Fasciculations in human hereditary disease.

    PubMed

    Finsterer, Josef; Aliyev, Rahim

    2015-06-01

    Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac's syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fasciculations remains unknown, they are called benign. Systematically reviewing the literature about fasciculations in hereditary disease shows that fasciculations can be a phenotypic feature in bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, or hereditary neuropathy. Additionally, fasciculations have been reported in familial amyloidosis, spinocerebellar ataxias, Huntington's disease, Rett syndrome, central nervous system disease due to L1-cell adhesion molecule (L1CAM) mutations, Fabry's disease, or Gerstmann-Sträussler disease. Rarely, fasciculations may be a phenotypic feature in patients with mitochondrial disorders or other myopathies. Fasciculations are part of the phenotype in much more genetic disorders than commonly assumed. Fasciculations not only occur in motor neuron disease, but also in hereditary neuropathy, spinocerebellar ataxia, GM2-gangliosidosis, Huntington's disease, Rett syndrome, Fabry's disease, Gerstmann-Sträussler disease, mitochondrial disorders, or muscular dystrophies. PMID:25073774

  20. Exercise manual for liver disease patients

    PubMed Central

    Limongi, Vivian; Dos Santos, Daniele Costa; de Oliveira da Silva, Aurea Maria; Boin, Ilka de Fátima Santana Ferreira; Stucchi, Raquel Silveira Bello

    2016-01-01

    AIM: To increase inspiratory muscle strength and improve the quality of life of candidates for liver transplantation. METHODS: Twenty-three candidates for liver transplantation participated in the control group and 14 made up the intervention group. The control group consisted of 18 men and 5 women, body mass index (BMI) 27.3 ± 4.5 kg/m2 and Model for End-Stage Liver Disease (MELD) 18.2 ± 6.1. The intervention group consisted of 11 men and 3 women, BMI 28.6 ± 5.4 kg/m2 and MELD 18 ± 4.5. The presence or absence of ascites was identified in the first patient evaluation and after three months. We evaluated maximal inspiratory pressure (MIP) and maximal expiratory pressure, spirometry, root mean square (RMS) of diaphragm and rectus abdominis, and the quality of life. The exercises were performed daily by patients at home for three months and were supervised at distance monthly. The manual consisted of diaphragmatic breathing exercises, diaphragmatic isometric exercise, Threshold IMT®, lifting upper limbs with a bat and strengthening the abdomen. RESULTS: There was significant difference (P = 0.01) between the first (initial) and the third month (final) MIP in the control group and in the intervention group, but there was no difference (P = 0.45) between the groups. The RMS of the diaphragm was lower (P = 0.001) and the functional capacity was higher (P = 0.006) in the intervention group compared to the control. The general health and mental health domains received higher scores after three months in the control group (P = 0.01) and the intervention group (P = 0.004), but there was no significant difference between them. The comparison between the presence of initial ascites with the presence of ascites was performed after three months in the control group (P = 0.083) and intervention group (P = 0.31). There was no significant difference, in relation to the presence of ascites after three months between groups (P = 0.21). In the intervention group, patients with

  1. Technology innovation for patients with kidney disease.

    PubMed

    Mitsides, Nicos; Keane, David F; Lindley, Elizabeth; Mitra, Sandip

    2014-01-01

    The loss of kidney function is a life-changing event leading to life-long dependence on healthcare. Around 5000 people are diagnosed with kidney failure every year. Historically, technology in renal medicine has been employed for replacement therapies. Recently, a lot of emphasis has been placed on technologies that aid early identification and prevent progression of kidney disease, while at the same time empowering affected individuals to gain control over their chronic illness. There is a shift in diversity of technology development, driven by collaborative innovation initiatives such the National Institute's for Health Research Healthcare Technology Co-operative for Devices for Dignity. This has seen the emergence of the patient as a key figure in designing technologies that are fit for purpose, while business involvement has ensured uptake and sustainability of these developments. An embodiment of this approach is the first successful Small Business Research Initiative in the field of renal medicine in the UK.

  2. Managing patients for zoonotic disease in hospitals

    PubMed Central

    Warwick, Clifford; Corning, Susan

    2013-01-01

    Zoonoses involve infections and infestations transmissible from animals to humans. Zoonoses are a major global threat. Exposure to zoonotic pathogens exists in various settings including encroachment on nature; foreign travel; pet keeping; bushmeat consumption; attendance at zoological parks, petting zoos, school ‘animal contact experiences’, wildlife markets, circuses, and domesticated and exotic animal farms. Under-ascertainment is believed to be common and the frequency of some zoonotic disease appears to be increasing. Zoonoses include direct, indirect and aerosolized transmission. Improved awareness of zoonoses in the hospital environment may be important to the growing need for prevention and control. We reviewed relevant literature for the years 2000 to present and identified a significant need for the promotion of awareness and management of zoonoses in the hospital environment. This article provides a new decision-tree, as well as staff and patient guidance on the prevention and control of zoonoses associated with hospitals. PMID:24040497

  3. Diurnal hypercapnia in patients with neuromuscular disease.

    PubMed

    Panitch, Howard B

    2010-03-01

    Subjects with progressive neuromuscular diseases undergo a typical sequence of respiratory compromise, leading from normal unassisted gas exchange to nocturnal hypoventilation with normal daytime gas exchange, and eventually to respiratory failure requiring continuous ventilatory support. Several different abnormalities in respiratory pump function have been described to explain the development of respiratory failure in subjects with neuromuscular weakness. Early in the progression of respiratory failure, the use of nocturnal assisted ventilation can reverse both night- and day-time hypercapnia. Eventually, however, diurnal hypercapnia will persist despite correction of nocturnal hypoventilation. The likely beneficial effects of mechanical ventilatory support include resting fatigue-prone respiratory muscles and resetting of the central chemoreceptors to PaCO(2). Recent experience shows that select patients who require daytime ventilation can be supported with non-invasive ventilation continuously to correct gas exchange abnormalities while avoiding detrimental aspects of tracheostomy placement.

  4. Approach to patients with refractory coeliac disease

    PubMed Central

    Nasr, Ikram; Nasr, Iman; Campling, Hannah; Ciclitira, Paul J.

    2016-01-01

    Refractory coeliac disease (RCD) is a recognised complication, albeit very rare, of coeliac disease (CD). This condition is described when individuals with CD continue to experience enteropathy and subsequent or ongoing malabsorption despite strict adherence to a diet devoid of gluten for at least 12 months and when all other causes mimicking this condition are excluded. Depending on the T-cell morphology and T-cell receptor (TCR) clonality at the β/γ loci, RCD can be subdivided into type 1 (normal intra-epithelial lymphocyte morphology, polyclonal TCR population) and type 2 (aberrant IELs with clonal TCR). It is important to differentiate between the two types as type 1 has an 80% survival rate and is managed with strict nutritional and pharmacological management. RCD type 2 on the other hand has a 5-year mortality of 50% and can be complicated by ulcerative jejunitis or enteropathy-associated T-cell lymphoma (EATL). Management of RCD type 2 has challenged many experts, and different treatment approaches have been adopted with variable results. Some of these treatments include immunomodulation with azathioprine and steroids, methotrexate, cyclosporine, alemtuzumab (an anti CD-52 monoclonal antibody), and cladribine or fludarabine sometimes with autologous stem cell transplantation. In this article, we summarise the management approach to patients with RCD type 2. PMID:27803799

  5. Thyroid Disease in the Older Patient

    MedlinePlus

    ... these patients, without treatment unless they are symptomatic. HYPOTHYROIDISM IN THE OLDER PATIENT Hypothyroidism is very common ... is given. TREATMENT OF THE OLDER PATIENT WITH HYPOTHYROIDISM As with the younger patient, pure synthetic thyroxine ( ...

  6. International Registry for Patients With Castleman Disease

    ClinicalTrials.gov

    2016-10-21

    Castleman Disease; Castleman's Disease; Giant Lymph Node Hyperplasia; Angiofollicular Lymph Hyperplasia; Angiofollicular Lymph Node Hyperplasia; Angiofollicular Lymphoid Hyperplasia; GLNH; Hyperplasia, Giant Lymph Node; Lymph Node Hyperplasia, Giant

  7. Cardiovascular disease and cognitive function in maintenance hemodialysis patients

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular disease (CVD) and cognitive impairment are common in dialysis patients. Given the proposed role of microvascular disease on cognitive function, particularly cognitive domains that incorporate executive functions, we hypothesized that prevalent systemic CVD would be associated with wor...

  8. Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.

    PubMed

    Meng, Xing-Li; Day, Taniqua S; McNeill, Nathan; Ashcraft, Paula; Frischmuth, Thomas; Cheng, Seng H; Liu, Zhi-Ping; Shen, Jin-Song; Schiffmann, Raphael

    2016-05-01

    Fabry disease is caused by deficient activity of α-galactosidase A and subsequent intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3). Vascular endothelial cells may play important roles in disease pathogenesis, and are one of the main target cell types in therapeutic interventions. In this study, we generated immortalized aortic endothelial cell lines from a mouse model of Fabry disease. These cells retained endothelial cell-specific markers and functions. Gb3 expression level in one of these clones (referred to as FMEC2) was highly susceptible to culture media, and appeared to be regulated by glucosylceramide synthase. Results also showed that Gb3 could be upregulated by hydrocortisone. FMEC2 express the mannose 6-phosphate receptor and sortilin but not the mannose receptor. Uptake studies suggested that sortilin plays a role in the binding and internalization of mammalian cell-produced α-galactosidase A. Moss-aGal (a plant-made enzyme) was endocytosed by FMEC2 via a receptor other than the aforementioned receptors. In conclusion, this study suggests that glucosylceramide synthase and hydrocortisone may play important roles in modulating Gb3 levels in Fabry mouse aortic endothelial cells, and that endocytosis of recombinant α-galactosidase A involves a combination of multiple receptors depending on the properties of the enzyme. PMID:26960552

  9. Assessment of visual impairment in patients with Alzheimer's disease.

    PubMed

    Sadun, A A; Borchert, M; DeVita, E; Hinton, D R; Bassi, C J

    1987-08-15

    We examined five patients with Alzheimer's disease who complained of poor vision. Two patients had mild Alzheimer's disease; they complained of problems with reading and of "bumping into things," yet both had normal visual acuities. One patient with moderate Alzheimer's disease had abnormal eye movements, visual-evoked potentials, and contrast sensitivity. The other two patients had severe Alzheimer's disease. Despite difficulties in performing the examination, we were able to see moderate impairments in visual acuity and visual fields, as well as marked dyschromatopsia, severe deficits in contrast sensitivity, and markedly abnormal eye movements and visual-evoked potentials.

  10. An economic Fabry-Perot wavelength reference

    NASA Astrophysics Data System (ADS)

    Fżrész, Gábor; Glenday, Alex; Latham, Christian

    2014-07-01

    Precision radial velocity (PRV) measurements are key in studying exoplanets, and so are wavelength calibrators in PRV instruments. ThAr lamps offer an affordable but somewhat limited solution for the visible passband. Laser frequency combs are ideal calibrators, except the (still) narrow wavelength coverage and large price tag. White light Fabry-Perot (FP) calibrators offer frequency-comb like properties in a more affordable and less complicated package1. Using a commercial solid FP etalon and off-the shelf components we have constructed an economic FP calibrator suitable for observatories on a smaller budget.

  11. Ultrasonographic imaging of inflammatory bowel disease in pediatric patients.

    PubMed

    Chiorean, Liliana; Schreiber-Dietrich, Dagmar; Braden, Barbara; Cui, Xin-Wu; Buchhorn, Reiner; Chang, Jian-Min; Dietrich, Christoph F

    2015-05-01

    Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases in pediatric patients. Choosing the optimal imaging modality for the assessment of gastrointestinal disease in pediatric patients can be challenging. The invasiveness and patient acceptance, the radiation exposure and the quality performance of the diagnostic test need to be considered. By reviewing the literature regarding imaging in inflammatory bowel disease the value of ultrasound in the clinical management of pediatric patients is highlighted. Transabdominal ultrasound is a useful, noninvasive method for the initial diagnosis of IBD in children; it also provides guidance for therapeutic decisions and helps to characterize and predict the course of the disease in individual patients. Ultrasound techniques including color Doppler imaging and contrast-enhanced ultrasound are promising imaging tools to determine disease activity and complications. Comparative studies between different imaging methods are needed. PMID:25954096

  12. Diagnosis, disease stage, and distress of Chinese cancer patients

    PubMed Central

    Huang, Boyan; Chen, Huiping; Deng, Yaotiao; Yi, Tingwu; Wang, Yuqing

    2016-01-01

    Background The objective is to assess how cancer patients know about their diagnosis what they know about their real stage, and the relationship between cancer stage and psychological distress. Methods A questionnaire including the Distress Thermometer was delivered to 422 cancer inpatients. Multivariate logistic regression analysis was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Results Most of patients (68.7%) knew the bad news immediately after diagnosis. Half of patients knew their diagnosis directly from medical reports. Nearly one third of patients were informed by doctors. Cancer stages, which patients believed, differed significantly from their real disease stages (P<0.001). Over half of patients did not know their real disease stages. Patients with stage I–III cancer were more likely to know their real disease stage than patients with stage IV cancer (P<0.001). Distress scores of cancer patients were determined by the real cancer stage (P=0.012), not the stage which patients believed. Conclusions Although most of participants knew the bad news immediately after diagnosis, less than half of them knew their real disease stage. Patient with stage I–III cancer was more likely to know the real disease stage and had a DT score <4 than patient with stage IV disease. PMID:27004220

  13. Subclinical intestinal inflammation in chronic granulomatous disease patients.

    PubMed

    Broides, Arnon; Sagi, Orli; Pinsk, Vered; Levy, Jacov; Yerushalmi, Baruch

    2016-02-01

    Chronic granulomatous disease is a primary immunodeficiency caused by impaired neutrophil production of reactive oxygen species. Non-infectious colitis is common in chronic granulomatous disease, and high levels of antimicrobial antibodies that are associated with Crohn's disease are common even without colitis. Fecal calprotectin concentration is a marker for intestinal inflammation. We sought to determine whether subclinical intestinal inflammation occurs in asymptomatic chronic granulomatous disease patients. Asymptomatic chronic granulomatous disease patients without overt gastrointestinal symptoms suggestive of colitis at the time of enrollment were studied for fecal calprotectin concentration, antibodies associated with Crohn's disease and systemic inflammatory markers. Eight patients were included, aged 54-176 months. In 7/8 (87.5 %) fecal calprotectin concentration was normal (<50) and elevated (137 mg/kg) in only one patient. This patient later developed colitis. In 7/8 (87.5 %) anti-Saccharomyces cerevisiae antibody was positive. C-reactive protein, albumin, complete blood count and p-anti-neutrophil cytoplasmic antibody were normal in all 8 patients. Subclinical colitis is not evident in most asymptomatic chronic granulomatous disease patients; however, in some patients, fecal calprotectin concentration may be elevated, possibly indicating the presence of subclinical colitis and predicting the occurrence of clinically relevant colitis. Serum anti-Saccharomyces cerevisiae antibody concentrations do not seem to correlate with fecal calprotectin concentration in asymptomatic chronic granulomatous disease patients.

  14. Subclinical intestinal inflammation in chronic granulomatous disease patients.

    PubMed

    Broides, Arnon; Sagi, Orli; Pinsk, Vered; Levy, Jacov; Yerushalmi, Baruch

    2016-02-01

    Chronic granulomatous disease is a primary immunodeficiency caused by impaired neutrophil production of reactive oxygen species. Non-infectious colitis is common in chronic granulomatous disease, and high levels of antimicrobial antibodies that are associated with Crohn's disease are common even without colitis. Fecal calprotectin concentration is a marker for intestinal inflammation. We sought to determine whether subclinical intestinal inflammation occurs in asymptomatic chronic granulomatous disease patients. Asymptomatic chronic granulomatous disease patients without overt gastrointestinal symptoms suggestive of colitis at the time of enrollment were studied for fecal calprotectin concentration, antibodies associated with Crohn's disease and systemic inflammatory markers. Eight patients were included, aged 54-176 months. In 7/8 (87.5 %) fecal calprotectin concentration was normal (<50) and elevated (137 mg/kg) in only one patient. This patient later developed colitis. In 7/8 (87.5 %) anti-Saccharomyces cerevisiae antibody was positive. C-reactive protein, albumin, complete blood count and p-anti-neutrophil cytoplasmic antibody were normal in all 8 patients. Subclinical colitis is not evident in most asymptomatic chronic granulomatous disease patients; however, in some patients, fecal calprotectin concentration may be elevated, possibly indicating the presence of subclinical colitis and predicting the occurrence of clinically relevant colitis. Serum anti-Saccharomyces cerevisiae antibody concentrations do not seem to correlate with fecal calprotectin concentration in asymptomatic chronic granulomatous disease patients. PMID:26603166

  15. Macrophage and polymorphonuclear leukocyte function in patients with Alzheimer disease.

    PubMed

    Cameron, D J; Durst, G G; Majeski, J A

    1985-01-01

    Monocyte derived macrophages and polymorphonuclear leukocytes (PMNs) isolated from the peripheral blood of thirteen patients with Alzheimer disease were studied for their cytotoxic effects on a sensitive allogenic tumor target. PMN cells from 11 of the 13 patients with Alzheimer disease were able to kill the tumor cells. In addition, the macrophages from 12 of the 13 Alzheimer disease patients were cytotoxic towards the tumor targets. Four of these patients possessed a plasma inhibitory factor which was capable of suppressing macrophage mediated cytotoxicity. When the lymphocytes from these patients were studied for their ability to be stimulated with the specific antigen, streptokinase, to produce macrophage activating factor (MAF), only 5 of the 13 patients studied possessed lymphocytes which were capable of producing MAF. Thus, the only immunological defect in Alzheimer disease patients which was observed in this study was in the ability of the lymphocytes to synthesize MAF. PMID:4084662

  16. [Treatment strategy for patients with simultaneous cardiac and malignant diseases].

    PubMed

    Osawa, Hisayoshi; Muraki, Satoshi; Sakurada, Taku; Kawaharada, Nobuyoshi; Sasaki, Jun; Araki, Eiji; Nakashima, Shinji

    2014-03-01

    The choice of treatment strategy for patients with simultaneous cardiac and malignant diseases is often debatable. We report 11 patients with simultaneous cardiac and malignant diseases who were hospitalized in our institution over the past 6 years. The patients were 9 males and 2 females with a mean age of 71.9±9.0 years old. There were 7 cases of ischemic heart disease( IHD), and 4 cases of valvular disease. Malignant diseases consisted of 4 cases of colon cancer, 2 cases of pulmonary cancer, 2 cases of hepatic cancer, and 1 case each of sigmoid colon cancer with liver metastasis, gallbladder cancer, and pancreatic cancer. Eight of the 11 cases(73%)were hospitalized because of a symptom associated with cardiac disease, and malignant disease was diagnosed incidentally during examination or treatment. Four of the IHD cases preceded coronary revascularization by off-pump coronary artery bypass grafting (OPCAB) or percutaneous coronary intervention (PCI). Two of the valvular cases and 2 of the IHD cases underwent cardiac surgery after treatment of malignant diseases. In 3 cases, only 1 of the diseases was treated. Seven cases died of malignant diseases at the present. The choice of treatment strategy should be established for patients with simultaneous cardiac and malignant diseases in consideration of the severity of the cardiac disease and the expected prognosis of the malignant disease because there is no standardized method of treatment.

  17. Spousal undermining of older diabetic patients' disease management.

    PubMed

    Henry, Shayna L; Rook, Karen S; Stephens, Mary A P; Franks, Melissa M

    2013-12-01

    Marriage can enhance health for individuals with a chronic disease, yet spouses may also undermine disease management. The current study investigated spousal undermining of dietary regimen in 129 patients with type 2 diabetes mellitus. A total of 40 patients reported that their spouses tempted them with forbidden foods, and 15 reported that their spouses conveyed disregard for their diabetic diet. Spousal tempting was associated with worse dietary adherence, and spousal disregard with worse nondietary adherence. Spousal undermining is relatively rare but is associated with patients' disease management and warrants further investigation to better understand how spouses influence partners' day-to-day management of chronic diseases.

  18. Motility Evaluation in the Patient with Inflammatory Bowel Disease.

    PubMed

    Abdalla, Sherine M; Kalra, Gorav; Moshiree, Baha

    2016-10-01

    Patients with inflammatory bowel disease (IBD) suffer frequently from functional bowel diseases (FBD) and motility disorders. Management of FBD and motility disorders in IBD combined with continued treatment of a patient's IBD symptoms will likely lead to better clinical outcomes and improve the patient's quality of life. The goals of this review were to summarize the most recent literature on motility disturbances in patients with IBD and to give a brief overview of the ranges of motility disturbances, from reflux disease to anorectal disorders, and discuss their diagnosis and specific management. PMID:27633599

  19. Motility Evaluation in the Patient with Inflammatory Bowel Disease.

    PubMed

    Abdalla, Sherine M; Kalra, Gorav; Moshiree, Baha

    2016-10-01

    Patients with inflammatory bowel disease (IBD) suffer frequently from functional bowel diseases (FBD) and motility disorders. Management of FBD and motility disorders in IBD combined with continued treatment of a patient's IBD symptoms will likely lead to better clinical outcomes and improve the patient's quality of life. The goals of this review were to summarize the most recent literature on motility disturbances in patients with IBD and to give a brief overview of the ranges of motility disturbances, from reflux disease to anorectal disorders, and discuss their diagnosis and specific management.

  20. Hormones and arterial stiffness in patients with chronic kidney disease.

    PubMed

    Gungor, Ozkan; Kircelli, Fatih; Voroneanu, Luminita; Covic, Adrian; Ok, Ercan

    2013-01-01

    Cardiovascular disease constitutes the major cause of mortality in patients with chronic kidney disease. Arterial stiffness is an important contributor to the occurrence and progression of cardiovascular disease. Various risk factors, including altered hormone levels, have been suggested to be associated with arterial stiffness. Based on the background that chronic kidney disease predisposes individuals to a wide range of hormonal changes, we herein review the available data on the association between arterial stiffness and hormones in patients with chronic kidney disease and summarize the data for the general population.

  1. Scintigraphic perfusion patterns in patients with diffuse lung disease

    SciTech Connect

    Newman, G.E.; Sullivan, D.C.; Gottschalk, A.; Putman, C.E.

    1982-04-01

    Perfusion scintigrams of 55 patients with radiographic evidence of diffuse lung disease were reviewed. Thirty-nine had acute and/or chronic changes caused by congestive heart failure, and 16 had diffuse reticulonodular disease. A normal or near-normal perfusion pattern was seen in 40/55 (73%), and this finding was equally common in the two groups. The authors conclude that perfusion scintigraphy is useful in excluding pulmonary embolism in patients with radiographic evidence of diffuse, symmetrical lung disease.

  2. Increased frequencies of caries, periodontal disease and tooth loss in patients with Parkinson's disease.

    PubMed

    Hanaoka, Ayumi; Kashihara, Kenichi

    2009-10-01

    We aimed to evaluate oral hygiene in patients with Parkinson's disease (PD). The incidence of periodontal disease and numbers of caries and remaining teeth were checked in 89 consecutive 60 to 79-year-old patients with PD and compared with two other patient groups: 68 patients with mild neurological disease, and 60 with acute ischemic stroke. Patients with PD had fewer remaining teeth, more caries and a higher incidence of deep periodontal pockets. The frequency of patients with PD with untreated caries was high at Hoehn and Yahr stage II and above, and frequency tended to increase in patients who had low compared to high mini-mental state examination scores. Careful attention should be paid to the oral hygiene of patients with PD, even in the early stages of the disease.

  3. Revascularization options in patients with chronic kidney disease.

    PubMed

    Ashrith, Guha; Elayda, MacArthur A; Wilson, James M

    2010-01-01

    Cardiovascular disease is the leading cause of death in patients who have chronic kidney disease or end-stage renal disease and are undergoing hemodialysis. Chronic kidney disease is a recognized risk factor for premature atherosclerosis. Unfortunately, most major randomized clinical trials that form the basis for evidence-based use of revascularization procedures exclude patients who have renal insufficiency. Retrospective, observational studies suggest that patients with end-stage renal disease and severe coronary occlusive disease have a lower risk of death if they undergo coronary revascularization rather than medical therapy alone. Due to a lack of prospective studies, however, the relative merits of percutaneous versus surgical revascularization are merely a matter of opinion. Several small, retrospective studies have shown that coronary artery bypass grafting is associated with higher procedural death but better long-term survival than is percutaneous coronary intervention. This difference appears to result from poor long-term results of percutaneous coronary intervention in patients who have chronic kidney disease or end-stage renal disease.Because randomized trials comparing percutaneous coronary intervention and coronary artery bypass grafting have included patients undergoing balloon angioplasty and placement of bare-metal stents, their conclusions are suspect in the era of drug-eluting stents. In this review, we discuss different revascularization options for patients with chronic kidney disease, the outcomes of revascularization procedures, and the risk factors for adverse outcomes.

  4. [Actual diet of patients with gastrointestinal diseases].

    PubMed

    Loranskaia, T I; Shakhovskaia, A K; Pavliuchkova, M S

    2000-01-01

    The study of actual nutrition of patients with erosive-ulcerative lesions in the gastroduodenal zone and of patients with operated ulcer has revealed defects in intake of essential nutrients by these patients: overeating of animal fat and refined carbohydrates, deficiency of oil, vitamins A, B2, C, D and food fibers.

  5. [The physician-patient relationship in chronic disease management].

    PubMed

    Ginies, P

    2008-07-01

    The relationship between patients and clinicians is a key element in the management of chronic diseases. With the objective of a more efficient communication, the clinician should know his own personality but also the patient personality. The organisation of the consultation, of the waiting room and of the secretary has to facilitate this relationship. The amelioration of this relationship is usefulness only for the clinician in particularly complicated cases but also for the patients suffering from chronic diseases.

  6. Vaccination recommendations for adult patients with rheumatic diseases

    PubMed Central

    Tanrıöver, Mine Durusu; Akar, Servet; Türkçapar, Nuran; Karadağ, Ömer; Ertenli, İhsan; Kiraz, Sedat

    2016-01-01

    Infectious diseases in any age group can be successfully prevented through immunization. Protection provided through immunization in childhood decreases over the years. Immunization in adulthood is important because of the growing elderly population, chronic diseases, and globalization. Recommendations on this subject are being constantly updated through scientific guidelines. Immunization in adulthood is also important in rheumatology. There is an increased risk not only of infection in rheumatic diseases but also of infections being more severe. Most infections, and their frequently observed complications, are among those diseases that can be prevented through immunization. The type of immunization, immunosuppressive/immunomodulatory therapy received by the patient, disease activity, and presence of chronic diseases affect the immunization process in patients with rheumatic diseases. This review will consider the immunization process followed in rheumatic diseases and also refer to its application.

  7. Nutritional support for the patient with pancreatobiliary disease.

    PubMed

    Kohn, C L; Brozenec, S; Foster, P F

    1993-03-01

    Critically ill patients with severe pancreatobiliary disease exhibit multiple nutritional alterations compounded by the stress response. Acute pancreatitis may present as a life-threatening illness; patients are likely to be hypermetabolic and may have hyperglycemia and hypocalcemia. Nutritional support from parenteral or enteral feeding will probably be required in patients presenting with three or more positive risk factors as determined by Ranson criteria. Nutritional therapies for liver disease vary according to the specific disorder manifested. Patients with fulminant hepatic failure need to be monitored for profound hypoglycemia. Encephalopathy may develop in patients with acute-on-chronic liver disease, necessitating a protein restriction. Patients undergoing liver transplant are a perioperative challenge due to the combination of preoperative malnutrition, an extensive surgical procedure, and postoperative stress. Such patients require individualized assessment and management. PMID:8448001

  8. Alzheimer's disease care management plan: maximizing patient care.

    PubMed

    Treinkman, Anna

    2005-03-01

    Nurse practitioners have the potential to significantly impact the care of patients with dementia. Healthcare providers can now offer patients medications that will control symptoms and prolong functioning. As a result of ongoing contact with patients, NPs play an important role in assessing and screening patients for AD and educating the patients, families, and caregivers about the disease. Alzheimer's disease is a chronic, progressive illness that requires long-term management. Nurse practitioners should be familiar with available medications and appreciate the need to individualize therapy to maximize efficacy and minimize potential adverse drug reactions.

  9. [Vaccination prior to travelling for patients with rheumatic diseases].

    PubMed

    Ehrenstein, B

    2011-06-01

    Rheumatologists increasingly face patient questions about the need, the safety and the effectiveness of travel-related vaccinations. Currently, there are no guidelines on travel vaccinations for patients with inflammatory rheumatic diseases. The use of live attenuated vaccines remains contraindicated in patients receiving relevant immunosuppressive therapy despite some encouraging results from initial pilot studies. However, many inactivated travel vaccines can safely be used for patients with rheumatic diseases. Furthermore, rheumatologists should be vigilant in identifying and closing gaps in the routine vaccinations for patients.

  10. Isolation and characterization of microsatellite loci in Quercus fabri (Fagaceae).

    PubMed

    Xiao, Z Z; Chen, W W; Bao, W; Wang, R; Li, Y Y

    2016-01-01

    Quercus fabri is a pioneer species of secondary succession in evergreen broadleaved forests in China. In this study, we isolated and developed 12 polymorphic and 2 monomorphic microsatellite loci for Q. fabri using the biotin-streptavidin capture method. We characterized 12 polymorphic loci in 52 individuals from two populations. The number of alleles per locus ranged from 3 to 23. The observed and expected heterozygosities per locus were 0.033-0.773 and 0.138-0.924, respectively. These microsatellite loci will facilitate the studies on genetic variation, mating system, and gene flow of Q. fabri. PMID:27420954

  11. Late appearance of chronic pericardial disease in patients treated by radiotherapy for Hodgkin's disease

    SciTech Connect

    Applefeld, M.M.; Cole, J.F.; Pollock, S.H.; Sutton, F.J.; Slawson, R.G.; Singleton, R.T.; Wiernik, P.H.

    1981-03-01

    Radiation-induced chronic pericardial disease was recognized in nine patients 53 to 124 months (mean, 88 months) after radiotherapy for Hodgkin's disease. Depending on whether abnormal cardiac hemodynamics occurred before or after a fluid challenge, patients were considered to have either constrictive pericarditis (Group I) or occult constrictive pericarditis (Group II). There were no differences between these groups in various radiotherapy data, the use of chemotherapy, or the interval after treatment when the diagnosis of chronic pericardial disease was made. There were no consistent noninvasive variables to support the diagnosis of radiation-induced chronic pericardial disease before cardiac catheterization. Four patients underwent pericardiectomy. Two of the four operated patients had an excellent surgical result; a third patient died 4 months postoperatively of drug-induced granulocytopenia; the fourth patient has persistent visceral constrictive pericarditis 18 months after surgery. Speculation over the causes of radiation-induced chronic pericardial disease is made and our recommendations for its treatment given.

  12. Disease management programs for CKD patients: the potential and pitfalls.

    PubMed

    Rocco, Michael V

    2009-03-01

    Disease management describes the use of a number of approaches to identify and treat patients with chronic health conditions, especially those that are expensive to treat. Disease management programs have grown rapidly in the United States in the past several years. These programs have been established for patients with chronic kidney disease (CKD), but some have been discontinued because of the high cost of the program. Disease management programs for CKD face unique challenges. Identification of patients with CKD is hampered by incomplete use of the International Classification of Diseases, Ninth Revision (ICD-9) codes for CKD by physicians and the less than universal use of estimated glomerular filtration rate from serum creatinine measurements to identify patients with an estimated glomerular filtration rate less than 60 mL/min/1.73 m(2). CKD affects multiple organ systems. Thus, a comprehensive disease management program will need to manage each of these aspects of CKD. These multiple interventions likely will make a CKD disease management program more costly than similar disease management programs designed for patients with diabetes mellitus, congestive heart failure, or other chronic diseases. The lack of data that can be used to develop effective disease management programs in CKD makes it difficult to determine goals for the management of each organ system affected by CKD. Finally, long periods of observation will be needed to determine whether a particular disease management program is effective in not only improving patient outcomes, but also decreasing both resource use and health care dollars. This long-term observation period is contrary to how most disease management contracts are written, which usually are based on meeting goals during a 1- to 3-year period. Until these challenges are resolved, it likely will be difficult to maintain effective disease management programs for CKD.

  13. Heart disease and physical activity: looking beyond patient characteristics.

    PubMed

    Blanchard, Chris M

    2012-01-01

    Physical activity (PA) adherence is a problem that has plagued cardiovascular disease patients for years. Because of this, researchers have advocated for the identification of key theoretical correlates that can be used to guide PA intervention development. The present review will identify key PA correlates for these patients and provide subsequent recommendations to look beyond patient-level correlates.

  14. Addressing challenges and needs in patient education targeting hardly reached patients with chronic diseases

    PubMed Central

    Varming, Annemarie Reinhardt; Torenholt, Rikke; Møller, Birgitte Lund; Vestergaard, Susanne; Engelund, Gitte

    2015-01-01

    Some patients do not benefit from participation in patient education due to reasons related to disease burden, literacy, and socioeconomic challenges. In this communication, we address more specifically both the challenges that these hardly reached patients face in relation to patient education programs and the challenges educators face when conducting patient education with hardly reached patients. We define principles for the format and content of dialogue tools to better support this patient group within the population of individuals with diabetes. PMID:25729695

  15. Survival Analysis of Patients with End Stage Renal Disease

    NASA Astrophysics Data System (ADS)

    Urrutia, J. D.; Gayo, W. S.; Bautista, L. A.; Baccay, E. B.

    2015-06-01

    This paper provides a survival analysis of End Stage Renal Disease (ESRD) under Kaplan-Meier Estimates and Weibull Distribution. The data were obtained from the records of V. L. MakabaliMemorial Hospital with respect to time t (patient's age), covariates such as developed secondary disease (Pulmonary Congestion and Cardiovascular Disease), gender, and the event of interest: the death of ESRD patients. Survival and hazard rates were estimated using NCSS for Weibull Distribution and SPSS for Kaplan-Meier Estimates. These lead to the same conclusion that hazard rate increases and survival rate decreases of ESRD patient diagnosed with Pulmonary Congestion, Cardiovascular Disease and both diseases with respect to time. It also shows that female patients have a greater risk of death compared to males. The probability risk was given the equation R = 1 — e-H(t) where e-H(t) is the survival function, H(t) the cumulative hazard function which was created using Cox-Regression.

  16. Coronary artery disease in patients with cerebrovascular disease: a prospective study

    SciTech Connect

    Rokey, R.; Rolak, L.A.; Harati, Y.; Kutka, N.; Verani, M.S.

    1984-07-01

    Coronary artery disease is the cause of death in most patients who have transient ischemic attacks or stroke. Evaluation for this condition is not routinely performed in such patients, and no prospective studies have been reported. We prospectively examined 50 consecutive patients with transient ischemic attacks or mild stroke to determine the prevalence and importance of coronary artery disease. All patients were examined by a cardiologist and underwent both exercise thallium-201 scintigraphy and exercise radionuclide ventriculography. Sixteen patients were suspected to have coronary artery disease on the basis of clinical evaluation. In 15 of these the was confirmed by the nuclear scans. The remaining 34 patients had no clinical evidence of heart disease, yet 14 had abnormal cardiac scans. Twenty of 22 patients with abnormal scans who underwent cardiac catheterization had significant coronary artery disease or a cardiomyopathy. The discovery of heart disease altered clinical management in 13 patients. Overall, 29 of 50 patients had significant coronary artery disease, compared with a 7% prevalence of the condition in other patients of similar age at the same institution.

  17. Review article: hepatitis vaccination in patients with chronic liver disease.

    PubMed

    Reiss, G; Keeffe, E B

    2004-04-01

    Evidence regarding the outcomes of viral super-infection in patients with chronic liver disease and practical strategies for hepatitis A and B vaccination of these individuals are reviewed. Patients with acute hepatitis A and chronic hepatitis B have a more severe clinical course and a higher death rate compared with otherwise healthy individuals with hepatitis A, and these differences are most pronounced in older patients and those with histological evidence of chronic hepatitis or cirrhosis, rather than in asymptomatic hepatitis B carriers. Patients with acute hepatitis A super-infection and chronic hepatitis C have an increased risk of fulminant hepatitis and death. In addition, patients with other chronic liver diseases also appear to be at increased risk for more severe disease with superimposed hepatitis A. Patients with chronic hepatitis B and hepatitis C virus co-infection have more severe laboratory abnormalities, more severe histological disease, a greater frequency of cirrhosis and complications of cirrhosis, and a higher incidence of hepatocellular carcinoma. Vaccines for both hepatitis A and B are safe and effective if used early in the course of chronic liver disease. Hepatitis A and B vaccination should be part of the routine management of patients with chronic liver disease, preferably as early as possible in the natural course of their disease.

  18. Use of statins in patients with liver disease.

    PubMed

    Tandra, Sweta; Vuppalanchi, Raj

    2009-08-01

    Cardiovascular disease is as common in individuals with chronic liver disease as in the general population. Moreover, recent data suggest that patients with nonalcoholic fatty liver disease (NAFLD) may have a cardiovascular risk greater than that conferred by the conventional risk factors. There is unequivocal evidence that cardiovascular disease is an important cause of morbidity and mortality in this patient population and thus requires consideration of aggressive therapy with lipid-lowering agents such as statins. Because all statins are hepatically cleared and can cause elevations in liver biochemistries, there is a concern that patients with underlying liver disease may be at increased risk for hepatotoxicity. However, recent data, along with an assessment of statin safety by the Liver Expert Panel, suggest that statins are generally well tolerated in patients with chronic liver disease such as NAFLD, primary biliary cirrhosis, and hepatitis C virus. These drugs also appear to be safe in patients with stable/compensated cirrhosis. However, decompensated cirrhosis and acute liver failure should be considered contraindications for lipid-lowering therapy as these patients are unlikely to benefit because of their generally grave prognosis. Although routine hepatic biochemical test monitoring is recommended, the cost-effectiveness of this approach has been questioned. The benefit of statins in patients with underlying liver disease who are otherwise important candidates for statin therapy far outweighs the risk of a very rare event of serious liver injury. PMID:19627660

  19. Approach to the patient with Parkinson disease.

    PubMed

    Johnson, Kevin E

    2015-06-01

    Parkinson disease (PD) is a progressive neurodegenerative disease with motor, nonmotor, and behavioral findings. Imaging technology advances have allowed the characterization of the underlying pathologic changes to the brain and identification of specific lesions in dopaminergic neurons. Although certain imaging techniques allow for detection up to 20 years before the onset of motor symptoms, these advances have yet to produce meaningful treatments to halt the disease or reverse its course. Current treatments are directed at optimizing symptomatic management. Referral to a movement disorder specialist familiar with PD should be considered for providers with limited familiarity in diagnosis or treatment.

  20. Valvular heart disease and the military patient.

    PubMed

    Holdsworth, D A; Mulae, J; Williams, A; Jackson, S; Chambers, J

    2015-09-01

    Valvular heart disease refers to all inherited and acquired abnormalities impairing the function of one or more of the four cardiac valves. Pathology may be of the valve leaflets themselves, of the subvalvular apparatus or of the annulus or other surrounding structures that influences valve function. This paper examines the most common valve lesions, with specific reference to a military population; it focuses on detection and initial management of valve disease in a young adult population and specifically describes how the diagnosis and treatment of valve disease impacts military medical grading.

  1. Patients with Celiac Disease Are Not Followed Adequately

    PubMed Central

    Herman, Margot L.; Rubio-Tapia, Alberto; Lahr, Brian D.; Larson, Joseph J.; Van Dyke, Carol T.; Murray, Joseph A.

    2012-01-01

    Background & Aims Adherence to a gluten-free diet is the only effective treatment for celiac disease. It has been recommended that patients be followed, make regular visits to the clinic, and undergo serologic analysis for markers of celiac disease, although a follow-up procedure has not been standardized. We determined how many patients with celiac disease are actually followed. Methods We collected data on 122 patients with biopsy-proven celiac disease, diagnosed between 1996 and 2006 in Olmsted County, Minnesota (70% women, median age of 42 years) for whom complete medical records and verification of residency were available. We determined the frequency at which patients received follow-up examinations, from 6 months to 5 years after diagnosis. The Kaplan-Meier method was used to estimate event rates at 1 and 5 year(s). Patients were classified according to categories of follow-up procedures recommended by the American Gastroenterology Association (AGA). Results We estimated that by 1 and 5 year(s) after diagnosis with celiac disease, 41.0% and 88.7% of the patients had follow-up visits, 33.6% and 79.8% were assessed for compliance with a gluten-free diet, 3.3% and 15.8% met with a registered dietitian, 2.5% and 18.1% had an additional intestinal biopsy, and 22.1% and 65.6% received serologic testing for markers of celiac disease. Among 113 patients (93%) who were followed for more than 4 years, only 35% received follow-up analyses that were consistent with AGA recommendations. Conclusions Patients with celiac disease are not followed consistently. Follow-up examinations are often inadequate and do not follow AGA recommendations. Improving follow-up strategies for patients with celiac disease could improve management of this disease. PMID:22610009

  2. Fabry-Perot resonance of water waves.

    PubMed

    Couston, Louis-Alexandre; Guo, Qiuchen; Chamanzar, Maysamreza; Alam, Mohammad-Reza

    2015-10-01

    We show that significant water wave amplification is obtained in a water resonator consisting of two spatially separated patches of small-amplitude sinusoidal corrugations on an otherwise flat seabed. The corrugations reflect the incident waves according to the so-called Bragg reflection mechanism, and the distance between the two sets controls whether the trapped reflected waves experience constructive or destructive interference within the resonator. The resulting amplification or suppression is enhanced with increasing number of ripples and is most effective for specific resonator lengths and at the Bragg frequency, which is determined by the corrugation period. Our analysis draws on the analogous mechanism that occurs between two partially reflecting mirrors in optics, a phenomenon named after its discoverers Charles Fabry and Alfred Perot.

  3. Fabry-Perot resonance of water waves

    NASA Astrophysics Data System (ADS)

    Couston, Louis-Alexandre; Guo, Qiuchen; Chamanzar, Maysamreza; Alam, Mohammad-Reza

    2015-10-01

    We show that significant water wave amplification is obtained in a water resonator consisting of two spatially separated patches of small-amplitude sinusoidal corrugations on an otherwise flat seabed. The corrugations reflect the incident waves according to the so-called Bragg reflection mechanism, and the distance between the two sets controls whether the trapped reflected waves experience constructive or destructive interference within the resonator. The resulting amplification or suppression is enhanced with increasing number of ripples and is most effective for specific resonator lengths and at the Bragg frequency, which is determined by the corrugation period. Our analysis draws on the analogous mechanism that occurs between two partially reflecting mirrors in optics, a phenomenon named after its discoverers Charles Fabry and Alfred Perot.

  4. Echocardiography in the Assessment of Patients with Rheumatologic Diseases.

    PubMed

    Al-Mohaissen, Maha A; Chan, Kwan-Leung

    2016-08-01

    Cardiovascular disease is an important extra-articular manifestation of rheumatologic diseases leading to considerable mortality and morbidity. Echocardiography emerges as a useful non-invasive technique for the screening and evaluation of cardiac involvement in these patients. With the technological advancement in echocardiographic techniques, we have gained a greater appreciation of the prevalence and nature of the cardiac involvement in these patients, as detection of subclinical disease is increasingly feasible. This review discusses cardiac involvement in patients with rheumatoid arthritis, systemic lupus erythematosus, anti-phospholipid antibody syndrome, systemic sclerosis and ankylosing spondylitis, and the role of different echocardiographic modalities in their evaluation.

  5. A case of phrynoderma in a patient with Crohn's disease.

    PubMed

    Cobos, Gabriela; Cornejo, Christine; McMahon, Patrick

    2015-01-01

    Phrynoderma is a type of follicular hyperkeratosis associated with nutritional deficiencies. It is rarely seen in developed countries, although cases have been reported in patients with severe malnutrition or malabsorption secondary to various causes. This report describes a 19-year-old patient with poorly controlled Crohn's disease and malnutrition who developed the characteristic hyperkeratotic papules and plaques on his trunk and extremities in the setting of low serum vitamin A levels. To our knowledge, there are no reports of phrynoderma associated with Crohn's disease. It is likely that our patient's low vitamin A level and subsequent phrynoderma was the result of increased Crohn's disease activity and malnutrition.

  6. Oral health of patients with severe rheumatic heart disease.

    PubMed

    Maharaj, Breminand; Vayej, Ahmed C

    2012-07-01

    In order to determine whether adequate attention is paid to the maintenance of good oral health in patients at risk of developing infective endocarditis, we studied 44 black patients with severe rheumatic heart disease before they had cardiac surgery. Plaque and gingival index scores were calculated and panoramic radiographs were done in all patients. There were 17 males and 27 females (mean age: 30.6 years). The plaque and gingival index scores were classified as poor in 31.8 and 54.6% of patients, respectively. Panoramic radiographic findings included caries in 56.8% of patients, peri-apical pathology in 18.1% and retained roots in 22.7% of patients. This study demonstrates that inadequate attention is paid to the maintenance of good oral health in patients with severe rheumatic heart disease. The oral and dental care of patients at risk of developing infective endocarditis needs to be improved. PMID:22836156

  7. Renal stone disease in spinal-cord-injured patients.

    PubMed

    Welk, Blayne; Fuller, Andrew; Razvi, Hassan; Denstedt, John

    2012-08-01

    Renal stone disease is common among patients with spinal cord injury (SCI). They frequently have recurrent stones, staghorn calculi, and bilateral stone disease. The potential risk factors for stones in the SCI population are lesion level, bladder management strategy, specific metabolic changes, and frequent urinary tract infections. There has been a reduction in struvite stones among these patients, likely as a result of advances in their urologic care. The clinical presentation of stone disease in patients with SCI may involve frequent urinary infections or urosepsis, and at the time of presentation patients may need emergency renal drainage. The proportion of patients who have their stones treated with different modalities is largely unknown. Shockwave lithotripsy (SWL) is commonly used to manage stones in patients with SCI, and there have been reports of stone-free rates of 50% to 70%. The literature suggests that the morbidity associated with percutaneous nephrolithotomy in these patients is considerable. Ureteroscopy is a common modality used in the general population to treat patients with upper tract stone disease. Traditional limitations of this procedure in patients with SCI have likely been overcome with new flexible scopes; however, the medical literature has not specifically reported on its use among patients with SCI.

  8. A new Internet resource for chronic kidney disease patients.

    PubMed

    Ormandy, P; Vlaminck, H; Harrington, M; Forest, M; Visser, R

    2006-01-01

    This paper focuses on the development of a portal in the World Wide Web (WWW), which captures and locates quality information for patients with chronic kidney disease (CKD). It examines the problems patients face when accessing and understanding information gleaned from Web sites and describes an idea from a Research Board Member to facilitate patient access to quality information. The idea germinated into the development of a patient specific Web site, providing one stop access and links to appropriate CKD information, assessed by patients and health professionals. Collaboration between the EDTNA/ERCA Research Board and CEAPIR the European Federation of Kidney Patients has enhanced the project. PMID:16700172

  9. Role of Myeloperoxidase in Patients with Chronic Kidney Disease

    PubMed Central

    Kisic, Bojana; Miric, Dijana; Dragojevic, Ilija; Rasic, Julijana; Popovic, Ljiljana

    2016-01-01

    Chronic kidney disease (CKD) is a worldwide public health problem. Patients with CKD have a number of disorders in the organism, and the presence of oxidative stress and systemic inflammation in these patients is the subject of numerous studies. Chronic inflammation joined with oxidative stress contributes to the development of numerous complications: accelerated atherosclerosis process and cardiovascular disease, emergence of Type 2 diabetes mellitus, development of malnutrition, anaemia, hyperparathyroidism, and so forth, affecting the prognosis and quality of life of patients with CKD. In this review we presented the potential role of the myeloperoxidase enzyme in the production of reactive/chlorinating intermediates and their role in oxidative damage to biomolecules in the body of patients with chronic kidney disease and end-stage renal disease. In addition, we discussed the role of modified lipoprotein particles under the influence of prooxidant MPO intermediates in the development of endothelial changes and cardiovascular complications in renal failure. PMID:27127544

  10. Primary pulmonary histiocytosis X in two patients with Hodgkin's disease

    PubMed Central

    Sajjad, Syed M; Luna, Mario A

    1982-01-01

    The lungs may be involved in patients with histiocytosis X as part of the generalised disease, but histiocytosis X confined to the lungs without extrapulmonary involvement is rare. This report describes two cases of primary pulmonary histiocytosis arising in patients with Hodgkin's disease. It is impossible to state with certainty whether the pulmonary histiocytosis arose as a response to the defects of cell-mediated immunity, or as a consequence of immunosuppression by radiation and chemotherapy. Images PMID:6979116

  11. Palliative care for patients with non-malignant respiratory disease.

    PubMed

    McVeigh, Clare

    2015-05-01

    Non-malignant respiratory disease is a chronic life-limiting condition that requires holistic palliative care. Patients with non-malignant respiratory disease have a range of biopsychosocial and spiritual needs, which healthcare professionals should recognise and manage effectively. Healthcare professionals have an important role in enabling the delivery of effective palliative care to this group of patients and their carers, and in recognising the many factors that may impede delivery of palliative care. PMID:25942985

  12. Bone disease in calcium stone forming patients.

    PubMed

    Heilberg, I P; Martini, L A; Szejnfeld, V L; Carvalho, A B; Draibe, S A; Ajzen, H; Ramos, O L; Schor, N

    1994-09-01

    The association between idiopathic hypercalciuria and osteopenia (OP) has been recently recognized. It is not established whether or not calcium intake plays a critical role in the loss of bone mass. Fifty-five calcium stone forming patients with either absorptive hypercalciuria (AH) or fasting hypercalciuria (FH), 29 males and 26 premenopausal females, were submitted to dual photon absorptiometry at lumbar spine. Calcium intake was assessed by a 72 hr dietary record. OP was detected in 20% (11/55) of patients, being more common among men, 9/26 (35%) than in women, 2/29 (7%), p < 0.05. Male FH patients presented lower mean bone mineral density (BMD) than sex, weight and age-matched control (1.058 +/- 0.18 vs 1.209 +/- 0.13 g/cm2, X +/- SD, p < 0.05). OP was more frequent in FH patients, 7/20 (35%) than in AH patients 4/35 (11%), albeit the difference was not statistically significant. There was no correlation between calcium intake and BMD measurement. Six osteopenic male FH patients were further submitted to histomorphometric evaluation with tetracycline double labeling. Bone volume was lower than the controls (13.2 +/- 3.0 vs 27.2 +/- 3.7%, p < 0.05). Osteoid surfaces were reduced, although not significantly (10.1 +/- 8.2% vs 15.9 +/- 6.7%). Eroded surfaces were markedly increased (23.9 +/- 13.4 vs 4.2 +/- 1.4%, p < 0.05). The bone formation rate was very low with a complete lack of tetracycline double labeling in 4 patients. These data suggest low bone volume, tendency to low bone formation, increased bone resorption and a severe mineralization defect, consistent with normal or low bone turnover osteoporosis. PMID:7994936

  13. Quality of Life in Chronic Disease Patients

    PubMed Central

    Megari, Kalliopi

    2013-01-01

    During the past decades there was an increasing predominance of chronic disorders, with a large number of people living with chronic diseases that can adversely affect their quality of life. The aim of the present paper is to study quality of life and especially Health-related quality of life (HRQoL) in chronic diseases. HRQOL is a multidimensional construct that consists of at least three broad domains – physical, psychological, and social functioning – that are affected by one’s disease and/or treatment. HRQoL is usually measured in chronic conditions and is frequently impaired to a great extent. In addition, factors that are associated with good and poor HRQoL, as well as HRQoL assessment will be discussed. The estimation of the relative impact of chronic diseases on HRQoL is necessary in order to better plan and distribute health care resources aiming at a better HRQoL. [«All the people perceive the concept of living good or being well, that is the same as being happy». (Aristotle. 384-322 BC. Ethica Nichomachea)] PMID:26973912

  14. Social Media Use in Patients with Inflammatory Bowel Disease.

    PubMed

    Guo, Ling; Reich, Jason; Groshek, Jacob; Farraye, Francis A

    2016-05-01

    Patients with chronic illnesses such as Inflammatory Bowel Disease (IBD) have been more keen to utilize the Internet and in particular, social media to obtain patient educational information in recent years. It is important for the gastroenterologist to be aware of these modalities and how they might affect information exchange and ultimately, disease management. This article addresses the current prevalence of social media use, advent of mobile health applications, social media usage in patients with chronic conditions, usage amongst providers, and most notably, the usage and preferences in IBD patients. Over the last decade there has been an increasing desire from patients to receive educational material about their disease through social media. We reviewed the medical literature on the quality of IBD-related information on social media. Given the disparity of information available on the Internet, we remark on the quality of this information and stress the need for further research to assess the validity of IBD information posted on social media.

  15. [Orthopaedic neurological diseases in patient with diabetes].

    PubMed

    Natsume, Tadahiro; Hirata, Hitoshi

    2014-02-01

    Individuals with diabetes are at a greater risk for microvascular complications, such as retinopathy, neuropathy, and nephropathy, than are individuals without diabetes. Diabetic neuropathies are complex heterogeneous disorders that include both focal neuropathies and diffuse polyneuropathy. Entrapment neuropathy is an example of a focal neuropathy, while distal symmetric polyneuropathy is the most common type of diffuse polyneuropathy. Entrapment neuropathies are highly prevalent in the diabetic population, but they develop insidiously and progressively, making it difficult to determine their true prevalence. Entrapment neuropathies are suspected to be a more common complication of diabetes than is polyneuropathy. For example, carpal tunnel syndrome (CTS)-one of the most common entrapment neuropathies encountered in patients with diabetes-results from median nerve compression, and has been shown to occur three times more frequently in a diabetic population than in a normal healthy population. Entrapment neuropathies should be actively screened for in patients showing the signs and symptoms of neuropathy, because such patients may require surgical treatment.

  16. Metabolic syndrome in patients with hematological diseases.

    PubMed

    Annaloro, Claudio; Airaghi, Lorena; Saporiti, Giorgia; Onida, Francesco; Cortelezzi, Agostino; Deliliers, Giorgio Lambertenghi

    2012-08-01

    The term metabolic syndrome (MS) defines a clustering of cardiovascular risk factors, formerly known as syndrome X. There is some debate about the diagnostic criteria; but the most widely accepted framework is that defined by the National Cholesterol Education Program Adult Treatment Panel III, which requires the simultaneous occurrence of at least three of abdominal obesity, arterial hypertension, hyperglycemia, hypertrigliceridemia and low high-density lipoprotein cholesterol (HDL-C). The prevalence of MS increases with age and varies depending on genetic factors. An abnormally high prevalence has been observed in patients with heterogeneous conditions, such as solid organ transplant recipients, AIDS patients and long-term cancer survivors. As some of the pathogenetic factors possibly involved include cyclosporine A, corticosteroids and cancer chemoradiotherapy, it is possible that MS may also be a complication in hematological patients. Some of the characteristics of MS have been reported with a certain frequency in thalassemia patients, and are mainly attributed to iron overload. Impaired hemostasis is a feature of MS rather than a factor predisposing to its development. In oncohematology, an abnormally high prevalence of MS features has been observed in survivors of pediatric acute lymphoblastic leukemia. In addition to corticosteroid- and cancer therapy-related hypogonadism, hypothyroidism and defective growth hormone incretion are other factors related to the development of MS. Moreover, the highest frequency of MS is observed in hematopoietic stem cell transplantation (HSCT) recipients. Pediatric patients and allogeneic HSCT recipients have been the subject of foremost investigations; but adult patients and autologous HSCT recipients have also been studied more recently. A wide range of factors may contribute to the development of MS in HSCT recipients. Unfortunately, the real entity of the problem is far from clear because of the retrospective design of

  17. Preoperative prediction of significant coronary artery disease in patients with valvular heart disease.

    PubMed Central

    Ramsdale, D R; Faragher, E B; Bennett, D H; Bray, C L; Ward, C; Beton, D C

    1982-01-01

    A prognostic index for predicting significant coronary artery disease was established using multiple logistic regression analysis of clinical data from 643 patients with valvular heart disease who had undergone routine coronary arteriography before valve replacement. The index or equation obtained incorporated the presence of angina, a family history of ischaemic heart disease, age, cigarette smoking habits, mitral valve disease, sex, and electrocardiographic evidence of myocardial infarction. The equation was validated using prospective data from 387 patients with valvular disease and shown to enable almost a third of routine coronary arteriograms to be omitted while maintaining 95% sensitivity for patients with coronary artery disease. Similar analysis of the more detailed prospective data produced a second discriminant function incorporating diastolic blood pressure, total cigarettes smoked in life, the severity of angina, family history of ischaemic heart disease, age, current cigarette smoking habits, and the ratio of total to high density lipoprotein cholesterol. This method improved the discrimination between patients with and without coronary artery disease, allowing omission of 30% of routine coronary arteriograms with 100% sensitivity for patients with coronary disease and omission of 41% with a 96% sensitivity level. Images FIG 1 FIG 2 PMID:6799111

  18. Patterns of cortical thinning in nondemented Parkinson's disease patients

    PubMed Central

    Uribe, Carme; Segura, Barbara; Baggio, Hugo Cesar; Abos, Alexandra; Marti, Maria Jose; Valldeoriola, Francesc; Compta, Yaroslau; Bargallo, Nuria

    2016-01-01

    ABSTRACT Background Clinical variability in the Parkinson's disease phenotype suggests the existence of disease subtypes. We investigated whether distinct anatomical patterns of atrophy can be identified in Parkinson's disease using a hypothesis‐free, data‐driven approach based on cortical thickness data. Methods T1‐weighted 3‐tesla MRI and a comprehensive neuropsychological assessment were performed in a sample of 88 nondemented Parkinson's disease patients and 31 healthy controls. We performed a hierarchical cluster analysis of imaging data using Ward's linkage method. A general linear model with cortical thickness data was used to compare clustering groups. Results We observed 3 patterns of cortical thinning in patients when compared with healthy controls. Pattern 1 (n = 30, 34.09%) consisted of cortical atrophy in bilateral precentral gyrus, inferior and superior parietal lobules, cuneus, posterior cingulate, and parahippocampal gyrus. These patients showed worse cognitive performance when compared with controls and the other 2 patterns. Pattern 2 (n = 29, 32.95%) consisted of cortical atrophy involving occipital and frontal as well as superior parietal areas and included patients with younger age at onset. Finally, in pattern 3 (n = 29, 32.95%), there was no detectable cortical thinning. Patients in the 3 patterns did not differ in disease duration, motor severity, dopaminergic medication doses, or presence of mild cognitive impairment. Conclusions Three cortical atrophy subtypes were identified in nondemented Parkinson's disease patients: (1) parieto‐temporal pattern of atrophy with worse cognitive performance, (2) occipital and frontal cortical atrophy and younger disease onset, and (3) patients without detectable cortical atrophy. These findings may help identify prognosis markers in Parkinson's disease. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement

  19. Nocardia infections among immunomodulated inflammatory bowel disease patients: A review

    PubMed Central

    Abreu, Cândida; Rocha-Pereira, Nuno; Sarmento, António; Magro, Fernando

    2015-01-01

    Human nocardiosis, caused by Nocardia spp., an ubiquitous soil-borne bacteria, is a rare granulomatous disease close related to immune dysfunctions. Clinically can occur as an acute life-threatening disease, with lung, brain and skin being commonly affected. The infection was classically diagnosed in HIV infected persons, organ transplanted recipients and long term corticosteroid treated patients. Currently the widespread use of immunomodulators and immunossupressors in the treatment of inflammatory diseases changed this scenario. Our purpose is to review all published cases of nocardiosis in immunomodulated patients due to inflammatory diseases and describe clinical and laboratory findings. We reviewed the literature concerning human cases of nocardiosis published between 1980 and 2014 in peer reviewed journals. Eleven cases of nocardiosis associated with anti-tumor necrosis factor (TNF) prescription (9 related with infliximab and 2 with adalimumab) were identified; 7 patients had inflammatory bowel disease (IBD), 4 had rheumatological conditions; nocardia infection presented as cutaneous involvement in 3 patients, lung disease in 4 patients, hepatic in one and disseminated disease in 3 patients. From the 10 cases described in IBD patients 7 were associated with anti-TNF and 3 with steroids and azathioprine. In conclusion, nocardiosis requires high levels of clinical suspicion and experience of laboratory staff, in order to establish a timely diagnosis and by doing so avoid worst outcomes. Treatment for long periods tailored by the susceptibility of the isolated species whenever possible is essential. The safety of restarting immunomodulators or anti-TNF after the disease or the value of prophylaxis with cotrimoxazole is still debated. PMID:26074688

  20. [Mental status of patients with ulcer disease].

    PubMed

    Tsimmerman, Ia S; Belousov, F V; Tregubov, L Z

    2004-01-01

    Questionnaire survey has been performed among 100 patients with duodenal ulcer (DU). Character building of these patients when they were children and adolescents was wring in 80 +/- 4 cases (women) and in 88.6 +/- 3.2 cases (men). Most significant negative factors were undercare, hypercare and living in incomplete family. The Leongard's questionnaire distinguishes various accentuations with prevalence of cycloid, epileptoid, emotive and demonstrative; anxiety scale was low. The Gissen personality questionnaire "Ego" confirmed frequent occurrence among DU patients of emotive, hysteroid, epileptoid features with non-flexible type of reaction. By Luscher's test, anxiety was low or moderate. Overall prevalence of personality disorders totalled 29 +/- 4.5 cases, mostly in women. It was proved experimentally that psychosomatic disorders are realized in target organs. In DU these organs were gastrointestinal (36 +/- 5.7 cases). Similar data about involvement of the gastrointestinal tract (GIT) were obtained in stress reactions. However, "ulcer personality" was not documented. Support of preferable realization of psychogenic factors action in GIT was obtained with Gissen somatic questionnaire. Operating psychogenic factors and their dynamics were characterized; emotional deprivation was leading. Among psychopathological manifestations, asthenodepressive symptoms prevailed in 76 +/- 4.3 cases. High efficiency of gestalt-psychotherapy and coaxil in the treatment of DU in patients with psychopathological disorders of the neurotic level were found. PMID:15114773

  1. [Anaesthesia for patients with obstructive airway diseases].

    PubMed

    Groeben, H; Keller, V; Silvanus, M T

    2014-01-01

    Obstructive lung diseases like asthma or chronic obstructive lung diseases have a high prevalence and are one of the four most frequent causes of death. Obstructive lung diseases can be significantly influenced by the choice of anesthetic techniques and anesthetic agents. Basically, the severity of the COPD and the degree of bronchial hyperreactivity will determine the perioperative anesthetic risk. This risk has to be assessed by a thorough preoperative evaluation and will give the rationale on which to decide for the adequate anaesthetic technique. In particular, airway instrumentation can cause severe reflex bronchoconstriction. The use of regional anaesthesia alone or in combination with general anaesthesia can help to avoid airway irritation and leads to reduced postoperative complications. Prophylactic antiobstructive treatment, volatile anesthetics, propofol, opioids, and an adequate choice of muscle relaxants minimize the anesthetic risk, when general anesthesia is required In case, despite all precautions intra-operative bronchospasm occurs, deepening of anaesthesia, repeated administration of beta2-adrenergic agents and parasympatholytics, and a single systemic dose of corticosteroids represent the main treatment options. PMID:24749300

  2. Patient satisfaction measurement in the disease management industry.

    PubMed

    Sen, Shaikat; Fawson, Paul; Cherrington, Graham; Douglas, Kathleen; Friedman, Neal; Maljanian, Rose; Fitzner, Karen; Tang, Pei; Soper, Steven; Wood, Steven

    2005-10-01

    In mid-2004, the Disease Management Association of America (DMAA) Patient Satisfaction Workgroup in association with J.D. Power and Associates (JDPA) conducted a literature review and a member survey to gain an understanding of the nature of patient satisfaction measurement as it pertains to disease management (DM) programs within the DM industry. A review of the relevant literature indicates that perhaps, with the exception of diabetes disease management, there are no prevalent, systematic, or statistically validated approaches for measuring patient satisfaction within the disease management industry. Most existing studies tend to focus on the effectiveness of a disease management program on clinical outcomes, with patient satisfaction measured only as a part of a battery of "outcome" measures. However, many of these studies do find positive associations between patient satisfaction and clinical outcomes. A majority of the 49 respondents who completed the member feedback survey hold relatively high positions in their organizations. The vast majority of respondents indicate their organizations conduct patient satisfaction surveys that assess overall satisfaction, satisfaction with materials and information provided, and with staff members. Patient satisfaction surveys are most common among the five common chronic diseases: diabetes, asthma, congestive heart failure (CHF), coronary artery disease (CAD), and chronic obstructive pulmonary disease (COPD). More than three in four respondents agree that patient satisfaction measurement is important to the long-term success of their programs. Respondents also indicate that along with intelligence on patients' overall satisfaction with the program, they would also like to gain an understanding of whether or not their programs actually help manage the patient's medical condition. Eight survey instruments currently in use and submitted by study participants were also reviewed. Most of these instruments are relatively short

  3. Learning Style Preferences of Elderly Coronary Artery Disease Patients.

    ERIC Educational Resources Information Center

    Theis, Saundra L.; Merritt, Sharon L.

    1992-01-01

    The Patient Learning Styles Questionnaire derived from Canfield and administered to 134 elderly coronary artery disease patients revealed the following order of learning preferences: structure, iconics, listening, direct experience, reading, achievement, affiliation, and eminence. Level of education significantly influenced preferred learning…

  4. Joint Storytelling by Patients with Alzheimer's Disease and Their Spouses.

    ERIC Educational Resources Information Center

    Kemper, Susan; And Others

    1995-01-01

    Discusses personal narratives of subjects with Alzheimer's disease and their spouses. Notes that solo narratives were gathered from patients and spouses separately, and then joint narratives were gathered. Compares patients' ability to provide settings in their solo narrative to their ability to supply information when prompted by spouses. Finds…

  5. Sarcopenia and Physical Inactivity in Patients With Chronic Kidney Disease

    PubMed Central

    Hirai, Keiji; Ookawara, Susumu; Morishita, Yoshiyuki

    2016-01-01

    Sarcopenia and physical inactivity synergistically progress in patients with chronic kidney disease (CKD) and are strong predictors of mortality in this population. Exercise training and essential amino acids and vitamin D supplements may contribute to improving sarcopenia and physical inactivity in CKD patients. PMID:27570755

  6. Diagnosis of sickle cell disease in chronically transfused patients.

    PubMed

    Oliveri, D R; Ober, C L; Horwitz, A L

    1992-01-01

    Standard electrophoretic methods for the diagnosis of hemoglobinopathies are confounded in individuals chronically transfused. We present the accurate diagnosis of sickle cell disease in two such transfused patients by the application of polymerase chain reaction technology to analyze patient's hemoglobin beta-chain genes directly.

  7. Managing diabetes in hospitalized patients with chronic kidney disease.

    PubMed

    Iyer, Shridhar N; Tanenberg, Robert J

    2016-04-01

    Because few randomized trials have been done, little is known about appropriate glycemic control in hospitalized patients with chronic kidney disease (CKD) and diabetes mellitus. These patients are at high risk of hypoglycemia. It is prudent to monitor glucose closely, set less-stringent blood sugar goals, avoid oral antidiabetic agents, and possibly reduce insulin dosage. PMID:27055204

  8. Assessing the Executive Function Deficits of Patients with Parkinsons Disease

    ERIC Educational Resources Information Center

    Culbertson, William; Moberg, Paul; Duda, John; Stern, Matthew; Weintraub, Daniel

    2004-01-01

    The aim of the study was to investigate the utility of the Tower of London-Drexel (TOL DX ) in assessing the executive deficits associated with Parkinsons disease (PD). We sought to determine whether the TOL DX would differentiate between (a) patients with PD and healthy control participants (HCP), (b) demented and nondemented patients, and (c)…

  9. Sarcopenia and Physical Inactivity in Patients With Chronic Kidney Disease.

    PubMed

    Hirai, Keiji; Ookawara, Susumu; Morishita, Yoshiyuki

    2016-05-01

    Sarcopenia and physical inactivity synergistically progress in patients with chronic kidney disease (CKD) and are strong predictors of mortality in this population. Exercise training and essential amino acids and vitamin D supplements may contribute to improving sarcopenia and physical inactivity in CKD patients. PMID:27570755

  10. Exercise Decreases Risk of Future Active Disease in Inflammatory Bowel Disease Patients in Remission

    PubMed Central

    Jones, Patricia D.; Kappelman, Michael D.; Martin, Christopher F.; Chen, Wenli; Sandler, Robert S.; Long, Millie D.

    2015-01-01

    Background Although exercise impacts quality of life in patients with inflammatory bowel disease (IBD), little is known about its role in disease activity. Among IBD patients in remission, we aimed to evaluate the association between exercise and subsequent active disease. Methods We performed a prospective study using the Crohn's and Colitis Foundation of America (CCFA) Partners Internet-based cohort of individuals with self-reported IBD. We identified participants in remission, defined as short Crohn's disease activity index (sCDAI) <150 or simple clinical colitis activity index (SCCAI) ≤2. The primary exposure was exercise status, measured using the validated Godin leisure time activity index. The primary study outcome, assessed after six months, was active disease defined using the above disease activity index thresholds. We used bivariate and multivariate analyses to describe the independent association between exercise and risk of active disease. Results We identified 1308 patients with Crohn's Disease (CD) and 549 with ulcerative or indeterminate colitis (UC/IC) in remission, of whom 227(17.4%) with CD and 135 (24.6%) with UC/IC developed active disease after 6 months. Higher exercise level was associated with decreased risk of active disease for CD (adjusted RR 0.72, 95% CI 0.55-0.94) and UC/IC (adjusted RR 0.78, 95% CI 0.54-1.13). Conclusions In patients with CD in remission, those with higher exercise levels were significantly less likely to develop active disease at six months. In patients with UC/IC in remission, patients with higher exercise levels were less likely to develop active disease at six months, however this was not statistically significant. PMID:25723616

  11. Study of Hepatic Osteodystrophy in Patients with Chronic Liver Disease

    PubMed Central

    Karoli, Yogesh; Fatima, Jalees; Manhar, Mohammad

    2016-01-01

    Introduction Chronic Liver Disease (CLD) is a major cause of morbidity and mortality worldwide. It involves haemodynamic and metabolic complications. Hepatic Osteodystrophy is a metabolic bone disease that may occur in individuals with chronic liver disease. It can significantly affect morbidity and quality of life of these patients. Fractures are also associated with an excess mortality. It has been an under recognized and inadequately studied complication among Indian population. An early diagnosis is essential to correct reversible risk factors which predispose to bone mass loss. Aim To assess the prevalence of metabolic bone disease and identify the risk factors associated with hepatic osteodystrophy in patients with cirrhosis. Materials and Methods This was an observational, cross-sectional, hospital based study conducted at a medical college hospital. All patients more than 20-year-old, diagnosed with chronic liver disease/Cirrhosis were enrolled. They were subjected to haematological, biochemical investigations, evaluation of Vitamin D and other hormonal parameters. Bone Mineral Density (BMD) was estimated by Dual Energy X-ray Absorptiometry (DEXA). Results A total of 72 patients with mean age 50.04±11.24 years were included in the study. Amongst causes of chronic liver disease were alcoholic liver disease 22 (30.6%), CLD due to hepatitis B 24 (33.3%) and chronic hepatitis C 26 (36.1%). Twenty one (29.2%) patients had normal BMD while 51 (70.8%) had a low BMD. Out of these 51 patients, 36 (70.6%) were diagnosed of osteopenia and 15 (29.4%) others were found to have osteoporosis. Vitamin D levels and severity of liver disease had correlation with low BMD. Conclusion Low BMD is highly prevalent in patients with chronic liver disease of variable aetiologies. We advocate more randomised and prospective studies to be conducted on homogeneous groups with chronic liver disease in its various stages. In view of numerous therapeutic options available both for liver

  12. Online Patient Education for Chronic Disease Management: Consumer Perspectives.

    PubMed

    Win, Khin Than; Hassan, Naffisah Mohd; Oinas-Kukkonen, Harri; Probst, Yasmine

    2016-04-01

    Patient education plays an important role in chronic disease management. The aim of this study is to identify patients' preferences in regard to the design features of effective online patient education (OPE) and the benefits. A review of the existing literature was conducted in order to identify the benefits of OPE and its essential design features. These design features were empirically tested by conducting survey with patients and caregivers. Reliability analysis, construct validity and regression analysis were performed for data analysis. The results identified patient-tailored information, interactivity, content credibility, clear presentation of content, use of multimedia and interpretability as the essential design features of online patient education websites for chronic disease management. PMID:26846749

  13. Online Patient Education for Chronic Disease Management: Consumer Perspectives.

    PubMed

    Win, Khin Than; Hassan, Naffisah Mohd; Oinas-Kukkonen, Harri; Probst, Yasmine

    2016-04-01

    Patient education plays an important role in chronic disease management. The aim of this study is to identify patients' preferences in regard to the design features of effective online patient education (OPE) and the benefits. A review of the existing literature was conducted in order to identify the benefits of OPE and its essential design features. These design features were empirically tested by conducting survey with patients and caregivers. Reliability analysis, construct validity and regression analysis were performed for data analysis. The results identified patient-tailored information, interactivity, content credibility, clear presentation of content, use of multimedia and interpretability as the essential design features of online patient education websites for chronic disease management.

  14. Motivational interviewing to engage patients in chronic kidney disease management.

    PubMed

    Martino, Steve

    2011-01-01

    Patients with chronic kidney disease (CKD) must manage numerous medical treatments and lifestyle changes that strain their treatment adherence. An important strategy to improve adherence is to activate the patients' motivation to manage their CKD. This article describes an approach for enhancing patients' motivation for change, called motivational interviewing (MI), a treatment that is increasingly being used in health care settings to counsel patients with chronic diseases. Its basic principles, techniques, empirical support, published applications for improving CKD patients' self-management, and how to learn MI are presented. Research is needed to determine the efficacy and mechanisms of MI for CKD treatment as well as the development of innovative ways to deliver it to patients and train busy health care practitioners in the approach.

  15. Mitochondrial disease patients' perception of dietary supplements' use.

    PubMed

    Karaa, Amel; Kriger, Joshua; Grier, Johnston; Holbert, Amy; Thompson, John L P; Parikh, Sumit; Hirano, Michio

    2016-09-01

    Surveys of mitochondrial disease physicians conducted through the Mitochondrial Medicine Society have shown that virtually all providers recommend a variety of dietary supplements as treatments to their patients in an effort to enhance energy production and reduce oxidative stress. In this survey, we asked patients and their parents about their experiences taking these dietary supplements for mitochondrial disease. The survey was disseminated through the North American Mitochondrial Disease Consortium (NAMDC) and the Rare Disease Clinical Research Network (RDCRN) registries and gathered 162 responses. The study ascertained each patient's mitochondrial disease diagnosis, dietary supplements used, adjunct therapy, and effects of the supplements on symptoms and health. Regardless of the specific underlying mitochondrial disease, the majority of the survey respondents stated they are or have been on dietary supplements. Most patients take more than four supplements primarily coenzyme Q10, l-carnitine, and riboflavin. The majority of patients taking supplements reported health benefits from the supplements. The onset of perceived benefits was between 2weeks to 3months of initiating intake. Supplements seem to be safe, with only 28% of patients experiencing mild side-effects and only 5.6% discontinuing their intake due to intolerance. Only 9% of patients had insurance coverage for their supplements and when paying out of pocket, 95% of them spend up to $500/month. Despite the use of concomitant therapies (prescribed medications, physical therapy, diet changes and other), 45.5% of patients think that dietary supplements are the only intervention improving their symptoms. Some limitations of this study include the retrospective collection of data probably associated with substantial recall bias, lack of longitudinal follow up to document pre- and post-supplement clinical status and second hand reports by parents for children which may reflect parents' subjective

  16. Mitochondrial disease patients' perception of dietary supplements' use.

    PubMed

    Karaa, Amel; Kriger, Joshua; Grier, Johnston; Holbert, Amy; Thompson, John L P; Parikh, Sumit; Hirano, Michio

    2016-09-01

    Surveys of mitochondrial disease physicians conducted through the Mitochondrial Medicine Society have shown that virtually all providers recommend a variety of dietary supplements as treatments to their patients in an effort to enhance energy production and reduce oxidative stress. In this survey, we asked patients and their parents about their experiences taking these dietary supplements for mitochondrial disease. The survey was disseminated through the North American Mitochondrial Disease Consortium (NAMDC) and the Rare Disease Clinical Research Network (RDCRN) registries and gathered 162 responses. The study ascertained each patient's mitochondrial disease diagnosis, dietary supplements used, adjunct therapy, and effects of the supplements on symptoms and health. Regardless of the specific underlying mitochondrial disease, the majority of the survey respondents stated they are or have been on dietary supplements. Most patients take more than four supplements primarily coenzyme Q10, l-carnitine, and riboflavin. The majority of patients taking supplements reported health benefits from the supplements. The onset of perceived benefits was between 2weeks to 3months of initiating intake. Supplements seem to be safe, with only 28% of patients experiencing mild side-effects and only 5.6% discontinuing their intake due to intolerance. Only 9% of patients had insurance coverage for their supplements and when paying out of pocket, 95% of them spend up to $500/month. Despite the use of concomitant therapies (prescribed medications, physical therapy, diet changes and other), 45.5% of patients think that dietary supplements are the only intervention improving their symptoms. Some limitations of this study include the retrospective collection of data probably associated with substantial recall bias, lack of longitudinal follow up to document pre- and post-supplement clinical status and second hand reports by parents for children which may reflect parents' subjective

  17. [Comparison and outcome of prevalence of concurrent diseases in patients with urological malignant diseases].

    PubMed

    Yoshinaga, Atsushi; Hayashi, Tetsuo; Yoshida, Soichiro; Ohno, Rena; Ishii, Nobuyuki; Terao, Toshiya; Watanabe, Toru; Yamada, Takumi

    2006-07-01

    We compared the prevalence of concurrent diseases (diabetes mellitus, hypertension, ischemic heart diseases and apoplexy) in patients with renal cell carcinoma, bladder carcinoma and prostatic carcinoma diagnosed in our department with that in all patients in our department analyzed using Mantel-Haenszel regression. In hypertension, there was a significantly high prevalence of patients with renal cell carcinoma (p < 0.05) in males and females, and prostatic carcinoma (p < 0.05). In diabetis mellitus, ischemic heart diseases and apoplexy, no apparent characteristic of prevalence was recognized. The close relationship between renal cell carcinoma, prostatic carcinoma and hypertension in this study corresponded with previous reports.

  18. Cancer of the small intestine in patients with Crohn's disease.

    PubMed

    Higashi, Daijiro; Futami, Kitaro; Kojima, Daibo; Futatsuki, Ryo; Ishibashi, Yukiko; Maekawa, Takafumi; Yano, Yutaka; Takatsu, Noritaka; Hirai, Fumihito; Matsui, Toshiyuki; Iwashita, Akinori

    2013-07-01

    Due to an increase in the number of long-term cases of Crohn's disease, the risk of combined cancer in these patients has been assessed in numerous articles. Most of these reports have involved patients with cancer of the large intestine, while cases of cancer of the small intestine combined with Crohn's disease are very rare. We experienced two cases of cancer of the small intestine combined with Crohn's disease. In both cases, the patients had suffered from Crohn's disease for over 10 years and a second operation was performed after a long period without treatment following the first operation, which had achieved a favorable outcome. In both cases of combined cancer, the patients experienced ileus; however, it was difficult to discern this from ileus due to the presence of Crohn's disease. Therefore, making a definitive diagnosis of combined cancer was not possible before surgery, and the definitive diagnosis was obtained based on an intraoperative pathological diagnosis. It is thought that tumor markers transition in a manner parallel to the progression of cancer, providing a clue for cancer diagnosis. In patients with Crohn's disease, there is a pressing need to establish a method for diagnosing cancer of the small intestine at an early stage.

  19. Tachyarrhythmia in patients with congenital heart disease: inevitable destiny?

    PubMed

    Teuwen, C P; Taverne, Y J H J; Houck, C; Götte, M; Brundel, B J J M; Evertz, R; Witsenburg, M; Roos-Hesselink, J W; Bogers, A J J C; de Groot, N M S

    2016-03-01

    The prevalence of patients with congenital heart disease (CHD) has increased over the last century. As a result, the number of CHD patients presenting with late, postoperative tachyarrhythmias has increased as well. The aim of this review is to discuss the present knowledge on the mechanisms underlying both atrial and ventricular tachyarrhythmia in patients with CHD and the advantages and disadvantages of the currently available invasive treatment modalities.

  20. Memantine-associated hyperkalaemia in a patient with Alzheimer's disease.

    PubMed

    Tsukamoto, Tatsuo; Yamada, Hidetaka; Uchimura, Naohisa

    2013-09-01

    Memantine is an N-methyl-D-aspartate glutamate receptor antagonist that may improve cognitive functions in patients with Alzheimer's disease. It is predominantly excreted unchanged via the kidneys, and patients with decreased creatinine clearance must be treated with lower doses of memantine. However, it is unclear whether memantine itself can lead to renal dysfunction and/or hyperkalaemia. We report a patient with renal impairment and hyperkalaemia possibly associated with memantine administration.

  1. Graves' disease in a dialysis dependent chronic renal failure patient

    PubMed Central

    Nair, C. G.; Jacob, P.; Menon, R.; Babu, M. J. C.

    2014-01-01

    Thyroid hormone level may be altered in chronic renal failure patients. Low levels of thyroxine protect the body from excess protein loss by minimizing catabolism. Hyperthyroidism is rarely encountered in end-stage dialysis dependent patients. Less than 10 well-documented cases of Graves' disease (GD) are reported in literature so far. We report a case of GD in a patient on dialysis. PMID:25484538

  2. Sexually transmitted diseases among psychiatric patients in Brazil.

    PubMed

    Dutra, Maria Rita Teixeira; Campos, Lorenza Nogueira; Guimarães, Mark Drew Crosland

    2014-01-01

    Sexually transmitted diseases are still highly prevalent worldwide and represent an important public health problem. Psychiatric patients are at increased risk of sexually transmitted diseases but there are scarce published studies with representative data of this population. We sought to estimate the prevalence and correlates of self-reported sexually transmitted diseases among patients with mental illnesses under care in a national representative sample in Brazil (n=2145). More than one quarter of the sample (25.8%) reported a lifetime history of sexually transmitted disease. Multivariate analyses showed that patients with a lifetime sexually transmitted disease history were older, had history of homelessness, used more alcohol and illicit drugs, suffered violence, perceived themselves to be at greater risk for HIV and had high risk sexual behavioral: practised unprotected sex, started sexual life earlier, had more than ten sexual partners, exchanged money and/or drugs for sex and had a partner that refused to use condom. Our findings indicate a high prevalence of self-reported sexually transmitted diseases among psychiatric patients in Brazil, and emphasize the need for implementing sexually transmitted diseases prevention programs in psychiatric settings, including screening, treatment, and behavioral modification interventions.

  3. [Airway Management in a Patient with Forestier's Disease].

    PubMed

    Kondo, Yuriko; Echigo, Noriyuki; Akata, Mariko; Yokoyama, Kaori; Takasugi, Naoya; Goto, Takahisa

    2016-04-01

    Airway management in a patient with Forestier's disease can be challenging clinically because this disease may cause not only dysphagia but also airway obstruction due to the compression of the pharynx and esophagus caused by the ossification of anterior longitudinal ligament. We report our anesthetic management in a patient with Forestier's disease. Meanwhile, we studied the causes of difficult airway and the most suitable airway device for a patient with this disease from a standpoint of anatomy of upper airway. Our study indicated the possibility that the most suitable airway device differed depending on the actual location of the ossification of anterior longitudinal ligament in the cervical spine and that more prudent airway management would be required if its lesion location extended to upper cervical spine. PMID:27188118

  4. Bilateral impacted femoral neck fracture in a renal disease patient.

    PubMed

    Devkota, Pramod; Ahmad, Shiraz

    2013-09-01

    Spontaneous bilateral femoral neck facture in a renal disease patient is not common. We report a case of 47-year-old female patient with chronic renal failure and on regular hemodialysis for the past 5 years who sustained bilateral impacted femoral neck fracture without history of trauma and injury and refused any surgical intervention. The patient was mobilised on wheel chair one year after the fractures. The cause of the fracture and the literature review of the bilateral femoral neck fracture in renal disease are discussed.

  5. Endoscopic Evaluation and Management of the Postoperative Crohn's Disease Patient.

    PubMed

    Hashash, Jana G; Binion, David G

    2016-10-01

    Approximately 70% of patients with Crohn's disease (CD) undergo surgical resection for the treatment of medically refractory disease or its complications. The sickest cohort of CD patients experience rapid postoperative relapse at the anastomotic site. Over the past 2 decades, the types of surgical anastomoses used in CD reconstruction have changed; end-to-side and end-to-end anastomoses have been surpassed by the more rapidly created side-to-side anastomoses. This article provides a review of the timing and purpose of endoscopic evaluation in postoperative CD patients and pragmatic information regarding interpretation of endoscopic findings at the different types of surgical anastomoses after ileocecal resection. PMID:27633596

  6. Charles Fabry métrologue

    NASA Astrophysics Data System (ADS)

    Bouchareine, P.

    We describe the two main experimental results obtained by Charles Fabry in fundamental metrology. First, the measurement of the volume of a quartz cube was achieved with Macé de Lépinay, conducting to an enhanced value of the ratio between one "litre" and one cubic decimetre. The probably most important experimental result is the second measurement of the "metre" in optical wavelengths, made in "Conservatoire des arts et métiers”, some years after the first one achieved by Albert Michelson with Jean-René Benoît in the "Bureau international des poids et mesures" in Sèvres. We compare the two experimental devices and processes, the results and their uncertainties. The very good agreement between the two interferometrists was an argument to convince the international community that an atomic wavelength is a better standard for lengths measurements than the platinum Prototype, and lead to the two new definitions of the "mètre" in 1960 and1983. Nous décrivons les deux principaux résultats obtenus par Charles Fabry en métrologie fondamentale. Tout d'abord la mesure du volume d'un cube de quartz a été faite avec Macé de Lépinay, conduisant à une meilleure valeur du rapport du litre au décimètre cube. Le résultat expérimental le plus significatif est probablement la mesure du mètre en longueurs d'onde lumineuses, effectuée au Conservatoire des arts et métiers, quelques années après la première mesure de ce type faite par Albert Michelson avec Jean-René Benoît au Bureau international des poids et mesures à Sèvres. Nous comparons les deux dispositifs expérimentaux et leur exploitation, les résultats et leurs incertitudes. Le très bon accord entre les deux expérimentateurs fut décisif pour convaincre la communauté internationale que la longueur d'onde d'une radiation atomique est un meilleur étalon pour les mesures de longueur que le Prototype international en platine iridié, et conduisit aux deux nouvelles définitions du mètre de 1960

  7. Mutation analysis of 28 gaucher disease patients: The Australasian experience

    SciTech Connect

    Lewis, B.D.; Nelson, P.V.; Robertson, E.F.; Morris, C.P.

    1994-01-15

    Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associated only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.

  8. Importance of Social Relationships in Patients with Chronic Respiratory Diseases.

    PubMed

    Kurpas, Donata; Szwamel, Katarzyna; Mroczek, Bozena

    2016-01-01

    The literature lacks reports on the role of the social relationships domain (SRD) of quality of life (QoL) in shaping care for patients with chronic respiratory diseases in primary care. In this study we examined a group of 582 patients with chronic respiratory diseases and chronic non-respiratory diseases recruited from 199 primary care centers. In the patients with chronic respiratory diseases, higher SRD correlated with more frequent patient visits due to medical issue, fewer district nurse interventions over the past 12 months, less frequent hospitalizations over the past 3 years, and fewer chronic diseases. In these patients, a high SRD was most effectively created by high QoL in the Psychological, Environmental, and Physical domains, and the satisfaction with QoL. Programs for preventing a decline in SRD should include patients with low scores in the Psychological, Environmental, and Physical domains, those who show no improvement in mental or somatic well-being in the past 12 months, those with a low level of positive mental attitudes, unhealthy eating habits, and with low levels of met needs. Such programs should include older widows and widowers without permanent relationships, with only primary education, living far from a primary care center, and those whose visits were not due to a medical issue.

  9. Importance of Social Relationships in Patients with Chronic Respiratory Diseases.

    PubMed

    Kurpas, Donata; Szwamel, Katarzyna; Mroczek, Bozena

    2016-01-01

    The literature lacks reports on the role of the social relationships domain (SRD) of quality of life (QoL) in shaping care for patients with chronic respiratory diseases in primary care. In this study we examined a group of 582 patients with chronic respiratory diseases and chronic non-respiratory diseases recruited from 199 primary care centers. In the patients with chronic respiratory diseases, higher SRD correlated with more frequent patient visits due to medical issue, fewer district nurse interventions over the past 12 months, less frequent hospitalizations over the past 3 years, and fewer chronic diseases. In these patients, a high SRD was most effectively created by high QoL in the Psychological, Environmental, and Physical domains, and the satisfaction with QoL. Programs for preventing a decline in SRD should include patients with low scores in the Psychological, Environmental, and Physical domains, those who show no improvement in mental or somatic well-being in the past 12 months, those with a low level of positive mental attitudes, unhealthy eating habits, and with low levels of met needs. Such programs should include older widows and widowers without permanent relationships, with only primary education, living far from a primary care center, and those whose visits were not due to a medical issue. PMID:27358182

  10. Hepatitis B Serology in Patients with Rheumatic Diseases

    PubMed Central

    Feuchtenberger, Martin; Schäfer, Arne; Philipp Nigg, Axel; Rupert Kraus, Michael

    2016-01-01

    Background: Only limited data are available on the prevalence of hepatitis B in patients with proven rheumatic diseases and thus the risk of reactivation under immunosuppressive therapy. Objective: To analyse hepatitis B serology in patients with rheumatic diseases prior to therapy. Method: In total, 1,338 patient records were analysed for HBsAg, HBsAb and HBcAb in a cross-sectional, single-centre study between 2011 and 2015 at first presentation. Data acquisition was realized using electronic patient files created during routine care. The main variables considered as predictors for HBV reactivation included (i) the exact type of rheumatic disease and (ii) the therapeutically induced immunosuppression. Results: Overall, 5.9% of patients (n=79) had proven contact with hepatitis B (HBcAb positive), and HBsAb were not detected in 1.3% (n=18). The rate of vaccinated subjects was 7.8%. HBsAg was detected in 3 patients (0.2%). In addition, 70.3% of patients were treated during the course of rheumatologic disease previously or currently with glucocorticoids, 85.2% with disease-modifying anti-rheumatic drugs (DMARDs) and 20.1% with a biologic agent (e.g., anti-IL-6, anti-TNFalpha, anti-CD20, CTLA4Ig or anti-IL-12/23). Conclusion: Prevalence of hepatitis B serostatus in the analysed rheumatic patients regarding HBs-Ag and HBcAb with or without HBsAb prior to therapy does not differ from the data published for the general population in Germany. However, the rate of hepatitis B vaccinated patients was lower. In general, a significant portion of patients (5.9%) has been exposed to HBV and therefore exhibited an increased risk of reactivation of hepatitis B when undergoing immunosuppressive therapy. PMID:27708728

  11. Evidence for severe atherosclerotic changes in chronic hemodialysis patients: comparative autopsy study against cardiovascular disease patients without chronic kidney disease.

    PubMed

    Suzuki, Chigure; Nakamura, Satoko; Ishibashi-Ueda, Hatsue; Yoshihara, Fumiki; Kawano, Yuhei

    2011-02-01

    Atherosclerosis is a major cause of mortality and morbidity among hemodialysis patients, but whether it is more severe in hemodialysis patients than in cardiovascular disease patients without chronic kidney disease is unclear. We examined 46 autopsy patients who had undergone hemodialysis, and age and sex-matched 46 patients with cardiovascular disease and an eGFR of >60 mL/min/1.73 m(2). There was no difference in the prevalence of diabetes or hypertension between the groups. We divided the aorta into four segments: A, ascending artery to arch; B, descending artery to diaphragm; C, suprarenal; and D, infrarenal. We used the classification of the American Heart Association to evaluate atherosclerosis progression. Distribution was scored by the extent to which each segment was damaged: 0, none; 1, less than 1/3; 2, more than 1/3 to less than 2/3; 3, more than 2/3. Histological examination revealed that the progression score (P < 0.05) and distribution score (P<0.005) were more severe in the hemodialysis group, especially in segment A. Regression analysis showed that atherosclerosis of segment A was related to age, gender, dyslipidemia, smoking, hemodialysis therapy, and hemodialysis duration. In hemodialysis patients, atherosclerotic changes in the aorta were more severe than in cardiovascular disease patients with an eGFR of >60 mL/min/1.73 m(2). Aortic atherosclerosis was aggravated by traditional and chronic kidney disease-related risk factors.

  12. Phenotype-genotype correlations in patients with Wilson's disease.

    PubMed

    Ferenci, Peter

    2014-05-01

    There is considerable phenotypic variation in Wilson's disease (WD). Some patients present with hepatic disease during the first decade of life and some with neurological degeneration in adolescence or adult life, with or without overt liver disease. Although the absence of neurologic disease in patients with liver disease in childhood or adolescence can be explained by the limited time exposure of the central nervous system to copper toxicity, it is surprising that late-onset neurologic WD can occur without any evidence of liver involvement. This huge variability in the clinical presentation of WD in general reflects our limited knowledge on the natural history of WD. Genetic association studies require the phenotype to be defined as accurately as possible.

  13. Management of Alcohol Dependence in Patients with Liver Disease

    PubMed Central

    Addolorato, Giovanni; Mirijello, Antonio; Leggio, Lorenzo; Ferrulli, Anna; Landolfi, Raffaele

    2016-01-01

    Alcohol dependence represents a chronic and relapsing disease affecting nearly 10% of the general population both in the United States and in Europe, with a widespread burden of morbidity and mortality. Alcohol dependence represents the most common cause of liver damage in the Western Countries. Although alcoholic liver disease is associated primarily with heavy drinking, continued alcohol consumption, even in low doses after the onset of liver disease, increases the risk of severe consequences, including mortality. Consequently the ideal treatment of patients affected by alcohol dependence and alcoholic liver disease should aim at achieving long-term total alcohol abstinence and preventing relapse. The aim of the present review is to provide an update on the management of alcohol dependence in patients with alcoholic liver disease. Increasing evidences suggests the usefulness of psychosocial interventions and medications combined in order to reduce alcohol intake, promote abstinence and prevent relapse in alcohol dependent patients. Disulfiram, naltrexone and acamprosate have been approved for this indication; gamma-hydroxybutyric acid (GHB) is approved in Italy and Austria. However, these drugs have not been tested in patients with advanced liver disease. Amongst other emerging pharmacotherapies for alcoholism, topiramate, ondansetron, and baclofen seem the most promising ones. Both topiramate and ondansetron hold a safe profile in alcoholic patients; however, none of them has been tested in alcoholic patients with advanced liver disease. To date, baclofen represents the only anti-craving medication formally tested in a randomized clinical trial in alcoholic patients affected by liver cirrhosis, although additional confirmatory studies are warranted. PMID:23456576

  14. Excessive daytime sleepiness in patients with Parkinson's disease.

    PubMed

    Knie, Bettina; Mitra, M Tanya; Logishetty, Kartik; Chaudhuri, K Ray

    2011-03-01

    Excessive daytime sleepiness (EDS) is described as inappropriate and undesirable sleepiness during waking hours and is a common non-motor symptom in Parkinson's disease, affecting up to 50% of patients. EDS has a large impact on the quality of life of Parkinson's disease patients as well as of their caregivers, in some cases even more than the motor symptoms of the disease. Drug-induced EDS is a particular problem as many dopamine agonists used for the treatment of Parkinson's disease have EDS as an adverse effect. Dopaminergic treatment may also render a subset of Parkinson's disease patients at risk for sudden-onset sleep attacks that occur without warning and can be particularly hazardous if the patient is driving. This demonstrates the need for early recognition and management not only to increase health-related quality of life but also to ensure patient safety. There are many assessment tools for EDS, including the Epworth Sleepiness Scale (ESS) and the Multiple Sleep Latency Test (MSLT), although only the Parkinson's Disease Sleep Scale (PDSS) and the SCales for Outcomes in PArkinson's Disease-Sleep (SCOPA-S) are specifically validated for Parkinson's disease. Polysomnography can be used when necessary. Management comprises non-pharmacological and pharmacological approaches. Non-pharmacological approaches can be the mainstay of treatment for mild to moderate EDS. Advice on good sleep hygiene is instrumental, as pharmacological approaches have yet to provide consistent and reliable results without significant adverse effects. The efficacy of pharmacological treatment of EDS in Parkinson's disease using wakefulness-promoting drugs such as modafinil remains controversial. Further areas of research are now also focusing on adenosine A(2A) receptor antagonists, sodium oxybate and caffeine to promote wakefulness. A definitive treatment for the highly prevalent drug-induced EDS has not yet been found. PMID:21323392

  15. [Verbal ability of Alzheimer's disease patients and very elderly control patients using the Aachen aphasia test].

    PubMed

    Ecklin, R; Schönenberger, P M

    1992-01-01

    We assessed language function, using the Aachen aphasia test (AAT), in 14 subjects with Alzheimer's disease and 6 control patients. Aphasia did not occur in control patients, but in 11 of 14 Alzheimer's disease patients. Impairment of object naming was the most prevalent abnormality. Performance in AAT subtests repetition, written language, object naming, comprehension and token test correlated strongly with Mini-Mental State scores.

  16. Inspiratory muscle training in the patient with neuromuscular disease.

    PubMed

    McCool, F D; Tzelepis, G E

    1995-11-01

    Pulmonary complications due to respiratory muscle dysfunction are commonly a source of morbidity and mortality in patients with neuromuscular diseases. This review discusses the adverse effects of respiratory muscle weakness on pulmonary mechanics and examines the role that inspiratory muscle training may play in reversing pulmonary dysfunction in these individuals. In asymptomatic persons, it is well established that the inspiratory muscles can be trained to increase both force and endurance. In patients with neuromuscular diseases, the effects of training protocols on force and endurance are more controversial. This article reviews seven studies that have evaluated respiratory muscle training in a total of 75 patients with varied neuromuscular disorders. Training regimens included breathing through inspiratory resistive loads and isocapnic hyperpnea. Despite methodologic differences among studies, investigators have generally shown that the inspiratory muscles are similar to other skeletal muscle groups in that they can be trained for both force and endurance in these patients. The training-related improvements in inspiratory muscle performance are more pronounced in patients who are less severely affected by their disease. In those patients who have disease to the extent that they are already retaining carbon dioxide, there is little change in force or endurance with training. In these individuals, the inspiratory muscles may already be working at a level sufficiently severe to provide a training stimulus with each breath. No adverse effects of inspiratory muscle training were reported. Inspiratory muscle training can improve force and endurance in patients with neuromuscular weakness.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7480122

  17. Sclerostin serum levels in patients with systemic autoimmune diseases.

    PubMed

    Fernández-Roldán, Concepción; Genre, Fernanda; López-Mejías, Raquel; Ubilla, Begoña; Mijares, Verónica; Cano, Daniel Sánchez; Robles, Concepción López; Callejas-Rubio, José Luis; Fernández, Raquel Ríos; Ruiz, Manuela Expósito; González-Gay, Miguel Á; Ortego Centeno, Norberto

    2016-01-01

    Systemic autoimmune diseases (SADs) are associated with lower bone mass and an increased risk of fractures. Sclerostin has a pivotal role in bone metabolism. Available data on circulating sclerostin levels in healthy subjects are limited, whereas those in SAD patients are absent. Our objective was to determine circulating sclerostin concentrations in systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Crohn's disease (CD) patients, and to analyze the factors associated with sclerostin concentrations. In this cross-sectional case-control study, serum sclerostin levels were measured in 38 SLE patients, 20 CD patients, 8 SSc patients and 20 healthy controls using a sclerostin ELISA. The mean values of the sclerostin (95% confidence interval) were 35.36 pmol l(-1) (12-101) in patients and 33.92 pmol l(-1) (2.31-100) in control subjects. The mean sclerostin value was 36.4 pmol l(-1) (22.1-48.5) in SLE patients, 26.7 pmol l(-1) (17.3-36.3) in CD patients and 51.8 pmol l(-1) (26.5-77.1) in SSc patients (P=0.001). Serum sclerostin levels were positively correlated with age (P<0.001), body mass index (BMI) (P=0.01) and lumbar spine Z-score (P=0.001) and negatively with creatinine clearance (P=0.001). Glucocorticoid treatment did not affect sclerostin levels. Sclerostin levels seem to have a heterogeneous pattern in different autoimmune diseases. SLE and SSc patients did not differ from healthy controls regarding sclerostin levels. The CD group had significantly lower values compared with SSc patients. Factors associated with sclerostin levels in autoimmune diseases seem to be the same than in the general population. PMID:26909149

  18. Endostatin level in cerebrospinal fluid of patients with Alzheimer's disease.

    PubMed

    Salza, Romain; Oudart, Jean-Baptiste; Ramont, Laurent; Maquart, François-Xavier; Bakchine, Serge; Thoannès, Henri; Ricard-Blum, Sylvie

    2015-01-01

    The aim of this study was to measure the level of endostatin, a fragment of collagen XVIII that accumulates in the brain of patients with Alzheimer's disease (AD), in the cerebrospinal fluids (CSF) of patients with neurodegenerative diseases. The concentrations of total protein, endostatin, amyloid-β1-42 peptide, tau, and hyperphosphorylated tau proteins were measured by enzyme-linked immunosorbent assay in CSF of patients with AD (n = 57), behavioral frontotemporal dementia (bvFTD, n = 22), non AD and non FTD dementia (nAD/nFTD, n = 84), and 45 subjects without neurodegenerative diseases. The statistical significance of the results was assessed by Mann-Whitney and Kruskal and Wallis tests, and by ROC analysis. The concentration of endostatin in CSF was higher than the levels of the three markers of AD both in control subjects and in patients with neurodegenerative diseases. The endostatin/amyloid-β1-42 ratio was significantly increased in patients with AD (257%, p < 0.0001) and nAD/nFTD (140%, p < 0.0001) compared to controls. The endostatin/tau protein ratio was significantly decreased in patients with AD (-49%, p < 0.0001) but was increased in bvFTD patients (89%, p < 0.0001) compared to controls. In the same way, the endostatin/hyperphosphorylated tau protein ratio was decreased in patients with AD (-21%, p = 0.0002) but increased in patients with bvFTD (81%, p = 0.0026), compared to controls. The measurement of endostatin in CSF and the calculation of its ratio relative to well-established AD markers improve the diagnosis of bvFTD patients and the discrimination of patients with AD from those with bvFTD and nAD/nFTD. PMID:25408220

  19. Cavernous sinus sampling in patients with Cushing's disease.

    PubMed

    Burkhardt, Till; Flitsch, Jörg; van Leyen, Philine; Sauer, Nina; Aberle, Jens; Grzyska, Ulrich; Lüdecke, Dieter K

    2015-02-01

    OBJECT Correct diagnosis and precise localization of adenomas in patients with Cushing's disease are essential for avoiding unsuccessful transsphenoidal pituitary exploration. In addition to the well-established inferior petrosal sinus sampling, preoperative cavernous sinus sampling (CSS) was introduced as a potentially improved way to predict adenoma lateralization. The authors present their results with CSS in a consecutive series of patients with Cushing's disease. METHODS During 1999-2014, transsphenoidal surgeries were consecutively performed in 510 patients with Cushing's disease. For most patients, suppression of cortisol in high-dose dexamethasone tests and stimulation of adrenocorticotropic hormone and cortisol after administration of corticotropin-releasing hormone were sufficient to prove the diagnosis of adrenocorticotropic hormone-dependent hypercortisolism. Of the 510 patients, 67 (13%) were referred to the department of neuroradiology for CSS according to the technique of Teramoto. The indications for CSS were unclear endocrine test results or negative MRI results. Data for all patients were retrospectively analyzed. RESULTS A central/peripheral gradient was found in 59 patients; lateralization to the left or right side was found in 51. For 8 patients with a central/peripheral gradient, no left/right gradient could be determined. For another 8 patients with equivocal test results, no central/peripheral gradient was found. No severe CSS-associated complications were encountered. Of the 51 patients who underwent transsphenoidal surgery, the predicted lateralization was proven correct for 42 (82%). CONCLUSIONS As MRI techniques have improved, the number of potential candidates for this invasive method has decreased in the past decade. However, because detecting minute adenomas remains problematic, CSS remains a useful diagnostic tool for patients with Cushing's disease.

  20. Nonpharmacological treatments for patients with Parkinson's disease.

    PubMed

    Bloem, Bastiaan R; de Vries, Nienke M; Ebersbach, Georg

    2015-09-15

    Since 2013, a number of studies have enhanced the literature and have guided clinicians on viable treatment interventions outside of pharmacotherapy and surgery. Thirty-three randomized controlled trials and one large observational study on exercise and physiotherapy were published in this period. Four randomized controlled trials focused on dance interventions, eight on treatment of cognition and behavior, two on occupational therapy, and two on speech and language therapy (the latter two specifically addressed dysphagia). Three randomized controlled trials focused on multidisciplinary care models, one study on telemedicine, and four studies on alternative interventions, including music therapy and mindfulness. These studies attest to the marked interest in these therapeutic approaches and the increasing evidence base that places nonpharmacological treatments firmly within the integrated repertoire of treatment options in Parkinson's disease. PMID:26274930

  1. Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population.

    PubMed

    Zhao, Zhiyuan; Zou, Jing; Zhao, Lingling; Cheng, Yan; Cai, Hanqing; Li, Mo; Liu, Edwin; Yu, Liping; Liu, Yu

    2016-01-01

    The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA) amongst patients with type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v). The study also included 145 patients with type 2 diabetes (T2D), 97 patients with non-autoimmune thyroid disease (NAITD), and 102 healthy controls. Serum islet autoantibodies, thyroid autoantibodies and TGA were measured by radioimmunoassay. TGA positivity was found in 22% of patients with either type 1 diabetes or AITD, much higher than that in patients with T2D (3.4%; p< 0.0001) or NAITD (3.1%; P < 0.0001) or healthy controls (1%; p<0.0001). The patients with APS3v having both T1D and AITD were 36% positive for TGA, significantly higher than patients with T1D alone (p = 0.040) or with AITD alone (p = 0.017). T1D and AITD were found to have a 20% and 30% frequency of overlap respectively at diagnosis. In conclusion, TGA positivity was high in the Chinese population having existing T1D and/or AITD, and even higher when both diseases were present. Routine TGA screening in patients with T1D or AITD will be important to early identify celiac disease autoimmunity for better clinical care of patients. PMID:27427767

  2. Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population

    PubMed Central

    Zhao, Zhiyuan; Zou, Jing; Zhao, Lingling; Cheng, Yan; Cai, Hanqing; Li, Mo; Liu, Edwin; Yu, Liping; Liu, Yu

    2016-01-01

    The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA) amongst patients with type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v). The study also included 145 patients with type 2 diabetes (T2D), 97 patients with non-autoimmune thyroid disease (NAITD), and 102 healthy controls. Serum islet autoantibodies, thyroid autoantibodies and TGA were measured by radioimmunoassay. TGA positivity was found in 22% of patients with either type 1 diabetes or AITD, much higher than that in patients with T2D (3.4%; p< 0.0001) or NAITD (3.1%; P < 0.0001) or healthy controls (1%; p<0.0001). The patients with APS3v having both T1D and AITD were 36% positive for TGA, significantly higher than patients with T1D alone (p = 0.040) or with AITD alone (p = 0.017). T1D and AITD were found to have a 20% and 30% frequency of overlap respectively at diagnosis. In conclusion, TGA positivity was high in the Chinese population having existing T1D and/or AITD, and even higher when both diseases were present. Routine TGA screening in patients with T1D or AITD will be important to early identify celiac disease autoimmunity for better clinical care of patients. PMID:27427767

  3. Fabry-Perot observations of comet Austin

    NASA Technical Reports Server (NTRS)

    Schultz, David; Scherb, F.; Roesler, F. L.; Li, G.; Harlander, J.; Roberts, T. P. P.; Vandenberk, D.; Nossal, S.; Coakley, M.; Oliversen, Ronald J.

    1990-01-01

    Preliminary results of a program to observe Comet Austin (1990c1) from 16 April to 4 May and from 11 May to 27 May 1990 using the West Auxiliary of the McMath Solar Telescope on Kitt Peak, Arizona were presetned. The observations were made with a 15 cm duel-etalon Fabry-Perot scanning and imaging spectrometer with two modes of operation: a high resolution mode with a velocity resolution of 1.2 km/s and a medium resolution mode with a velocity resolution 10 km/s. Scanning data was obtained with an RCA C31034A photomultiplier tube and imaging data was obtained with a Photometrics LN2 cooled CCD camera with a 516 by 516 Ford chip. The results include: (1) information on the coma outflow velocity from high resolution spectral profiles of (OI)6300 and NH2 emissions, (2) gaseous water production rates from medium resolution observation of (OI)6300, (3) spectra of H2O(+) emissions in order to study the ionized component of the coma, (4) spatial distribution of H2O(+) emission features from sequences of velocity resolved images (data cubes), and (5) spatial distribution of (OI)6300 and NH2 emissions from medium resolution images. The field of view on the sky was 10.5 arcminutes in diameter. In the imaging mode the CCD was binned 4 by 4 resulting in 7.6 sec power pixel and a subarray readout for a field of view of 10.5 min.

  4. Surface Plasmons in Fabry-Perot Microcavities

    NASA Astrophysics Data System (ADS)

    Gregory, Stephen

    2000-05-01

    We have developed a technique for creating a tunable Fabry-Perot microcavity by flattening a tunneling microscope tip to create a mirror which is then opposed to a semitransparent metal-film mirror. The latter is deposited on a glass prism through which light can be directed into the cavity and which transmits light emitted by the cavity. With this arrangement we can reproducibly investigate behavior as the mirror separation is tuned down to contact. The modes usually associated with optical cavities are free-space solutions of Maxwell's equations and are populated by photons. However, in a microscopic cavity we must also consider near-field phenomena such as surface-plasmons at the surfaces of the mirrors. These can be excited by a laser beam incident on the prism at an appropriate angle. Surface-plasmon solutions include coupled modes involving both mirrors, which are radially confined in the microcavity. We are studying interconversion of photons and surface-plasmons and the lifetimes of both types of excitations, in particular as these are modified by cavity quantum electrodynamic effects.

  5. Myocardial performance and perfusion during exercise in patients with coronary artery disease caused by Kawasaki disease

    SciTech Connect

    Paridon, S.M.; Ross, R.D.; Kuhns, L.R.; Pinsky, W.W. )

    1990-01-01

    For a study of the natural history of coronary artery lesions after Kawasaki disease and their effect on myocardial blood flow reserve with exercise, five such patients underwent exercise testing on a bicycle. Oxygen consumption, carbon dioxide production, minute ventilation, and electrocardiograms were monitored continuously. Thallium-201 scintigraphy was performed for all patients. One patient stopped exercise before exhaustion of cardiovascular reserve but had no evidence of myocardial perfusion abnormalities. Four patients terminated exercise because of exhaustion of cardiovascular reserve; one had normal cardiovascular reserve and thallium scintiscans, but the remaining patients had diminished cardiovascular reserve. Thallium scintigrams showed myocardial ischemia in two and infarction in one. No patient had exercise-induced electrocardiographic changes. These results indicate that patients with residual coronary artery lesions after Kawasaki disease frequently have reduced cardiovascular reserve during exercise. The addition of thallium scintigraphy and metabolic measurements to exercise testing improved the detection of exercise-induced abnormalities of myocardial perfusion.

  6. Vitamin D deficiency in patients with inflammatory bowel disease.

    PubMed

    Fletcher, Jane

    2016-08-11

    There are over 300 000 people in the UK affected by inflammatory bowel disease (IBD). Though vitamin D deficiency is common in patients with IBD, National Institute for Health and Care Excellence (NICE) guidance regarding vitamin D supplementation does not address the needs of patients with chronic inflammatory diseases. However, there is growing evidence that vitamin D plays an important role in the management of IBD. Nurses caring for patients with IBD should have an understanding of the causes and consequences of vitamin D deficiency in this patient group. This article looks at the role vitamin D plays in the body and the challenges of treating deficiency. Consideration is given to diet, sun exposure and supplementation as possible treatments and acknowledges the limitations of treatments for patients with IBD. With a lack of clear national guidance, it is hoped that raising awareness of these issues will inform nursing practice and ensure a holistic approach to care. PMID:27523756

  7. Multidisciplinary Care of the Patient with Chronic Obstructive Pulmonary Disease

    PubMed Central

    Kuzma, Anne Marie; Meli, Yvonne; Meldrum, Catherine; Jellen, Patricia; Butler-Lebair, Marianne; Koczen-Doyle, Debra; Rising, Peter; Stavrolakes, Kim; Brogan, Frances

    2008-01-01

    The National Emphysema Treatment Trial used a multidisciplinary team approach to implement the maximum medical care protocol, including adjustment of medications and outpatient pulmonary rehabilitation for all patients and nutritional and psychological counseling as needed. This article discusses the benefits of such an approach in the care of the patient with chronic obstructive pulmonary disease. Team member roles complement each other and contribute to the goal of providing the highest-quality medical care. The primary focus of the team is to reinforce the medical plan and to provide patient education and support. This article reviews the elements of the initial patient assessment and the functional and nutritional assessment. Patient education focuses on medication use, recognition and management of chronic obstructive pulmonary disease exacerbation symptoms, smoking cessation, advance directives, and travel. PMID:18453373

  8. [Integrated care for patients with advanced chronic obstructive pulmonary disease].

    PubMed

    Jassem, Ewa; Górecka, Dorota; Krakowiak, Piotr; Kozielski, Jerzy; Słomiński, J Marek; Krajnik, Małgorzata; Fal, Andrzej M

    2010-01-01

    Chronic obstructive pulmonary disease (COPD) is the third cause of mortality and disability (assessed by DALY) among patients above 60 year old. Severe and very severe COPD (FEV(1) = equal or less than 50% and 30% of expected value, respectively) is estimated at 20% of all COPD patients. Advanced COPD usually leads to physical and mental deterioration, the patients often manage with the problems caused by the disease and other comorbidities poorly. This leads to increased risk of COPD exacerbations and further deterioration of the patient's status, increased costs of medical care and eventually increased risk of death. Current organization of medical care for those patients does not provide adequate health and social support for them. However, it seems that introducing an integrated approach proposed by World Health Organization, could improve the situation of advanced COPD patients. In Poland, this kind of care has been provided in advanced cancer patients throughout stationary palliative care units and hospices during the last several years. This experience should be helpful in integrating actions of general practitioners and specialized nurses, as well as providing access for the specialists' consultations according to the individual needs of the patients. It should also allow for broad cooperation with auxiliary staff, such as social workers, medical assistants and volunteers, as well as psychologists and clergymen (especially in the terminal phase of the disease).

  9. Differential diagnosis of 201 possible Creutzfeldt-Jakob disease patients.

    PubMed

    Van Everbroeck, Bart; Dobbeleir, Itte; De Waele, Michele; De Deyn, Peter; Martin, Jean-Jacques; Cras, Patrick

    2004-03-01

    Our objective was to describe the clinical signs of 'possible' Creutzfeldt-Jakob disease (CJD) and to investigate whether current diagnostic criteria can accurately differentiate between different forms of dementia. We studied clinical data of 'definite' CJD, Alzheimer's disease (AD), dementia with Lewy bodies (DLB), and vascular dementia (VD) patients. Two subgroups were used: the first consisted of patients with clinical signs compatible with 'possible' CJD but in whom another final diagnosis was made and a second group with a typical evolution of the respective dementia. More focal neurological deficits were observed in AD, DLB or VD patients initially classified as 'possible' CJD than in typical patients. A typical electroencephalogram showing periodic sharp wave complexes was observed in 26 (50%) CJD and 6% of other dementia patients. The 14-3-3 protein was detected in all CJD and 8% of other dementia patients. In patients with rapidly progressive dementia and focal neurological signs, CJD should be considered. When faced with the triad: dementia, myoclonus, and initial memory problems AD should be considered if the disease duration is longer than 1 year. The diagnosis of DLB is suggested, if Parkinsonism or fluctuations are present, whereas a focal onset and compatible brain imaging can indicate VD. Findings suggestive of CJD on EEG, brain imaging, and CSF do not exclude other dementias but make them very unlikely. These observations cannot only assist in the differential diagnosis of CJD but also with the identification of AD, DLB or VD patients with atypical clinical history.

  10. [Why screen for lung cancer in patients with arterial disease?].

    PubMed

    Lederlin, M; Trédaniel, J; Priollet, P

    2015-12-01

    Lung cancer remains the leading cause of cancer death in France. Such a prognosis is explained by late diagnosis at a metastatic stage for half of the patients. Tobacco is the main risk factor for lung cancer, as it is for peripheral arterial disease. A review of literature shows that between 2.3% and 19% of patients with arterial disease also have lung cancer. When lung cancer is detected after treatment of arterial disease, it is at an advanced stage. But it can be diagnosed at an early stage when it is searched simultaneously with arterial disease treatment. There is no recommendation for lung cancer screening specifically for patients with arterial disease. However individual screening based on an annual low-dose chest scan is proposed for smokers meeting the criteria defined by the study of the National Lung Screening Trial (NLST). Such screening has two disadvantages : the high number of false positives and the irradiation induced by the accumulation of examinations. The ISET method would alternatively help to identify circulating tumor cells on a simple blood test for subjects not yet at solid tumor stage, provided this method be subject to multicentric validation. Thus one could consider that the management of a patient with arterial disease meeting NLST criteria should be accompanied with screening for lung cancer by searching for tumor cells associated with low-dose scanner.

  11. [Individual in-patient and out-patient prevention in occupational skin diseases].

    PubMed

    Skudlik, C; Weisshaar, E

    2015-03-01

    Concerning all occupation-related diseases, one-third of those reported in Germany are skin diseases. Among them, contact dermatitis is the most frequent skin disease. It usually presents as hand eczema leading to a loss of function and ability to work as well as reduced quality of life. Due to the high demand a number of prevention programmes were introduced. They comprise measures of secondary (out-patient) and tertiary (in-patient) prevention. Out-patient prevention measures include dermatologist's report and occupation-tailored teaching and prevention programmes. If the occupational skin disease is severe, therapy is not successful or the diagnosis is not clear measures of tertiary prevention can be offered as an in-patient treatment and prevention programme. All this aims to prevent the job loss of the patient. Preventive measures in occupational dermatology have proven to be very effective in recent years, especially measures of individual in-patient and out-patient prevention as components of a complex hierarchical prevention concept. This integrated concept of an in-patient/out-patient disease management reveals remarkable pertinent effectivity for patients with severe occupational dermatoses in risk professions.

  12. Chronic Lyme disease: misconceptions and challenges for patient management

    PubMed Central

    Halperin, John J

    2015-01-01

    Lyme disease, infection with the tick-borne spirochete Borrelia burgdorferi, causes both specific and nonspecific symptoms. In untreated chronic infection, specific manifestations such as a relapsing large-joint oligoarthritis can persist for years, yet subside with appropriate antimicrobial therapy. Nervous system involvement occurs in 10%–15% of untreated patients and typically involves lymphocytic meningitis, cranial neuritis, and/or mononeuritis multiplex; in some rare cases, patients have parenchymal inflammation in the brain or spinal cord. Nervous system infection is similarly highly responsive to antimicrobial therapy, including oral doxycycline. Nonspecific symptoms such as fatigue, perceived cognitive slowing, headache, and others occur in patients with Lyme disease and are indistinguishable from comparable symptoms occurring in innumerable other inflammatory states. There is no evidence that these nonspecific symptoms reflect nervous system infection or damage, or that they are in any way specific to or diagnostic of this or other tick-borne infections. When these symptoms occur in patients with Lyme disease, they typically also subside after antimicrobial treatment, although this may take time. Chronic fatigue states have been reported to occur following any number of infections, including Lyme disease. The mechanism underlying this association is unclear, although there is no evidence in any of these infections that these chronic posttreatment symptoms are attributable to ongoing infection with B. burgdorferi or any other identified organism. Available appropriately controlled studies indicate that additional or prolonged courses of antimicrobial therapy do not benefit patients with a chronic fatigue-like state after appropriately treated Lyme disease. PMID:26028977

  13. Chronic Lyme disease: misconceptions and challenges for patient management.

    PubMed

    Halperin, John J

    2015-01-01

    Lyme disease, infection with the tick-borne spirochete Borrelia burgdorferi, causes both specific and nonspecific symptoms. In untreated chronic infection, specific manifestations such as a relapsing large-joint oligoarthritis can persist for years, yet subside with appropriate antimicrobial therapy. Nervous system involvement occurs in 10%-15% of untreated patients and typically involves lymphocytic meningitis, cranial neuritis, and/or mononeuritis multiplex; in some rare cases, patients have parenchymal inflammation in the brain or spinal cord. Nervous system infection is similarly highly responsive to antimicrobial therapy, including oral doxycycline. Nonspecific symptoms such as fatigue, perceived cognitive slowing, headache, and others occur in patients with Lyme disease and are indistinguishable from comparable symptoms occurring in innumerable other inflammatory states. There is no evidence that these nonspecific symptoms reflect nervous system infection or damage, or that they are in any way specific to or diagnostic of this or other tick-borne infections. When these symptoms occur in patients with Lyme disease, they typically also subside after antimicrobial treatment, although this may take time. Chronic fatigue states have been reported to occur following any number of infections, including Lyme disease. The mechanism underlying this association is unclear, although there is no evidence in any of these infections that these chronic posttreatment symptoms are attributable to ongoing infection with B. burgdorferi or any other identified organism. Available appropriately controlled studies indicate that additional or prolonged courses of antimicrobial therapy do not benefit patients with a chronic fatigue-like state after appropriately treated Lyme disease.

  14. Chronic Lyme disease: misconceptions and challenges for patient management.

    PubMed

    Halperin, John J

    2015-01-01

    Lyme disease, infection with the tick-borne spirochete Borrelia burgdorferi, causes both specific and nonspecific symptoms. In untreated chronic infection, specific manifestations such as a relapsing large-joint oligoarthritis can persist for years, yet subside with appropriate antimicrobial therapy. Nervous system involvement occurs in 10%-15% of untreated patients and typically involves lymphocytic meningitis, cranial neuritis, and/or mononeuritis multiplex; in some rare cases, patients have parenchymal inflammation in the brain or spinal cord. Nervous system infection is similarly highly responsive to antimicrobial therapy, including oral doxycycline. Nonspecific symptoms such as fatigue, perceived cognitive slowing, headache, and others occur in patients with Lyme disease and are indistinguishable from comparable symptoms occurring in innumerable other inflammatory states. There is no evidence that these nonspecific symptoms reflect nervous system infection or damage, or that they are in any way specific to or diagnostic of this or other tick-borne infections. When these symptoms occur in patients with Lyme disease, they typically also subside after antimicrobial treatment, although this may take time. Chronic fatigue states have been reported to occur following any number of infections, including Lyme disease. The mechanism underlying this association is unclear, although there is no evidence in any of these infections that these chronic posttreatment symptoms are attributable to ongoing infection with B. burgdorferi or any other identified organism. Available appropriately controlled studies indicate that additional or prolonged courses of antimicrobial therapy do not benefit patients with a chronic fatigue-like state after appropriately treated Lyme disease. PMID:26028977

  15. Alterations of pulmonary function in patients with inflammatory bowel diseases

    PubMed Central

    Ji, Xiao-Qing; Ji, Yan-Bo; Wang, Shan-Xin; Zhang, Cai-Qing; Lu, De-Gan

    2016-01-01

    AIM: The aim of this study was to investigate the alterations of pulmonary function tests (PFTs) and their relationship with disease activity in inflammatory bowel diseases (IBDs). METHODS: Sixty-four IBD patients (31 Crohn's disease [CD] and 33 ulcerative colitis [UC]) and thirty healthy individuals (controls) were studied with regard to the following parameters of PFTs: Forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), their ratio, mid-forced expiratory flow of 25–75% (FEF 25–75), residual volume, total lung capacity, and diffusing capacity of the lung for carbon monoxide (DLCO). The disease activity was calculated using the Crohn's Disease Activity Index for CD and Mayo Clinic Score for UC. Correlation analysis was performed between disease activity and sputum cytology and PFTs. RESULTS: Nineteen of the 31 CD patients (61.29%) and 17 of the 33 UC patients (51.52%) but none of the controls showed at least one abnormal PFTs (P < 0.05). Compared with controls, both CD and UC patients exhibited a significant reduction in FEV1 (P < 0.05), FVC (P < 0.05), FEF 25–75 (P < 0.05), and DLCO (P < 0.05). The majority with decreased measurements of PFTs were in the active phase of diseases (P < 0.05). IBD activity scores correlated negatively with some parameters of PFTs and positively with lymphocytosis and eosinophilia of sputum (P < 0.05). CONCLUSIONS: Pulmonary function disorders are significantly common in IBD patients. The impairment in active disease is significantly greater than in remission. PMID:27803750

  16. Altered Esophageal Mucosal Structure in Patients with Celiac Disease

    PubMed Central

    Pinto-Sánchez, María Inés; Nachman, Fabio D.; Fuxman, Claudia; Iantorno, Guido; Hwang, Hui Jer; Ditaranto, Andrés; Costa, Florencia; Longarini, Gabriela; Wang, Xuan Yu; Huang, Xianxi; Vázquez, Horacio; Moreno, María L.; Niveloni, Sonia; Bercik, Premysl; Smecuol, Edgardo; Mazure, Roberto; Bilder, Claudio; Mauriño, Eduardo C.; Verdu, Elena F.; Bai, Julio C.

    2016-01-01

    Background/Aim. Reflux symptoms (RS) are common in patients with celiac disease (CD), a chronic enteropathy that affects primarily the small intestine. We evaluated mucosal integrity and motility of the lower esophagus as mechanisms contributing to RS generation in patients with CD. Methods. We enrolled newly diagnosed CD patients with and without RS, nonceliac patients with classical reflux disease (GERD), and controls (without RS). Endoscopic biopsies from the distal esophagus were assessed for dilated intercellular space (DIS) by light microscopy and electron microscopy. Tight junction (TJ) mRNA proteins expression for zonula occludens-1 (ZO-1) and claudin-2 and claudin-3 (CLDN-2; CLDN-3) was determined using qRT-PCR. Results. DIS scores were higher in patients with active CD than in controls, but similar to GERD patients. The altered DIS was found even in CD patients without RS and normalized after one year of a gluten-free diet. CD patients with and without RS had lower expression of ZO-1 than controls. The expression of CLDN-2 and CLDN-3 was similar in CD and GERD patients. Conclusions. Our study shows that patients with active CD have altered esophageal mucosal integrity, independently of the presence of RS. The altered expression of ZO-1 may underlie loss of TJ integrity in the esophageal mucosa and may contribute to RS generation. PMID:27446827

  17. Altered Esophageal Mucosal Structure in Patients with Celiac Disease.

    PubMed

    Pinto-Sánchez, María Inés; Nachman, Fabio D; Fuxman, Claudia; Iantorno, Guido; Hwang, Hui Jer; Ditaranto, Andrés; Costa, Florencia; Longarini, Gabriela; Wang, Xuan Yu; Huang, Xianxi; Vázquez, Horacio; Moreno, María L; Niveloni, Sonia; Bercik, Premysl; Smecuol, Edgardo; Mazure, Roberto; Bilder, Claudio; Mauriño, Eduardo C; Verdu, Elena F; Bai, Julio C

    2016-01-01

    Background/Aim. Reflux symptoms (RS) are common in patients with celiac disease (CD), a chronic enteropathy that affects primarily the small intestine. We evaluated mucosal integrity and motility of the lower esophagus as mechanisms contributing to RS generation in patients with CD. Methods. We enrolled newly diagnosed CD patients with and without RS, nonceliac patients with classical reflux disease (GERD), and controls (without RS). Endoscopic biopsies from the distal esophagus were assessed for dilated intercellular space (DIS) by light microscopy and electron microscopy. Tight junction (TJ) mRNA proteins expression for zonula occludens-1 (ZO-1) and claudin-2 and claudin-3 (CLDN-2; CLDN-3) was determined using qRT-PCR. Results. DIS scores were higher in patients with active CD than in controls, but similar to GERD patients. The altered DIS was found even in CD patients without RS and normalized after one year of a gluten-free diet. CD patients with and without RS had lower expression of ZO-1 than controls. The expression of CLDN-2 and CLDN-3 was similar in CD and GERD patients. Conclusions. Our study shows that patients with active CD have altered esophageal mucosal integrity, independently of the presence of RS. The altered expression of ZO-1 may underlie loss of TJ integrity in the esophageal mucosa and may contribute to RS generation. PMID:27446827

  18. [Perioperative myocardial ischemia in patients with peripheral arterial occlusive diseases].

    PubMed

    Rapp, H J; Buselmeier, P; Gasteiger, P; Hoberg, E; Striebel, J P

    1990-04-01

    Patients with peripheral vascular disease (PVD) often have coronary artery disease (CAD) which means an increased risk during anesthesia. The prevalence of CAD is nearly 50% among such patients. Owing to claudication, diagnostic stress tests can rarely be performed in PVD patients. In order to evaluate the frequency of transient perioperative myocardial ischemia, Holter monitoring was performed in 30 consecutive PVD patients with ASA II-III and AVK scale (Fontaine) II-IV who were undergoing femoropopliteal bypass surgery. Patients who had left bundle branch block and left ventricular hypertrophy or were taking digitalis medication were excluded from Holter monitoring. The ST-segment analysis of the frequency modulated recordings (n = 19) revealed episodes of myocardial ischemia in 26% of the patients. Most (75%) of the episodes occurred preoperatively, and 25%, during or after the anesthesia or during preparation for it. Risk factors for CAD were more often found in patients with ST segment alterations than in patients without ST segment deviations, even though the preoperative antianginal medication administered was comparable in the two subgroups. It is concluded that in a considerable subset of PVD patients silent myocardial ischemia occurs, which can be related to the different perioperative intervals by means of ST segment analyses of Holter recordings. The ST segment may allow a better insight into the cardiac state of PVD patients. Further studies are necessary in larger populations to test our suspicion.

  19. Patient Experiences of Depression and Anxiety with Chronic Disease

    PubMed Central

    DeJean, D; Giacomini, M; Vanstone, M; Brundisini, F

    2013-01-01

    Background Depression and anxiety are highly prevalent in patients with chronic disease, but remain undertreated despite significant negative consequences on patient health. A number of clinical groups have developed recommendations for depression screening practices in the chronic disease population. Objectives The objective of this analysis was to review empirical qualitative research on the experiences of patients with chronic disease (e.g., COPD, diabetes, heart disease, stroke) and comorbid depression or anxiety, and to highlight the implications of the screening and management of anxiety and/or depression on chronic disease outcomes. Review Methods We performed literature searches for studies published from January 2002 to May 2012. We applied a qualitative mega-filter to nine condition-specific search filters. Titles and abstracts were reviewed by two reviewers and, for the studies that met the eligibility criteria, full-text articles were obtained. Qualitative meta-synthesis was used to integrate findings across relevant published primary research studies. Qualitative meta-synthesis produced a synthesis of evidence that both retained the original meaning of the authors and offered a new, integrative interpretation of the phenomenon through a process of comparing and contrasting findings across studies. Results The findings of 20 primary qualitative studies were synthesized. Patients tended to experience their chronic conditions and anxiety or depression as either independent or inter-related (i.e., the chronic disease lead to depression/anxiety, the depression/anxiety lead to the chronic disease, or the two conditions exacerbated each other). Potential barriers to screening for depression or anxiety were also identified. Limitations A wider array of issues might have been captured if the analysis had focused on broader psychological responses to the chronic disease experience. However, given the objective to highlight implications for screening for anxiety

  20. Intestinal permeability in patients with coeliac disease and dermatitis herpetiformis.

    PubMed Central

    Bjarnason, I; Marsh, M N; Price, A; Levi, A J; Peters, T J

    1985-01-01

    Intestinal permeability was investigated in patients with coeliac disease and dermatitis herpetiformis by a 51Chromium-labelled ethylenediaminetetraacetate (51Cr-EDTA) absorption test and the results correlated with histomorphometric analysis and intraepithelial lymphocyte counts of jejunal biopsies. The mean (+/- SD) 24 hour urine excretion of 51Cr-EDTA in 34 healthy volunteers was 1.9 +/- 0.5% of the orally administered test dose. Patients with untreated coeliac disease (19) or untreated dermatitis herpetiformis (five) excreted significantly more 51Cr-EDTA than controls (5.9 +/- 2.7% and 4.6 +/- 2.1%, respectively, p less than 0.001) and all were outside the normal range of 1.0-2.6%. Patients with coeliac disease (42) treated for 6 months-23 years (mean 5 years) and patients with dermatitis herpetiformis (11) treated for 6 months-8 years (mean 3 years) excreted significantly more 51Cr-EDTA than controls, 4.2 +/- 2.4% p less than 0.0001 and 3.0 +/- 0.9% p less than 0.003 respectively. Eleven of 14 (79%) treated patients with coeliac disease with an entirely normal jejunal mucosae demonstrated abnormal intestinal permeability. Intestinal permeability did not correlate significantly with either the mucosal height/crypt depth ratio or intraepithelial lymphocyte counts in jejunal biopsies from patients with untreated or treated coeliac disease. The demonstration of a persistent increase in intestinal permeability in patients with both coeliac disease and dermatitis herpetiformis may suggest a common pathogenetic mechanism in both disorders. It is postulated that altered permeability may facilitate the entry of gluten or a fraction thereof into the lamina propria where it causes a cascade of immunological events. PMID:3934051

  1. The Renal Histopathology Spectrum of Elderly Patients with Kidney Diseases

    PubMed Central

    Zhu, Ping; Zhou, Fu-de; Zhao, Ming-hui

    2014-01-01

    Abstract The elderly population has significantly increased in China. However, data regarding renal histopathology in this population is lacking. The present study retrospectively analyzed renal disease spectrum of 430 elderly patients who had received renal biopsy at Peking University First Hospital between January 2003 and December 2012. Among 6049 patients receiving renal biopsies during the same period, 430 (7.10%) were elderly (≥65 years). The ratio of male (263 patients) to female (167 patients) was 1.57:1, with an age of 70.29 ± 3.99 (range 65–82) years at the time of biopsy. The most common indication for renal biopsy was nephrotic syndrome (59.53%), followed by acute kidney injury (AKI, 19.53%) and chronic glomerulonephritis (CGN, 16.05%). The most common renal histopathology in primary glomerular disease was idiopathic membranous nephropathy (iMN, 61.02%), followed by IgA nephropathy (18.22%), minimal change disease (MCD, 9.32%) and focal segmental glomerulosclerosis (6.78%). ANCA-associated vasculitis (AAV, 43.95%) was the leading secondary glomerular disease, followed by HBV-related glomerulonephritis (HBV-GN, 24.2%), and amyloidosis (14.01%). In patients with nephrotic syndrome, iMN (50%) was the leading cause, followed by HBV-GN (16.02%), MCD (7.81%), and amyloidosis (7.81%). In patients with iMN, 89.5% presented as nephrotic syndrome, 8.39% as CGN. In patients with AKI, the leading cause was AAV (48.12%), followed by acute interstitial nephritis (20.48%) and acute tubular necrosis (8.43%). In conclusion, in elderly Chinese patients, the most common renal histopathology pattern was iMN in patients with nephrotic syndrome, and AAV in patients with AKI. PMID:25526441

  2. Nononcologic Disease in Patients with Cancer

    PubMed Central

    Lowitz, Barry B.; Benjamin, Robert S.

    1977-01-01

    Nononcologic medical problems are common in patients with cancer. Failure to evaluate and treat these problems leads to considerable morbidity and mortality in people who often have potential for both comfortable and productive lives. While a physician is sometimes powerless to prevent the progression of underlying cancer, he must not allow a diagnostic category to color his approach. By seeing only an end point which is inevitable for all people, one could be inclined not to treat what is treatable. With clinical judgment, information and the eternal question of diagnosticians, “What else could this be?”, a physician can focus not on the inevitability of death but on the quality of life. PMID:878475

  3. Anesthetic Management of a Pediatric Patient With Wilsons Disease

    PubMed Central

    Baykal, Mehmet; Karapolat, Sami

    2010-01-01

    Wilsons disease, characterized by cirrhosis, extrapyramidal symptoms and Kayser-Fleischer corneal rings, is a rare hereditary disease of human copper metabolism. Clinical findings in Wilsons disease are complex and neurological symptoms such as tremor, dysarthria, rigid dystonia, seizures, psychiatric disorders, acute liver failure, chronic hepatitis or cirrhosis may develop. A 4-year-old male patient was operated for traumatic depressed skull fracture and intracerebral hematoma. He was diagnosed with Wilsons disease at the age of 2.5 years and treated with zinc sulphate and D-penicillamine. General anesthesia was induced with propofol, fentanyl, atracurium, and maintained with isoflurane, and oxygen. No complications were encountered during the operation or in the postoperative period. We concluded that general anesthesia can successfully be given to Wilsons disease patients using an anesthetic agent, the metabolism of which is least affected by the liver disease, one that induces least hepatic toxicity. By close follow-up of patients clinically and biochemically, it is possible to reduce the complication rates to a minimum. Keywords Wilson's Disease; Craniocerebral trauma; Thoracic injuries; General anesthesia; Surgery PMID:21811529

  4. Hypertrophic osteoarthropathy in patient with Crohn's disease: a case report.

    PubMed

    Rhee, Sung-Min; Park, Ki Jeong; Ha, Yong-Chan

    2014-05-01

    Numerous causes of hypertrophic osteoarthropathy (HOA) have been reported. Commonly, secondary osteoarthropathy accompanies pulmonary diseases such as carcinoma of the lung, pleural tumors, lung abscesses, and bronchiectasis. However, HOA in inflammatory bowel disease is a rare complication. There are only a few reports of secondary HOA with Crohn's disease. Our purpose was to report another case of HOA in Crohn's disease. We describe a case of a 27-year-old man with underlying Crohn's disease presenting with 2 years of pain in multiple joints. Radiographic findings suggested HOA in extremities. We performed a conservative treatment including medication and rehabilitations. The patient's symptoms were much improved at the latest follow-up. Although numerous studies on HOA have been published, the pathogenesis of HOA is still unclear. Various treatment modalities were recommended but further studies to uncover the pathogenesis of HOA with Crohn's disease and to establish a treatment modality are needed. PMID:25025001

  5. Nutritional Risk Screening in patients with chronic kidney disease.

    PubMed

    Tan, Rongshao; Long, Jianting; Fang, Shi; Mai, Haiyan; Lu, Wei; Liu, Yan; Wei, Jianrui; Yan, Feng

    2016-01-01

    Knowledge concerning nutritional status of patients with chronic kidney disease (CKD) is limited. Nutritional Risk Screening-2002 (NRS-2002) has been used to evaluate the nutritional aspects of patients according to the recommendation of European Society for Clinical Nutrition and Metabolism. Here we aim to assess the prevalence and characteristics of nutritional risk in CKD patients by using NRS-2002. NRS-2002 scores of 292 CDK patients were recorded in first 24 hours subsequent to their admission to hospital. All patients have never been on dialysis. BMI, weight and various biochemical parameters were also characterized for these patients. Possible correlations between these parameters and NRS-2002 score were investigated. The overall prevalence of nutritional risk was 44.9% (53.6% in CKD stage 4-5 patients and 38.3% in stage 1-3 patients). Statistically significant differences were found in serum Albumin, Haemoglobin B, and lymphocyte counts between patients with or without increased nutritional risk. Under the situation that attending physicians were completely unaware of NRS-2002 scores, only 35.1% of the patients at risk received nutritional support. The nutritional risk status was associated with CKD stages but independent from primary diagnosis type. More attention should be paid to the nutritional status in CKD patients (including early stage patients). We recommended using NRS-2002 for nutritional risk assessment among non-dialysis CKD patients in routine clinical practice. PMID:27222407

  6. Palliative care for patients with end-stage liver disease.

    PubMed

    Larson, Anne M

    2015-05-01

    Liver disease results in over four million physician visits and over 750,000 hospitalizations per year in the USA. Those with chronic liver disease frequently progress to cirrhosis, end-stage liver disease (ESLD), and death. Patients with ESLD experience numerous complications, including muscle cramps, confusion (hepatic encephalopathy), protein calorie malnutrition, muscle wasting, fluid overload (ascites, edema), bleeding (esophagogastric variceal hemorrhage), infection (spontaneous bacterial peritonitis), fatigue, anxiety, and depression. Despite significant improvements in palliation of these complications, patients still suffer reduced quality of life and must confront the fact that their disease will often inexorably progress to death. Liver transplantation is a valid option in this setting, increasing the duration of survival and palliating many of the symptoms. However, many patients die waiting for an organ or are not candidates for transplantation due to comorbid illness. Others receive a transplant but succumb to complications of the transplant itself. Patients and families must struggle with simultaneously hoping for a cure while facing a life-threatening illness. Ideally, the combination of palliative care with life-sustaining therapy can maximize the patients' quality and quantity of life. If it becomes clear that life-sustaining therapy is no longer an option, these patients are then already in a system to help them with end-of-life care.

  7. Motor Sequence Learning Performance in Parkinson's Disease Patients Depends on the Stage of Disease

    ERIC Educational Resources Information Center

    Stephan, Marianne A.; Meier, Beat; Zaugg, Sabine Weber; Kaelin-Lang, Alain

    2011-01-01

    It is still unclear, whether patients with Parkinson's disease (PD) are impaired in the incidental learning of different motor sequences in short succession, although such a deficit might greatly impact their daily life. The aim of this study was thus to clarify the relation between disease parameters of PD and incidental motor learning of two…

  8. Management of renal stone disease in obese patients.

    PubMed

    Vujovic, Aleksandra; Keoghane, Stephen

    2007-12-01

    Obesity represents an increasing burden to health care resources. Nephrolithiasis is associated with obesity and type 2 diabetes and the consumption of diets rich in protein, fat and carbohydrates; this article addresses some of the pathophysiological mechanisms associated with stone formation in these patients. Management of stone disease can be more difficult in obese patients; even diagnosis can be problematic because imaging techniques are less sensitive in these patients. Treatment with extracorporeal shockwave lithotripsy and surgery in obese patients can be challenging, and outcome data for the different treatments are discussed in this Review.

  9. The Wired Patient: Patterns of Electronic Patient Portal Use Among Patients With Cardiac Disease or Diabetes

    PubMed Central

    Weiner, Jonathan P; Shah, Nirav R; Stewart, Walter F

    2015-01-01

    Background As providers develop an electronic health record–based infrastructure, patients are increasingly using Web portals to access their health information and participate electronically in the health care process. Little is known about how such portals are actually used. Objective In this paper, our goal was to describe the types and patterns of portal users in an integrated delivery system. Methods We analyzed 12 months of data from Web server log files on 2282 patients using a Web-based portal to their electronic health record (EHR). We obtained data for patients with cardiovascular disease and/or diabetes who had a Geisinger Clinic primary care provider and were registered “MyGeisinger” Web portal users. Hierarchical cluster analysis was applied to longitudinal data to profile users based on their frequency, intensity, and consistency of use. User types were characterized by basic demographic data from the EHR. Results We identified eight distinct portal user groups. The two largest groups (41.98%, 948/2258 and 24.84%, 561/2258) logged into the portal infrequently but had markedly different levels of engagement with their medical record. Other distinct groups were characterized by tracking biometric measures (10.54%, 238/2258), sending electronic messages to their provider (9.25%, 209/2258), preparing for an office visit (5.98%, 135/2258), and tracking laboratory results (4.16%, 94/2258). Conclusions There are naturally occurring groups of EHR Web portal users within a population of adult primary care patients with chronic conditions. More than half of the patient cohort exhibited distinct patterns of portal use linked to key features. These patterns of portal access and interaction provide insight into opportunities for electronic patient engagement strategies. PMID:25707036

  10. The Risk of Peripheral Arterial Disease after Parathyroidectomy in Patients with End-Stage Renal Disease

    PubMed Central

    Chen, Hsuan-Ju; Li, Tsai-Chung; Hsu, Chih-Cheng; Kao, Chia-Hung

    2016-01-01

    Purpose The changes of the risk of peripheral arterial disease (PAD) in patients with end-stage renal disease after parathyroidectomy are scant. Methods We used a nationwide health insurance claims database to select all dialysis-dependent patients with end-stage renal disease aged 18 years and older for the study population in 2000 to 2006. Of the patients with end-stage renal disease, we selected 947 patients who had undergone parathyroidectomy as the parathyroidectomy group and frequency matched 3746 patients with end-stage renal disease by sex, age, years since the disease diagnosis, and the year of index date as the non-parathyroidectomy group. We used a multivariate Cox proportional hazards regression analysis with the use of a robust sandwich covariance matrix estimate, accounting for the intra-cluster dependence of hospitals or clinics, to measure the risk of peripheral arterial disease for the parathyroidectomy group compared with the non-parathyroidectomy group after adjusting for sex, age, premium-based income, urbanization, and comorbidity. Results The mean post-op follow-up periods were 5.08 and 4.52 years for the parathyroidectomy and non-parathyroidectomy groups, respectively; the incidence density rate of PAD in the PTX group was 12.26 per 1000 person-years, significantly lower than the data in the non-PTX group (24.09 per 1000 person-years, adjusted HR = 0.66, 95% CI = 0.46–0.94). Conclusion Parathyroidectomy is associated with reduced risk of peripheral arterial disease in patients with end-stage renal disease complicated with severe secondary hyperparathyroidism. PMID:27284924

  11. [Optimizing a system of medical rehabilitation for vibration disease patients].

    PubMed

    Suvorov, V G; Shelekhova, A E

    2014-01-01

    The study was aimed to reveal efficiency of extracorporeal shock-wave therapy in complex treatment of vibration disease patients. Examination covered 92 patients with varying severity of vibration disease, 58 of which received extracorporeal shock-wave therapy with Piezo Wave device produced by Richard Wolf in addition to traditional treatment. The treatment efficiency was evaluated through its influence on intensity and regression of pain syndrome. Comparative analysis showed that extracorporeal shockwave therapy in the treatment complex considerably increases efficiency and leads to earlier and more stable regression of pain in distal parts of hands. Two variants of chronic pain response to extracorporeal shock-wave therapy were revealed. Marked analgetic potential, good tolerance and stability of the results obtained enable to recommend extracorporeal shock-wave therapy in rehabilitation complex for vibration disease patients.

  12. Stepping analysis in patients with spinocerebellar degeneration and Parkinson's disease.

    PubMed

    Sasaki, O; Taguchi, K; Kikukawa, M; Ogiba, T

    1993-07-01

    POLGON (Polarized light goniometer) was used to evaluate ataxia during stepping movements in patients with spinocerebellar degeneration (SCD) and Parkinson's disease. The measurements included mean angular change of shoulders (M.A.C.S.) and its coefficient of variation (C.V.). In patients with SCD, the values of M.A.C.S. were significantly larger at 1.0 step/s than those at other stepping rhythms. This results suggests that the stepping rhythm of 1.0 step/s is useful for the detection of cerebellar ataxia. The values of C.V. correlated with the degree of advancement of SCD. In patients with Parkinson's disease, the values of M.A.C.S. tended to decrease because of the restricted elevation of the knee, while those of C.V. were increased. The results showed that the stepping test using the POLGON was useful for estimation of the characteristic disequilibrium of SCD and Parkinson's disease.

  13. Hyperphosphatemia Management in Patients with Chronic Kidney Disease.

    PubMed

    Shaman, Ahmed M; Kowalski, Stefan R

    2016-07-01

    Hyperphosphatemia in chronic kidney disease (CKD) patients is a potentially life altering condition that can lead to cardiovascular calcification, metabolic bone disease (renal osteodystrophy) and the development of secondary hyperparathyroidism (SHPT). It is also associated with increased prevalence of cardiovascular diseases and mortality rates. To effectively manage hyperphosphatemia in CKD patients it is important to not only consider pharmacological and nonpharmacological treatment options but also to understand the underlying physiologic pathways involved in phosphorus homoeostasis. This review will therefore provide both a background into phosphorus homoeostasis and the management of hyperphosphatemia in CKD patients. In addition, it will cover some of the most important reasons for failure to control hyperphosphatemia with emphasis on the effect of the gastric pH on phosphate binders efficiency. PMID:27330380

  14. Endocrine Abnormalities in Patients with Chronic Kidney Disease.

    PubMed

    Kuczera, Piotr; Adamczak, Marcin; Wiecek, Andrzej

    2015-01-01

    In patients with chronic kidney disease the alterations of the endocrine system may arise from several causes. The kidney is the site of degradation as well as synthesis of many different hormones. Moreover, a number of concomitant pathological conditions such as inflammation, metabolic acidosis and malnutrition may participate in the pathogenesis of endocrine abnormalities in this group of patients. The most pronounced endocrine abnormalities in patients with chronic kidney disease are the deficiencies of: calcitriol, testosterone, insulin-like growth factor and, erythropoietin (EPO). Additionally accumulation of several hormones, such as: prolactin, growth hormone and insulin frequently also occur. The clinical consequences of the abovementioned endocrine abnormalities are among others: anemia, infertility and bone diseases.

  15. The role of the inflammasome in patients with autoinflammatory diseases.

    PubMed

    Hoffman, Hal M; Broderick, Lori

    2016-07-01

    Autoinflammatory diseases are disorders of the innate immune system, characterized by systemic inflammation often driven by inflammasomes, and independent of infection and autoreactive antibodies or antigen-specific T cells. These diseases are increasingly recognized as disorders of immune dysregulation, presenting with a constellation of fevers, rashes, and mucosal symptoms in many cases, which suggests that the allergist/immunologist is the appropriate specialist for these patients. However, many practicing physicians are unaware of these disorders in their pediatric and adult patient populations, leading to substantial delays in diagnosis. Recognizing autoinflammatory disease symptom patterns, performing appropriate diagnostic tests, and instituting early effective therapy are essential to reduce morbidity and mortality in these patients. This review will focus on understanding the molecular basis of inflammasomes, recognizing the distinguishing features of the classic autoinflammatory disorders, and appreciating the treatment modalities available. PMID:27373321

  16. Endocrine Abnormalities in Patients with Chronic Kidney Disease.

    PubMed

    Kuczera, Piotr; Adamczak, Marcin; Wiecek, Andrzej

    2015-01-01

    In patients with chronic kidney disease the alterations of the endocrine system may arise from several causes. The kidney is the site of degradation as well as synthesis of many different hormones. Moreover, a number of concomitant pathological conditions such as inflammation, metabolic acidosis and malnutrition may participate in the pathogenesis of endocrine abnormalities in this group of patients. The most pronounced endocrine abnormalities in patients with chronic kidney disease are the deficiencies of: calcitriol, testosterone, insulin-like growth factor and, erythropoietin (EPO). Additionally accumulation of several hormones, such as: prolactin, growth hormone and insulin frequently also occur. The clinical consequences of the abovementioned endocrine abnormalities are among others: anemia, infertility and bone diseases. PMID:27442377

  17. Wisdom teeth extraction in a patient with moyamoya disease.

    PubMed

    Seto, Mika; Aoyagi, Naoko; Koga, Sayo; Kikuta, Toshihiro

    2013-12-01

    Moyamoya disease is a rare neurovascular disorder that involves constriction of certain arteries in the brain. In patients with moyamoya disease, it is very important to prevent cerebral ischemic attacks and intracerebral bleeding caused by fluctuating blood pressure and increased respiration. A 40-year-old woman with moyamoya disease was scheduled for extraction of her right upper and lower impacted wisdom teeth. Her lower impacted wisdom tooth was situated close to the inferior alveolar nerve. We decided to continue her oral antiplatelet therapy and planned intravenous sedation with analgesic agents administered approximately five minutes prior to extraction of the root of the mandibular wisdom tooth. Oral analgesic medications were regularly administered postoperatively to alleviate pain and anxiety. During the perioperative period, no cerebrovascular event occurred, and the wisdom teeth were successfully extracted as per the planned procedure. It is thought that the perioperative risks of wisdom tooth extraction in patients with moyamoya disease can be minimized with the use of our protocols.

  18. Dyslipidemia in patients with nonalcoholic fatty liver disease.

    PubMed

    Chatrath, Hemant; Vuppalanchi, Raj; Chalasani, Naga

    2012-02-01

    Patients with nonalcoholic fatty liver disease (NAFLD) often have dyslipidemia along with other features of metabolic syndrome such as obesity, diabetes mellitus, and hypertension. The dyslipidemia in NAFLD is characterized by increased serum triglycerides, increased small, dense low-density lipoprotein (LDL nontype A) particles, and low high-density lipoprotein (HDL) cholesterol. The pathogenesis of dyslipidemia in NAFLD is not well understood, but it is likely related to hepatic overproduction of the very low-density lipoprotein particles and dysregulated clearance of lipoproteins from the circulation. There is unequivocal evidence that cardiovascular disease is the most common cause of mortality in patients with NAFLD. Aggressive treatment of dyslipidemia plays a critical role in the overall management of patients with NAFLD. Statins are the first-line agents to treat high cholesterol and their dosage should be adjusted based on achieving therapeutic targets and tolerability. Although all statins appear to be effective in improving cholesterol levels in patients with NAFLD, there is more experience with atorvastatin in patients with NAFLD; furthermore, it is the only statin to date to show a reduced cardiovascular morbidity in patients with NAFLD. The risk for serious liver injury from statins is quite rare and patients with NAFLD are not at increased risk for statin hepatotoxicity. Omega-3 fatty acids are perhaps the first choice to treat hypertriglyceridemia because of their safety, tolerability, and efficacy in improving serum triglycerides, as well as their potential to improve liver disease. PMID:22418885

  19. [Cognitive plasticity in Alzheimer's disease patients receiving cognitive stimulation programs].

    PubMed

    Zamarrón Cassinello, Ma Dolores; Tárraga Mestre, Luis; Fernández-Ballesteros, Rocío

    2008-08-01

    The main purpose of this article is to examine whether cognitive plasticity increases after cognitive training in Alzheimer's disease patients. Twenty six patients participated in this study, all of them diagnosed with mild Alzheimer's disease, 17 of them received a cognitive training program during 6 months, and the other 9 were assigned to the control group. Participants were assigned to experimental or control conditions for clinical reasons. In order to assess cognitive plasticity, all patients were assessed before and after treatment with three subtests from the "Bateria de Evaluación de Potencial de Aprendizaje en Demencias" [Assessment Battery of Learning Potential in Dementia] (BEPAD). After treatment, Alzheimer's disease patients improved their performance in all the tasks assessing cognitive plasticity: viso-spatial memory, audio-verbal memory and verbal fluency. However, the cognitive plasticity scores of the patients in the control group decreased. In conclusion, this study showed that cognitive stimulation programs can improve cognitive functioning in mildly demented patients, and patients who do not receive any cognitive interventions may reduce their cognitive functioning.

  20. [Cognitive plasticity in Alzheimer's disease patients receiving cognitive stimulation programs].

    PubMed

    Zamarrón Cassinello, Ma Dolores; Tárraga Mestre, Luis; Fernández-Ballesteros, Rocío

    2008-08-01

    The main purpose of this article is to examine whether cognitive plasticity increases after cognitive training in Alzheimer's disease patients. Twenty six patients participated in this study, all of them diagnosed with mild Alzheimer's disease, 17 of them received a cognitive training program during 6 months, and the other 9 were assigned to the control group. Participants were assigned to experimental or control conditions for clinical reasons. In order to assess cognitive plasticity, all patients were assessed before and after treatment with three subtests from the "Bateria de Evaluación de Potencial de Aprendizaje en Demencias" [Assessment Battery of Learning Potential in Dementia] (BEPAD). After treatment, Alzheimer's disease patients improved their performance in all the tasks assessing cognitive plasticity: viso-spatial memory, audio-verbal memory and verbal fluency. However, the cognitive plasticity scores of the patients in the control group decreased. In conclusion, this study showed that cognitive stimulation programs can improve cognitive functioning in mildly demented patients, and patients who do not receive any cognitive interventions may reduce their cognitive functioning. PMID:18674439

  1. Depression in African-American patients with kidney disease.

    PubMed Central

    Kimmel, Paul L.; Patel, Somir S.; Peterson, Rolf A.

    2002-01-01

    There are few data on the epidemiology, consequences and treatment of depression in African-American patients with kidney disease in the US, even though such patients disproportionately bear the burden of this illness. This paper reviews data on the diagnosis and pathogenesis of depression and its consequences in patients with and without kidney disease, in addition to work on the epidemiology of depression in the African-American population and in the US End-stage Renal Disease (ESRD) program. African Americans are thought to have similar susceptibility to the development of depression as other populations in the US, but diminished access to care for this group of patients may be associated with differential outcomes. Data are presented from longitudinal studies of psychosocial outcomes in a population comprising primarily African-American patients with ESRD, and is reviewed the treatment of depression in patients with and without kidney disease. There are few studies of the management of depression that focus on minority populations. The authors agree with recommendations that treatment trials should include minority patients, patients with medical comorbidities, and the elderly, and assess function and quality of life as outcomes. The relationships between age, marital status and satisfaction, ethnicity, and perception of quality of life and depressive affect level and diagnosis of depression, and medical outcomes have not been determined in ESRD patients, or in African-American patients with ESRD. There are few studies of drugs for the treatment of depression in ESRD patients, and only one small randomized controlled trial. These have shown that therapy with selective serotonin reuptake inhibitors appears to be a safe treatment option for patients with ESRD. The long-term effectiveness of therapy, and its association with clinically important outcomes such as perception of quality of life, compliance, and survival have not been evaluated in ESRD patients. Also

  2. Necrotising herpetic retinopathy in patients with advance HIV disease.

    PubMed Central

    Miller, R F; Brink, N S; Cartledge, J; Sharvell, Y; Frith, P

    1997-01-01

    OBJECTIVES: To describe the presenting features, clinical and laboratory diagnosis, response to treatment, and outcome of necrotising herpetic retinopathy (NHR) in HIV infected patients. METHODS: Retrospective case records/laboratory data review of five HIV infected patients presenting to the specialist HIV/AIDS unit at UCL Hospitals, London from April 1994 to August 1996 with a clinical diagnosis of NHR. RESULTS: All patients had advanced HIV disease with a median CD4 count of 20.10(6)/1. Three patients had cutaneous varicella zoster virus (VZV) infection within the preceding 8 weeks. All had uniocular loss of visual acuity; one also had headache and another ocular pain. All had typical retinal appearances. VZV DNA was detected in cerebrospinal fluid of four patients (and in vitreous fluid of one of the four) and in vitreous fluid of one other. One patient refused therapy and rapidly became blind. Four patients received intravenous foscarnet with intravenous aciclovir for 6 weeks: three subsequently received oral famciclovir and one oral valaciclovir; two patients also had intravitreal injections of foscarnet. In none of the four did treatment bring about improvement in visual acuity, but in all four visual loss from retinitis was halted. CONCLUSIONS: NHR occurs in HIV infected patients with advanced HIV disease and is strongly associated with evidence of VZV infection. With aggressive use of antiviral drugs the outcome is not uniformly poor. Images PMID:9582461

  3. Prevalence of psychiatric comorbidities in chronic obstructive pulmonary disease patients

    PubMed Central

    Chaudhary, Shyam Chand; Nanda, Satyan; Tripathi, Adarsh; Sawlani, Kamal Kumar; Gupta, Kamlesh Kumar; Himanshu, D; Verma, Ajay Kumar

    2016-01-01

    Introduction: Psychiatric disorders, especially anxiety and depression have been reported to have an increased prevalence in chronic obstructive pulmonary disease (COPD) patients, but there is a paucity of data from India. Aims and Objectives: Aim of our study is to study the frequency of psychiatric comorbidities in COPD patients and their correlation with severity of COPD, as per global initiative for obstructive lung disease guidelines. Materials and Methods: This study was conducted in outpatient department of a tertiary care hospital (King George's Medical University). A total of 74 COPD patients were included in this study and compared with 74 controls. The diagnosis and severity of COPD were assessed by spirometry. Psychiatric comorbidities were assessed using the Mini International Neuropsychiatric Interview questionnaire. Results: The frequency of psychiatric comorbidities was significantly higher (P < 0.05) in COPD patients (28.4%) as compared to controls (2.7%). As regards to severity, the frequency was significantly increased in severe and very severe COPD. The frequency of psychiatric comorbidities in COPD patients increased significantly with the increase in duration of symptoms being present in 67% of patients with duration of symptoms more than 10 years and only 23% of patients with duration of symptoms ≤5 years. Conclusion: The frequency of psychiatric comorbidities is increased in COPD patients as compared to controls. We recommend that all patients with COPD should be screened for psychiatric comorbidity, if any. PMID:27051106

  4. Caffeine intake by patients with autosomal dominant polycystic kidney disease.

    PubMed

    Vendramini, L C; Nishiura, J L; Baxmann, A C; Heilberg, I P

    2012-09-01

    Because caffeine may induce cyst and kidney enlargement in autosomal dominant polycystic kidney disease (ADPKD), we evaluated caffeine intake and renal volume using renal ultrasound in ADPKD patients. Caffeine intake was estimated by the average of 24-h dietary recalls obtained on 3 nonconsecutive days in 102 ADPKD patients (68 females, 34 males; 39 ± 12 years) and compared to that of 102 healthy volunteers (74 females, 28 males; 38 ± 14 years). The awareness of the need for caffeine restriction was assessed. Clinical and laboratory data were obtained from the medical records of the patients. Mean caffeine intake was significantly lower in ADPKD patients versus controls (86 vs 134 mg/day), and 63% of the ADPKD patients had been previously aware of caffeine restriction. Caffeine intake did not correlate with renal volume in ADPKD patients. There were no significant differences between the renal volumes of patients in the highest and lowest tertiles of caffeine consumption. Finally, age-adjusted multiple linear regression revealed that renal volume was associated with hypertension, chronic kidney disease stage 3 and the time since diagnosis, but not with caffeine intake. The present small cross-sectional study indicated a low level of caffeine consumption by ADPKD patients when compared to healthy volunteers, which was most likely due to prior awareness of the need for caffeine restriction. Within the range of caffeine intake observed by ADPKD patients in this study (0-471 mg/day), the renal volume was not directly associated with caffeine intake.

  5. Hepatocellular Carcinoma Management in Nonalcoholic Fatty Liver Disease Patients

    PubMed Central

    Oliveira, Claudia P.; Alvares-da-Silva, Mario R.; Tani, Claudia M.; Diniz, Marcio A.; Stefano, Jose T.; Chagas, Aline L.; Alencar, Regiane S.S.M.; Vezozzo, Denise C.P.; Santos, Gilmar R.; Campos, Priscila B.; Alves, Venancio AF.; Ratziu, Vlad; Carrilho, Flair J.

    2016-01-01

    Background/Aims: Nonalcoholic fatty liver disease (NAFLD) has emerged as an important cause of chronic liver disease, cirrhosis, and hepatocellular carcinoma (HCC). The Barcelona Clinic Liver Cancer (BCLC) system is the preferred staging system to evaluate patients with HCC and links prognosis assessment with treatment recommendation. The aim of this retrospective study was to evaluate whether the BCLC staging system and its treatment algorithm are suitable for patients with HCC arising from NAFLD. Methods: Forty-two patients with HCC related to either to NAFLD or cryptogenic cirrhosis were retrieved retrospectively from 2 centers in Brazil. Patients were classified according to BCLC staging system. If the proposed HCC therapy could not be applied, the case was considered to represent deviations from the recommended BCLC guideline. Causes of treatment deviations were investigated. Results: There were 4 patients without evidence of cirrhosis according to liver biopsy and/or clinical evaluation. One (2%), 21 (50%), 10 (24%), 5 (12%), and 5 patients (12%) were classified initially to the very early (0), early (A), intermediate (B), advanced (C), and terminal (D) BCLC stages, respectively. Thirty-five patients (83%) were treated according to BCLC recommendations. There were 3 cases (of 5) of protocol deviation in BCLC C patients. The 1- and 2-year overall survival rates were 81% and 66%, respectively. Conclusions: The BCLC system is applied in most cases of NAFLD-related HCC cases. Deviation of BCLC is found more frequently in BCLC C stage patients. PMID:25268068

  6. [Hyperhomocysteinemia and cardiovascular risk profile in ischemic heart disease and acid peptic disease comorbidity patients].

    PubMed

    Zharkova, A V; Orlovs'kyĭ, V F

    2014-01-01

    Present article is devoted to the study of the clinic features of ischemic heart desease associated with acid peptic disease. It was shown the more evident increase of myocardial infarction risk in associated pathology patients. Such results have to be caused by the special risk factor. As such factor we desided to study the hyperhomosysteinemia. During research there were discovered that the lowest vitamin B12 serum level and the highest homocysteine serum level have been registrated in associated pathology (ischemic heart disease and acid peptic disease according to long-term proton pump inhibitor use) patients. It was shown evident correlation between that changes and dyslipidemia. PMID:24908957

  7. [Hyperhomocysteinemia and cardiovascular risk profile in ischemic heart disease and acid peptic disease comorbidity patients].

    PubMed

    Zharkova, A V; Orlovs'kyĭ, V F

    2014-01-01

    Present article is devoted to the study of the clinic features of ischemic heart desease associated with acid peptic disease. It was shown the more evident increase of myocardial infarction risk in associated pathology patients. Such results have to be caused by the special risk factor. As such factor we desided to study the hyperhomosysteinemia. During research there were discovered that the lowest vitamin B12 serum level and the highest homocysteine serum level have been registrated in associated pathology (ischemic heart disease and acid peptic disease according to long-term proton pump inhibitor use) patients. It was shown evident correlation between that changes and dyslipidemia.

  8. An approach to the patient with suspected pericardial disease.

    PubMed

    Kyriakakis, C G; Mayosi, B M; de Vries, E; Isaacs, A; Doubell, A F

    2016-02-01

    Diseases of the pericardium commonly manifest in one of three ways: acute pericarditis, pericardial effusion and constrictive pericarditis. In the developed world, the most common cause of acute pericarditis is viral or idiopathic disease, while in the developing world tuberculous aetiology, particularly in sub-Saharan Africa, is commonplace owing to the high prevalence of HIV. This article provides an approach to the diagnosis, investigation and management of these patients. PMID:27303770

  9. [Aluminum-related bone disease in chronic hemodialysis patients].

    PubMed

    Jara, A; Rosenberg, H; Bruhn, C; Vaccarezza, A; Vial, S; Jalil, R; Cisternas, H

    1993-07-01

    Plasma aluminum (pAl) was measured in 58 patients coming from three centers using different preparation of dialysis water: deionizer (29 patients), softener (16 patients) and reverse osmosis (13 patients). Twenty five healthy subjects were used as controls. A deferoxamine test was performed to 11 of 19 patients with pAl between 40 and 200 micrograms/dl and a bone biopsy with double tetracycline staining was executed to 15 patients with pAl over 40 micrograms/dl. Mean pAl was 9.5 +/- 1.7 micrograms/dl in controls and 34.3 +/- 6.1 169 +/- 27.8 and 50.8 +/- 10.3 micrograms/dl in patients coming form centers using deionizers, softeners and reverse osmosis respectively. Seventy six percent of patients coming from centers using deionizers and 85% of patients coming from centers with reverse osmosis had pAl below 40 micrograms/dl and all had values below 200 micrograms/dl. Plasma aluminum had a increase of over 200 micrograms/dl in 6 of 11 patients in which the deferoxamine test was performed. Six patients had a positive staining for aluminum in bone biopsies (three with basal pAl over 200 micrograms/dl and one with a increase in pAL after deferoxamine < 200 micrograms/dl). Of these, 2 patients had a mixed osteodystrophy and 4 a low turnover bone disease. Centers with deionizers and reverse osmosis had very low aluminum levels in dialysis water and five of six patients with aluminum levels related bone disease came from the center using softener.

  10. Delusions in Patients with Alzheimer's Disease: A Multidimensional Approach.

    PubMed

    D'Onofrio, Grazia; Panza, Francesco; Sancarlo, Daniele; Paris, Francesco F; Cascavilla, Leandro; Mangiacotti, Antonio; Lauriola, Michele; Paroni, Giulia H; Seripa, Davide; Greco, Antonio

    2016-01-01

    In Alzheimer's disease (AD) patients with delusions, clinical outcomes and mortality result from a combination of psychological, biological, functional, and environmental factors. We determined the effect of delusions on mortality risk, clinical outcomes linked to comprehensive geriatric assessment (CGA), cognitive, depressive, and neuropsychiatric symptoms (NPS) in 380 consecutive AD patients with Mini-Mental State Examination, Clinical Dementia Rating scale, 15-item Geriatric Depression Scale, and Neuropsychiatric Inventory (NPI), assessing one-year mortality risk using the Multidimensional Prognostic Index (MPI). We included 121 AD patients with delusions (AD-D) and 259 AD patients without delusions (AD-noD). AD-D patients were significantly older, with higher age at onset and cognitive impairment, a more severe stage of dementia, and more depressive symptoms than AD-noD patients. Disease duration was slightly higher in AD-D patients than in those without delusions, although this difference was not statistically significant. At CGA, AD-D patients showed a higher grade of disability in basic and instrumental activities of daily living, and an increased risk of malnutrition and bedsores. The two groups of patients significantly differed in MPI score (AD-D: 0.65 versus AD-noD: 0.51, p <  0.0001) and MPI grade. AD-D patients showed also a significant higher score in NPI of the following NPS than AD-noD patients: hallucinations, agitation/aggression, depression mood, apathy, irritability/lability, aberrant motor activity, sleep disturbances, and eating disorders. Therefore, AD-D patients showed higher dementia severity, and higher impairment in cognitive and depressive symptoms, and several neuropsychiatric domains than AD-noD patients, and this appeared to be associated with higher multidimensional impairment and increased risk of mortality. PMID:26890768

  11. Deep vein thrombosis in patients with chronic kidney disease.

    PubMed

    Daneschvar, H Leon; Seddighzadeh, Ali; Piazza, Gregory; Goldhaber, Samuel Z

    2008-06-01

    Deep vein thrombosis (DVT) is a poorly understood complication of chronic kidney disease (CKD). The objective of our analysis was to profile DVT patients with and without CKD. We defined CKD as patients requiring dialysis or patients having nephrotic syndrome. We compared 268 patients with CKD (184 patients with dialysis-dependent renal disease and 84 with nephrotic syndrome) to 4,307 patients with preserved renal function from a prospective United States multicenter deep venous thrombosis (DVT) registry. Compared with non-CKD patients, CKD patients with DVT were younger (median age 62 vs. 69 years, p < 0.0001), more often African-American (p < 0.0001), and more often Hispanic (p = 0.0003). CKD patients underwent surgery more frequently in the three months prior to developing DVT (48.9% vs. 39.0%, p = 0.001) and more often had concomitant congestive heart failure (20.9% vs. 14.6%, p = 0.005). CKD patients suffered upper extremity DVT more frequently (30.0% vs. 10.8%, p < 0.0001). Patients with CKD presented less often with typical DVT symptoms of extremity discomfort (42.9% vs. 52.4%, p = 0.003) and difficulty ambulating (5.4% vs. 10.1%, p = 0.01). Prophylaxis rates prior to DVT were similarly low in CKD and non-CKD patients (44.2% vs. 38.0%, p = 0.06). Future studies of DVT in CKD patients should explore novel strategies for improving prophylaxis utilization and the detection of DVT in this special population. PMID:18521505

  12. [Clinical associations between retinal vascular diseases and cardiovascular diseases in patients with systemic atheromatosis].

    PubMed

    Stefănescu-Dima, Alin; Bătăiosu, Constantin; Sas, Teodor; Puianu, Mihaela

    2013-01-01

    A clinical study was conducted on a sample of 48 patients examined within 3 months. Of these, 27 patients were recruited by ophtalmologic criteria and 21 recruited by cardiologic criteria, 25% of these patients coming for routine check. They were investigated by ophthalmic examination, cardiological examination, imaging and laboratory examination. Testing has shown a strong link between cardiovascular disease and the eye of the patients investigated. The study demonstrated the need for interdisciplinary consultation for patients with vascular complaints in the carotid territory and a close correlation between the vascular and ophthalmologic pathology at this level.

  13. Management of retinal vascular diseases: a patient-centric approach

    PubMed Central

    Brand, C S

    2012-01-01

    Retinal vascular diseases are a leading cause of blindness in the Western world. Advancement in the clinical management of these diseases has been fast-paced, with new treatments becoming available as well as license extensions of existing treatments. Vascular endothelial growth factor (VEGF) has been implicated in certain retinal vascular diseases, including wet age-related macular degeneration (AMD), diabetic macular oedema (DMO), and retinal vein occlusion (RVO). Treatment of wet AMD and visual impairment due to either DMO or macular oedema secondary to RVO with an anti-VEGF on an as needed basis, rather than a fixed schedule, allows an individualised treatment approach; providing treatment when patients are most likely to benefit from it, while minimising the number of unnecessary intravitreal injections. Thus, an individualised treatment regimen reduces the chances of over-treatment and under-treatment, optimising both the risk/benefit profile of the treatment and the efficient use of NHS resource. Streamlining of treatment for patients with wet AMD and visual impairment due to either DMO or macular oedema secondary to RVO, by using one treatment with similar posology across all three diseases, may help to minimise burden of clinic capacity and complexity and hence optimise patient outcomes. Informed treatment decisions and efficient clinic throughput are important for optimal patient outcomes in the fast-changing field of retinal vascular diseases. PMID:22495396

  14. Xerostomy, dental caries and periodontal disease in HIV+ patients.

    PubMed

    Cavasin Filho, Julio César; Giovani, Elcio Magdalena

    2009-02-01

    We studied xerostomy and its correlation with periodontal and dental cavity diseases in HIV patients, through measurement of salivary flow and through variables such as saliva buffer capacity, salivary pH, periodontal index, MDF index, dental carie risk and risk of periodontal disease. One hundred patients were analyzed. They were distributed into two groups: Group I (test) - 50 patients evidently HIV+, from whom information was collected and analyzed regarding age, gender, skin color, habits, general and oral diseases, levels of T-CD4 lymphocytes, viral load and highly active antiretroviral therapy (HAART); and Group II - (control) 50 HIV- patients, from whom information was collected and analyzed regarding age, gender, skin color, habits, general and oral diseases. In both groups, measurement of salivary flow, pH and buffer capacity was made. Group I presented high MDF, bacteria plaque and bleeding, with a greater susceptibility to the risks of oral cavities and periodontal disease. The salivary flow and the buffering capacity of the saliva were low, indicating a high level of xerostomy. Two important modifying factors influence these pathologies in an incisive way: one is immunossuppression and the other is HAART therapy. The control exhibited results that are closer to normality; it had better oral-health conditions.

  15. Management of retinal vascular diseases: a patient-centric approach.

    PubMed

    Brand, C S

    2012-04-01

    Retinal vascular diseases are a leading cause of blindness in the Western world. Advancement in the clinical management of these diseases has been fast-paced, with new treatments becoming available as well as license extensions of existing treatments. Vascular endothelial growth factor (VEGF) has been implicated in certain retinal vascular diseases, including wet age-related macular degeneration (AMD), diabetic macular oedema (DMO), and retinal vein occlusion (RVO). Treatment of wet AMD and visual impairment due to either DMO or macular oedema secondary to RVO with an anti-VEGF on an as needed basis, rather than a fixed schedule, allows an individualised treatment approach; providing treatment when patients are most likely to benefit from it, while minimising the number of unnecessary intravitreal injections. Thus, an individualised treatment regimen reduces the chances of over-treatment and under-treatment, optimising both the risk/benefit profile of the treatment and the efficient use of NHS resource. Streamlining of treatment for patients with wet AMD and visual impairment due to either DMO or macular oedema secondary to RVO, by using one treatment with similar posology across all three diseases, may help to minimise burden of clinic capacity and complexity and hence optimise patient outcomes. Informed treatment decisions and efficient clinic throughput are important for optimal patient outcomes in the fast-changing field of retinal vascular diseases.

  16. Patients' substantialization of disease, the hybrid symptom and metaphysical care.

    PubMed

    Pârvan, Alexandra

    2015-06-01

    In the context of current scholarship concerned with facilitating integration between the biomedical and the patient-centred models of care, the article suggests that disease brings about an ontological disruption in patients, which is not directly addressed in either model, and may interfere with treatment and therapy outcomes if not met with a type of care termed here as 'metaphysical'. The receipt of diagnosis and medical care can give patients the sense that they are ontologically diminished, or less of a human, and along with physicians' approaches to and discourses about disease, may prompt them to seek ontological restoration or security in the same way as psychologically traumatized patients sometimes do: by treating the disease and/or the experience of harm associated with it as a thing that exists per se. I call this 'substantialization' of disease (or harm) and draw on Augustine's theory of non-substantial deficiencies (physiological and moral) and on Plato's and Plotinus's different takes on such defects in order to discuss what substantialization can do for patients. Based on literature that examines patients' ways of talking about and living with their disease, I speculate that substantialization can generate a 'hybrid symptom', consisting in patterns of exercising agency which may predispose to non-adherence. Ways in which physicians could provide metaphysical care are proposed, along with an understanding of chronic patients as hybrid ontological and agentic units, which draws on theories of enactive cognition. I opine that metaphysical care may facilitate integration between the depersonalized and personalized models of care. PMID:25312387

  17. Anaesthesia for patient with chronic obstructive pulmonary disease

    PubMed Central

    Duggappa, Devika Rani; Rao, G Venkateswara; Kannan, Sudheesh

    2015-01-01

    The chronic obstructive pulmonary disease has become a disease of public health importance. Among the various risk factors, smoking remains the main culprit. In addition to airway obstruction, the presence of intrinsic positive end expiratory pressure, respiratory muscle dysfunction contributes to the symptoms of the patient. Perioperative management of these patients includes identification of modifiable risk factors and their optimisation. Use of regional anaesthesia alone or in combination with general anaesthesia improves pulmonary functions and reduces the incidence of post-operative pulmonary complications. PMID:26556916

  18. The interpretation of dysprosody in patients with Parkinson's disease.

    PubMed Central

    Caekebeke, J F; Jennekens-Schinkel, A; van der Linden, M E; Buruma, O J; Roos, R A

    1991-01-01

    Prosodic features in the speech production of 21 patients with idiopathic Parkinson's disease were tested. The appreciation of vocal and facial expression was also examined in the same patients. Significant intergroup differences were found in the prosody production tasks but, in contrast to previous results, not in the receptive tasks on the recognition and appreciation of prosody and of facial expression. The discrepancy between the production and recognition of prosodic features does not support the suggestion that dysprosody in Parkinson's disease is necessarily a disorder of processing emotional information that could be misinterpreted as a dysarthria. PMID:2019840

  19. Cognitive Impairment and Dementia in Patients with Parkinson Disease

    PubMed Central

    Leverenz, James B.; Quinn, Joseph F.; Zabetian, Cyrus; Zhang, Jing; Montine, Kathleen S.; Montine, Thomas J.

    2009-01-01

    Parkinson disease (PD) is an already prevalent neurodegenerative disease that is poised to at least double over the next 25 years. Although best known for its characteristic movement disorder, PD is now appreciated commonly to cause cognitive impairment, including dementia, and behavioral changes. Dementia in patients with PD is consequential and has been associated with reduced quality of life, shortened survival, and increased caregiver distress. Here we review clinical presentation and progression, pathological bases, identification of genetic risk factors, development of small molecule biomarkers, and emerging treatments for cognitive impairment in patients with PD. PMID:19754405

  20. Fabrication of Fabry-Perot Interferometer Sensors and Characterization of their Performances for Aircraft Inspection

    NASA Technical Reports Server (NTRS)

    Pendergrass, LeRuth Q.

    1995-01-01

    This work provides the information for fabricating Fabry-Perot Interferometer sensors and their performances. The Fabry-Perot Interferometer sensors developed here will be used for the detection of flaws in aircraft structures. The sequel also contains discussion of the experimental setups for the Ultrasonic technique and the Fabry-Perot Interferometer.

  1. Cerebrospinal Fluid Proteome of Patients with Acute Lyme Disease

    SciTech Connect

    Angel, Thomas E.; Jacobs, Jon M.; Smith, Robert P.; Pasternack, Mark S.; Elias, Susan; Gritsenko, Marina A.; Shukla, Anil K.; Gilmore, Edward C.; McCarthy, Carol; Camp, David G.; Smith, Richard D.

    2012-10-05

    Acute Lyme disease results from transmission of and infection by the bacterium Borrelia burgdorferi following a tick bite. During acute infection, bacteria can disseminate to the central nervous system (CNS) leading to the development of Lyme meningitis. Here we have analyzed pooled cerebrospinal fluid (CSF) allowing for a deep view into the proteome for a cohort of patients with early-disseminated Lyme disease and CSF inflammation leading to the identification of proteins that reflect host responses, which are distinct for subjects with acute Lyme disease. Additionally, we analyzed individual patient samples and quantified changes in protein abundance employing label-free quantitative mass spectrometry based methods. The measured changes in protein abundances reflect the impact of acute Lyme disease on the CNS as presented in CSF. We have identified 89 proteins that differ significantly in abundance in patients with acute Lyme disease. A number of the differentially abundant proteins have been found to be localized to brain synapse and thus constitute important leads for better understanding of the neurological consequence of disseminated Lyme disease.

  2. Heparinised clotting factor concentrates in patients with Christmas disease and liver disease.

    PubMed

    Preston, F E; Malia, R G; Lilleyman, J S; Blackburn, E K

    1977-08-31

    Evidence has been sought of activation of the coagulation system in two groups of patients following the infusion of two heparinised clotting factor concentrates. No changes were detected in 13 patients with mild hepatic dysfunction. In six studies on patients with Christmas disease induced abnormalities occurred in only one. Activation of the coagulation mechanism did not occur in another individual who had received the same batch of material.

  3. Hypertension management: special considerations in chronic kidney disease patients.

    PubMed

    Smith, James P; Lewis, Julia B

    2004-12-01

    It has been estimated that approximately 11% of the US adult population has chronic kidney disease (CKD), and it has been demonstrated that the prevalence of hypertension rises significantly as renal function declines. Even mild CKD significantly increases mortality risk, and cardiovascular disease remains the main cause of death among these patients. Although CKD patients have generally been excluded from trials testing the effect of lowering blood pressure on cardiovascular outcomes, guidelines suggest lowering blood pressure in hopes of reducing cardiovascular mortality and slowing the progression of renal disease. The preferred antihypertensive agents among these patients are drugs that block the renin-angiotensin system. In most hypertensive CKD patients, however, multiple agents are necessary to reach blood pressure targets. In general, diuretics and calcium channel blockers are added subsequently as adjunctive therapy. Hopefully, with increased recognition of the unique aspects of treating hypertension in this population, end-stage renal disease and cardiovascular morbidity and mortality will be delayed or avoided in the millions of patients with CKD.

  4. Anticoagulation in chronic kidney disease patients-the practical aspects.

    PubMed

    Hughes, Stephen; Szeki, Iren; Nash, Michael J; Thachil, Jecko

    2014-10-01

    There is an increasing awareness about the risks of arterial and venous thromboembolism (TE) in hospital patients and general public which has led to consideration of thrombosis prevention measures in earnest. Early recognition of the symptoms of TE disease has led to timely administration of antiplatelet and anticoagulant drugs, translating to better outcome in many of these patients. In this respect, patients with chronic kidney disease (CKD) represent a special group. They indeed represent a high-risk group for thrombosis both in the cardiovascular territory and also in the venous circulation. At the same time, abnormalities in the platelet membranes put them at risk of bleeding which is significantly more than other patients with chronic diseases. Anticoagulation may be ideal to prevent the former, but the co-existing bleeding risk and also that the commonly used drugs for inhibiting coagulation are eliminated by renal pathways pose additional problems. In this review, we try to explain the complex thrombotic-haemorrhagic state of chronic kidney disease patients, and practical considerations for the management of anticoagulation in them with a focus on heparins. PMID:25878775

  5. Increasing Patient Activation Could Improve Outcomes for Patients with Inflammatory Bowel Disease.

    PubMed

    Shah, Shawn L; Siegel, Corey A

    2015-12-01

    Inflammatory bowel disease (IBD) is a complex disease process that often requires the integration of skills from various health care providers to adequately meet the needs of patients with IBD. The medical and surgical treatment options for IBD have become more complicated and are frequently a source of angst for both the patient and provider. However, it has become more important than ever to engage patients in navigating the treatment algorithm. Although novel in the IBD world, the concept of patients' becoming more active and effective managers of their care has been well studied in other disease processes such as diabetes mellitus and mental illness. This idea of patient activation refers to a patient understanding his or her role in the care process and having the skill sets and self-reliance necessary to manage his or her own health care. Over the past decade, evidence supporting the role of patient activation in chronic illness has grown, revealing improved health outcomes, enhanced patient experiences, and lower overall costs. Patient activation can be measured, and interventions have been shown to improve levels of activation over time and influence outcomes. A focus on patient activation is very appropriate for patients with IBD because this may potentially serve as a tool for IBD providers to not only improve patient outcomes and experience but also reduce health care costs.

  6. [Representations, myths, and behaviors among Chagas disease patients with pacemakers].

    PubMed

    Magnani, Claudia; Oliveira, Bruna Guimarães; Gontijo, Eliane Dias

    2007-07-01

    This anthropological study aimed to evaluate the incorporation of pacemakers into the lives of individuals with Chagas disease. An ethnographic methodology was used, based on an open interview focusing on the personal perceptions of 15 patients with chronic Chagas cardiopathy who had required pacemaker implants at the Federal University Hospital in Belo Horizonte, Minas Gerais State, Brazil. As part of a broader quality of life analysis, the study investigated the cultural, physical, and psychological resources used by patients to confront, explain, and accept the disease process, including mental representations on the cultural perception of the illness and definition of social relations. The study was intended to contribute to comprehensive patient care by health professionals, including psychosocial aspects. Decoded and integrated orientation in the cultural sphere assumes an important role in order to prevent disinformation from perpetuating the dissemination of popular myths as active elements in patient stigmatization. PMID:17572811

  7. Treatment selection for stage IIIA Hodgkin's disease patients

    SciTech Connect

    Prosnitz, L.R.; Cooper, D.; Cox, E.B.; Kapp, D.S.; Farber, L.R.

    1985-08-01

    Two treatment policies for the therapy of patients with Stage IIIA Hodgkin's disease are compared. From 1969-1976, 49 newly diagnosed and pathologically staged IIIA patients received total nodal irradiation (TNI) alone (no liver irradiation). Although actuarial survival was 80% at 5 years and 68% at 10 years, actuarial freedom from relapse was only 38% at 5 years. Accordingly, a new treatment policy was instituted in 1976. Patients with either CS IIIA disease, multiple splenic nodules, IIIA with a large mediastinal mass or III/sub 2/, received combined modality therapy (combination chemotherapy and irradiation). All others received TNI. Thirty-six patients have been treated under the new program. The actuarial survival is 90% at 5 years and the relapse-free survival is 87%, suggesting the superiority of this approach. Complications from the treatments are discussed.

  8. New aspects of cerebrovascular diseases in dialysis patients.

    PubMed

    Naganuma, Toshihide; Takemoto, Yoshiaki

    2015-01-01

    Growing evidence suggests that chronic kidney disease is a significant risk factor for stroke, subclinical cerebrovascular abnormalities, and cognitive impairment, independent of known cardiovascular risk factors. Cerebrovascular disease is also a major cause of death in dialysis patients, who have a much higher incidence of stroke compared to the normal population. Strokes in dialysis patients are also characterized by a higher incidence of hypertensive intracerebral hemorrhage compared with those in the general population. Recent studies on dialysis cohorts have shown that asymptomatic cerebrovascular diseases, including silent cerebral infarction (SCI), white matter hyperintensities (WMHs), and cerebral microbleeds (CMBs), are related to future onset of stroke, cognitive impairment, and dementia. Magnetic resonance imaging studies have revealed a higher prevalence of SCI in hemodialysis patients compared with that in controls, and a subsequent longitudinal study found that SCI is a risk factor for stroke and cardiovascular events as a whole. Other studies have shown that the prevalence of WMHs is significantly higher in dialysis patients than in healthy subjects and that WMHs are a risk factor for cardiovascular events. There is also a high prevalence of CMBs in hemodialysis patients, but the clinical significance of CMBs in these patients has not been examined in a longitudinal study. The incidence of cognitive impairment and dementia in dialysis patients is also twice as high as that in age-matched healthy subjects, and dialysis patients tend to have vascular-type dementia rather than Alzheimer-type dementia. More studies in dialysis patients are required to examine the prevention of stroke, cognitive impairment, and dementia in these patients.

  9. Simultaneous surgery in patients with both cardiac and noncardiac diseases

    PubMed Central

    Yang, Yang; Xiao, Feng; Wang, Jin; Song, Bo; Li, Xi-Hui; Li, Jian; He, Zhi-Song; Zhang, Huan; Yin, Ling

    2016-01-01

    Background To investigate the possibility and feasibility of simultaneous cardiac and noncardiac surgery. Methods From August 2000 to March 2015, 64 patients suffering from cardiac and noncardiac diseases have been treated by simultaneous surgeries. Results Two patients died after operations in hospital; thus, the hospital mortality rate was 3.1%. One patient with coronary heart disease, acute myocardial infarction, and a recurrence of bladder cancer accepted emergency simultaneous coronary artery bypass grafting (CABG), bladder cystectomy, and ureterostomy. He died of acute cerebral infarction complicated with multiple organ failure on the 153rd day after operation. The other patient with chronic constrictive pericarditis and right lung cancer underwent pericardial stripping and right lung lower lobectomy, which resulted in multiple organ failure, and the patient died on the tenth day postoperatively. The remaining 62 patients recovered and were discharged. The total operative morbidity was 17.2%: postoperative hemorrhage (n, % [1, 1.6%]), pulmonary infection and hypoxemia (2, 3.1%), hemorrhage of upper digestive tract (1, 1.6%), incisional infection (3, 4.7%), subphrenic abscess (1, 1.6%), and postoperative acute renal failure and hemofiltration (3, 4.7%). Of the 62 patients discharged, 61 patients were followed up. Eleven patients died with 10 months to 10 years during the follow-up. The mean survival time is 116.2±12.4 months. The cumulative survival rate is 50.8%. Conclusion Simultaneous surgeries in patients suffering from both cardiac and noncardiac benign or malignant diseases are safe and possible with satisfactory short-term and long-term survival. PMID:27486311

  10. Thyroid carcinoma in patients with Graves' disease: an institutional experience.

    PubMed

    Wei, Shuanzeng; Baloch, Zubair W; LiVolsi, Virginia A

    2015-03-01

    Graves' disease (GD) is an autoimmune disorder characterized by diffuse hyperplasia and excessive production of thyroid hormone. The association between thyroid carcinoma and GD is controversial. The prevalence of thyroid carcinoma was investigated in patients with GD who underwent thyroidectomy for thyroid nodular lesions or GD from 1994 to 2013 at our institution. Three hundred and forty-seven patients were placed into two groups: Graves' disease with nodular lesions group (group GN) included 85 patients who had thyroidectomy for nodular lesion, and Graves' disease group (group G) included 262 patients who had thyroidectomy for hyperthyroidism. There were 59 patients with thyroid carcinomas in the 85 patients (69 %) of group GN, including 3 follicular carcinomas (5 %), 1 poorly differentiated carcinoma (2 %), and 55 papillary thyroid carcinomas (93 %). Among the 55 papillary thyroid carcinomas, 19 cases were papillary thyroid microcarcinomas (34 %); and 5 cases of tall cell variant (9 %) were identified. There were 8 cases with lymph node metastasis (14 %), 6 cases with lymphovascular invasion (10 %), and 12 cases with extrathyroidal invasion (20 %). In addition, 24 carcinomas showed multiple foci of tumor (41 %). In contrast, 51 patients (19 %) of 262 patients in group G had carcinoma, including 2 follicular carcinomas (4 %) and 49 papillary thyroid carcinomas (96 %). In the 49 cases of papillary thyroid carcinomas, 47 cases were microcarcinomas (96 %); and 2 cases of tall cell variant (4 %) were found. There were no lymph node metastasis or lymphovascular and extrathyroidal invasion, but 11 cases (22 %) demonstrated multiple carcinoma foci. In conclusion, thyroid nodular lesions in patients with GD should raise a high suspicion of carcinoma, and these lesions are frequently clinically significant tumors. Incidental thyroid carcinomas in patients with GD are not uncommon, but most of them are low-risk papillary thyroid microcarcinoma without lymph node

  11. Atmospheric temperature sensing with a multiorder Fabry-Perot interferometer.

    PubMed

    Wang, J; Drayson, S R; Hayes, P B

    1989-12-01

    A Fabry-Perot interferometer has a periodic response. By matching the free spectral range of a Fabry-Perot interferometer (FPI) with the period of the CO(2) spectrum, considerable advantages of throughput and spectral resolution can be achieved, leading to high spectral resolution and vertical resolution for atmospheric temperature sounders. In this paper, the concept of a high resolution multiorder Fabry-Perot interferometer using portions of the 15-microm and 4.3-microm bands of CO(2)for the purpose of atmospheric temperature sounding is discussed. Suitable sounding spectral positions, FPI free spectral range, and weighting functions are calculated. An effective spectral resolution of 0.02 cm(-1) can be achieved by the proposed sounder with a FPI finess of ~100 which is within the present state-of-the-art technology in the infrared region, leading to considerable improvement in the vertical resolution of the atmospheric temperature sounder. PMID:20555996

  12. Fabry-Pérot interferometry for long range displacement sensing.

    PubMed

    Thurner, Klaus; Braun, Pierre-François; Karrai, Khaled

    2013-09-01

    We investigate different optical configurations of a low-finesse Fabry-Pérot interferometer used for displacement sensing. The different configurations of the Fabry-Pérot cavity are selected in order to achieve large measurement ranges and angular alignment tolerances and to make the interferometer applicable for targets of various reflectivity ranges. The possible working ranges and angular alignment tolerances are characterized with respect to the interference contrast which is a measure for the signal quality. The use of a confocal arrangement enables a measurement range of up to about 0.4 m, or to work with an angular tolerance of more than ±0.2°. In order to predict the optical response of arbitrary configurations of the Fabry-Pérot interferometer, we introduce a simulation method based on the Airy formula and the fiber optic coupling efficiency.

  13. The South Pole Imaging Fabry Perot Interferometer (SPIFI)

    NASA Technical Reports Server (NTRS)

    Stacey, G. J.; Bradford, C. M.; Swain, M. R.; Jackson, J. M.; Bolato, A. D.; Davidson, J. A.; Savage, M.

    1996-01-01

    The design and construction of the South Pole imaging Fabry-Perot interferometer (SPIFI) is reported. The SPIFI is a direct detection imaging spectrometer for use in the far infrared and submillimeter bands accessible to the 1.7 m telescope at the South Pole, and in the submillimeter bands accessible to the 15 m James Clerk Maxwell Telescope (JCMT), HI. It employs a 5 x 5 silicon bolometer array and three cryogenic Fabry Perot interferometers in series in order to achieve velocity resolutions of between 300 km/s and 30 km/s over the entire field of view with a resolution of up to 1 km/s at the center pixel. The scientific justification for the instrument is discussed, considering the spectral lines available to SPIFI. The optical path, the cryogenic Fabry-Perot, the adiabatic demagnetization refrigerator and the detector array are described. The instrument's sensitivity is presented and compared with coherent systems.

  14. Novel tunable Fabry-Perot filters for FBG sensing system

    NASA Astrophysics Data System (ADS)

    Wu, Wei; Tong, Xinglin; Liu, Xin; Chen, Ting

    2008-12-01

    Tunable filters with a wide tunable rang have been found wide applications and be the key component in fiber optical communication system and fiber sensor system. It is hard to fabricate a fiber Fabry-Perot tunable filter. In this paper, the principles of Fabry-Perot filter is introduced, and a novel tunable Fabry-Perot filter is designed and fabricated. The fabricated process of the tunable filter is described and the transmission spectrum of tunable F-P filter in experiment is given and discussed. The tunable F-P filter has the advantages of simple structure, low modulated voltage and cost effectiveness. The filter can be applied to wavelength interrogation in fiber Bragg grating (FBG) sensing system to detect the drift of the fiber Bragg wavelength.

  15. Interstitial Nephritis in a Patient with Inflammatory Bowel Disease

    PubMed Central

    Vasanth, Payaswini; Parmley, Michelle; Torrealba, Jose

    2016-01-01

    Tubulointerstitial nephritis in patients with inflammatory bowel disease has been linked to the use of 5-ASA derivatives. Various aspects of this theory have been challenged with a potential role for the underlying autoimmune disorder. Steroids are the mainstay of treatment and mycophenolate mofetil might be an effective alternative. We report a patient who responded well to mycophenolate despite continuing mesalamine, the suspected offending agent. PMID:27703822

  16. Inflammatory pancreatic diseases in older patients: recognition and management.

    PubMed

    Uomo, Generoso

    2003-01-01

    The aging process influences and modifies the clinical picture and treatment modalities of inflammatory pancreatic diseases in elderly patients. The two major categories of inflammatory exocrine pancreatic diseases seen in the elderly are acute pancreatitis (AP) and chronic pancreatitis (CP). In elderly patients with AP, the presence of concomitant diseases affecting renal, hepatic and cardiopulmonary function make the early clinical assessment of the severity of AP inaccurate at the time of admission to hospital. In addition, the classical multifactorial scoring system routinely utilised in clinical practice to determine the severity of AP may overscore elderly patients because increasing age is associated with more points. Contrast-enhanced computed tomography is particularly useful in assessing the severity of AP and is required in all patients suspected with severe AP. It should be repeated after a certain time period to monitor the disease. The most important aspect of the management of elderly patients with severe AP is the prevention and treatment of systemic and local complications. Treatment of AP should address the removal of aetiological factor(s) and support of organ systems and hydroelectrolytic/caloric balance; specific treatments (antiproteases, antibacterials) should also be administered to patients with severe AP. Surgery is indicated mainly when infection occurs following pancreatic necrosis and/or fluid collection. However, in selected patients with a high anaesthetic risk, alternative, less invasive drainage options (percutaneous, endoscopic) should be considered. CP rarely occurs in older age, and it should be suspected based on clinical findings. The greatest challenge is the differentiation between CP and pancreatic cancer. Treatment of CP in the elderly should be directed at controlling the symptoms, by management of diabetes and exocrine insufficiency because pain and complications are rare in elderly patients with CP. Compliance with

  17. Impact of Perceived Stigma on Inflammatory Bowel Disease Patient Outcomes

    PubMed Central

    Taft, Tiffany H.; Keefer, Laurie; Leonhard, Christoph; Nealon-Woods, Michele

    2010-01-01

    Background Perceived stigma has been linked to disease outcome in several chronic illnesses. Stigmatization of illness often leads to increased psychological distress and poorer quality of life. While body stigma has been identified as a specific inflammatory bowel disease (IBD) patient concern, no study to date has systematically investigated the presence of stigma in IBD or its effects on disease course and management. Methods Participants were recruited online and through the Illinois chapter of the Crohn’s & Colitis Foundation of America. A screening measure was used to identify an established IBD diagnosis. Patients completed the Perceived Stigma Scale in IBS, Inflammatory Bowel Disease Questionnaire, Rosenberg Self-Esteem Scale, General Self-Efficacy Scale, the Brief Symptom Inventory, and the Rating Form of IBD Patient Concerns. Results A total of 211 patients (156 CD, 55 UC) with a confirmed diagnosis for a minimum of 6 months completed the study. Eighty-four percent of participants reported perceived stigma. Hierarchical regression demonstrated that perceived stigma accounted for 10%–22% of the variance in health-related quality of life scores, 4%–16% for psychological distress, 5% for medication adherence, 19% for self-esteem, and 8% for self-efficacy. Effect sizes were small, but comparable with more traditionally evaluated patient variables. Conclusions The majority of IBD patients report some perceived stigmatization. These results suggest that perceived stigma is a significant predictor of poorer outcomes in patients with IBD when controlling for illness and demographic variables. Perceived stigma is a potentially important psychosocial factor in IBD patient care and warrants further investigation. PMID:19180581

  18. Inflammatory pancreatic diseases in older patients: recognition and management.

    PubMed

    Uomo, Generoso

    2003-01-01

    The aging process influences and modifies the clinical picture and treatment modalities of inflammatory pancreatic diseases in elderly patients. The two major categories of inflammatory exocrine pancreatic diseases seen in the elderly are acute pancreatitis (AP) and chronic pancreatitis (CP). In elderly patients with AP, the presence of concomitant diseases affecting renal, hepatic and cardiopulmonary function make the early clinical assessment of the severity of AP inaccurate at the time of admission to hospital. In addition, the classical multifactorial scoring system routinely utilised in clinical practice to determine the severity of AP may overscore elderly patients because increasing age is associated with more points. Contrast-enhanced computed tomography is particularly useful in assessing the severity of AP and is required in all patients suspected with severe AP. It should be repeated after a certain time period to monitor the disease. The most important aspect of the management of elderly patients with severe AP is the prevention and treatment of systemic and local complications. Treatment of AP should address the removal of aetiological factor(s) and support of organ systems and hydroelectrolytic/caloric balance; specific treatments (antiproteases, antibacterials) should also be administered to patients with severe AP. Surgery is indicated mainly when infection occurs following pancreatic necrosis and/or fluid collection. However, in selected patients with a high anaesthetic risk, alternative, less invasive drainage options (percutaneous, endoscopic) should be considered. CP rarely occurs in older age, and it should be suspected based on clinical findings. The greatest challenge is the differentiation between CP and pancreatic cancer. Treatment of CP in the elderly should be directed at controlling the symptoms, by management of diabetes and exocrine insufficiency because pain and complications are rare in elderly patients with CP. Compliance with

  19. Functional capacity of Brazilian patients with Parkinson's disease (PD): relationship between clinical characteristics and disease severity.

    PubMed

    Barbieri, Fabio A; Rinaldi, Natalia M; Santos, Paulo Cezar R; Lirani-Silva, Ellen; Vitório, Rodrigo; Teixeira-Arroyo, Cláudia; Stella, Florindo; Gobbi, Lilian Teresa B

    2012-01-01

    The present study had three objectives: (a) to characterize the functional capacity of patients with PD, (b) to assess the relationship between the physical fitness components of functional capacity with clinical characteristics and disease severity, and (c) to compare the physical fitness components of functional capacity with clinical characteristics according to disease severity. The study included 54 patients with idiopathic PD who were distributed into two groups according to PD severity: unilateral group (n=35); and bilateral group (n=19). All patients underwent psychiatric assessment by means of the Hoehn and Yahr (HY) staging of PD, the Unified Parkinson's Disease Rating Scale (UPDRS), the Hospital Anxiety and Depression Scale (HADS-A and HADS-D, respectively), and The Mini-Mental State Examination (MMSE). The physical fitness components of functional capacity were evaluated over a 2-day period, using recommendations by the American Alliance for Health, Physical Education, Recreation and Dance, and the Berg Balance Scale (BBS). Pearson correlation coefficients and multiple regressions were calculated to test the correlation between functional capacity and clinical characteristics, and to predict clinical scores from physical performance, respectively. Clinical variables and physical component data were compared between groups using analysis of variance to determine the effects of disease severity. Patients with advanced disease showed low levels of functional capacity. Interestingly, patients with good functional capacity in one of the physical fitness components also showed good capacities in the other components. Disease severity is a major factor affecting functional capacity and clinical characteristics. Medical providers should take disease severity into consideration when prescribing physical activity for PD patients, since the relationship between functional capacity and clinical characteristics is dependent on disease severity. PMID:21963176

  20. Oral disease in terminally ill cancer patients with xerostomia.

    PubMed

    Sweeney, M P; Bagg, J; Baxter, W P; Aitchison, T C

    1998-03-01

    Xerostomia is common among patients with advanced cancer and is likely to contribute to oral disease. This study determined the prevalence of oral signs and symptoms among a group of 70 terminally ill cancer patients [25 male, 45 female; age range 42-88 (mean 66) years] complaining of oral dryness, and examined the associated oral microflora. Imprint cultures for yeasts, coliforms and staphylococci were collected from the tongue and, in denture wearers, from the plate and denture fitting surface. A swab was collected for culture of herpes simplex virus. 68 patients (97%) complained of oral dryness during the day and 59 patients (84%) complained of oral dryness at night. Oral soreness was reported by 22 patients (31%). 46 patients (66%) had difficulty talking and 36 (51%) reported difficulty eating. Of the 56 denture wearers, 40% complained of denture problems. On examination, 63 (90%) of the patients had clinically dry mouths. Oral mucosal abnormalities were detected in 45 patients (65%), most commonly erythema (20%), coated tongue (20%), atrophic glossitis (17%), angular cheilitis (11%) and pseudomembraneous candidosis (9%). 47 (67%) of the patients carried yeasts, 18 (26%) were carriers of Staphylococcus aureus and 13 (19%) carried coliforms. Herpes simplex virus was isolated from 5 patients, of whom 2 had herpetic stomatitis. Oral complications and abnormalities of the oral microflora can be detected among significant numbers of terminally ill cancer patients with xerostomia.

  1. Genetics of cardiac disease in the small animal patient.

    PubMed

    Meurs, Kathryn M

    2010-07-01

    There is increasing evidence that many forms of congenital and acquired cardiovascular disease in small animal patients are of familial origin. The large number of familial diseases in domestic purebred animals is thought to be associated with the desire to breed related animals to maintain a specific appearance and the selection of animals from a small group of popular founders (founder effect). Clinicians can use knowledge that a particular trait or disease may be inherited to provide guidance to owners and animal breeders to reduce the frequency of the trait. Even if the molecular cause is not known, identification of a pattern of inheritance and information on clinical screening can be useful for a breeder trying to make breeding decisions. Common forms of inheritance for veterinary diseases include autosomal recessive, autosomal dominant, X-linked recessive, and polygenic. These genetic traits and their possible involvement in cardiac disease in small animals are discussed in this article.

  2. Dental management of a patient with Wilson's disease.

    PubMed

    da Silva Santos, Paulo Sergio; Fernandes, Karin Sa; Fraige, Alexandre; Gallottini, Marina

    2015-01-01

    Wilson's disease (WD) is an autosomal recessive genetic disease, characterized by the accumulation of copper in the body--primarily in the brain and liver--due to defective biliary copper excretion by hepatocytes. WD may manifest clinically as liver disease, neurologic symptoms, and Kayser-Fleischer corneal rings. This article presents a case involving a 43-year-old man who had WD prior to liver transplantation. Oral examination revealed petechiae in the oral mucosa, poor oral hygiene, periodontal disease, missing teeth, and several carious teeth. Patients with WD may present systemic changes that affect dental care. Dental treatment prior to liver transplantation is recommended to eliminate the oral foci of infection and control oral disease.

  3. Palliative care for patients with advance chronic kidney disease.

    PubMed

    Douglas, C A

    2014-01-01

    Over the past three decades there has been a dramatic rise in the number of patients with advanced chronic kidney disease. The fastest expanding group receiving dialysis has been the elderly. However, for those patients who are very elderly with co-morbidity, dialysis may not offer a survival advantage. Therefore, active conservative management is a growing service offered by many renal units in the UK and focuses on non-dialytic correction of fluid and electrolyes, management of renal anaemia, and assessment and management of symptoms. The five-year survival of a patient over 75 years of age starting dialysis is 20% and if a patient is over 75 years, has co-morbidity, or a poor performance status, dialysis may not offer any survival advantage. Whether a patient is managed by dialysis or by conservative management the symptom burden suffered is high. These symptoms are under-recognised and often managed poorly because of increased drug toxicity in renal failure. This complex group of patients require close working between renal, palliative care, medicine for the elderly, and community teams, to allow best quality of life and end of life care. This review describes some of the challenges in providing Advanced Care Planning for dialysis and conservatively managed patients, highlights the symptom burden of patients with advanced chronic kidney disease, and offers guidance in how to manage the symptoms effectively.

  4. Cytokines in Pericardial Effusion of Patients with Inflammatory Pericardial Disease

    PubMed Central

    Karatolios, Konstantinos; Moosdorf, Rainer; Maisch, Bernhard; Pankuweit, Sabine

    2012-01-01

    Background. The role of inflammatory and angiogenic cytokines in patients with inflammatory pericardial effusion still remains uncertain. Methods. We assessed pericardial and serum levels of VEGF, bFGF, IL-1β and TNF-α by ELISA in patients with inflammatory pericardial effusion (PE) of autoreactive (n = 22) and viral (n = 11) origin, and for control in pericardial fluid (PF) and serum (n = 26) of patients with coronary artery disease (CAD) undergoing coronary artery bypass graft surgery. Results. VEGF levels were significantly higher in patients with autoreactive and viral PE than in patients with CAD in both PE (P = 0, 006 for autoreactive and P < 0, 001 for viral PE) and serum (P < 0, 001 for autoreactive and P < 0, 001 for viral PE). Pericardial bFGF levels were higher compared to serum levels in patients with inflammatory PE and patients with CAD (P ≤ 0, 001 for CAD; P ≤ 0, 001 for autoreactive PE; P = 0, 005 for viral PE). Pericardial VEGF levels correlated positively with markers of pericardial inflammation, whereas pericardial bFGF levels showed a negative correlation. IL-1β and TNF-α were detectable only in few PE and serum samples. Conclusions. VEGF and bFGF levels in pericardial effusion are elevated in patients with inflammatory PE. It is thus possible that VEGF and bFGF participate in the pathogenesis of inflammatory pericardial disease. PMID:22577248

  5. Low risk of coronary artery disease in patients with acromegaly.

    PubMed

    Dos Santos Silva, Cintia Marques; Lima, G A B; Volschan, I C M; Gottlieb, I; Kasuki, L; Neto, L Vieira; Gadelha, M R

    2015-12-01

    The aims of this study are to determine the prevalence of coronary atherosclerosis in acromegalic patients and to investigate the relationship between the coronary artery calcium score (CS) and acromegaly status and clinical parameters [Framingham risk score (FRS)]. Fifty-six acromegalic patients and paired non-acromegalic volunteers were stratified according to the FRS into low-, intermediate-, and high-risk groups. CS was assessed using multidetector computed tomography. The patients were considered to have controlled or active acromegaly at the time they were submitted to evaluation. Sixty-six percent of acromegalic patients exhibited arterial hypertension, 36 % had diabetes mellitus, and 34 % had hypercholesterolemia. The median FRS and the median risk for cardiovascular event within the next 10 years were similar in the acromegalics and the controls. The median total CS and CS >75th percentile didn't differ significantly between these groups. In patients with controlled acromegaly, a low, intermediate, or high FRS risk was observed in 86, 14, and 0 %, respectively. In patients with active disease, a low, intermediate, or high FRS risk was verified in 94, 3, and 3 %, respectively, and differences between the controlled and active groups were not significant. Seventy-two percent of the patients had total CS = 0, and there were no differences between the controlled and active groups. The risk of coronary artery disease in acromegalic patients, determined according to FRS and CS, is low despite the high prevalence of metabolic abnormalities.

  6. Suprachiasmatic Nucleus Neuropeptide Expression in Patients with Huntington's Disease

    PubMed Central

    van Wamelen, Daniel J.; Aziz, N. Ahmad; Anink, Jasper J.; van Steenhoven, Robin; Angeloni, Debora; Fraschini, Franco; Jockers, Ralf; Roos, Raymund A. C.; Swaab, Dick F.

    2013-01-01

    Study Objective: To study whether sleep and circadian rhythm disturbances in patients with Huntington's disease (HD) arise from dysfunction of the body's master clock, the hypothalamic suprachiasmatic nucleus. Design: Postmortem cohort study. Patients: Eight patients with HD and eight control subjects matched for sex, age, clock time and month of death, postmortem delay, and fixation time of paraffin-embedded hypothalamic tissue. Measurements and Results: Using postmortem paraffin-embedded tissue, we assessed the functional integrity of the suprachiasmatic nucleus in patients with HD and control subjects by determining the expression of two major regulatory neuropeptides, vasoactive intestinal polypeptide and arginine vasopressin. Additionally, we studied melatonin 1 and 2 receptor expression. Compared with control subjects, the suprachiasmatic nucleus contained 85% fewer neurons immunoreactive for vasoactive intestinal polypeptide and 33% fewer neurons for arginine vasopressin in patients with HD (P = 0.002 and P = 0.027). The total amount of vasoactive intestinal polypeptide and arginine vasopressin messenger RNA was unchanged. No change was observed in the number of melatonin 1 or 2 receptor immunoreactive neurons. Conclusions: These findings indicate posttranscriptional neuropeptide changes in the suprachiasmatic nucleus of patients with HD, and suggest that sleep and circadian rhythm disorders in these patients may at least partly arise from suprachiasmatic nucleus dysfunction. Citation: van Wamelen DJ; Aziz NA; Anink JJ; van Steenhoven R; Angeloni D; Fraschini F; Jockers R; Roos RAC; Swaab DF. Suprachiasmatic nucleus neuropeptide expression in patients with Huntington's disease. SLEEP 2013;36(1):117–125. PMID:23288978

  7. Perioperative corticosteroid management for patients with inflammatory bowel disease.

    PubMed

    Hicks, Caitlin W; Wick, Elizabeth C; Salvatori, Roberto; Ha, Christina Y

    2015-01-01

    Guidelines on the appropriate use of perioperative steroids in patients with inflammatory bowel disease (IBD) are lacking. As a result, corticosteroid supplementation during and after colorectal surgery procedures has been shown to be highly variable. A clearer understanding of the indications for perioperative corticosteroid administration relative to preoperative corticosteroid dosing and duration of therapy is essential. In this review, we outline the basic tenets of the hypothalamic-pituitary-adrenal (HPA) axis and its normal response to stress, describe how corticosteroid use is thought to affect this system, and provide an overview of the currently available data on perioperative corticosteroid supplementation including the limited evidence pertaining to patients with inflammatory bowel disease. Based on currently existing data, we define "adrenal suppression," and propose a patient-based approach to perioperative corticosteroid management in the inflammatory bowel disease population based on an individual's historical use of corticosteroids, the type of surgery they are undergoing, and HPA axis testing when applicable. Patients without adrenal suppression (<5 mg prednisone per day) do not require extra corticosteroid supplementation in the perioperative period; patients with adrenal suppression (>20 mg prednisone per day) should be treated with additional perioperative corticosteroid coverage above their baseline home regimen; and patients with unclear HPA axis function (>5 and <20 mg prednisone per day) should undergo preoperative HPA axis testing to determine the best management practices. The proposed management algorithm attempts to balance the risks of adrenal insufficiency and immunosuppression.

  8. Psychiatric disorders in patients with end-stage renal disease.

    PubMed

    Martiny, Camila; e Silva, Adriana Cardoso de Oliveira; Neto, José Pedro Simões; Nardi, Antonio Egidio

    2012-09-01

    Psychiatric disorders in patients with end-stage renal disease are associated with poor prognosis and quality of life. The goal of this study is to investigate the association between psychiatric disorders and renal disease in patients undergoing dialysis treatment, compared with other chronic diseases, appreciating the demographic status of these patients. Sixty-nine patients participated in a diagnostic interview and gave socio-demographic data. The population was composed of 55% men aged 19-77 years with an average age of 50 years (95% CI = 47-54 years). The prevalence of psychiatric disorders found in this study (46.6%) was compared with that found in patients with asthma, polycystic ovary syndrome and HIV-positive. Moreover, the prevalence of the four most common psychiatric disorders which were identified among patients on dialysis were also the subject of comparison between them and others. These results demonstrate the relationship between the various psychiatric disorders and are compatible with other research studies.

  9. Inflammatory dysregulation of blood monocytes in Parkinson's disease patients.

    PubMed

    Grozdanov, Veselin; Bliederhaeuser, Corinna; Ruf, Wolfgang P; Roth, Valerie; Fundel-Clemens, Kathrin; Zondler, Lisa; Brenner, David; Martin-Villalba, Ana; Hengerer, Bastian; Kassubek, Jan; Ludolph, Albert C; Weishaupt, Jochen H; Danzer, Karin M

    2014-11-01

    Despite extensive effort on studying inflammatory processes in the CNS of Parkinson's disease (PD) patients, implications of peripheral monocytes are still poorly understood. Here, we set out to obtain a comprehensive picture of circulating myeloid cells in PD patients. We applied a human primary monocyte culture system and flow cytometry-based techniques to determine the state of monocytes from PD patients during disease. We found that the classical monocytes are enriched in the blood of PD patients along with an increase in the monocyte-recruiting chemoattractant protein CCL2. Moreover, we found that monocytes from PD patients display a pathological hyperactivity in response to LPS stimulation that correlates with disease severity. Inflammatory pre-conditioning was also reflected on the transcriptome in PD monocytes using next-generation sequencing. Further, we identified the CD95/CD95L as a key regulator for the PD-associated alteration of circulating monocytes. Pharmacological neutralization of CD95L reverses the dysregulation of monocytic subpopulations in favor of non-classical monocytes. Our results suggest that PD monocytes are in an inflammatory predisposition responding with hyperactivation to a "second hit". These results provide the first direct evidence that circulating human peripheral blood monocytes are altered in terms of their function and composition in PD patients. This study provides insights into monocyte biology in PD and establishes a basis for future studies on peripheral inflammation. PMID:25284487

  10. Self-Care Among Patients With Inflammatory Bowel Disease

    PubMed Central

    Yngman-Uhlin, Pia; Hjortswang, Henrik; Riegel, Barbara; Stjernman, Henrik; Hollman Frisman, Gunilla

    2016-01-01

    Inflammatory bowel disease (IBD) is a chronic disease of unknown etiology. The disease occurs early in life and the burden of symptoms is significant. Patients need to perform self-care to handle their symptoms, but knowledge about what kind of self-care patients do is limited and these individuals need to learn how to manage the symptoms that arise. The aim of this study was to explore self-care among patients with IBD. Twenty adult patients with IBD, 25–66 years of age, were interviewed. Data were analyzed by performing a qualitative content analysis. Four categories with 10 subcategories emerged from the analysis of the interviews. The self-care patients perform consists of symptom recognition (subcategories: physiological sensations and psychological sensations), handling of symptoms (subcategories: adapting the diet, using medical treatment, stress management, and using complementary alternative medicine), planning life (subcategories: planning for when to do activities and when to refrain from activities), and seeking new options (subcategories: seeking knowledge and personal contacts). Self-care consists of symptom recognition, handling life through planning, and accommodating the existing situation with the ultimate goal of maintaining well-being. Being one step ahead facilitates living with IBD. A decision to actively participate in care of a chronic illness is a prerequisite for self-care. Healthcare professionals must consider patients' potential for and desire for self-care when giving advice on self-care activities. Doing so may help people better cope with IBD. PMID:26166423

  11. Vulval Crohn's disease: a clinical study of 22 patients.

    PubMed

    Laftah, Zainab; Bailey, Clare; Zaheri, Shirin; Setterfield, Jane; Fuller, Lucinda Claire; Lewis, Fiona

    2015-04-01

    Vulval Crohn's disease [VCD] is a challenging condition that can occur without gastrointestinal Crohn's disease [GCD]. We reviewed the clinical features and effects of therapy in a cohort of 22 patients with VCD to determine whether the presence of GCD affected the clinical presentation and treatment response. Of these, 64% had GCD and 65% of these presented with GCD prior to VCD. Fissuring, ulceration, and scarring were more common in those with VCD alone. Potent and ultra-potent topical steroids showed benefit in most patients. There was no clear evidence of sustained remission with metronidazole. Azathioprine was the most commonly used oral immunosuppressive agent, with an efficacy of 57%. Patients with both VCD and GCD had a better clinical response compared with those with VCD alone [70% and 25%, respectively]. Infliximab and adalimumab were effective in 56% and 71% of patients, respectively. Excision of redundant tissue was helpful in four patients. The absence of GCD may delay the diagnosis in women who present with vulval symptoms alone. The more active clinical features in those with VCD alone may represent a more aggressive condition, or the severity of the cutaneous disease may have been reduced by immunosuppression taken for GCD. Several patients obtained sustained remission in their GCD with anti-tumor necrosis factor alpha [anti-TNFα] agents while the VCD remained active.

  12. Body Image Dissatisfaction in Patients with Inflammatory Bowel Disease

    PubMed Central

    Saha, Sumona; Zhao, Ying-Qi; Shah, Samir A.; Esposti, Silvia Degli; Lidofsky, Sheldon; Shapiro, Jason; LeLeiko, Neil; Bright, Renee; Law, Meaghan; Moniz, Heather; Samad, Zahid; Merrick, Marjorie; Sands, Bruce E.

    2014-01-01

    Background Despite the fact that the inflammatory bowel diseases (IBD) and their treatments may affect physical appearance, the effect of IBD on body image is poorly understood. The aims of this study were to determine whether body image dissatisfaction (BID) changes over time in patients with IBD and to examine the demographic and disease-related variables associated with decreased body image. Methods Adults aged 18 and above in the Ocean State Crohn's and Colitis Area Registry with at least 2 years of follow-up were eligible for this study. All patients were enrolled within 6 months of IBD diagnosis and followed prospectively. BID was assessed using a modified version of the Adapted Satisfaction With Appearance (ASWAP) questionnaire. Total ASWAP scores and 2 sub-scores were calculated. To assess for changes over time, general linear models for correlated data were used for continuous outcomes and generalized estimating equations were used for discrete outcomes. Results Two hundred seventy-four patients were studied. BID was found to be stable over time among men and women with IBD despite overall improvements in disease activity. No differences were found in BID according to IBD subtype. Female gender, greater disease activity, higher symptom burden, longer duration of steroid use, dermatologic and musculoskeletal manifestations of IBD, and ileocolonic disease location among patients with Crohn's disease were associated with greater BID. Greater BID was associated with lower health-related quality of life (HRQOL). Conclusions BID remains stable in an incident cohort of IBD despite improved disease activity and is associated with lower HRQOL PMID:25569736

  13. T-Helper Cytokine Profiles in Patients with Kawasaki Disease

    PubMed Central

    Lee, Sang Bum; Kim, Young Hyun; Hyun, Myung Chul; Kim, Yeo Hyang; Kim, Hee Sun

    2015-01-01

    Background and Objectives Kawasaki disease is an acute systemic vasculitis of which pathogenesis suspected is caused by immune dysregulation. The goal of this study is to evaluate the activation pattern of T helper cell type 1 (Th1) and T helper cell type 2 (Th2) in patients with Kawasaki disease. Subjects and Methods Prospective study of 60 patients (male 36, female 24) with diagnosis of Kawasaki disease were enrolled. One hundred and eighty blood samples from these patients were collected according to the different clinical stages {before initial intravenous immunoglobulin (IVIG), 5 days after initial IVIG, 2 months after initial IVIG}. The plasma level of Th1 cytokines; interferon-gamma (IFN-γ) & interleukin (IL)-2 and Th2 cytokines; IL-4 & IL-10 were measured by enzyme-liked immunosorbent assay. Results In all patients, the plasma level of Th1 cytokines (IFN-γ, IL-2) and Th2 cytokines (IL-4 and IL-10) were markedly elevated during the acute stage of Kawasaki disease. Since then, the plasma level of all these cytokines decreased significantly along with the process of clinical stages. Regardless of the existence of coronary artery lesion or no response to initial IVIG treatment, there were no significant differences between them. Conclusion These data suggest that both Th1 and Th2 cells may be activated simultaneously during the acute stage of Kawasaki disease. Further studies are therefore required to establish the difference of activation pattern of T helper cells between Kawasaki disease and other inflammatory diseases. PMID:26617655

  14. Navigating patients and caregivers through the course of Alzheimer's disease.

    PubMed

    Aupperle, Peter M

    2006-01-01

    Alzheimer's disease (AD) prevalence rates in the United States are expected to triple over the next 50 years, a consequence of the overall aging of the U.S. population. Because of the profound and far-reaching impact of AD, this projected increase in prevalence is expected to pose a tremendous challenge. Alzheimer's disease results in the cognitive and functional deterioration of the affected patient, and behavioral disturbances frequently accompany the disease. Furthermore, because of its progressive and debilitating nature, AD takes a dramatic emotional, physical, and financial toll on the patient's primary caregiver. Nonetheless, despite the burden experienced by both patients and caregivers, strategies for minimizing the negative consequences of AD are well characterized. Central to the successful management of AD is the prompt and accurate diagnosis of the disease, with current guidelines calling for a 2-tiered approach in which patients first undergo screening using a brief cognitive assessment tool, followed by a comprehensive battery of physical, psychological, and neurologic tests if signs of possible cognitive impairment are evident upon screening. Once a conclusive diagnosis of AD has been made, the development of a disease management approach targeting the needs of the patient and his or her caregiver becomes a primary concern. Pharmacologic interventions may play an important role in such approaches, as agents such as cholinesterase inhibitors and the N-methyl-D-aspartate receptor antagonist memantine have been associated with favorable outcomes for patients and caregivers alike. However, in addition to the therapeutic benefits of these agents, associated side effects and potential drug-drug interactions must also factor into decisions regarding the pharmacologic treatment of AD.

  15. ISCHEMIA in chronic kidney disease: improving the representation of patients with chronic kidney disease in cardiovascular trials.

    PubMed

    Wyatt, Christina M; Shineski, Matthew; Chertow, Glenn M; Bangalore, Sripal

    2016-06-01

    Despite the high cardiovascular risk associated with chronic kidney disease, a recent systematic review confirmed that patients with kidney disease remain underrepresented in cardiovascular trials. Two ongoing trials are assessing the risk:benefit of aggressive evaluation and intervention for ischemic heart disease in patients with advanced chronic kidney disease.

  16. Vibration-induced elastic deformation of Fabry-Perot cavities

    SciTech Connect

    Chen Lisheng; Hall, John L.; Ye Jun; Yang Tao; Zang Erjun; Li Tianchu

    2006-11-15

    We perform a detailed numerical analysis of Fabry-Perot cavities used for state-of-the-art laser stabilization. Elastic deformation of Fabry-Perot cavities with various shapes and mounting methods is quantitatively analyzed using finite-element analysis. We show that with a suitable choice of mounting schemes it is feasible to minimize the susceptibility of the resonator length to vibrational perturbations. This investigation offers detailed information on stable optical cavities that may benefit the development of ultrastable optical local oscillators in optical atomic clocks and precision measurements probing the fundamental laws of physics.

  17. Sapphire-fiber-based intrinsic Fabry-Perot interferometer

    NASA Technical Reports Server (NTRS)

    Wang, Anbo; Gollapudi, Sridhar; Murphy, Kent A.; May, Russell G.; Claus, Richard O.

    1992-01-01

    A sapphire optical fiber intrinsic Fabry-Perot interferometric sensor is demonstrated. A length of multimode sapphire fiber that functions as a Fabry-Perot cavity is spliced to a silica single-mode fiber. The interferometric signals of this sensor are produced by the interference between the reflection from the silica-sapphire fiber splice and the reflection from the free end face of the sapphire fiber. This sensor has been demonstrated for temperature measurement. A resolution of 0.2 C has been obtained over a measurement range of 310 C to 976 C.

  18. Connective tissue diseases, arthritis require special patient counseling.

    PubMed

    Neinstein, L S; Katz, B

    1985-07-01

    Systemic lupus erythematous occurs most frequently in reproductive aged women, giving rise to concern about contraception and pregnancy. Most of the literature on contraceptive choices for patients with connective tissue diseases specifically considers oral contraceptives (OCs) with systemic lupus. A possible role of female sex hormones in systemic lupus disease activity is suggested by the constant female-male disease ratio of 9 to 1, the tendency for increased disease activity premenstrually and postpartum, and the report of a 54% prevalence of clinical or serological exacerbation during pregnancy compared with a 4% prevalence in the 6 months preceding pregnancy. Another study however failed to confirm increased prevalence of major nonrenal manifestations of systemic lupus with pregnancy, and the results of 3 studies showed permanent deterioration in 15 of 114 pregnancies. In most cases, therefore, renal function did not deteriorate with pregnancy. The effect of OCs on lupus patients is also unclear despite several reports of exacerbation of lupus by OCs or induction of serologic markers. Studies of women attending family planning clinics do not indicate either developing rheumatologic symptoms or developing positive serologic tests in healthy women on OCs. IUDs should be avoided in lupus patients with moderate or severe anemia or thrombocytopenia, and the possible decreased effectiveness of IUDs for patients on steroids should be considered. Lupus patients should avoid pregnancy until the disease is in clinical remission. Combined OCs should probably be avoided because of the possible exacerbation of symptoms in known lupus. The progestagen-only pill can be considered for lupus patients without renal or liver disease or hypertension if the patient is closely watched. Barrier methods are possible for patients who are reliable and will comply with directions. No absolute contraindications appear to exist for women with rheumatoid arthritis. Women using OCs are

  19. Opioid Drugs in Patients With Liver Disease: A Systematic Review

    PubMed Central

    Soleimanpour, Hassan; Safari, Saeid; Shahsavari Nia, Kavous; Sanaie, Sarvin; Alavian, Seyed Moayed

    2016-01-01

    Context The liver, one of the most important organs of the body, is known to be responsible for several functions. The functional contribution of the liver to the metabolism of carbohydrates, protein, drugs and toxins, fats and cholesterol and many other biological processes are still unknown. Liver disorders are classified into two types: acute and chronic. Different drugs are used in liver diseases to treat and control pain. Most pain relief medications such as opioids are metabolized via the liver; therefore, the adverse reactions of drugs are probably higher for patients with liver disease. The current study aimed to evaluate the effects of opioid drugs on patients with liver disease; therefore, it is necessary to select suitable opioids for such patients. Evidence Acquisition This review was written by referring to research literature including 70 articles and four textbooks published from 1958 to 2015 on various reputable sites. Searches were carried out on the key phrases of narcotic pain relievers (opioids), acute and chronic hepatic failure, opioid adverse drug reactions, drug-induced liver injury (DILI) and other similar keywords. References included a variety of research papers (descriptive and analytical), intervention and review articles. Results In patients with liver disease, administration of opioid analgesics should be observed, accurately. As a general rule, lower doses of drugs should be administered at regular intervals based on the signs of drug accumulation. Secondly, the interactions of opioid drugs with different levels of substrates of the P450 cytochrome enzyme should be considered. Conclusions Pain management in patients with liver dysfunction is always challenging to physicians because of the adverse reactions of drugs, especially opioids. Opioids should be used cautiously since they can cause sedation, constipation and sudden encephalopathy effects. Since the clearance of these drugs in patients with hepatic insufficiency is decreased

  20. Prognosis of patients with carcinoid heart disease after valvular surgery.

    PubMed

    Manoly, Imthiaz; McAnelly, Sarah-Louise; Sriskandarajah, Sanjeevan; McLaughlin, Kenneth Edward

    2014-08-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. We addressed the following question: in patients who are diagnosed with carcinoid heart disease (CHD), do valvular surgeries improve their prognosis? Fifty percent of the patients with clinically diagnosed carcinoid syndrome had cardiac involvement which was present either as valvular dysfunction or as cardiac metastases. These patients often require surgery due to their heightened risk of cardiac disease. Altogether 217 relevant papers were identified as a result of the below-mentioned search, of which 10 papers represented the best evidence to answer the question. The author, journal, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses were tabulated. Of the patients who were identified to have carcinoid heart disease in different studies, 193 patients had valve procedure, mainly replacements at tricuspid, mitral and aortic valve positions and either valvuloplasty or replacement at pulmonary valve. Tricuspid and pulmonary valves represented the majority of the excised valves among patients undergoing valvular surgery for CHD. The pathology of carcinoid valve was attributed to the presence of plaque, causing thickening and retraction. Pure regurgitation was the most common finding in all the valves except pulmonary valve which had both stenosis and insufficiency. Thirty-day mortality was 17% (range 1-63%) and long-term survivors were reported to be alive at an average of 58 months (28-80 months) after the valve surgery. The evidence demonstrates that surgical intervention can lead to improved prognosis and reduce the symptoms of heart failure. Postoperative mortality was mainly due to the carcinoid disease itself and not as a complication of the surgery. Therefore, surgery could be considered for symptomatic palliation in carefully selected individuals.

  1. Personal Health Records for Patients with Chronic Disease

    PubMed Central

    Rozenblum, R.; Park, A.; Dunn, M.; Bates, D.W.

    2014-01-01

    Summary Background Personal health records (PHRs) connected to a physician’s electronic health record system hold substantial promise for supporting and engaging patients with chronic disease. Objectives: To explore how U.S. health care organizations are currently utilizing PHRs for chronic disease populations. Methods A mixed methods study including semi-structured interviews and a questionnaire was conducted. A purposive sample was developed of health care organizations which were recognized as exemplars for PHRs and were high performers in national patient satisfaction surveys (H-CAHPS or CAHPS). Within each organization, participants were health IT leaders or those managing high-risk or chronic disease populations. Results Interviews were conducted with 30 informants and completed questionnaires were received from 16 organizations (84% response rate). Most PHRs allowed patients to access health records and educational material, message their provider, renew prescriptions and request appointments. Patient generated data was increasingly being sought and combined with messaging, resulted in greater understanding of patient health and functioning outside of the clinic visit. However for chronic disease populations, there was little targeted involvement in PHR design and few tools to help interpret and manage their conditions beyond those offered for all. The PHR was largely uncoupled from high risk population management interventions and no clear framework for future PHR development emerged. Conclusion This technology is currently underutilized and represents a major opportunity given the potential benefits of patient engagement and shared decision making. A coherent patient-centric PHR design and evaluation strategy is required to realize its potential and maximize this natural hub for multidisciplinary care co-ordination. PMID:25024758

  2. Patient access to complex chronic disease records on the Internet

    PubMed Central

    2012-01-01

    Background Access to medical records on the Internet has been reported to be acceptable and popular with patients, although most published evaluations have been of primary care or office-based practice. We tested the feasibility and acceptability of making unscreened results and data from a complex chronic disease pathway (renal medicine) available to patients over the Internet in a project involving more than half of renal units in the UK. Methods Content and presentation of the Renal PatientView (RPV) system was developed with patient groups. It was designed to receive information from multiple local information systems and to require minimal extra work in units. After piloting in 4 centres in 2005 it was made available more widely. Opinions were sought from both patients who enrolled and from those who did not in a paper survey, and from staff in an electronic survey. Anonymous data on enrolments and usage were extracted from the webserver. Results By mid 2011 over 17,000 patients from 47 of the 75 renal units in the UK had registered. Users had a wide age range (<10 to >90 yrs) but were younger and had more years of education than non-users. They were enthusiastic about the concept, found it easy to use, and 80% felt it gave them a better understanding of their disease. The most common reason for not enrolling was being unaware of the system. A minority of patients had security concerns, and these were reduced after enrolling. Staff responses were also strongly positive. They reported that it aided patient concordance and disease management, and increased the quality of consultations with a neutral effect on consultation length. Neither patient nor staff responses suggested that RPV led to an overall increase in patient anxiety or to an increased burden on renal units beyond the time required to enrol each patient. Conclusions Patient Internet access to secondary care records concerning a complex chronic disease is feasible and popular, providing an increased

  3. Epidemiology of acute infections among patients with chronic kidney disease.

    PubMed

    Dalrymple, Lorien S; Go, Alan S

    2008-09-01

    The objectives of this review were (1) to review recent literature on the rates, risk factors, and outcomes of infections in patients who had chronic kidney disease (CKD) and did or did not require renal replacement therapy; (2) to review literature on the efficacy and use of selected vaccines for patients with CKD; and (3) to outline a research framework for examining key issues regarding infections in patients with CKD. Infection-related hospitalizations contribute substantially to excess morbidity and mortality in patients with ESRD, and infection is the second leading cause of death in this population. Patients who have CKD and do not require renal replacement therapy seem to be at higher risk for infection compared with patients without CKD; however, data about patients who have CKD and do not require dialysis therapy are very limited. Numerous factors potentially predispose patients with CKD to infection: advanced age, presence of coexisting illnesses, vaccine hyporesponsiveness, immunosuppressive therapy, uremia, dialysis access, and the dialysis procedure. Targeted vaccination seems to have variable efficacy in the setting of CKD and is generally underused in this population. In conclusion, infection is a primary issue when caring for patients who receive maintenance dialysis. Very limited data exist about the rates, risk factors, and outcomes of infection in patients who have CKD and do not require dialysis. Future research is needed to delineate accurately the epidemiology of infections in these populations and to develop effective preventive strategies across the spectrum of CKD severity. PMID:18650409

  4. Factors Influencing Smoking Cessation in Patients with Coronary Artery Disease.

    ERIC Educational Resources Information Center

    McKenna, Kryss; Higgins, Helen

    1997-01-01

    Ten sociodemographic, clinical, and psychological characteristics considered predictors of difficulty with smoking cessation in patients with coronary artery disease are reviewed. The compounding effects of nicotine addiction are discussed. Consideration of these factors may result in individualized programs for smoking cessation. A brief overview…

  5. Support Group Counseling for Caregivers of Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Hinkle, J. Scott

    1991-01-01

    Describes Alzheimer's disease and the burdens that caregivers encounter in dealing with Alzheimer's patients. Presents information concerning support group counseling for caregivers, their particular needs, and special family issues. Emphasizes that relationships between caregivers and support group counselors are crucial to successful…

  6. Ocular disease in patients with ANCA-positive vasculitis

    PubMed Central

    Watkins, Angela S.; Kempen, John H.; Choi, Dongseok; Liesegang, Teresa L.; Pujari, S. S.; Newcomb, Craig; Nussenblatt, Robert B.; Rosenbaum, James T.; Thorne, Jennifer E.; Foster, C. Stephen; Jabs, Douglas A.; Levy-Clarke, Grace A.; Suhler, Eric B.

    2009-01-01

    Anti-neutrophil cytoplasmic antibody (ANCA)-positive vasculitis—the term recently applied to Wegener's granulomatosis—is a rare multi-system inflammation characterized by necrotizing granulomas and vasculitis. We investigated the ocular manifestations of this disease in a group of patients drawn from five inflammatory eye disease clinics across the United States. Of 8,562 persons with ocular inflammation, 59 individuals were diagnosed with ANCA-positive vasculitis; 35 males and 21 females, aged 16 to 96 years, were included in this study. Ocular diagnoses were scleritis (75.0%), uveitis (17.9%), and other ocular inflammatory conditions (33.9%) including peripheral ulcerative keratitis and orbital pseudotumor. Mean duration of ocular disease was 4.6 years. Oral corticosteroids and other systemic immunosuppressive agents were used by 85.7% and 78.5% of patients, respectively. Over time, patients with ANCA-positive vasculitis experienced 2.75-fold higher mortality than other patients with inflammatory eye disease. PMID:20835396

  7. Semantic Priming for Coordinate Distant Concepts in Alzheimer's Disease Patients

    ERIC Educational Resources Information Center

    Perri, R.; Zannino, G. D.; Caltagirone, C.; Carlesimo, G. A.

    2011-01-01

    Semantic priming paradigms have been used to investigate semantic knowledge in patients with Alzheimer's disease (AD). While priming effects produced by prime-target pairs with associative relatedness reflect processes at both lexical and semantic levels, priming effects produced by words that are semantically related but not associated should…

  8. Investigation of Anxiety and Depression in Patients with Chronic Diseases

    PubMed Central

    Gerontoukou, Evangelia-Ioanna; Michaelidoy, Sofia; Rekleiti, Maria; Saridi, Maria; Souliotis, Kyriakos

    2015-01-01

    The health of an individual depends on both his/her physical and psychological condition. In recent years it has been observed that chronic patients have frequently an affected psycho-emotional state. The purpose of this study is to investigate anxiety and depression in patients with chronic diseases and the correlation of the results with daily physical activity levels and individual health levels, as well comorbidity. This study included patients with chronic diseases that were treated in a local general hospital or were visiting often outpatient clinics of the same hospital due to their condition. The sample in this particular study included 204 patients; 118 of them were women and 86 men. From the total sample that participated in our research, 118 (57.8%) were females and the majority of the participants were secondary/basic education graduates (67%), married (71%), living in urban areas (53%). Hypertension was the most frequent chronic disease in our sample, followed by hypercholesterolemia and diabetes mellitus. Comparing the occurrence of depression and anxiety symptoms in both questionnaires in relation to the expected frequency in the general population, significant levels of depression and anxiety symptoms were recorded. Taking into consideration the findings of this research, anxiety and depression symptoms can have profound effects regarding the control of chronic diseases, the patients’ quality of life and their general health. PMID:26973961

  9. Ofuji's disease in an immunocompetent patient successfully treated with dapsone

    PubMed Central

    Anjaneyan, Gopikrishnan; Manne, Sindhura; Panicker, Vinitha Varghese; Eapen, Malini

    2016-01-01

    Eosinophilic pustular folliculitis or Ofuji's disease is a non-infectious eosinophilic infiltration of hair follicles, which usually presents with itchy papules and pustules in a circinate configuration. We report this case of an immunocompetent patient with erythematous papules and plaques without macropustules diagnosed as eosinophilic pustular folliculitis—a rarely reported entity outside Japan. He was successfully treated with oral dapsone. PMID:27730038

  10. Assessing Impact on Family Caregivers to Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Talkington-Boyer, Shannon; Snyder, Douglas K.

    1994-01-01

    Examined impact of caregiving among 110 caregivers to aging family member with Alzheimer's disease. Family caregivers' appraisals along dimensions of subjective burden, negative impact, caregiving satisfaction, and caregiver mastery were correlated with extent of memory and behavior problems of patient and caregivers' coping style, locus of…

  11. Acute arthropathy in patients with rash diseases: a comparative study.

    PubMed

    de Oliveira, Solange Artimos; Bastos Camacho, Luiz Antonio; Fernandes Bruno, Letícia; de Gusmão, Rodrigo Coimbra; de Medeiros Pereira, Antonio Carlos; Coca Velarde, Luis Guillermo; Mendonça Siqueira, Marilda

    2009-09-01

    The aim of this study was to assess the association of acute arthropathy and selected clinical features in patients with acute rash diseases. Serum samples from 1,554 patients were tested for anti-measles, dengue, human parvovirus B19, and rubella virus IgM using enzyme immunoassay. Sera from children, in whom these infections were excluded, were studied for anti-human herpesvirus type 6 IgG antibodies using an indirect immunofluorescence test. Joint complaints occurred in 31.2% of the 862 patients with an etiologic diagnosis and were more frequently seen in adults than in children (OR 8.5). Among the adults, arthropathy prevailed in women compared to men (OR 1.8). Arthropathy was most frequently reported in rubella (41.2%) and in dengue fever cases (41.1%) than in the other rash diseases studied (p < 0.0001). Joint complaints were more frequently seen in patients with fever (OR 1.6) and with five or more days of onset of the disease (OR 1.6), regardless of serological diagnosis. Arthropathy appeared as a frequent condition in rash diseases, typically with low severity and no specific pattern of joint involvement.

  12. Sexual Concerns of Male Spouses of Female Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Litz, Brett T.; And Others

    1990-01-01

    Presents case study which highlights attendant cognitive changes that occur in Alzheimer's patient, presenting caregiver with challenges to couple's sexual functioning. Describes man who reported erectile dysfunction directly stemming from stressful changes that had occurred in his relationship to his wife who had Alzheimer's disease. General…

  13. Effects of statin treatment in patients with coronary artery disease and chronic kidney disease.

    PubMed

    Kaneko, Hidehiro; Yajima, Junji; Oikawa, Yuji; Tanaka, Shingo; Fukamachi, Daisuke; Suzuki, Shinya; Sagara, Koichi; Otsuka, Takayuki; Matsuno, Shunsuke; Funada, Ryuichi; Kano, Hiroto; Uejima, Tokuhisa; Koike, Akira; Nagashima, Kazuyuki; Kirigaya, Hajime; Sawada, Hitoshi; Aizawa, Tadanori; Yamashita, Takeshi

    2014-01-01

    Statins reduce cardiovascular morbidity and mortality from coronary artery disease (CAD). However, the effects of statin therapy in patients with CAD and chronic kidney disease (CKD) remain unclear. Within a single hospital-based cohort in the Shinken Database 2004-2010 comprising all patients (n = 15,227) who visited the Cardiovascular Institute, we followed patients with CKD and CAD after percutaneous coronary intervention (PCI). A major adverse cardiovascular and cerebrovascular event (MACCE) was defined by composite end points, including death, myocardial infarction, cerebral infarction, cerebral hemorrhage, and target lesion revascularization. A total of 391 patients were included in this study (median follow-up time 905 ± 679 days). Of these, 209 patients used statins. Patients with statin therapy were younger than those without. Obesity and dyslipidemia were more common, and the glomerular filtration rate (GFR) was significantly higher, in patients undergoing statin treatment. MACCE and cardiac death tended to be less common, and all-cause death was significantly less common, in patients taking statins. Multivariate analysis showed that low estimated GFR, poor left ventricular ejection fraction, and the absence of statin therapy were independent predictors for all-cause death of CKD patients after PCI. Statin therapy was associated with reduced all-cause mortality in patients with CKD and CAD after PCI.

  14. Strategies for reducing the risk of cardiovascular disease in patients with chronic obstructive pulmonary disease.

    PubMed

    Ferri, Claudio

    2015-06-01

    Chronic obstructive pulmonary disease (COPD) is frequently accompanied by multimorbidities in affected patients. Even though the majority of these comorbidities are also related to advanced age and cigarette smoke, also COPD itself has significant impact on insurgence, or worsening of these conditions. As a consequence, COPD is regarded as a complex disease with pulmonary and extra-pulmonary involvement. According to current guidelines for the management of COPD patients, the comprehensive treatment of this condition should target respiratory symptoms as well as comorbidities. Cardiovascular disease is one of the most frequent comorbidities in COPD patients and there are several strategies for reducing the risk of cardiovascular disease in COPD patients. These include smoking cessation, pharmacologic prevention of cardiovascular disease, and the treatment of COPD. Beta-blockers for the prevention of cardiovascular disease have been traditionally limited in COPD patients, albeit current evidence supporting their efficacy and safety in these patients. With regard to COPD medications, corticosteroids are generally not recommended, except for exacerbations, while long-acting beta2-agonists have demonstrated an acceptable profile of cardiovascular safety. Long-acting anticholinergic bronchodilators, in particular tiotropium in the mist inhaler formulation, have been associated with an increased risk of major cardiovascular events and mortality. Data on this issue remain, however, controversial. Glycopyrronium, a recently introduced anticholinergic, demonstrated. a rapid and sustained relief of respiratory symptoms with a favorable safety profile and no increase in cardiovascular risk, in monotherapy and in combination with a long-acting beta2-agonist in a comprehensive trial program indicating a valid option for COPD patients with CV comorbidities.

  15. Nutritional supplementation in patients with chronic obstructive pulmonary disease.

    PubMed

    Hsieh, Meng-Jer; Yang, Tsung-Ming; Tsai, Ying-Huang

    2016-08-01

    Malnutrition in patients with chronic obstructive pulmonary disease (COPD) is associated with cachexia, sarcopenia, and weight loss, and may result in poorer pulmonary function, decreased exercise capacity, and increased risk of exacerbations. Providing nutritional supplementation is an important therapeutic intervention, particularly for severely ill COPD patients with malnutrition. Higher calorie intake through nutritional supplementation significantly increases body weight and muscle strength, and improves quality of life in malnourished COPD patients. Difficulties may be experienced by these COPD patients, who are struggling to breathe and eliminate CO2 from the lungs, resulting in dyspnea, hypercapnia, hypoxia, and respiratory acidosis, which exacerbates muscle loss through oxidative stress and inflammatory responses. To overcome these problems, nutritional supplements should aim to reduce metabolic CO2 production, lower respiratory quotient, and improve lung function. Several studies have shown that high-fat supplements produce less CO2 and have lower respiratory quotient value than high-carbohydrate supplements. In addition, high-fat supplements may be the most efficient means of providing a low-volume, calorie-dense supplement to COPD patients, and may be most beneficial to patients with prolonged mechanical ventilation where hypercapnia and malnutrition are most pronounced. Further studies are required to investigate the optimal nutritional supplements for COPD patients according to their disease severity. PMID:26822811

  16. [Tuberculous sacroiliitis in a patient with Gaucher disease].

    PubMed

    Lukina, E A; Mamonov, V E; Lukina, K A; Khomenko, V A; Pisetskiĭ, M M; Iatsyk, G A

    2013-01-01

    Gaucher disease (GD) is an inherited enzymatic defect resulting from a deficiency of acid [3-glucosidase, a lysosomal enzyme involved in the degradation of cell metabolic products. The major clinical manifestations of GD are hepatosplenomegaly, cytopenia, and bony involvement varying from asymptomatic osteopenia to severest osteoporosis and ischemic necrosis to develop irreversible orthopedic defects. Timely enzyme replacement therapy with recombinant glucosidase makes it possible to arrest disease progression and to prevent damage to the vital organs. However, GD in adult patients is frequently diagnosed in the presence of occurring osteoarticular lesions (arthrosis deformans, abnormal fractures). In these instances, besides enzyme replacement therapy, high-quality orthopedic care is required. The description of the case history of a patient undergoing splenectomy in childhood is given as a clinical example of severe osteoarticular lesion in GD and complex differential diagnosis with the intercurrent disease extrapulmonary tuberculosis. PMID:24137954

  17. Patient Identified Disease Burden in Facioscapulohumeral Muscular Dystrophy

    PubMed Central

    Johnson, Nicholas E; Quinn, Christine; Eastwood, Eileen; Tawil, Rabi; Heatwole, Chad R

    2013-01-01

    Introduction The multitude of symptoms associated with facioscapulohumeral muscular dystrophy (FSHD) disease burden are of varying importance. The extent of these symptoms and their cumulative effect on the FSHD population is unknown. Methods We conducted interviews with adult FSHD patients to identify which symptoms have the greatest effect on their lives. Each interview was recorded, transcribed, coded, and analyzed using a qualitative framework technique, triangulation, and 3-investigator consensus approach. Results 1375 quotes were obtained through 20 patient interviews. 251 symptoms of importance were identified representing 14 themes of FSHD disease burden. Symptoms associated with mobility impairment, activity limitation, and social role limitation were most frequently mentioned by participants. Conclusions There are multiple themes and symptoms, some previously under-recognized, that play a key role in FSHD disease burden. PMID:23225386

  18. Investigation of saliva of patients with periodontal disease using NAA

    NASA Astrophysics Data System (ADS)

    Zamboni, C. B.; Metairon, S.; Medeiros, I. M. M. A.; Lewgoy, H. R.

    2013-05-01

    In this study the non-stimulated whole saliva of 26 healthy subjects (mean age 33.9 ± 11.0 years, range: 26 to 49 years) and 11 patients with periodontal disease (mean age 41.7 ± 11.5 years; range 29 to 55 years) was investigated using Neutron Activation Analysis (NAA) technique. The samples were obtained from donors at São Paulo city (Brazil). The analyses were performed in the nuclear reactor IEA-R1 (3.5-4.5MW, pool type) at IPEN/CNEN-SP (Brazil). Considerable changes in Ca and S saliva's level were identified in patients with periodontal disease suggesting they can be used as monitors of periodontal diseases.

  19. Investigation of saliva of patients with periodontal disease using NAA

    SciTech Connect

    Zamboni, C. B.; Metairon, S.; Medeiros, I. M. M. A.

    2013-05-06

    In this study the non-stimulated whole saliva of 26 healthy subjects (mean age 33.9 {+-} 11.0 years, range: 26 to 49 years) and 11 patients with periodontal disease (mean age 41.7 {+-} 11.5 years; range 29 to 55 years) was investigated using Neutron Activation Analysis (NAA) technique. The samples were obtained from donors at Sao Paulo city (Brazil). The analyses were performed in the nuclear reactor IEA-R1 (3.5-4.5MW, pool type) at IPEN/CNEN-SP (Brazil). Considerable changes in Ca and S saliva's level were identified in patients with periodontal disease suggesting they can be used as monitors of periodontal diseases.

  20. Are patients with Parkinson's disease blind to blindsight?

    PubMed

    Diederich, Nico J; Stebbins, Glenn; Schiltz, Christine; Goetz, Christopher G

    2014-06-01

    In Parkinson's disease, visual dysfunction is prominent. Visual hallucinations can be a major hallmark of late stage disease, but numerous visual deficits also occur in early stage Parkinson's disease. Specific retinopathy, deficits in the primary visual pathway and the secondary ventral and dorsal pathways, as well as dysfunction of the attention pathways have all been posited as causes of hallucinations in Parkinson's disease. We present data from patients with Parkinson's disease that contrast with a known neuro-ophthalmological syndrome, termed 'blindsight'. In this syndrome, there is an absence of conscious object identification, but preserved 'guess' of the location of a stimulus, preserved reflexive saccades and motion perception and preserved autonomical and expressive reactions to negative emotional facial expressions. We propose that patients with Parkinson's disease have the converse of blindsight, being 'blind to blindsight'. As such they preserve conscious vision, but show erroneous 'guess' localization of visual stimuli, poor saccades and motion perception, and poor emotional face perception with blunted autonomic reaction. Although a large data set on these deficits in Parkinson's disease has been accumulated, consolidation into one specific syndrome has not been proposed. Focusing on neuropathological and physiological data from two phylogenetically old and subconscious pathways, the retino-colliculo-thalamo-amygdala and the retino-geniculo-extrastriate pathways, we propose that aberrant function of these systems, including pathologically inhibited superior colliculus activity, deficient corollary discharges to the frontal eye fields, dysfunctional pulvinar, claustrum and amygdaloid subnuclei of the amygdala, the latter progressively burdened with Lewy bodies, underlie this syndrome. These network impairments are further corroborated by the concept of the 'silent amygdala'. Functionally being 'blind to blindsight' may facilitate the highly

  1. Urinary Stone Disease: Advancing Knowledge, Patient Care, and Population Health.

    PubMed

    Scales, Charles D; Tasian, Gregory E; Schwaderer, Andrew L; Goldfarb, David S; Star, Robert A; Kirkali, Ziya

    2016-07-01

    Expanding epidemiologic and physiologic data suggest that urinary stone disease is best conceptualized as a chronic metabolic condition punctuated by symptomatic, preventable stone events. These acute events herald substantial future chronic morbidity, including decreased bone mineral density, cardiovascular disease, and CKD. Urinary stone disease imposes a large and growing public health burden. In the United States, 1 in 11 individuals will experience a urinary stone in their lifetime. Given this high incidence and prevalence, urinary stone disease is one of the most expensive urologic conditions, with health care charges exceeding $10 billion annually. Patient care focuses on management of symptomatic stones rather than prevention; after three decades of innovation, procedural interventions are almost exclusively minimally invasive or noninvasive, and mortality is rare. Despite these advances, the prevalence of stone disease has nearly doubled over the past 15 years, likely secondary to dietary and health trends. The NIDDK recently convened a symposium to assess knowledge and treatment gaps to inform future urinary stone disease research. Reducing the public health burden of urinary stone disease will require key advances in understanding environmental, genetic, and other individual disease determinants; improving secondary prevention; and optimal population health strategies in an increasingly cost-conscious care environment. PMID:26964844

  2. Use of electrocochleography for assessing endolymphatic hydrops in patients with Lyme disease and Ménière's disease.

    PubMed

    Selmani, Ziane; Pyykkö, Ilmari; Ishizaki, Hisayoshi; Ashammakhi, Nureddin

    2002-03-01

    From an otological standpoint, Lyme disease can manifest itself as Ménière's disease both clinically and electrophysiologically. The aim of this study was to describe the findings of routine clinical, auditory and vestibular tests in patients with Ménière's and Lyme disease and to use electrocochleography (ECoG) to assess the presence of endolymphatic hydrops (EH) in both diseases. Transtympanic ECoG was performed in 91 patients with Ménière's disease and in 11 patients with confirmed Lyme disease. In both diseases the majority of patients had more than one complaint. There was one case with isolated hearing loss in the Lyme disease group. Typical clinical manifestations of Ménière's disease (vertigo, sensorineural hearing loss and tinnitus) were found in 6/11 patients (54.5%) in the Lyme disease group. The ECoG results indicated that there were 65/91 patients (71.4%) with Ménière's disease and 5 patients (45.5%) with Lyme disease who presented with EH. No statistically significant difference was found between the incidence of different symptoms of Ménière's and Lyme disease. On the basis of these results, patients with Lyme disease should undergo careful examination and investigation, especially in endemic regions. The presence of EH does not exclude the presence of infection with borreliosis as a cause of Ménière's disease-like symptoms.

  3. Treatment of Anemia in Patients with Heart Disease: A Clinical Practice Guideline

    MedlinePlus

    ... of Internal Medicine Summaries for Patients Treatment of Anemia in Patients With Heart Disease: A Clinical Practice ... Physicians The full report is titled “Treatment of Anemia in Patients With Heart Disease: A Clinical Practice ...

  4. Pain management in patients with chronic kidney disease

    PubMed Central

    Pham, Phuong-Chi T.; Toscano, Edgar; Pham, Phuong-Mai T.; Pham, Phuong-Anh T.; Pham, Son V.; Pham, Phuong-Thu T.

    2009-01-01

    Pain has been reported to be a common problem in the general population and end-stage renal disease (ESRD) patients. Although similar data for pre-ESRD patients are lacking, we recently reported that the prevalence of pain is also very high (>70%) among pre-ESRD patients at a Los Angeles County tertiary referral centre. The high prevalence of pain in the CKD population is particularly concerning because pain has been shown to be associated with poor quality of life. Of greater concern, poor quality of life, at least in dialysis patients, has been shown to be associated with poor survival. We herein discuss the pathophysiology of common pain conditions, review a commonly accepted approach to the management of pain in the general population, and discuss analgesic-induced renal complications and therapeutic issues specific for patients with reduced renal function. PMID:25949305

  5. Myocardial ischemia during intravenous DSA in patients with cardiac disease

    SciTech Connect

    Hesselink, J.R.; Hayman, L.A.; Chung, K.J.; McGinnis, B.D.; Davis, K.R.; Taveras, J.M.

    1984-12-01

    A prospective study was performed for 48 patients who had histories of angina and were referred for digital subtraction angiography (DSA). Cardiac disease was graded according to the American Heart Association (AHA) functional classification system. Each patient received 2-5 injections of 40-ml diatrizoate meglumine and diatrizoate sodium at 15 ml per second in the superior vena cava. Of the 28 patients in functional Classes I or II, 11% had angina and 32% had definite ischemic ECG changes after the DSA injections. Of the patients in functional Class III 63% had angina, and 58% had definite ischemic ECG changes after the injections. These observed cardiac effects following bolus injections of hypertonic ionic contrast media indicate that special precautions are necessary when performing intravenous DSA examinations on this group of high risk patients.

  6. Uncontrolled chronic disease: patient non-compliance or clinical mismanagement?

    PubMed

    Javors, Jonathan R; Bramble, Judith E

    2003-01-01

    A study group of 30 individuals was randomly chosen from 1,379 beneficiaries predicted to be at risk for health care complications at a large, Midwest, industrial company currently experiencing increased health care costs. All 30 individuals had one or more chronic illness, primarily diabetes, cardiovascular disease, or asthma. Through analysis of medical records, a self-reporting health risk assessment survey, and personal contact with both patients and clinicians, each study individual was assessed as to whether his disease(s) was under control, the individual was compliant with his treatment protocol, and whether the supervising clinician was following nationally accepted standards of care. Fewer than 50% of the individuals in the study group had their chronic illness(es) under control. Those individuals whose treatment adhered to national guidelines were significantly more likely to have their disease under control (p < 0.001). For this study, patient compliance was high and unrelated to whether their disease was under control. Behavioral (external) barriers were most often cited as the reason a clinical practitioner did not follow the appropriate national standard of care. Most clinicians were aware of and familiar with the guidelines; a few either did not agree with or misunderstood the guidelines. The results of this study suggest that changing clinical practice behaviors to better ensure compliance to national standards of care may make a substantial difference in chronic disease control.

  7. Uncontrolled chronic disease: patient non-compliance or clinical mismanagement?

    PubMed

    Javors, Jonathan R; Bramble, Judith E

    2003-01-01

    A study group of 30 individuals was randomly chosen from 1,379 beneficiaries predicted to be at risk for health care complications at a large, Midwest, industrial company currently experiencing increased health care costs. All 30 individuals had one or more chronic illness, primarily diabetes, cardiovascular disease, or asthma. Through analysis of medical records, a self-reporting health risk assessment survey, and personal contact with both patients and clinicians, each study individual was assessed as to whether his disease(s) was under control, the individual was compliant with his treatment protocol, and whether the supervising clinician was following nationally accepted standards of care. Fewer than 50% of the individuals in the study group had their chronic illness(es) under control. Those individuals whose treatment adhered to national guidelines were significantly more likely to have their disease under control (p < 0.001). For this study, patient compliance was high and unrelated to whether their disease was under control. Behavioral (external) barriers were most often cited as the reason a clinical practitioner did not follow the appropriate national standard of care. Most clinicians were aware of and familiar with the guidelines; a few either did not agree with or misunderstood the guidelines. The results of this study suggest that changing clinical practice behaviors to better ensure compliance to national standards of care may make a substantial difference in chronic disease control. PMID:14570385

  8. Voluntary Imitation in Alzheimer’s Disease Patients

    PubMed Central

    Bisio, Ambra; Casteran, Matthieu; Ballay, Yves; Manckoundia, Patrick; Mourey, France; Pozzo, Thierry

    2016-01-01

    Although Alzheimer’s disease (AD) primarily manifests as cognitive deficits, the implicit sensorimotor processes that underlie social interactions, such as automatic imitation, seem to be preserved in mild and moderate stages of the disease, as is the ability to communicate with other persons. Nevertheless, when AD patients face more challenging tasks, which do not rely on automatic processes but on explicit voluntary mechanisms and require the patient to pay attention to external events, the cognitive deficits resulting from the disease might negatively affect patients’ behavior. The aim of the present study was to investigate whether voluntary motor imitation, i.e., a volitional mechanism that involves observing another person’s action and translating this perception into one’s own action, was affected in patients with AD. Further, we tested whether this ability was modulated by the nature of the observed stimulus by comparing the ability to reproduce the kinematic features of a human demonstrator with that of a computerized-stimulus. AD patients showed an intact ability to reproduce the velocity of the observed movements, particularly when the stimulus was a human agent. This result suggests that high-level cognitive processes involved in voluntary imitation might be preserved in mild and moderate stages of AD and that voluntary imitation abilities might benefit from the implicit interpersonal communication established between the patient and the human demonstrator. PMID:27014056

  9. Reactivity of neuroborreliosis patients (Lyme disease) to cardiolipin and gangliosides.

    PubMed

    García Moncó, J C; Wheeler, C M; Benach, J L; Furie, R A; Lukehart, S A; Stanek, G; Steere, A C

    1993-07-01

    A subset of patients (50%) with neuroborreliosis (Lyme disease) showed IgG reactivity to cardiolipin in solid phase ELISA. In addition, a subset of patients with neuroborreliosis (29%) and syphilis (59%) had IgM reactivity to gangliosides with a Gal(beta 1-3) GalNac terminal sequence (GM1, GD1b, and asialo GM1). Anti-ganglioside IgM antibodies were significantly more frequent in these two groups of patients compared to patients with cutaneous and articular Lyme disease, primary antiphospholipid syndrome, systemic lupus erythematosus and normal controls. Correlative evidence and adsorption experiments indicated that antibodies to cardiolipin had separate specificities from those directed against the gangliosides. IgM antibodies to Gal(beta 1-3) GalNac gangliosides appeared to have similar specificities since these were positively correlated and inhibitable by cross adsorption assays. Given the clinical associations of patients with neuroborreliosis and syphilis with IgM reactivity to gangliosides sharing the Gal(beta 1-3) GalNac terminus, we suggest that these antibodies could represent a response to injury in neurological disease or a cross reactive event caused by spirochetes.

  10. [Self-Management in Patients With Chronic Kidney Disease].

    PubMed

    Chiou, Chou-Ping; Lu, Yung-Chuan; Hung, Shih-Yuan

    2016-04-01

    Chronic kidney disease (CKD) patients typically self-manage their disease-care program. Self-management requires the investment of considerable time and energy in health management and in following the multifaceted CKD treatment regimen. CKD, a progressive disease, is classified into five stages that correspond to the five stages of decline in kidney function, as measured using the glomerular filtration rate (GRF). Each of these stages requires that a patient modify his / her lifestyle and shoulder the responsibility for day-to-day health management tasks. Key to promoting self-management is the partnership and collaboration between healthcare providers and patients. Tasks in this partnership include patient assessment and communication, regimen adherence, emotional management, negotiation of care plans, and the enhancement of self-efficacy, with the aims of creating positive changes in behavior, promoting correct symptoms interpretation and reporting, and promoting the appropriate use of resources. Nurses may help patients maneuver this initially frightening and sometimes difficult terrain with strategies that are tailored to each CKD stage.

  11. Social Media Use in Patients with Inflammatory Bowel Disease.

    PubMed

    Guo, Ling; Reich, Jason; Groshek, Jacob; Farraye, Francis A

    2016-05-01

    Patients with chronic illnesses such as Inflammatory Bowel Disease (IBD) have been more keen to utilize the Internet and in particular, social media to obtain patient educational information in recent years. It is important for the gastroenterologist to be aware of these modalities and how they might affect information exchange and ultimately, disease management. This article addresses the current prevalence of social media use, advent of mobile health applications, social media usage in patients with chronic conditions, usage amongst providers, and most notably, the usage and preferences in IBD patients. Over the last decade there has been an increasing desire from patients to receive educational material about their disease through social media. We reviewed the medical literature on the quality of IBD-related information on social media. Given the disparity of information available on the Internet, we remark on the quality of this information and stress the need for further research to assess the validity of IBD information posted on social media. PMID:26894839

  12. Review of gastroesophageal reflux disease (GERD) in the diabetic patient.

    PubMed

    Punjabi, Paawan; Hira, Angela; Prasad, Shanti; Wang, Xiangbing; Chokhavatia, Sita

    2015-09-01

    This article reviews the known pathophysiological mechanisms of comorbid gastroesophageal reflux disease (GERD) in the diabetic patient, discusses therapeutic options in care, and provides an approach to its evaluation and management. We searched for review articles published in the past 10 years through a PubMed search using the filters diabetes mellitus, GERD, pathophysiology, and management. The search only yielded a handful of articles, so we independently included relevant studies from these review articles along with related citations as suggested by PubMed. We found diabetic patients are more prone to developing GERD and may present with atypical manifestations. A number of mechanisms have been proposed to elucidate the connection between these two diseases. Studies involving treatment options for comorbid disease suggest conflicting drug-drug interactions. Currently, there are no published guidelines specifically for the evaluation and management of GERD in the diabetic patient. Although there are several proposed mechanisms for the higher prevalence of GERD in the diabetic patient, this complex interrelationship requires further research. Understanding the pathophysiology will help direct diagnostic evaluation. In our review, we propose a management algorithm for GERD in the diabetic patient.

  13. "Will I get Alzheimer disease?" when cognitively normal patients ask to be tested for Alzheimer disease.

    PubMed

    Snider, B Joy; Buckles, Virginia D

    2013-04-01

    This article presents the case of a cognitively normal patient who is requesting a procedure (amyloid imaging) recently approved for the diagnosis of Alzheimer disease (AD) in patients with cognitive impairment. The predictive value of this test in unaffected people is not clearly established. Knowing the results of the test will have no effect on therapeutic options, although the patient may make lifestyle decisions based on the results. There is potential risk to the patient in terms of insurability, employability, and psychological consequences. Physicians will face this situation with increasing frequency as the AD biomarker field progresses.

  14. [Features of dietary treatment in patients with coronary heart disease].

    PubMed

    RUS

    2015-01-01

    The present review summarizes the current data of dietary treatment in patients with coronary heart disease (CHD). Numerous studies have shown that the diet can affect the modifiable risk factors for CHD that is the basis of primary and secondary prevention of this disease. The main areas of personalization of nutrition is the selection of an adequate energy value, a certain quota of protein,fats and carbohydrates in the diet, as well as other micronutrients that may influence the development of coronary artery disease. Caloric restriction of the diet in overweight patients is the most important factor of weight loss, independent of macronutrient composition of the diet. Diets with higher dietary protein content increase the rate of weight loss and improve blood lipid profile, but have a short-term effect. Excessive consumption of saturated fatty acids is associated with increased risk of cardiovascular disease. As a result, numerous studies have shown that replacing saturated fats with mono- and polyunsaturated fatty acids have a beneficial effect on blood lipid profile in patients with coronary artery disease. Several studies have shown that increasing the glycemic load is accompanied by an elevated risk of CHD, especially in women. Personalized dietary treatment on the basis of the etiopathogenic mechanisms of CHD and with the individual characteristics of a particular patient (sex, age, heredity, nutritional status, physical activity) is becoming increasingly important. Personalization of the diet provides a positive effect on risk factors for coronary heart disease, on the quality of life and increases the effectiveness of diet-therapy.

  15. [Features of dietary treatment in patients with coronary heart disease].

    PubMed

    RUS

    2015-01-01

    The present review summarizes the current data of dietary treatment in patients with coronary heart disease (CHD). Numerous studies have shown that the diet can affect the modifiable risk factors for CHD that is the basis of primary and secondary prevention of this disease. The main areas of personalization of nutrition is the selection of an adequate energy value, a certain quota of protein,fats and carbohydrates in the diet, as well as other micronutrients that may influence the development of coronary artery disease. Caloric restriction of the diet in overweight patients is the most important factor of weight loss, independent of macronutrient composition of the diet. Diets with higher dietary protein content increase the rate of weight loss and improve blood lipid profile, but have a short-term effect. Excessive consumption of saturated fatty acids is associated with increased risk of cardiovascular disease. As a result, numerous studies have shown that replacing saturated fats with mono- and polyunsaturated fatty acids have a beneficial effect on blood lipid profile in patients with coronary artery disease. Several studies have shown that increasing the glycemic load is accompanied by an elevated risk of CHD, especially in women. Personalized dietary treatment on the basis of the etiopathogenic mechanisms of CHD and with the individual characteristics of a particular patient (sex, age, heredity, nutritional status, physical activity) is becoming increasingly important. Personalization of the diet provides a positive effect on risk factors for coronary heart disease, on the quality of life and increases the effectiveness of diet-therapy. PMID:26852529

  16. Non-motor symptoms in Chinese Parkinson's disease patients.

    PubMed

    Gan, Jing; Zhou, Mingzhu; Chen, Wei; Liu, Zhenguo

    2014-05-01

    This study was designed to survey the prevalence and distribution of non-motor symptoms (NMS) in Parkinson's disease (PD) patients in Shanghai, China, and to investigate the association between NMS and health-related quality of life (HRQoL). One hundred fifty-five PD patients were evaluated using the NMS Questionnaire 30 (NMSQuest), Unified Parkinson's Disease Rating Scale (UPDRS) and Parkinson's Disease Questionnaire-39 (PDQ-39). These data were compared with an international cross-sectional study, and the associations of motor and non-motor measures with HRQoL were estimated. Predictors of HRQoL were sought through multiple linear regression analyses. Each PD patient had eight different individual NMS on average. The problems of memory (65.82%), constipation (64.56%) and nocturia (61.39%) were the most frequent complaints. NMS prevalence in PD patients in Shanghai was consistent with that in the international study, although the composition proportions were different. There was a significant association of PDQ-39 score with NMSQuest score (rs=0.433, p=0.000), UPDRS III score (rs=0.473, p=0.000), Hoehn and Yahr (H-Y) stage (rs=0.567, p=0.000), disease duration (rs=0.220, p=0.005), and levodopa equivalent dosage (rs=0.263, p=0.001). H-Y stage (disease severity) and NMS score were the strongest predictors for PDQ-39 score. This study confirmed that NMS are common in PD, occurring across all disease stages and have a great impact on quality of life. NMS progression contributes significantly to HRQoL decline, and should be well recognized and treated.

  17. [Asymptomatic celiac disease in patient with chronic acalculous cholecystitis].

    PubMed

    Parfenov, A I; Dolgasheva, G M; Krums, L M; Bystrovskaia, E V; Sabel'nikova, E A; Gudkova, R B; Vorob'eva, N N; Lishchinskaia, A A

    2011-01-01

    We described a patient 40 years old, admitted to the clinic with periodic attacks of pain in the right upper quadrant. With ultrasound it was confirmed chronic acalculous cholecystitis, and at endoscopy and multiple biopsies revealed atrophy of the mucosa of the duodenum (DM), corresponding to celiac disease (stage III in the Marsh classification). Titer of antibodies to gliadin (AGA) and tissue transglutaminase (AtTG) were higher: 60 and 110 units/ml, respectively, at a rate of 10 units/ml. The patient was assigned a lifetime adherence to a gluten-free diet, serologic test and a control endoscopy with biopsy at 6 months. The important role of the doctor-endoscopist in the diagnosis of latent forms of celiac disease. The significance of DM atrophy in the pathogenesis of patients with chronic cholecystitis. PMID:21695960

  18. Clinical and genetic characteristics of Mexican Huntington's disease patients.

    PubMed

    Alonso, María Elisa; Ochoa, Adriana; Boll, Marie-Catherine; Sosa, Ana Luisa; Yescas, Petra; López, Marisol; Macias, Rosario; Familiar, Itziar; Rasmussen, Astrid

    2009-10-15

    We report the characteristics of 691 Mexican patients with Huntington's disease (HD). These patients, representing 401 families, constitute the largest series of Mexican HD cases as yet described in the literature. We found the clinical characteristics of these patients to be similar to those of other populations, but we observed a higher frequency of infantile cases, a shorter disease duration and a lower suicide rate. In 626 cases, for which molecular analyses were available, CAG-trinucleotide expansion size ranged from 37-106 repeats. The large number of CAG repeats (19.04 +/- 3.02) in normal alleles and the presence of new mutations suggest that the overall prevalence of HD in the Mexican population could be expected to be within range of, or higher than, that reported for Europeans.

  19. Cardiovascular disease risk profiles comparison among dialysis patients.

    PubMed

    Sharabas, Islam; Siddiqi, Nauman

    2016-01-01

    This study was performed to assess the cardiovascular disease (CVD) risk factors in the prevalent peritoneal dialysis (PD) and hemodialysis (HD) patients and their association with cardiovascular events (CVEs) in a Saudi end-stage renal disease cohort. This was a prospective, observational, single-center study. A total of 192 patients were screened of which 157 patients were eligible (HD = 121, PD = 36). All patients underwent assessment of cardiovascular risk factors at the time of enrollment including electrocardiogram and echocardiography, lipid profile, homocysteine, and insulin levels. Patients were followed for one year and CVE [acute myocardial infarction, cerebrovascular accident (CVA), and congestive heart failure] and mortality were recorded. SPSS ® Version 16 was used for the analysis. T-test and ANOVA were used for continuous data; categorical data were analyzed using Chi-square and Mann-Whitney tests. The primary end-point of CVE and all-cause mortality was compared in the two groups using Kaplan-Meier survival analysis. HD patients were older and had been longer on dialysis. While PD patients had higher urine output and better Kt/V values, they were more edematous and using more antihypertensive medications. PD patients also had a lower ejection fraction (EF). Age >57 years and the use of more than one antihypertensive medication were associated with higher risk of CVE, while EF >53 was found to be protective. Age >57 years and EF <53 at enrollment were predictive of all-cause mortality. Saudi patients undergoing PD have worse CVD risk profiles compared to HD patients. Age less than 57 years and an EF >53 were cardioprotective.

  20. Cardiovascular disease risk profiles comparison among dialysis patients.

    PubMed

    Sharabas, Islam; Siddiqi, Nauman

    2016-01-01

    This study was performed to assess the cardiovascular disease (CVD) risk factors in the prevalent peritoneal dialysis (PD) and hemodialysis (HD) patients and their association with cardiovascular events (CVEs) in a Saudi end-stage renal disease cohort. This was a prospective, observational, single-center study. A total of 192 patients were screened of which 157 patients were eligible (HD = 121, PD = 36). All patients underwent assessment of cardiovascular risk factors at the time of enrollment including electrocardiogram and echocardiography, lipid profile, homocysteine, and insulin levels. Patients were followed for one year and CVE [acute myocardial infarction, cerebrovascular accident (CVA), and congestive heart failure] and mortality were recorded. SPSS ® Version 16 was used for the analysis. T-test and ANOVA were used for continuous data; categorical data were analyzed using Chi-square and Mann-Whitney tests. The primary end-point of CVE and all-cause mortality was compared in the two groups using Kaplan-Meier survival analysis. HD patients were older and had been longer on dialysis. While PD patients had higher urine output and better Kt/V values, they were more edematous and using more antihypertensive medications. PD patients also had a lower ejection fraction (EF). Age >57 years and the use of more than one antihypertensive medication were associated with higher risk of CVE, while EF >53 was found to be protective. Age >57 years and EF <53 at enrollment were predictive of all-cause mortality. Saudi patients undergoing PD have worse CVD risk profiles compared to HD patients. Age less than 57 years and an EF >53 were cardioprotective. PMID:27424685

  1. Hypoalbuminaemia predicts outcome in adult patients with congenital heart disease

    PubMed Central

    Kempny, Aleksander; Diller, Gerhard-Paul; Alonso-Gonzalez, Rafael; Uebing, Anselm; Rafiq, Isma; Li, Wei; Swan, Lorna; Hooper, James; Donovan, Jackie; Wort, Stephen J; Gatzoulis, Michael A; Dimopoulos, Konstantinos

    2015-01-01

    Background In patients with acquired heart failure, hypoalbuminaemia is associated with increased risk of death. The prevalence of hypoproteinaemia and hypoalbuminaemia and their relation to outcome in adult patients with congenital heart disease (ACHD) remains, however, unknown. Methods Data on patients with ACHD who underwent blood testing in our centre within the last 14 years were collected. The relation between laboratory, clinical or demographic parameters at baseline and mortality was assessed using Cox proportional hazards regression analysis. Results A total of 2886 patients with ACHD were included. Mean age was 33.3 years (23.6–44.7) and 50.1% patients were men. Median plasma albumin concentration was 41.0 g/L (38.0–44.0), whereas hypoalbuminaemia (<35 g/L) was present in 13.9% of patients. The prevalence of hypoalbuminaemia was significantly higher in patients with great complexity ACHD (18.2%) compared with patients with moderate (11.3%) or simple ACHD lesions (12.1%, p<0.001). During a median follow-up of 5.7 years (3.3–9.6), 327 (11.3%) patients died. On univariable Cox regression analysis, hypoalbuminaemia was a strong predictor of outcome (HR 3.37, 95% CI 2.67 to 4.25, p<0.0001). On multivariable Cox regression, after adjusting for age, sodium and creatinine concentration, liver dysfunction, functional class and disease complexity, hypoalbuminaemia remained a significant predictor of death. Conclusions Hypoalbuminaemia is common in patients with ACHD and is associated with a threefold increased risk of risk of death. Hypoalbuminaemia, therefore, should be included in risk-stratification algorithms as it may assist management decisions and timing of interventions in the growing ACHD population. PMID:25736048

  2. Overuse of Computed Tomography in Patients with Complicated Gallstone Disease

    PubMed Central

    Benarroch-Gampel, Jaime; Boyd, Casey A.; Sheffield, Kristin M.; Townsend, Courtney M.; Riall, Taylor S.

    2012-01-01

    BACKGROUND When compared to ultrasound, computed tomography scans (CT) are more expensive, have significant radiation exposure, and have lower sensitivity, specificity, positive, and negative predictive values for patients with gallstone disease. METHODS We reviewed data on patients emergently admitted with complicated gallstone disease between 1/2005 and 5/2010. The use of CT and ultrasound imaging on admission was described. Multivariate logistic regression was used to evaluate factors predicting receipt of CT. RESULTS 562 consecutive patients presented emergently with complicated gallstone disease. The mean age was 45 years. 72% of patients were female, 46% were white, and 41% were Hispanic. 72% of patients had an ultrasound during the initial evaluation and 41% had a CT. Both studies were performed in 25% of patients (n=141), while 16% (n=93) had CT only and 47% (n=259) had ultrasound only. CT was performed first in 67% of those who underwent both studies. Evening imaging (7pm–7am; OR=4.44, 95% CI 2.88–6.85), increased age (OR=1.14 per 5-year increase, 95% CI 1.07–1.21), leukocytosis (OR=1.67, 95% CI 1.10–2.53), and hyperamylasemia (OR=2.02, 95% CI 1.16–3.51) predicted receipt of CT. CONCLUSIONS Our study demonstrates the overuse of CT in the evaluation of complicated gallstone disease. Evening imaging was the biggest predictor of CT use, suggesting that CT is performed not to clarify the diagnosis, but rather a surrogate for the indicated study. Surgeons and emergency physicians should be trained to perform right upper quadrant ultrasounds to avoid receipt of unnecessary studies in the appropriate clinical setting. PMID:21862355

  3. Patients' knowledge of risk and protective factors for cardiovascular disease.

    PubMed

    Wartak, Siddharth A; Friderici, Jennifer; Lotfi, Amir; Verma, Ashish; Kleppel, Reva; Naglieri-Prescod, Deborah; Rothberg, Michael B

    2011-05-15

    Coronary heart disease is the leading cause of death in the United States. The American Heart Association has proposed improving overall cardiovascular health by promoting 7 components of ideal cardiovascular health, including health behaviors (not smoking, regular exercise, and healthy diet) and health factors (ideal body mass index, cholesterol, blood pressure, and blood glucose). The patients' knowledge of these 7 components is unknown. We performed a cross-sectional survey of patients at 4 primary care and 1 cardiology clinic. The survey measured demographic data, personal behaviors/health factors, cardiovascular disease history, and knowledge about these 7 components. A multivariate model was developed to assess patient characteristics associated with high knowledge scores. Of the 2,200 surveys distributed, 1,702 (77%) were returned with sufficient responses for analysis. Of these, 49% correctly identified heart disease as the leading cause of death, and 37% (95% confidence interval [CI] 35% to 39%) correctly identified all 7 components. The average respondent identified 4.9 components (95% CI 4.7 to 5.0). The lowest recognition rates were for exercise (57%), fruit/vegetable consumption (58%), and diabetes (63%). In a multivariate model, knowledge of all 7 components was positively associated with high school education or greater (odds ratio 2.43, 95% CI 1.68 to 3.52) and white ethnicity (odds ratio 1.78, 95% CI 1.27 to 2.50), and negatively associated with attending an urban neighborhood clinic (odds ratio 0.60, 95% CI 0.44 to 0.82). In conclusion, just >1/3 of patients could identify all 7 components of ideal cardiovascular health. Educational efforts should target patients in low socioeconomic strata and focus on improving knowledge about healthy diet and regular exercise. Although patients with diabetes were more likely than those without diabetes to recognize their risk, 1 in 5 were not aware that diabetes is a risk factor for cardiovascular disease.

  4. Functional assessment staging (FAST) in Korean patients with Alzheimer's disease.

    PubMed

    Na, Hae-Ri; Kim, Sang-Yun; Chang, Young-Hee; Park, Moon-Ho; Cho, Sung-Tae; Han, Il-Woo; Kim, Tae-You; Hwang, Sul-A

    2010-01-01

    Functional Assessment Staging (FAST) was devised to meet the need for a more brief patient-derived rating scale for evaluating changes in functional performance and activities of daily living skills in all the stages of Alzheimer's disease (AD). FAST was administered to 464 patients with probable AD according to the National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) criteria. The patients were also evaluated using the Korean version of the Mini-Mental Status Examination (K-MMSE), the Clinical Dementia Rating (CDR), the Clinical Dementia Rating-Sum of Boxes (CDR-SB), the Global Deterioration Scale (GDS), the Barthel Activities of Daily Living (B-ADL), and the Seoul-Instrumental Activities of Daily Living (S-IADL). For patients with moderate to severe dementia, the Korean versions of the Severe Impairment Battery (SIB-Ko) and Baylor profound mental status examination (BPMSE-Ko) were also administered. There were significant correlations between the FAST and the K-MMSE scores (r= - 0.71, p< 0.001), between the FAST and the SIB-Ko scores (r= - 0.54, p< 0.001) and between the FAST and the BPMSE-Ko scores (r=- 0.46, p< 0.001). The FAST was also correlated with the CDR, the CDR-SB, the B-ADL, and the S-IADL (p< 0.001). Ultimately, FAST is a reliable and valid assessment technique for evaluating functional deterioration in AD patients throughout the disease course. Moreover, the findings of the present study suggest that the FAST elucidates a characteristic pattern of progressive, ordinal, and functional decline in AD in Korean AD patients with dementia. PMID:20847407

  5. Depression and major depressive disorder in patients with Parkinson's disease.

    PubMed

    Inoue, Takeshi; Kitagawa, Mayumi; Tanaka, Teruaki; Nakagawa, Shin; Koyama, Tsukasa

    2010-01-15

    The prevalence of depression in Parkinson's disease (PD) varies greatly. In this study, we investigated major depressive disorder (MDD) and depressive symptoms without MDD in patients with PD. The psychopathological characteristics of depressive symptoms were assessed by a psychiatric interview. A total of 105 Japanese patients with PD without dementia were included. The Japanese version of the Beck Depression Inventory-II (BDI-II) with a cutoff score of 13/14 was used to screen for depression. Using a structured interview, a comprehensive psychiatric evaluation of patients with BDI-II scores >13 (high BDI patients) was completed using the criteria of the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR. Forty patients (38%) had a BDI-II >13, but 29 did not show any depressed mood. Five cases met the criteria for MDD (three current, two past) and one patient was diagnosed with minor depressive disorder. A slight depressed mood that was associated with worrying about PD was seen in 6 of 34 patients without any depressive disorder and fluctuated with aggravation of PD symptoms in two of these patients. For the diagnosis of MDD, the number of positive items from the DSM-IV-TR definition of MDD is most important and useful for differentiating MDD and non-MDD. The low-prevalence rate of MDD in our patient population suggests that PD may be a psychological stressor for MDD, but does not necessarily induce MDD.

  6. Depression risk in patients with coronary heart disease in Germany

    PubMed Central

    Konrad, Marcel; Jacob, Louis; Rapp, Michael A; Kostev, Karel

    2016-01-01

    AIM To determine the prevalence of depression and its risk factors among patients with coronary heart disease (CHD) treated in German primary care practices. METHODS Longitudinal data from nationwide general practices in Germany (n = 1072) were analyzed. Individuals initially diagnosed with CHD (2009-2013) were identified, and 59992 patients were included and matched (1:1) to 59992 controls. The primary outcome measure was an initial diagnosis of depression within five years after the index date among patients with and without CHD. Cox proportional hazards models were used to adjust for confounders. RESULTS Mean age was equal to 68.0 years (SD = 11.3). A total of 55.9% of patients were men. After a five-year follow-up, 21.8% of the CHD group and 14.2% of the control group were diagnosed with depression (P < 0.001). In the multivariate regression model, CHD was a strong risk factor for developing depression (HR = 1.54, 95%CI: 1.49-1.59, P < 0.001). Prior depressive episodes, dementia, and eight other chronic conditions were associated with a higher risk of developing depression. Interestingly, older patients and women were also more likely to be diagnosed with depression compared with younger patients and men, respectively. CONCLUSION The risk of depression is significantly increased among patients with CHD compared with patients without CHD treated in primary care practices in Germany. CHD patients should be routinely screened for depression to ensure improved treatment and management. PMID:27721937

  7. Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients.

    PubMed

    Claridge, K G; Gibberd, F B; Sidey, M C

    1992-01-01

    Refsum disease (heredopathia atactica polyneuritiformis) was first described in 1946 and is a rare recessively inherited metabolic disease affecting phytanic acid metabolism. It causes retinitis pigmentosa, cataracts, a chronic polyneuropathy, cerebellar ataxia and cardiac arrhythmias amongst other clinical signs. By limiting dietary intake, plasma phytanic acid levels fall with an improvement in the neurological signs. The onset of retinitis pigmentosa usually precedes biochemical diagnosis by several years by which time the retinal damage is severe. A series of 23 patients have been reviewed. There was an average delay of 11 years (range 1-28 years) between the patient presenting to the ophthalmologist and being diagnosed as having Refsum disease. Although serial examinations have failed to show a definite change in the course of visual deterioration with treatment, early diagnosis is important to prevent the development of neurological disease.

  8. Cancer Risk in Patients With Inflammatory Systemic Autoimmune Rheumatic Diseases

    PubMed Central

    Yu, Kuang-Hui; Kuo, Chang-Fu; Huang, Lu Hsiang; Huang, Wen-Kuan; See, Lai-Chu

    2016-01-01

    Abstract The aim of this study was to determine whether inflammation is related to cancer development, and whether the incidence of cancer is increased and occurs in a site-specific manner in patients with systemic autoimmune rheumatic diseases (SARDs). This study included a nationwide dynamic cohort of patients with various newly diagnosed SARDs from 1997 to 2010 with follow-up until 2012. This study included 75,123 patients with SARDs. During 562,870 person-years of follow-up, 2844 patients developed cancer. Between 1997 and 2010, the highest number of newly diagnosed SARDs cases were rheumatoid arthritis (n = 35,182), followed by systemic lupus erythematosus (SLE, n = 15,623), Sjögren syndrome (n = 11,998), Kawasaki disease (n = 3469), inflammatory bowel disease (n = 2853), scleroderma (n = 1814), Behçet disease (n = 1620), dermatomyositis (n = 1119), polymyositis (n = 811), and vasculitis other than Kawasaki disease (n = 644). A significant standardized incidence ratio (SIR) of overall cancer was observed for patients with SLE (1.41; 95% confidence interval [CI], 1.28–1.56), Sjögren syndrome (1.19; 95% CI, 1.08–1.30), scleroderma (1.27; 95% CI, 1.02–1.59), dermatomyositis (4.79; 95% CI, 4.01–5.73), polymyositis (1.47; 95% CI, 1.05–2.06), vasculitis excluding Kawasaki disease (1.75; 95% CI, 1.20–2.55), and Kawasaki disease (2.88; 95% CI, 1.60–5.20). Overall, patients with most SARDs had a significantly higher risk of inflammation-associated site-specific cancers and hematologic malignancies. This study confirms that autoimmunity is associated with site-specific and hematological malignancies and provides clinical evidence of an association between inflammation and subsequent site-specific cancer development. These findings support the importance of inflammation in site-specific organ system carcinogenesis. PMID:27149461

  9. Alcoholic patients' response to their disease: perspective of patients and family

    PubMed Central

    Lima-Rodríguez, Joaquín Salvador; Guerra-Martín, María Dolores; Domínguez-Sánchez, Isabel; Lima-Serrano, Marta

    2015-01-01

    Objective: to know the perspective of alcoholic patients and their families about the behavioral characteristics of the disease, identifying the issues to modify the addictive behavior and seek rehabilitation. Method: ethnographic research using interpretative anthropology, via participant observation and a detailed interview with alcoholic patients and their families, members of Alcoholics Anonymous (AA) and Alanon in Spain. Results: development of disease behavior in alcoholism is complex due to the issues of interpreting the consumption model as a disease sign. Patients often remain long periods in the pre-contemplation stage, delaying the search for assistance, which often arrives without them accepting the role of patient. This constrains the recovery and is related to the social thought on alcoholism and self-stigma on alcoholics and their families, leading them to deny the disease, condition of the patient, and help. The efforts of self-help groups and the involvement of health professionals is essential for recovery. Conclusion: understanding how disease behavior develops, and the change process of addictive behavior, it may be useful for patients, families and health professionals, enabling them to act in a specific way at each stage. PMID:26626009

  10. Updates in vaccination: Recommendations for adult inflammatory bowel disease patients

    PubMed Central

    Chaudrey, Khadija; Salvaggio, Michelle; Ahmed, Aftab; Mahmood, Sultan; Ali, Tauseef

    2015-01-01

    Treatment regimens for inflammatory bowel disease (IBD) incorporate the use of a variety of immunosuppressive agents that increase the risk of infections. Prevention of many of these infections can be achieved by the timely and judicious use of vaccinations. IBD patients tend to be under-immunized. Some of the contributing factors are lack of awareness regarding the significance of vaccinating IBD patients, misperception about safety of vaccinations in immunocompromised patients, ambiguity about the perceived role of the gastroenterologist in contrast to the primary care physician and unavailability of vaccination guidelines focused on IBD population. In general, immunocompetent IBD patients can be vaccinated using standard vaccination recommendations. However there are special considerations for IBD patients receiving immunosuppressive therapy, IBD travelers and pregnant women with IBD. This review discusses current vaccination recommendations with updates for adult IBD patients. Centers for Disease Control and Prevention 2013 vaccination guidelines with 2014 updates and the Advisory Committee on Immunization Practices recommendations have been highlighted as a primary source of recommendations. PMID:25805924

  11. Trace elements in sera from patients with renal disease

    NASA Astrophysics Data System (ADS)

    Miura, Yoshinori; Nakai, Keiko; Sera, Kouichiro; Sato, Michirou

    1999-04-01

    In hemodialysis (HD) patients, an accumulation of trace elements such as aluminum, copper, silicon and vanadium has been reported. Aluminum-caused encephalopathy and aluminum-related bone diseases are important trace element-related complications. Using particle induced X-ray emission (PIXE) we determined concentrations of aluminum, silicon, copper, zinc, selenium and bromine in sera of 29 patients with HD, 14 nondialysis patients with renal disease (RD) and 27 normal controls. The concentration of serum silicon of the patients with HD was 107.4 ± 61.3 μmol/l, which is markedly higher than that of normal controls (48.3 ± 25.8 μmol/l, p < 0.0001). The serum concentrations of zinc and bromine in patients with HD were 11.9 ± 1.7 and 21.3 ± 3.0 μmol/l, respectively. Both were markedly lower than those of normal controls (15.6 ± 2.6, 69.2 ± 8.3 μmol/l, p < 0.0001). The concentrations of aluminium and bromine in the serum of patients with RD were 171.9 ± 64.3 and 81.9 ± 11.6 μmol/l, which were markedly higher than those of normal controls ( p < 0.0001, p < 0.001). No significant differences were observed in the concentration of copper and selenium among three groups.

  12. Cognitive function in patients with Parkinson's disease undergoing stereotaxic thalamotomy.

    PubMed Central

    Lund-Johansen, M; Hugdahl, K; Wester, K

    1996-01-01

    OBJECTIVE--To determine whether thalamotomy leads to cognitive disturbances in patients with Parkinson's disease. METHODS--A total of 53 patients with Parkinson's disease undergoing stereotaxic ventrolateral thalamotomy for tremor and rigidity were tested for cognitive functions before and after surgery. The cognitive functions investigated involved visuospatial perception and memory. verbal memory, attention shift, and executive functions including set maintenance and shift. A neuropsychological test battery was used that contained the Wisconsin card sorting test, Street completion test, Stroop test, a dichotic memory listening test, and a facial recognition test. RESULTS--Clinically, a good or moderately good effect on parkinsonian symptoms was obtained in 50 patients. The neuropsychological investigations showed that the patients were impaired compared with healthy age matched control subjects on most tests, showing slight improvement postoperatively on verbal memory and visuospatial perception. No major differences were found between tests before and after operation, and there were no significant differences between patients undergoing surgery in the right or in the left thalamus. CONCLUSION--The study indicates that ventrolateral thalamotomy does not reduce the cognitive capacity in this group of patients. PMID:8778265

  13. Tai Chi Chuan Exercise for Patients with Cardiovascular Disease

    PubMed Central

    Lan, Ching; Chen, Ssu-Yuan; Wong, May-Kuen; Lai, Jin Shin

    2013-01-01

    Exercise training is the cornerstone of rehabilitation for patients with cardiovascular disease (CVD). Although high-intensity exercise has significant cardiovascular benefits, light-to-moderate intensity aerobic exercise also offers health benefits. With lower-intensity workouts, patients may be able to exercise for longer periods of time and increase the acceptance of exercise, particularly in unfit and elderly patients. Tai Chi Chuan (Tai Chi) is a traditional Chinese mind-body exercise. The exercise intensity of Tai Chi is light to moderate, depending on its training style, posture, and duration. Previous research has shown that Tai Chi enhances aerobic capacity, muscular strength, balance, and psychological well-being. Additionally, Tai Chi training has significant benefits for common cardiovascular risk factors, such as hypertension, diabetes mellitus, dyslipidemia, poor exercise capacity, endothelial dysfunction, and depression. Tai Chi is safe and effective in patients with acute myocardial infarction (AMI), coronary artery bypass grafting (CABG) surgery, congestive heart failure (HF), and stroke. In conclusion, Tai Chi has significant benefits to patients with cardiovascular disease, and it may be prescribed as an alternative exercise program for selected patients with CVD. PMID:24348732

  14. MMPI for personality characteristics of patients with different diseases.

    PubMed

    Pop-Jordanova, N

    2015-01-01

    In the field of psychosomatic medicine the relationship between personality characteristics and diseases is supposed to be an important issue. The aim of this article is to present group's MMPI profiles obtained for patients with different chronic diseases and to discuss about possible specific features of these different groups. We summarized results obtained by psychological testing of following groups of patients: adult patients treated with chronic maintenance dialysis, patients with diabetic retinopathy, general anxiety group, attack panic syndrome, parents of children with rheumatoid arthritis, as well as adolescents with mental anorexia, cystic fibrosis, diabetes mellitus and leukemia. Two control groups comprised adults and adolescents, both without any health problems, selected randomly. As a psychometric test MMPI-201 was used. Statistic 10 package is used for statistical analysis. In our presentation it can be seen some typical personality characteristics for patients with chronic conditions. These findings could be helpful for clinicians concerning treatment planning and follow-up. In general, the MMPI helps us to obtain a global, factual picture from the self-assessment of the patient, explained in a psycho-technical language. Group's profile could be used in clinical practice for planning treatment and to suppose the prognosis of the illness. PMID:26076785

  15. [Vaccinations in patients with autoimmune inflammatory rheumatic diseases--EULAR recommendations for pediatric and adult patients].

    PubMed

    Müller-Ladner, Claudia; Müller-Ladner, Ulf

    2012-10-01

    Since patients with autoimmune inflammatory rheumatic diseases are prone to infectious complications--on one hand due to the rheumatic disease itself, on the other hand due to the immunosuppressive therapy--vaccination is an essential tool to prevent these infectious complications. Although there exist several recommendations for the vaccination of immunocompromised patients, many questions still remain for the distinct clinical situations of patients with autoimmune inflammatory rheumatic diseases. In addition, there are several questions concerning the safety and efficacy of various vaccinations, especially with regard to live-attenuated vaccines. Therefore, EULAR (European League Against Rheumatism) assembled two expert panels to clarify as much of these clinical problems as possible. After extensive literature review and evidence grading, the expert panels published recommendations for the vaccination of adult and pediatric patients, which are outlined in this review article.

  16. Diagnostic outcomes of magnetocardiography in patients with coronary artery disease

    PubMed Central

    Li, Yingmei; Che, Zaiqian; Quan, Weiwei; Yuan, Rong; Shen, Yue; Liu, Zongjun; Wang, Weiqing; Jin, Huigen; Lu, Guoping

    2015-01-01

    Objective: To evaluate the diagnostic outcomes of magnetocardiography (MCG) on the patients with coronary artery disease and compared the outcomes between MCG, ECG and Echocardiography. Methods: MCG measurements were performed on 101 patients with coronary artery disease and 116 healthy volunteers with a seven-channel magnetocardiographic system (MCG7, SQUID AG, Germany) installed in an unshielded room. CAD was diagnosed when stenosis ≥ 70% in ≥ 1 vessel. Three quantitative indicators were analyzed, R-max/T-max ratio, R value and á average angle. Results: R-max/T-max ratio of CAD group (6.30 ± 4.07) was much higher than that of healthy group (3.73 ± 1.41) (P < 0.001), R value of CAD group (69.16 ± 27.87)% was significantly higher than that of healthy group (34.96 ± 19.09)% (P < 0.001), á average angle of CAD group (221.46° ± 64.53°) was higher than that of healthy group (24.32° ± 20.70°) (P < 0.01). In 75 of 101 CAD patients (74.26%), MCG had abnormal mapping patterns. The resting ECG examination showed ischemic changes, such as abnormal Q waves and ST-T change in 49 patients (48.51%). Echocardiography revealed abnormal left ventricular wall motion and asynergy in 46 patients (45.54%). Thus, the diagnostic outcomes of MCG for the patients with CAD were much significant than those of ECG and echocardiography (P < 0.001). Conclusions: Our result showed that resting MCG under condition of an advanced data analysis has higher diagnostic outcomes and is superior to ECG or echocardiography for patients with CAD. MCG can detect ST-segment displacement caused by ischemic myocardium, thus helpful in diagnosing coronary artery disease early. PMID:25932186

  17. Pneumococcal vaccination rates in VHA patients with inflammatory bowel disease.

    PubMed

    Case, David J; Copeland, Laurel A; Stock, Eileen M; Herrera, Henry R; Pfanner, Timothy P

    2015-02-01

    Inflammatory bowel disease (IBD) is an inflammatory condition of the digestive tract not caused by infectious agents. Symptoms of IBD, such as diarrhea and pain, diminish one's quality of life. Underlying immune dysregulation may put IBD patients at risk for severe infectious disease making preventative vaccination highly recommended. Therefore, this study sought to assess rates of pneumococcal vaccination in patients with IBD.A cross-sectional observational study was employed utilizing administrative data extracts from the Veterans Health Administration (VHA) to identify patients diagnosed with IBD per International Classification of Diseases, Version 9, Clinical Modification codes. Their pneumococcal vaccine histories were determined from Common Procedural Terminology codes. Data were aggregated to the patient level and subjected to multivariable logistic regression to assess factors associated with receipt of the vaccination and 1-year mortality; survival analyses extended follow-up to as much as 4 years following IBD diagnosis.From October 2004 to September 2009, 49,350 patients were diagnosed with IBD in the VHA. Incidence was approximately 6000 cases/y. Patients averaged 62 years (±15, range 19-98) with 45% aged 65 or older. Approximately 6% were women, 21% were highly disabled from a military service-connected condition, 46% had hypertension, 38% dyslipidemia, and 18% diabetes. Only 20% of the cohort received pneumococcal vaccination including 5% vaccinated prior to IBD diagnosis, 2% on the date of diagnosis, and 13% subsequently. Being married, living outside the Northeast, and having more comorbidities were associated with vaccination before IBD diagnosis; models of vaccination at or after diagnosis demonstrated poor fit: little better than chance. Vaccinations before, after, and at diagnosis were protective against 1-year mortality adjusting for clinical and demographic covariates. Living in the South was an independent risk factor for death among IBD

  18. Treatment Outcome of Patients with Buruli Ulcer Disease in Togo

    PubMed Central

    Beissner, Marcus; Arens, Nathalie; Wiedemann, Franz; Piten, Ebekalisaï; Kobara, Basile; Bauer, Malkin; Herbinger, Karl-Heinz; Badziklou, Kossi; Banla Kere, Abiba; Löscher, Thomas; Nitschke, Jörg; Bretzel, Gisela

    2015-01-01

    Background Following introduction of antimycobacterial treatment of Buruli ulcer disease (BUD), several clinical studies evaluated treatment outcomes of BUD patients, in particular healing times, secondary lesions and functional limitations. Whereas recurrences were rarely observed, paradoxical reactions and functional limitations frequently occurred. Although systematic BUD control in Togo was established as early as 2007, treatment outcome has not been reviewed to date. Therefore, a pilot project on post-treatment follow-up of BUD patients in Togo aimed to evaluate treatment outcomes and to provide recommendations for optimization of treatment success. Methodology/Principal Findings Out of 199 laboratory confirmed BUD patients, 129 could be enrolled in the study. The lesions of 109 patients (84.5%) were completely healed without any complications, 5 patients (3.9%) had secondary lesions and 15 patients (11.6%) had functional limitations. Edema, category III ulcers >15cm, healing times >180 days and a limitation of movement at time of discharge constituted the main risk factors significantly associated with BUD related functional limitations (P<0.01). Review of all BUD related documentation revealed major shortcomings, in particular concerning medical records on adjuvant surgical and physiotherapeutic treatment. Conclusions/Significance This study presents the first systematic analysis of treatment outcome of BUD patients from Togo. Median times to healing and the absence of recurrences were in line with findings reported by other investigators. The percentage of functional limitations of 11.6% was lower than in other studies, and edema, category III ulcers, healing time >180 days and limitation of movement at discharge constituted the main risk factors for functional limitations in Togolese BUD patients. Standardized treatment plans, patient assessment and follow-up, as well as improved management of medical records are recommended to allow for intensified

  19. Falls in ambulatory non-demented patients with Parkinson's disease.

    PubMed

    Rascol, Olivier; Perez-Lloret, Santiago; Damier, Philippe; Delval, Arnaud; Derkinderen, Pascal; Destée, Alain; Meissner, Wassilios G; Tison, Francois; Negre-Pages, Laurence

    2015-10-01

    This study aimed at determining the prevalence of falling in PD patients, to assess generic and disease-specific clinical and pharmacological factors, relationship with health-related quality of life (HR-QoL) and changes in falls from OFF to ON in patients with motor fluctuations. Six-hundred and eighty-three PD patients of the COPARK survey were evaluated (11 had missing data and were excluded from the analysis). Patients with falls were identified as those with a UPDRS Item 13 ≥ 1 in the ON condition. All patients were assessed in a standardized manner [demographics, treatments, Unified PD Rating Scale (UPDRS), Hospital Anxiety and Depression Scale, Pittsburg questionnaire and HR-QoL scales (SF36, PDQ39)]. Falling was reported by 108/672 (16%) PD patients during the ON state and prevalence increased according to PD severity, from 5% in Hoehn and Yahr stage 1-60% in stage 4. Falling was significantly related to lower HR-QoL. Falling correlated with (1) generic factors such as female gender, age at the end of academic studies and diuretics consumption, (2) motor PD-specific factors including disease severity, frozen gait, difficulties when arising from a chair, dyskinesia and higher levodopa daily equivalent dose and (3) non-motor PD-specific factors such as orthostatic hypotension and hallucinations. Falling was more frequent in OFF than in ON in 48/74 (64%) patients with motor fluctuations and remained unchanged in 27 patients (36%). In summary, falling affected a significant proportion of PD patients, especially in advanced stages. It was associated with a variety of generic and PD-specific factors and was related to reduced HR-QoL. PMID:25845678

  20. Pulmonary arterial hypertension among Filipino patients with connective tissue diseases.

    PubMed

    Santos Estrella, Paul V; Lin, Yih Chang; Navarra, Sandra V

    2007-01-01

    We describe the clinical features, therapies, and clinical course of pulmonary arterial hypertension (PAH) in a group of Filipinos with connective tissue diseases (CTDs). We retrospectively reviewed the records of patients diagnosed with PAH by a two-dimensional echocardiogram as a tricuspid regurgitant jet of more than 25 mmHg. All patients had underlying CTDs, defined by the American College of Rheumatology criteria, and were seen at the rheumatology clinics of the University of Santo Tomas Hospital and the St. Luke's Medical Center, Philippines. Of the 33 patients (32 women) included in the analysis, there were 14 patients with systemic lupus erythematosus (SLE), 12 with scleroderma, 5 with mixed connective tissue disease (MCTD), 1 with primary antiphospholipid syndrome (APS), and 1 with dermatomyositis. The average age at PAH diagnosis was 38 +/- 14 years (mean +/- SD), and the mean duration of illness from CTD to PAH diagnosis was 53 +/- 52 months. Twelve patients had died at the time of this report, with a median duration of 15 months (range 1-57 months) from PAH diagnosis to mortality: six of these had scleroderma, five with SLE, and one with APS. The following therapies were used in this group of patients: low molecular weight heparin, warfarin, calcium-channel blockers, aspirin, cyclophosphamide, bosentan, iloprost, and sildenafil. We have described the clinical profile of PAH in a group of Filipino patients with CTDs, most commonly SLE. Various forms of pharmacologic therapies were used among these patients. Mortality remains high, particularly among those with underlying scleroderma. Early recognition and treatment are crucial in order to provide a better outcome for these patients.

  1. Quality of Life in Patients with Thyroid Eye Disease

    PubMed Central

    Bahmani-Kashkouli, Mohsen; Pakdel, Farzad; Astaraki, Arezoo; Hashemi, Masih; Honarbakhsh, Yasamin; Mirarmandehi, Bahareh; Jam, Sara

    2009-01-01

    Purpose To evaluate quality of life (QOL) before and after corticosteroid therapy for thyroid eye disease (TED) and to determine the impact of the disease on QOL. Methods A modified TED-QOL questionnaire was completed by consecutive patients before and at least 6 months after steroid therapy. All patients were clinically and biochemically euthyroid during the course of the study. QOL was assessed in subscales of visual function, psychosocial, and educational/counseling; TED was classified by severity score (NOSPECS) and Mourits’ clinical activity score. Results Overall, 61 patients including 18 (29.5%) male and 43 (70.5%) female subjects with mean age of 37.3±13.7 (range, 18–33) years were enrolled. Mean duration of thyroid dysfunction and TED were 40.1±44.8 and 26.5±38.2 months, respectively. Mean disease severity and activity significantly decreased, and visual and psychosocial function scores significantly improved following corticosteroid therapy for TED. Psychosocial score was significantly worse than visual function score before but not after steroid treatment. Linear regression analysis and Spearman correlation test showed no significant correlation between duration of thyroid dysfunction, duration of TED, disease severity and activity on one hand, and QOL scores on the other hand, before or after treatment. Conclusion TED seems to adversely affect psychosocial activity more than visual function. Corticosteroid therapy significantly improves QOL. No significant correlation seems to exist between QOL scores and the severity or activity of TED. PMID:23198067

  2. Histamine Blood Concentration in Ischemic Heart Disease Patients

    PubMed Central

    Zdravkovic, Vladimir; Pantovic, Suzana; Rosic, Gvozden; Tomic-Lucic, Aleksandra; Zdravkovic, Nemanja; Colic, Maja; Obradovic, Zdravko; Rosic, Mirko

    2011-01-01

    The aim of this study was to investigate histamine blood concentration in subjects suffering from different types of ischemic heart diseases during the period of eight days. Our results showed that the histamine blood level was associated with different types of ischemic heart diseases. The blood histamine level in all investigated patients was significantly higher when compared to control subjects (44.87 ± 1.09 ng mL−1), indicating the increase of histamine release in patients suffering from coronary diseases. In patients suffering from ACS-UA and ACS-STEMI, the second day peak of histamine level occurs (90.85 ± 6.34 ng mL−1 and 121.7 ± 6.34 ng mL−1, resp.) probably as the reperfusion event. Furthermore, our data suggest that histamine can be additional parameter of myocardial ischemia along with cardiac specific enzymes and may prove to be an excellent single prognostic marker for multitude of ischemic heart diseases. PMID:21687546

  3. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients

    SciTech Connect

    Shoffner, J.M.; Brown, M.D.; Torroni, A.; Lott, M.T.; Cabell, M.F.; Mirra, S.S.; Yang, C.C.; Gearing, M.; Salvo, R. ); Beal, M.F. )

    1993-07-01

    Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNA[sup Gln] gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations. 122 refs., 4 figs., 2 tabs.

  4. Silicon Carbide Mounts for Fabry-Perot Interferometers

    NASA Technical Reports Server (NTRS)

    Lindemann, Scott

    2011-01-01

    Etalon mounts for tunable Fabry- Perot interferometers can now be fabricated from reaction-bonded silicon carbide structural components. These mounts are rigid, lightweight, and thermally stable. The fabrication of these mounts involves the exploitation of post-casting capabilities that (1) enable creation of monolithic structures having reduced (in comparison with prior such structures) degrees of material inhomogeneity and (2) reduce the need for fastening hardware and accommodations. Such silicon carbide mounts could be used to make lightweight Fabry-Perot interferometers or could be modified for use as general lightweight optical mounts. Heretofore, tunable Fabry-Perot interferometer structures, including mounting hardware, have been made from the low-thermal-expansion material Invar (a nickel/iron alloy) in order to obtain the thermal stability required for spectroscopic applications for which such interferometers are typically designed. However, the high mass density of Invar structures is disadvantageous in applications in which there are requirements to minimize mass. Silicon carbide etalon mounts have been incorporated into a tunable Fabry-Perot interferometer of a prior design that originally called for Invar structural components. The strength, thermal stability, and survivability of the interferometer as thus modified are similar to those of the interferometer as originally designed, but the mass of the modified interferometer is significantly less than the mass of the original version.

  5. A Fabry-Perot Solid Etalon for Teaching.

    ERIC Educational Resources Information Center

    Bruce, P. J.; And Others

    1986-01-01

    Describes a solid etalon Fabry-Perot interferometer, discussing free spectral range, instrumental finesse, and temperature effects. Provides schematic of temperature control/display circuit. Explains use of 100 millimeter camera lens and 10 power micrometer eyepiece for resolving rings and measure diameters. (JM)

  6. Development of the Fabry-Perot Spectrometer Application

    NASA Technical Reports Server (NTRS)

    Browne, Kathryn

    2015-01-01

    Methane is a greenhouse gas with global warming effects 20 times more detrimental than carbon dioxide. Currently, only aircraft missions measure methane and do not provide continuous monitoring, This presentation will cover the Fabry-Perot spectrometer which will provide continuous monitoring of methane. It will also cover the development of the software used to extract and process the data the spectrometer collects.

  7. Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

    PubMed

    Mierzewska, H; Jamroz, E; Mazurczak, T; Hoffman-Zacharska, D; Szczepanik, E

    2016-01-01

    Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were detected in 14 boys from 11 families (~20%). Amongst the molecularly confirmed patients, 13 presented classical PMD forms but clinical phenotypes varied in the severity even amongst siblings. One patient presented a severe connatal form. One mother, obligate carrier, presented complicated SPG2 (spastic paraparesis). There was no phenotype-genotype correlation in our material. In many cases PMD was suspected with a delay of many years, sometimes only after birth of another affected child in the family. Pelizaeus-Merzbacher disease was most frequently misdiagnosed as cerebral palsy. PMID:27179222

  8. Methotrexate-induced pneumonitis in a patient with Crohn's disease.

    PubMed

    Margagnoni, Giovanna; Papi, Valeria; Aratari, Annalisa; Triolo, Luca; Papi, Claudio

    2010-06-01

    Pulmonary toxicity is a well recognised but infrequent adverse event of treatment with methotrexate. The vast majority of cases have occurred in patients with rheumatoid arthritis; here we present the case of a 44-year old woman with ileo-colonic Crohn's disease who developed methotrexate pneumonitis. The patient had a 10 year history of Crohn's disease and, in the last 18 months, she was treated with oral methotrexate because of steroid-dependency and intolerance to thiopurines. She was admitted to the hospital because of acute dyspnoea, non-productive cough and fever. High-resolution CT scan showed diffuse bilateral areas of ground-glass opacity, and pulmonary function tests disclosed a mild obstructive pattern with a decrease in carbon monoxide diffusing capacity. Blood cultures for pathogenic bacteria or fungi were negative as well as serologic tests against major pneumotropic agents. Methotrexate-induced lung injury was considered: the drug was discontinued and the patient received a steroid course with rapid symptomatic improvement. After 4 weeks pulmonary function tests and high-resolution chest CT scan were normal. To our knowledge this is the second reported case of methotrexate-induced pneumonitis occurring in a patient with Crohn's disease. A definite diagnosis has been made not invasively according to clinical, laboratory and radiological criteria and excluding any infectious aetiology of the pulmonary findings. PMID:21122509

  9. Renal diseases in haemophilic patients: pathogenesis and clinical management.

    PubMed

    Esposito, Pasquale; Rampino, Teresa; Gregorini, Marilena; Fasoli, Gianluca; Gamba, Gabriella; Dal Canton, Antonio

    2013-10-01

    Haemophilia A and B are genetic X-linked bleeding disorders, caused by mutations in genes encoding factors VIII and IX, respectively. Clinical manifestations of haemophilia are spontaneous haemorrhage or acute bleeding caused by minor trauma, resulting in severe functional consequences that can culminate in a debilitating arthropathy. Life expectancy and quality of life of patients with haemophilia have dramatically improved over the last years, mainly for new therapeutic options and the awareness to the risk of HCV and HIV infections. Different clinical problems arise from this important change in history of patients with haemophilia. In particular, ageing-related diseases, such as diabetes, hypertension and cancer, and chronic viral infections are emerging as new challenges in this patient population. Among the different types of chronic illnesses, renal diseases are of special interest as they involve some difficult management issues. In fact, decisions regarding adequate preventive strategies and viral infection treatment, the choice of the dialytic modality, placement of vascular access and prescription of dialytic treatments are particularly complicated, because only few data are available. In this review, we discuss the pathogenesis of renal damage in patients with haemophilia, especially in those with blood-transmitted viral infections, and the major issues about the management of renal diseases, including problems related to dialytic treatment and kidney transplantation, providing practical algorithms to guide the clinical decision-making process.

  10. Novel OCRL mutations in patients with Dent-2 disease.

    PubMed

    Böckenhauer, Detlef; Bökenkamp, Arend; Nuutinen, Matti; Unwin, Robert; Van't Hoff, William; Sirimanna, Tony; Vrljicak, Kristina; Ludwig, Michael

    2012-03-01

    Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal syndrome. To distinguish these patients from the more severe Lowe phenotype, they are diagnosed as having Dent-2 disease. We studied 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. With the exception of a lower prevalence of nephrocalcinosis, the renal phenotype is identical with patients harboring a CLCN5 mutation. Affected children may have some of the extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatine kinase/lactate dehydrogenase, blurring the distinction between those two clinical entities. PMID:27625797

  11. Novel OCRL mutations in patients with Dent-2 disease

    PubMed Central

    Böckenhauer, Detlef; Bökenkamp, Arend; Nuutinen, Matti; Unwin, Robert; van't Hoff, William; Sirimanna, Tony; Vrljicak, Kristina; Ludwig, Michael

    2012-01-01

    Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal syndrome. To distinguish these patients from the more severe Lowe phenotype, they are diagnosed as having Dent-2 disease. We studied 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. With the exception of a lower prevalence of nephrocalcinosis, the renal phenotype is identical with patients harboring a CLCN5 mutation. Affected children may have some of the extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatine kinase/lactate dehydrogenase, blurring the distinction between those two clinical entities.

  12. [Preparing patients with chronic pulmonary disease for air travel].

    PubMed

    Felkai, Péter; Böszörményi Nagy, György; Gyarmati, Ildikó

    2013-03-01

    Flying is the most important way of travelling in the continually growing international tourism. Number of passengers and those with preexisting diseases, mainly with cardiopulmonary problems, is increasing over years. One of the main tasks of the pre-travel advice is to assess tolerance to hypoxia of the traveler, and specify the necessity, as well as the type and volume of supplementary oxygen therapy. It is indispensable to know the cabin-environment and impact of that on the travelers' health. Travel medicine specialist has to be aware of the examinations which provide information for the appropriate decision on the fit-to-fly condition of the patient. The physician who prepares the patient with chronic obstructive pulmonary disease for repatriation by regular flight and the escorting doctor have to be fully aware of the possibilities, modalities, advantages and contraindications of the on-board oxygen supply and therapy. In this review, the authors give a summary of literature data, outline the tools of in-flight oxygen therapy as well as discuss possibilities for the preflight assessment of patients' condition including blood gas parameters required for safe air travel, as recommended in international medical literature. The preparation process for repatriation of patients with chronic obstructive pulmonary disease is also discussed. PMID:23434882

  13. Indirect self-destructive behavior in patients with Buerger's disease.

    PubMed

    Farberow, N L; Nehemkis, A M

    1979-02-01

    Patients with Buerger's disease (a circulatory illness) were studied to evaluate indirect self-destructive behavior (ISDB), evidence by neglect in following medical regimen, disregard of suggestions for environmental imporvements (avoidance of undue exposure to cold) and refusal to abstain from smoking. Personality characteristics and behavioral phenomena associated with ISDB were obtained by comparison of the files of 26 uncooperative patients with 26 matched cooperative controls with Buerger's disease and with 25 Buerger's disease patients representing a unselected annual population in a Veterans Administration (VA) hospital. The experimental group was characterized as more often complaining, manipulative, and aggressive. They manifested denial, negligence, and a tendency to minimize their illness. They were more likely to complain of pain and to demand relief. In a second clinical investigation of patients still in the hospital, 12 experimentals were compared with 12 controls using interview data and psychological tests measuring attitudes toward time and toward death. The experimentals did not seem to value time nor to be interested in achievement. They felt that a dull life was worse than death.

  14. Communication strategies employed by rare disease patient organizations in Spain.

    PubMed

    Castillo-Esparcia, Antonio; López-Villafranca, Paloma

    2016-08-01

    The current study focuses on communication strategies employed by rare disease patient organizations. The aims of these organizations are: educate and inform the public about rare diseases, raise awareness of the problems related to rare diseases, and achieve social legitimacy in order give visibility to their demands. We analyzed the portrayal of rare disease and patient organizations by Spain's major media organizations in terms of circulation and viewership - the press (El País, El Mundo, La Vanguardia,ABC and El Periódico), radio (CadenaSer, Onda Cero, Cope and RNE), and television (Telecinco, Antena 3, La 1, La Sexta, Cuatro) -between 2012 and 2014.We then carried out a descriptive analysis of communication activities performed via the World Wide Web and social networks by 143 national organizations. Finally, we conducted a telephone questionnaire of a representative sample of 90 organizations in order to explore the association between media presence and funding and public image. The triangulation of quantitative and qualitative methods allowed us to meet the study's objectives. Increased visibility of the organizations afforded by an increase in the coverage of the topic by the medialed to an increase in membership - but not in donations - and increased awareness of these diseases. PMID:27557016

  15. Clinical and radiological correlations in patients with gestational trophoblastic disease*

    PubMed Central

    Lima, Lana de Lourdes Aguiar; Parente, Raphael Câmara Medeiros; Maestá, Izildinha; Amim Junior, Joffre; de Rezende Filho, Jorge Fonte; Montenegro, Carlos Antonio Barbosa; Braga, Antônio

    2016-01-01

    Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging. PMID:27777478

  16. Economics of psychosocial factors in patients with cardiovascular disease.

    PubMed

    Rodwin, Benjamin A; Spruill, Tanya M; Ladapo, Joseph A

    2013-01-01

    Growing evidence supports a causal relationship between cardiovascular disease and psychosocial factors such as mental health and behavioral disorders, acute and chronic stress, and low socioeconomic status. While this has enriched our understanding of the interaction between cardiovascular risk factors, much less is known about its economic implications. In this review, we evaluate the economic impact of psychosocial factors in persons at risk for or diagnosed with cardiovascular disease. Most studies have focused on depression and almost uniformly conclude that patients with cardiovascular disease and comorbid depression use a greater number of ambulatory and hospital services and incur higher overall costs. Additionally, comorbid depression may also reduce employment productivity in patients with cardiovascular disease, further magnifying its economic impact. Recent randomized trials have demonstrated that innovative care delivery models that target depression may reduce costs or at least be cost neutral while improving quality of life. The growing population burden and overlap of cardiovascular disease, comorbid mental illness, and other psychosocial factors suggest that future research identifying cost-effective or cost-saving treatment models may have significant health and economic implications.

  17. Communication strategies employed by rare disease patient organizations in Spain.

    PubMed

    Castillo-Esparcia, Antonio; López-Villafranca, Paloma

    2016-08-01

    The current study focuses on communication strategies employed by rare disease patient organizations. The aims of these organizations are: educate and inform the public about rare diseases, raise awareness of the problems related to rare diseases, and achieve social legitimacy in order give visibility to their demands. We analyzed the portrayal of rare disease and patient organizations by Spain's major media organizations in terms of circulation and viewership - the press (El País, El Mundo, La Vanguardia,ABC and El Periódico), radio (CadenaSer, Onda Cero, Cope and RNE), and television (Telecinco, Antena 3, La 1, La Sexta, Cuatro) -between 2012 and 2014.We then carried out a descriptive analysis of communication activities performed via the World Wide Web and social networks by 143 national organizations. Finally, we conducted a telephone questionnaire of a representative sample of 90 organizations in order to explore the association between media presence and funding and public image. The triangulation of quantitative and qualitative methods allowed us to meet the study's objectives. Increased visibility of the organizations afforded by an increase in the coverage of the topic by the medialed to an increase in membership - but not in donations - and increased awareness of these diseases.

  18. Role of disease status and type D personality in outcomes in patients with peripheral arterial disease.

    PubMed

    Aquarius, Annelies E; Denollet, Johan; Hamming, Jaap F; De Vries, Jolanda

    2005-10-01

    Patients with peripheral arterial disease (PAD) often experience diminishing quality of life (QOL) in many domains of their lives. However, factors associated with impaired QOL and perceived stress in these patients are not completely understood. The relative effects of disease status and type D ("distressed") personality (tendencies to experience negative emotions and be socially inhibited) on these patient-based outcomes were examined. It has been argued that type D personality might depend on disease status; therefore, its effect was examined in a combined sample of 150 patients with PAD and 150 healthy controls. The Type D Scale-14, World Health Organization Quality of Life Assessment Instrument-100, and Perceived Stress Scale-10 Item assessed type D personality, QOL, and perceived stress, respectively. PAD severity (mild, moderate, or severe) was not associated with QOL or perceived stress. However, patients with PAD reported decreased QOL (p < 0.05) compared with healthy controls. Type D patients reported significantly poorer QOL than non-type D patients across PAD and healthy subgroups (p < 0.0001). After controlling for disease status (presence or absence of PAD), type D personality remained associated with increased risk for impaired QOL (odds ratio [OR] 7.35, 95% confidence interval [CI] 3.39 to 15.96, p < 0.0001) and perceived stress (OR 6.45, 95% CI 3.42 to 12.18, p < 0.0001). Hence, type D personality was associated with impaired QOL beyond the impairment already related to PAD and with increased stress in this high-risk population. In conclusion, type D personality is not merely a function of PAD but seems to represent a different determinant of patient-based outcomes.

  19. [THE PROGRAM OF PHYSICAL REHABILITATION FOR PATIENTS WITH CORONARY HEART DISEASE AND HYPERTENSIVE DISEASE].

    PubMed

    Makarova, I N; Starikov, S M; Bolotov, D D

    2016-01-01

    The authors demonstrate the importance of individual criteria for the choice of dosed physical load for the patients with cardiological problems during hospitalization. The analysis of the functional state and hemodynamic parameters included 68 patients with various cardiovascular diseases before and after performance of the special program of physical rehabilitation. The results suggest high efficiency of the proposed treatment and good prospects for further studies in this field. PMID:27172720

  20. Use of complementary therapies in patients with cardiovascular disease.

    PubMed

    Yeh, Gloria Y; Davis, Roger B; Phillips, Russell S

    2006-09-01

    Previous studies have suggested that patients with chronic medical conditions use complementary and alternative medicine (CAM) at a higher rate than the general population. Despite recent interest in CAM for cardiovascular disease, few data are available regarding patterns of use in patients with cardiovascular disease in the United States. This study used the 2002 National Health Interview Survey and analyzed data on CAM use in 10,572 respondents with cardiovascular disease. Among those with cardiovascular disease, 36% had used CAM (excluding prayer) in the previous 12 months. The most commonly used therapies were herbal products (18%) and mind-body therapies (17%). Among herbs, echinacea, garlic, ginseng, ginkgo biloba, and glucosamine with or without chondroitin were most commonly used. Among mind-body therapies, deep-breathing exercises and meditation