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Sample records for variable immunodeficiency disease

  1. Immunodeficiencies and autoimmune diseases: common variable immunodeficiency and Crohn-like

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    Saldaña-Dueñas, Cristina; Rubio-Iturria, Saioa

    2016-01-01

    Background: Common variable immunodeficiency (CVI) gives a major risk of principally respiratory and digestive infections. It is associated with autoimmune diseases, granulomatous process and neoplasias. The digestive clinic is common, in 10% of patients it is the only symptom, and 60% present chronic diarrhea. Clinically it can be confused and related with other pathologies such as inflammatory bowel disease which is infrequent (2-13%). Case report: We present the case of a patient with CVI ...

  2. Immunodeficiencies and autoimmune diseases: common variable immunodeficiency and Crohn-like

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    Cristina Saldaña-Dueñas

    Full Text Available Background: Common variable immunodeficiency (CVI gives a major risk of principally respiratory and digestive infections. It is associated with autoimmune diseases, granulomatous process and neoplasias. The digestive clinic is common, in 10% of patients it is the only symptom, and 60% present chronic diarrhea. Clinically it can be confused and related with other pathologies such as inflammatory bowel disease which is infrequent (2-13%. Case report: We present the case of a patient with CVI with digestive symptoms being diagnosed of Crohn-like disease with extent ileal affectation. The main treatment of these patients is the same as classical Crohn disease although in the most severe cases, as this one, the use of immunosupresors is necessary. At this time the patient remains on clinical remmision with infliximab. She presented a previous adverse reaction with adalimumab. Discussion: The few case series in this pathology makes the treatment with immunomodulators in this immunodeficiency a real diagnostic and therapeutic challenge.

  3. Intravenous Immunoglobulin Monotherapy for Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency.

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    Hasegawa, Mizue; Sakai, Fumikazu; Okabayashi, Asako; Sato, Akitoshi; Yokohori, Naoko; Katsura, Hideki; Asano, Chihiro; Kamata, Toshiko; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo; Ogura, Takashi; Takemura, Tamiko

    2017-11-01

    Common variable immunodeficiency (CVID) is a heterogeneous subset of immunodeficiency disorders. Recurrent bacterial infection is the main feature of CVID, but various non-infectious complications can occur. A 42-year-old woman presented with cough and abnormal chest X-ray shadows. Laboratory tests showed remarkable hypogammaglobulinemia. Computed tomography revealed multiple consolidation and nodules on the bilateral lung fields, systemic lymphadenopathy, and splenomegaly. A surgical lung biopsy specimen provided the final diagnosis of lymphoproliferative disease in CVID, which was grouped under the term granulomatous lymphocytic interstitial lung disease. Interestingly, the lung lesions of this case resolved immediately after the initiation of intravenous immunoglobulin monotherapy.

  4. Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings.

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    Maglione, Paul J; Overbey, Jessica R; Cunningham-Rundles, Charlotte

    2015-01-01

    Common variable immunodeficiency may be complicated by interstitial lung disease, which leads to worsened morbidity and mortality in some. Although immunomodulatory treatment has efficacy, choice of patient, duration of treatment, and long-term follow-up are not available. Interstitial lung disease appears stable in certain instances, so it is not known whether all patients will develop progressive disease or require immunomodulatory therapy. This study aims to determine if all common variable immunodeficiency patients with interstitial lung disease have physiological worsening, and if clinical and/or laboratory parameters may correlate with disease progression. A retrospective review of medical records at Mount Sinai Medical Center in New York was conducted for referred patients with common variable immunodeficiency, CT scan-confirmed interstitial lung disease, and periodic pulmonary function testing covering 20 or more months before immunomodulatory therapy. Fifteen patients were identified from the retrospective review and included in this study. Of the 15 patients with common variable immunodeficiency, 9 had physiological worsening of interstitial lung disease adapted from consensus guidelines, associated with significant reductions in forced expiratory volume in 1 second, forced vital capacity, and diffusion capacity of the lung for carbon monoxide. Those with progressive lung disease also had significantly lower mean immunoglobulin G levels, greater increases and highest levels of serum immunoglobulin M (IgM), and more significant thrombocytopenia. Interstitial lung disease resulted in physiological worsening in many, but not all subjects, and was associated with suboptimal immunoglobulin G replacement. Those with worsening pulmonary function tests, elevated IgM, and severe thrombocytopenic episodes appear to be at highest risk for progressive disease. Such patients may benefit from immunomodulatory treatment. Copyright © 2015 American Academy of Allergy

  5. Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.

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    Abbott, Jordan K; Gelfand, Erwin W

    2015-11-01

    Common variable immunodeficiency (CVID) refers to a grouping of antibody deficiencies that lack a more specific genetic or phenotypic classification. It is the immunodeficiency classification with the greatest number of constituents, likely because of the numerous ways in which antibody production can be impaired and the frequency in which antibody production becomes impaired in human beings. CVID comprises a heterogeneous group of rare diseases. Consequently, CVID presents a significant challenge for researchers and clinicians. Despite these difficulties, both our understanding of and ability to manage this grouping of complex immune diseases has advanced significantly over the past 60 years. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Common variable immunodeficiency in a horse.

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    Flaminio, M Julia B F; LaCombe, Veronique; Kohn, Catherine W; Antczak, Douglas F

    2002-11-01

    A 12-year-old Quarter Horse mare that was nonresponsive to medical treatment was evaluated for chronic respiratory disease and hepatobiliary disease. Serum immunoglobulin concentrations were measured by use of radial immunodiffusion that revealed trace to nondetectable concentrations of IgG, IgG(T), IgM, and IgA. Use of serum protein electrophoresis confirmed agammaglobulinemia by the absence of the expected peak in the gamma region. In addition, vaccination with tetanus toxoid did not result in specific immunoglobulin production. Flow cytometric analysis of blood lymphocyte subpopulations revealed the absence of B cells in blood. Immunohistochemical analysis of tissue sections revealed the absence of B lymphocytes in bone marrow and spleen, with occasional B cells in the peripheral lymph nodes. Blood lymphocyte proliferation assays revealed weak responses to pokeweed mitogen and no response to stimulation with lipopolysaccharide. Considering the age and sex of the horse, results of the immunologic tests suggested a diagnosis of common variable immunodeficiency.

  7. Common Variable Immunodeficiency Caused by FANC Mutations.

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    Sekinaka, Yujin; Mitsuiki, Noriko; Imai, Kohsuke; Yabe, Miharu; Yabe, Hiromasa; Mitsui-Sekinaka, Kanako; Honma, Kenichi; Takagi, Masatoshi; Arai, Ayako; Yoshida, Kenichi; Okuno, Yusuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Muramatsu, Hideki; Kojima, Seiji; Hira, Asuka; Takata, Minoru; Ohara, Osamu; Ogawa, Seishi; Morio, Tomohiro; Nonoyama, Shigeaki

    2017-07-01

    Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4 + T cells were skewed toward CD45RO + memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients. Both patients had no anemia, neutropenia, or thrombocytopenia. Using WES, we identified compound heterozygous mutations of FANCE in one patient and homozygous mutation of FANCA in another patient. The impaired function of FANC protein complex was confirmed by a monoubiquitination assay and by chromosome fragility test. We then performed several immunological evaluations including quantitative lymphocyte analysis and TRECs/sjKRECs analysis for 32 individuals with Fanconi anemia (FA). In total, 22 FA patients (68.8%) were found to have immunological abnormalities, suggesting that such immunological findings may be common in FA patients. These data indicate that FANC mutations are involved in impaired lymphogenesis probably by the accumulation of DNA replication stress, leading to CVID. It is important to diagnose FA because it drastically changes clinical management. We propose that FANC mutations can cause isolated immunodeficiency in addition to bone marrow failure and malignancy.

  8. Autoimmune Cytopenias In Common Variable Immunodeficiency (CVID

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    Roshini Sarah Abraham

    2012-07-01

    Full Text Available Common variable immunodeficiency (CVID is a humoral immunodeficiency whose primary diagnostic features include hypogammaglobulinemia involving two or more immunoglobulin isotypes and impaired functional antibody responses in the majority of patients. While increased susceptibility to respiratory and other infections is a common thread that binds a large cross-section of CVID patients, the presence of autoimmune complications in this immunologically and clinically heterogeneous disorder is recognized in up to two-thirds of patients. Among the autoimmune manifestations reported in CVID (20-50%(Chapel et al., 2008;Cunningham-Rundles, 2008, autoimmune cytopenias are by far the most common occurring variably in 4-20% (Michel et al., 2004;Chapel et al., 2008 of these patients who have some form of autoimmunity. Association of autoimmune cytopenias with granulomatous disease and splenomegaly has been reported. The spectrum of autoimmune cytopenias includes thrombocytopenia, anemia and neutropenia. While it may seem paradoxical prima facie that autoimmunity is present in patients with primary immune deficiencies, in reality, it could be considered two sides of the same coin, each reflecting a different but inter-connected facet of immune dysregulation. The expansion of CD21low B cells in CVID patients with autoimmune cytopenias and other autoimmune features has also been previously reported. It has been demonstrated that this unique subset of B cells is enriched for autoreactive germline antibodies. Further, a correlation has been observed between various B cell subsets, such as class-switched memory B cells and plasmablasts, and autoimmunity in CVID. This review attempts to explore the most recent concepts and highlights, along with treatment of autoimmune hematological manifestations of CVID.

  9. Organising pneumonia in common variable immunodeficiency.

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    Boujaoude, Ziad; Arya, Rohan; Rafferty, William; Dammert, Pedro

    2013-06-07

    Common variable immunodeficiency (CVID) is the most common of the primary immunodeficiency disorders. Pulmonary manifestations are characterised by recurrent rhinosinusitis, respiratory tract infections and bronchiectasis. Less commonly the lung may be affected by lymphoid disorders and sarcoid-like granulomas. Organising pneumonia (OP) is a rare pulmonary manifestation. We report the case of a 32-year-old woman with CVID who presented with fever, dyspnoea and persistent lung infiltrates despite antibiotic therapy. CT of the chest showed bilateral patchy alveolar infiltrates. Pulmonary function tests revealed moderate restriction and reduction in diffusion capacity. Initial bronchoscopy with transbronchial biopsies did not yield a diagnosis but surgical lung biopsies identified OP. Significant clinical, radiographic and physiological improvement was achieved after institution of corticosteroid therapy.

  10. British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.

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    Hurst, John R; Verma, Nisha; Lowe, David; Baxendale, Helen E; Jolles, Stephen; Kelleher, Peter; Longhurst, Hilary J; Patel, Smita Y; Renzoni, Elisabetta A; Sander, Clare R; Avery, Gerard R; Babar, Judith L; Buckland, Matthew S; Burns, Siobhan; Egner, William; Gompels, Mark M; Gordins, Pavels; Haddock, Jamanda A; Hart, Simon P; Hayman, Grant R; Herriot, Richard; Hoyles, Rachel K; Huissoon, Aarnoud P; Jacob, Joseph; Nicholson, Andrew G; Rassl, Doris M; Sargur, Ravishankar B; Savic, Sinisa; Seneviratne, Suranjith L; Sheaff, Michael; Vaitla, Prashantha M; Walters, Gareth I; Whitehouse, Joanna L; Wright, Penny A; Condliffe, Alison M

    A proportion of people living with common variable immunodeficiency disorders develop granulomatous-lymphocytic interstitial lung disease (GLILD). We aimed to develop a consensus statement on the definition, diagnosis, and management of GLILD. All UK specialist centers were contacted and relevant physicians were invited to take part in a 3-round online Delphi process. Responses were graded as Strongly Agree, Tend to Agree, Neither Agree nor Disagree, Tend to Disagree, and Strongly Disagree, scored +1, +0.5, 0, -0.5, and -1, respectively. Agreement was defined as greater than or equal to 80% consensus. Scores are reported as mean ± SD. There was 100% agreement (score, 0.92 ± 0.19) for the following definition: "GLILD is a distinct clinico-radio-pathological ILD occurring in patients with [common variable immunodeficiency disorders], associated with a lymphocytic infiltrate and/or granuloma in the lung, and in whom other conditions have been considered and where possible excluded." There was consensus that the workup of suspected GLILD requires chest computed tomography (CT) (0.98 ± 0.01), lung function tests (eg, gas transfer, 0.94 ± 0.17), bronchoscopy to exclude infection (0.63 ± 0.50), and lung biopsy (0.58 ± 0.40). There was no consensus on whether expectant management following optimization of immunoglobulin therapy was acceptable: 67% agreed, 25% disagreed, score 0.38 ± 0.59; 90% agreed that when treatment was required, first-line treatment should be with corticosteroids alone (score, 0.55 ± 0.51). Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  11. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

    NARCIS (Netherlands)

    Wehr, Claudia; Gennery, Andrew R.; Lindemans, Caroline; Schulz, Ansgar; Hoenig, Manfred; Marks, Reinhard; Recher, Mike; Gruhn, Bernd; Holbro, Andreas; Heijnen, Ingmar; Meyer, Deborah; Grigoleit, Goetz; Einsele, Hermann; Baumann, Ulrich; Witte, Thorsten; Sykora, Karl-Walter; Goldacker, Sigune; Regairaz, Lorena; Aksoylar, Serap; Ardeniz, Omur; Zecca, Marco; Zdziarski, Przemyslaw; Meyts, Isabelle; Matthes-Martin, Susanne; Imai, Kohsuke; Kamae, Chikako; Fielding, Adele; Seneviratne, Suranjith; Mahlaoui, Nizar; Slatter, Mary A.; Gungor, Tayfun; Arkwright, Peter D.; van Montfrans, JM; Sullivan, Kathleen E.; Grimbacher, Bodo; Cant, Andrew; Peter, Hans-Hartmut; Finke, Juergen; Gaspar, H. Bobby; Warnatz, Klaus; Rizzi, Marta

    Background: Common variable immunodeficiency (CVID) is usually well controlled with immunoglobulin substitution and immunomodulatory drugs. A subgroup of patients has a complicated disease course with high mortality. For these patients, investigation of more invasive, potentially curative

  12. Changes in B cell immunophenotype in common variable immunodeficiency: cause or effect – is bronchiectasis indicative of undiagnosed immunodeficiency?

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    Bright, P; Grigoriadou, S; Kamperidis, P; Buckland, M; Hickey, A; Longhurst, H J

    2013-01-01

    Common variable immunodeficiency (CVID) is the most common severe primary immunodeficiency, but the pathology of this condition is poorly understood. CVID involves a defect in the production of immunoglobulin from B cells, with a subsequent predisposition to infections. Approximately 10–20% of cases are inherited, but even in families with a genetic defect the penetrance is far from complete. A classification system for CVID has been suggested (EUROclass) based on B cell immunophenotyping, but it has not been shown that altered B cell immunophenotype is not a consequence of the complications and treatment of CVID. This study compares the EUROclass B cell immunophenotype of CVID patients (n = 30) with suitable disease controls with bronchiectasis (n = 11), granulomatous disease (Crohn's disease) (n = 9) and neurological patients on immunoglobulin treatment (n = 6). The results of this study correlate with previous literature, that alterations in B cell immunophenotype are associated strongly with CVID. Interestingly, three of the 11 bronchiectasis patients without known immunodeficiency had an altered B cell immunophenotype, suggesting the possibility of undiagnosed immunodeficiency, or that bronchiectasis may cause a secondary alteration in B cell immunophenotype. This study showed a significant difference in B cell immunophenotype between CVID patients compared to disease control groups of granulomatous disease and immunoglobulin treatment. This suggests that granulomatous disease (in Crohn's disease) and immunoglobulin treatment (for chronic neurological conditions) are not causal of an altered B cell immunophenotype in these control populations. PMID:23286946

  13. Inflammatory Bowel Disease in Primary Immunodeficiencies.

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    Kelsen, Judith R; Sullivan, Kathleen E

    2017-08-01

    Inflammatory bowel disease is most often a polygenic disorder with contributions from the intestinal microbiome, defects in barrier function, and dysregulated host responses to microbial stimulation. There is, however, increasing recognition of single gene defects that underlie a subset of patients with inflammatory bowel disease, particularly those with early-onset disease, and this review focuses on the primary immunodeficiencies associated with early-onset inflammatory bowel disease. The advent of next-generation sequencing has led to an improved recognition of single gene defects underlying some cases of inflammatory bowel disease. Among single gene defects, immune response genes are the most frequent category identified. This is also true of common genetic variants associated with inflammatory bowel disease, supporting a pivotal role for host responses in the pathogenesis. This review focuses on practical aspects related to diagnosis and management of children with inflammatory bowel disease who have underlying primary immunodeficiencies.

  14. Partial central diabetes insipidus in patient with common variable immunodeficiency.

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    Megías, Marta Cano; Matei, Ana Maria; Gonzalez Albarran, Olga; Perez Lopez, Gilberto

    2012-07-03

    Approximately 20% of patients with common variable immunodeficiency (CVID) have any autoimmune disease, as concurrent as prior to diagnosis, even during follow-up. In recent years, cases of CVID associated to endocrine autoimmune diseases have been reported. To our knowledge, no cases of CVID with diabetes insipidus has been reported previously. The authors present the case of a 37-year-old male, diagnosed of CVID, who had thirst, polyuria and nocturia for several years. After a water deprivation test and a complete resolution of patient's symptoms with vasopressin (DDAVP) treatment, diagnosis of partial central diabetes insipidus was finally made. Patients diagnosed of CVID could develop water misbalance due to posterior hypophysis autoimmune disorder. A high index of clinical suspicion, an early diagnosis and treatment of these disease could avoid future complications and improve the quality of life of these patients.

  15. Strategies for B-cell receptor repertoire analysis in Primary Immunodeficiencies:From severe combined immunodeficiency to common variable immunodeficiency

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    Hanna eIJspeert

    2015-04-01

    Full Text Available The antigen receptor repertoires of B and T cells form the basis of the adaptive immune response. The repertoires should be sufficiently diverse to recognize all possible pathogens. However, careful selection is needed to prevent responses to self or harmless antigens. Limited antigen receptor repertoire diversity leads to immunodeficiency, whereas unselected or misdirected repertoires can result in autoimmunity. The antigen receptor repertoire harbors information about abnormalities in many immunological disorders. Recent developments in next generation sequencing allow the analysis of the antigen receptor repertoire in much greater detail than ever before. Analyzing the antigen receptor repertoire in patients with mutations in genes responsible for the generation of the antigen receptor repertoire will give new insights into repertoire formation and selection. In this perspective we describe strategies and considerations for analysis of the naive and antigen selected B-cell repertoires in primary immunodeficiency (PID patients with a focus on severe combined immunodeficiency (SCID and common variable immunodeficiency (CVID.

  16. How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease?

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    Arslan, Sevket; Ucar, Ramazan; Caliskaner, Ahmet Zafer; Reisli, Ismail; Guner, Sukru Nail; Sayar, Esra Hazar; Baloglu, Ismail

    2016-02-01

    The European Society of Immunodeficiency (ESID) developed 6 warning signs to promote the awareness of adult primary immunodeficiency disease (PID). To screen adult patients for the presence of PID using these 6 warning signs to determine the effectiveness of this protocol. Questions related to the ESID warning signs for adult PID were added to the standard outpatient clinic file system and asked of 3,510 patients who were admitted to our clinic for any reason. Patients with signs and/or suspicion of PID based on their medical history underwent immunologic investigation. In total, 24 patients were diagnosed as having a PID. The most common reason that patients with PID were admitted was frequent infection (n=18 [75%]), and the most common PID subgroup was common variable immunodeficiency (n=12 [50%]). Twenty patients with PID had at least one positive finding according to the ESID warning signs. Two patients with gastrointestinal concerns and 2 with dermatologic symptoms were also diagnosed as having a PID, although they did not have any of the ESID warning signs. The ESID warning signs do not specify the need for symptoms to diagnose a PIDs and do not include a comprehensive list of all signs and symptoms of PIDs. As a result, more than infection-centric questions are needed to identify adult patients with immunodeficiencies. Copyright © 2016 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  17. Clinical and Immunological Features of Common Variable Immunodeficiency in China

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    Lian-Jun Lin

    2015-01-01

    Full Text Available Background: Common variable immunodeficiency (CVID is one of the most common symptomatic primary immunodeficiency syndromes. The purpose of this article was to broaden our knowledge about CVID for better diagnosis and treatment. Methods: Clinical and immunological features of 40 Chinese patients with CVID were analyzed retrospectively. Results: The median age at onset was 11-year-old (range 4-51 years. The median age at diagnosis was 14.5-year-old (range 5-66 years. The average time of delay in diagnosis was 5.3 years (range 1-41 years. The most common main complaint was fever due to infections (35 cases, 87.5%. Pneumonia (28 cases, 70% was the most common type of infections. Bronchiectasis was present in 6 patients (15%. Autoimmune disease was detected in 6 cases of CVID, and malignancy in 2 cases. The median total serum levels of IgG, IgA, and IgM at diagnosis were 1.07 g/L, 0.07 g/L, and 0.28 g/L, respectively. The percentages of CD3− /CD19 + B-cells were 1%-3.14%. Conclusions: Infection is the most frequent presentation of CVID. Patients with unexplainable infections should receive further examination including serum immunoglobulin (Ig and lymphocyte subset analysis. Regular and sufficient substitution with Ig is recommended.

  18. Loss of Retinal Function and Pigment Epithelium Changes in a Patient with Common Variable Immunodeficiency

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    Jakob Halborg

    2012-01-01

    Full Text Available Common variable immunodeficiency (CVID has only scarcely been associated with ocular symptoms and rarely with retinal disease. In this case we describe a patient with distinct morphological and functional alterations in the retina. The patient presents with characteristic changes in retinal pigment epithelium, autofluorescence, and electrophysiology.

  19. Dysregulation of Innate Lymphoid Cells in Common Variable Immunodeficiency.

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    Maglione, Paul J; Cols, Montserrat; Cunningham-Rundles, Charlotte

    2017-10-05

    Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immune deficiency. With widespread use of immunoglobulin replacement therapy, non-infectious complications, such as autoimmunity, chronic intestinal inflammation, and lung disease, have replaced infections as the major cause of morbidity and mortality in this immune deficiency. The pathogenic mechanisms that underlie the development of these complications in CVID are not known; however, there have been numerous associated laboratory findings. Among the most intriguing of these associations is elevation of interferon signature genes in CVID patients with inflammatory/autoimmune complications, as a similar gene expression profile is found in systemic lupus erythematosus and other chronic inflammatory diseases. Linked with this heightened interferon signature in CVID is an expansion of circulating IFN-γ-producing innate lymphoid cells. Innate lymphoid cells are key regulators of both protective and pathogenic immune responses that have been extensively studied in recent years. Further exploration of innate lymphoid cell biology in CVID may uncover key mechanisms underlying the development of inflammatory complications in these patients and may inspire much needed novel therapeutic approaches.

  20. Family physician perspectives on primary immunodeficiency diseases

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    Jordan eOrange

    2016-03-01

    Full Text Available Primary immunodeficiency diseases (PID include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed family practice physicians, of whom 44% reported following ≥1 patient with a PID. Selective immunoglobulin A (IgA, deficiency (21%, and chronic granulomatous disease (11% were most common and were followed by significantly more subspecialist immunologists (P<.0001. Use of intravenously administered Ig, and live viral vaccinations across PID was significantly different (P<.0001. Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4% vs. 79% of subspecialist immunologists, P<.0001. Family practice physicians will likely encounter patients with a PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

  1. Infection due to Mycobacterium bovis in common variable immunodeficiency

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    Diana Andrea Herrera-Sánchez

    2015-02-01

    Full Text Available Common variable immunodeficiency (CVID is an heterogeneous group of disorders characterized by impaired antibody production. It shows a wide spectrum of manifestations including severe and recurrent respiratory infections (Streptococcus pneumoniae, Haemophilus and gastrointestinal (Campylobacter jejuni, rotavirus and Giardia lamblia. Viral infections caused by herpes zoster, cytomegalovirus (CMV and hepatitis C are rare. The opportunistic agents such as CMV, Pneumocystis jirovecii, cryptococcus and atypical mycobacteria have been reported as isolated cases. This paper reports the case of a 38-year-old female patient, who began six years before with weight loss of 7 kg in six months, fatigue, weakness, sweating, fever and abdominal pain. Furthermore, patient had intestinal obstruction and abdominal CT showed mesenteric lymph growth. The mesenteric lymph node biopsy revealed positives Mycobacterium PCR, Ziehl-Neelsen staining and culture for M. bovis. In the laparotomy postoperative period was complicated with nosocomial pneumonia, requiring mechanical ventilation and tracheostomy. Two years later, she developed right renal abscess that required surgical drainage, once again with a positive culture for Mycobacterium bovis. She was referred to highly specialized hospital and we documented panhypogammaglobulinemia and lymphopenia. Secondary causes of hypogammaglobulinemia were ruled out and common variable immunodeficiency (CVID was confirmed, we started IVIG replacement. Four years later she developed mixed cellularity Hodgkin’s lymphoma. Until today she continues with IVIG and chemotherapy. This report of a patient with CVID and Mycobacterium bovis infection, a unusual association, shows the cellular immunity susceptibility in this immunodeficiency, additional to the humoral defect.

  2. Sweet's syndrome in association with common variable immunodeficiency.

    LENUS (Irish Health Repository)

    O'Regan, G M

    2009-03-01

    Sweet\\'s syndrome (SS), a rare reactive neutrophilic dermatosis, has been reported to occur in association with a variety of systemic disorders, categorized by von den Diesch into idiopathic, paraneoplastic, pregnancy and parainflammatory subgroups. The parainflammatory group has been well defined, and includes a wide spectrum of infectious triggers and disorders of immune dysregulation. To date, however, no cases of SS have been described in the context of common variable immunodeficiency (CVID). We report a case of paediatric-onset SS, previously reported as idiopathic, with a subsequent diagnosis of CVID.

  3. [Orofacial clinical manifestations in adult patients with variable common immunodeficiency].

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    Chávez-García, Aurora Alejandra; Moreno-Alba, Miguel Ángel; Elizalde-Monroy, Martín; Segura-Méndez, Nora Hilda; Romero-Flores, Jovita; Cambray-Gutiérrez, Julio César; López-Pérez, Patricia; Del Rivero-Hernández, Leonel Gerardo

    2015-01-01

    Common variable immunodeficiency is the primary immunodeficiency (CVID) frequently found in adults. Its prevalence is estimated from 1:25,000 to 75,000 alive newborns; there are variations by ethnic groups, it is estimated about 50-70% in Caucasian patients. Oral cavity lesions are rarely found in adult patients with CVID, there are reports about lesions on pediatric patients mostly caused by infections. To describe the orofacial lesions (oral, maxillofacial and neck area) affecting adults with CVID. A transversal, prospective study was done in patients with CVID attended at Specialties Hospital, CMN SXXI, Mexico City. Patients where examined by the oral and maxillofacial surgeon and clinical findings were reported, then the descriptive analysis of the lesions was done. We evaluated 26 patients, 16 female and 10 males, average age of 38.6 years. In 18/26 patients we found oral lesions on 7 different types. The most frequent was minor salivary glands hiperplasia (19/26),petechiae (12/26) and herpetic ulcers (7/26). In head and neck, we found 4 different lesions, the most common was lymphadenopathy <2cm (4/26). The immunologic alterations associated to CVID favors the development of lesions mainly of infectious and probably autoinmune origin that affects the oral cavity and head and neck area.

  4. Exposure to Human Immunodeficiency Disease. What Precautions ...

    African Journals Online (AJOL)

    Background: The Human Immunodeficiency Virus (HIV) epidemic is more pronounced in sub-Saharan Africa. The ever-increasing prevalence of HIV infection and the continued improvement in clinical management has increased the likelihood of these patients being managed by healthcare workers. The aim of the review ...

  5. Pediatric patients with common variable immunodeficiency: long-term follow-up.

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    Mohammadinejad, P; Aghamohammadi, A; Abolhassani, H; Sadaghiani, M S; Abdollahzade, S; Sadeghi, B; Soheili, H; Tavassoli, M; Fathi, S M; Tavakol, M; Behniafard, N; Darabi, B; Pourhamdi, S; Rezaei, N

    2012-01-01

    Common variable immunodeficiency (CVID) is the most common form of symptomatic primary immunodeficiency disease. It is characterized by hypogammaglobulinemia, increased predisposition to infections, autoimmunity, and cancer. This study was performed to evaluate the clinical and immunological features of a group of pediatric patients with CVID. The study population comprised 69 individuals with CVID diagnosed during childhood. The patients were followed up for a mean (SD) period of 5.2 (4.3) years. The mean diagnostic delay was 4.4 (3.6) years, which was significantly lower in patients who were diagnosed recently. Children were classified according to 5 clinical phenotypes: infections only (n=39), polyclonal lymphocytic infiltration (n=17), autoimmunity (n=12), malignancy (n=7), and enteropathy (n=3). Postdiagnosis survival (10-year) was 71%. The high percentages of pediatric patients with CVID in Iran may be due to the considerable prevalence of parental consanguinity in the region and an underlying genetic background.

  6. Malignancies in adult patients with common variable immunodeficiency

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    Eunice Giselle López-Rocha

    2015-03-01

    Full Text Available Background: Common variable immunodeficiency (CVID implies an increased risk of cancer, with an estimated incidence of 11-13%, particularly during the 5th and 6th decade of life. B cell-Hodgkin lymphomas are the more frequent cancer, followed by non-Hodgkin lymphoma and epithelial tumors (gastric, breast, bladder and cervix. Objective: To describe the types of cancers in a cohort of adult patients with CVID. Material and method: An observational, cross-sectional and descriptive study was made in which we reviewed the charts of patients with CVID attending the Primary Immunodeficiencies Clinic at Specialties Hospital Dr. Bernardo Sepulveda, Centro Medico Nacional Siglo XXI, Mexico City. Results: There were included 23 patients with CVID diagnosis, 13 women (56% and 10 men (44%, with an average age of 36.7 years. Four patients developed malignancies (2 men and 2 women, with a prevalence of 17.3%. The types of cancers in this group of patients were: B cell-Hodgkin lymphoma (1/23, neuroendocrine carcinoma of the pancreas (1/23, myeloid chronic leukemia (1/23 and thyroid papillary carcinoma (1/23. In two of the subjects the diagnosis of cancer was established previous to CVID diagnosis. The average age of diagnosis of cancer was 27 years (19-34 years. Conclusions: In our patients we found different types of malignancies compared to previously described. We consider necessary a screening protocol for an early diagnosis of cancer in these patients. The frequency of cancer in our population was the same as reported in the literature.

  7. Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

    Science.gov (United States)

    Sperlich, Johannes M; Grimbacher, Bodo; Workman, Sarita; Haque, Tanzina; Seneviratne, Suranjith L; Burns, Siobhan O; Reiser, Veronika; Vach, Werner; Hurst, John R; Lowe, David M

    Patients with common variable immunodeficiency (CVID) suffer frequent respiratory tract infections despite immunoglobulin replacement and are prescribed significant quantities of antibiotics. The clinical and microbiological nature of these exacerbations, the symptomatic triggers to take antibiotics, and the response to treatment have not been previously investigated. To describe the nature, frequency, treatment, and clinical course of respiratory tract exacerbations in patients with CVID and to describe pathogens isolated during respiratory tract exacerbations. We performed a prospective diary card exercise in 69 patients with CVID recruited from a primary immunodeficiency clinic in the United Kingdom, generating 6210 days of symptom data. We collected microbiology (sputum microscopy and culture, atypical bacterial PCR, and mycobacterial culture) and virology (nasopharyngeal swab multiplex PCR) samples from symptomatic patients with CVID. There were 170 symptomatic exacerbations and 76 exacerbations treated by antibiotics. The strongest symptomatic predictors for commencing antibiotics were cough, shortness of breath, and purulent sputum. There was a median delay of 5 days from the onset of symptoms to commencing antibiotics. Episodes characterized by purulent sputum responded more quickly to antibiotics, whereas sore throat and upper respiratory tract symptoms responded less quickly. A pathogenic virus was isolated in 56% of respiratory exacerbations and a potentially pathogenic bacteria in 33%. Patients with CVID delay and avoid treatment of symptomatic respiratory exacerbations, which could result in structural lung damage. However, viruses are commonly represented and illnesses dominated by upper respiratory tract symptoms respond poorly to antibiotics, suggesting that antibiotic usage could be better targeted. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  8. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

    NARCIS (Netherlands)

    Gathmann, Benjamin; Mahlaoui, Nizar; Gérard, Laurence; Oksenhendler, Eric; Warnatz, Klaus; Schulze, Ilka; Kindle, Gerhard; Kuijpers, Taco W.; van Beem, Rachel T.; Guzman, David; Workman, Sarita; Soler-Palacín, Pere; de Gracia, Javier; Witte, Torsten; Schmidt, Reinhold E.; Litzman, Jiri; Hlavackova, Eva; Thon, Vojtech; Borte, Michael; Borte, Stephan; Kumararatne, Dinakantha; Feighery, Conleth; Longhurst, Hilary; Helbert, Matthew; Szaflarska, Anna; Sediva, Anna; Belohradsky, Bernd H.; Jones, Alison; Baumann, Ulrich; Meyts, Isabelle; Kutukculer, Necil; Wågström, Per; Galal, Nermeen Mouftah; Roesler, Joachim; Farmaki, Evangelia; Zinovieva, Natalia; Ciznar, Peter; Papadopoulou-Alataki, Efimia; Bienemann, Kirsten; Velbri, Sirje; Panahloo, Zoya; Grimbacher, Bodo; de Vergnes, Nathalie; Costes, Laurence; Andriamanga, Chantal; Courteille, Virginie; Brosselin, Pauline; Korganow, Anne-Sophie; Lutz, Patrick; ten Berge, R. J. M.

    2014-01-01

    Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders.

  9. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

    NARCIS (Netherlands)

    Gathmann, B.; Mahlaoui, N.; Gerard, L.; Oksenhendler, E.; Warnatz, K.; Schulze, I.; Kindle, G.; Kuijpers, T.W.; Dutch, W.I.D.; Beem, R.T. van; Guzman, D.; Workman, S.; Soler-Palacin, P.; Gracia, J.; Witte, T. de; Schmidt, R.E.; Litzman, J.; Hlavackova, E.; Thon, V.; Borte, M.; Borte, S.; Kumararatne, D.; Feighery, C.; Longhurst, H.; Helbert, M.; Szaflarska, A.; Sediva, A.; Belohradsky, B.H.; Jones, A.; Baumann, U.; Meyts, I.; Kutukculer, N.; Wagstrom, P.; Galal, N.M.; Roesler, J.; Farmaki, E.; Zinovieva, N.; Ciznar, P.; Papadopoulou-Alataki, E.; Bienemann, K.; Velbri, S.; Panahloo, Z.; Grimbacher, B.; Meer, L.T. van der; Deuren, M. van; Netea, M.G.; Meer, J.W.M. van der; et al.,

    2014-01-01

    BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative

  10. Chronic Inflammatory Periodontal Disease in Patients with Human Immunodeficiency Virus.

    OpenAIRE

    Vania López Rodríguez; Emilio Carpio Muñoz; Vicente Fardales Macías; Iralys Benítez Guzmán

    2009-01-01

    Background: The Chronic Inflammatory Periodontal Disease is related with multiple risk factors. Those patients with human immunodeficiency virus have higher risk of presenting this disease and it is usually more serious in these cases. Objective: To describe the prevalence of Chronic Inflammatory Periodontal Disease in patients with HIV. Methods: Descriptive, observational, cross-sectional study including patients with HIV in Sancti Spiritus province. The occurrence of the disease was determi...

  11. Orbital diffuse large B-cell lymphoma with combined variable immunodeficiency.

    Science.gov (United States)

    Parikh, Vishal S; Jagadeesh, Deepa; Fernandez, James M; Hsi, Eric D; Singh, Arun D

    2017-10-01

    Common variable immunodeficiency (CVID) is a primary immunodeficiency manifesting as a reduction in the level of total immunoglobulin (Ig) G, a reduction in the level of either IgA or IgM, poor response to polysaccharide vaccine, and usually frequent infections. The association of CVID with an increased risk of malignancy, specifically lymphoma, is well known. A 63-year-old female with a past medical history significant for CVID presented with a 1-month history of dull, left eye pain with proptosis, hypoglobus, and left upper lid fullness without a discrete palpable mass. Magnetic resonance imaging (MRI) of the orbits revealed a diffuse infiltrating orbital mass superonasally with extension into the superior rectus muscle, medial rectus muscle, and optic nerve up to the orbital apex and ethmoid sinus. A superonasal orbital biopsy with a caruncular approach was performed and demonstrated a sparse lymphoid infiltrate that was suggestive for a large B-cell neoplasm. Positron emission tomography (PET) scan demonstrated a hypermetabolic right lymph node, anterior to the right submandibular gland, which was biopsied and histopathology confirmed diffuse large B-cell lymphoma (DLBCL). Our patient achieved a very good response to chemotherapy with minimal residual disease on PET scan at the end of treatment. She attained a complete remission after radiation therapy. In conclusion, patients with new orbital and adnexa masses in the setting of a primary immunodeficiency can have an aggressive malignancy such as DLBCL and early diagnosis and systemic treatment carries a good prognosis.

  12. Common variable immunodeficiency in three horses with presumptive bacterial meningitis.

    Science.gov (United States)

    Pellegrini-Masini, Alessandra; Bentz, Amy I; Johns, Imogen C; Parsons, Corrina S; Beech, Jill; Whitlock, Robert H; Flaminio, M Julia B F

    2005-07-01

    Three adult horses were evaluated for signs of musculoskeletal pain, dullness, ataxia, and seizures. A diagnosis of bacterial meningitis was made on the basis of results of CSF analysis. Because primary bacterial meningitis is so rare in adult horses without any history of generalized sepsis or trauma, immune function testing was pursued. Flow cytometric phenotyping of peripheral blood lymphocytes was performed, and proliferation of peripheral blood lymphocytes in response to concanavalin A, phytohemagglutinin, pokeweed mitogen, and lipopolysaccharide was determined. Serum IgA, IgM, and IgG concentrations were measured by means of radial immunodiffusion, and serum concentrations of IgG isotypes were assessed with a capture antibody ELISA. Serum tetanus antibody concentrations were measured before and 1 month after tetanus toxoid administration. Phagocytosis and oxidative burst activity of isolated peripheral blood phagocytes were evaluated by means of simultaneous flow cytometric analysis. Persistent B-cell lymphopenia, hypogammaglobulinemia, and abnormal in vitro responses to mitogens were detected in all 3 horses, and a diagnosis of common variable immunodeficiency was made.

  13. Hematopoietic stem cells transplant in patients with common variable immunodeficiency. Is a therapeutic option?

    Directory of Open Access Journals (Sweden)

    Julio César Cambray-Gutiérrez

    2017-02-01

    Full Text Available Background: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. Clinical case: Twenty-six-year old woman with no family or hereditary history of primary immune deficiencies or consanguinity, with repeated episodes of otitis, sinusitis, gastroenteritis and bronchitis since childhood. At adolescence, she was diagnosed with common variable immunodeficiency; she was prescribed intravenous gamma-globulin, broad-spectrum antimicrobials and macrolides. At 22 years of age, she underwent hematopoietic stem cell transplantation owing to continued severe infections. At 4 months, post-transplantation she was diagnosed with hypothyroidism and ovarian insufficiency. During the following 3 years, she had no infections, but at 25 years of age she had immune thrombocytopenic purpura diagnosed, which persists together with Raynaud’s disease and upper respiratory tract persistent infections. At the moment of this report she is being treated with intravenous gamma-globulin and receiving prophylaxis with clarithromycin, without steroids or danazol. Conclusions: Given the high rate of morbidity and mortality associated and immune reconstitution failure, hematopoietic stem cell transplantation should be carefully evaluated in patients with treatment-unresponsive infections or lymphoproliferative disorders.

  14. Immunodeficiency among children with recurrent invasive pneumococcal disease

    DEFF Research Database (Denmark)

    Ingels, Helene; Schejbel, Lone; Lundstedt, A C

    2015-01-01

    examined. RESULTS: In total, rIPD were observed in 54 children (68 cases of rIPD of 2192 IPD cases). Children with classical risk factors for IPD were excluded, and among the remaining 22 children, 15 were eligible for analysis. Of these 6 (40%) were complement C2-deficient. Impaired vaccination response......BACKGROUND: Recurrent invasive pneumococcal disease (rIPD) occurs mostly in children with an underlying disease, but some cases remain unexplained. Immunodeficiency has been described in children with rIPD, but the prevalence is unknown. We used a nationwide registry of all laboratory......-confirmed cases of rIPD to identify cases of unexplained rIPD and examine them for immunodeficiency. METHODS: Cases of rIPD in children 0-15 years of age from 1980 to 2008 were identified. Children without an obvious underlying disease were screened for complement function, T-cell, B-cell, natural killer...

  15. Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency.

    Science.gov (United States)

    Azizi, G; Kiaee, F; Hedayat, E; Yazdani, R; Dolatshahi, E; Alinia, T; Sharifi, L; Mohammadi, H; Kavosi, H; Jadidi-Niaragh, F; Ziaee, V; Abolhassani, H; Aghamohammadi, A

    2018-05-01

    Common variable immunodeficiency (CVID) is the most prevalent symptomatic type of human primary immunodeficiency diseases (PID). Clinically, CVID is characterized by increased susceptibility to infections and a wide variety of autoimmune and rheumatologic disorders. All patients with CVID registered in Iranian PID Registry (IPIDR) were enrolled in this retrospective cohort study. We investigated the frequency of rheumatologic diseases and its association with immunological and clinical phenotypes in patients with CVID. A total of 227 patients with CVID were enrolled in this study. The prevalence of rheumatologic disorders was 10.1% with a higher frequency in women than men. Most common rheumatologic manifestations were juvenile idiopathic arthritis (JIA) and adult rheumatoid arthritis (RA) followed by juvenile spondyloarthritis (JSpA) and undifferentiated inflammatory arthritis (UIA). Septic arthritis in patients with CVID with a history of RA and JIA was higher than patients without rheumatologic complication. Patients with CVID with a history of autoimmunity (both rheumatologic and non-rheumatologic autoimmunity) had lower regulatory T cells counts in comparison with patients without autoimmune disorders. There was an association between defect in specific antibody responses and negative serologic test results in patients with rheumatologic manifestations. JIA, RA, JSpA and UIA are the most frequent rheumatologic disorders in patients with CVID. Due to antibody deficiency, serologic tests may be negative in these patients. Therefore, these conditions pose significant diagnostic and therapeutic challenges for immunologists and rheumatologists in charge of the care for these patients. © 2018 The Foundation for the Scandinavian Journal of Immunology.

  16. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2012-02-01

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  17. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2009-08-07

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome-common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  18. Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases

    Directory of Open Access Journals (Sweden)

    O. Jilkina

    2014-01-01

    Full Text Available In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID patients in Manitoba are T-cell-positive. Therefore it is likely that the TREC assay will not identify these infants. The goal of this study was to blindly and retrospectively perform TREC analysis in confirmed SCID patients using archived Guthrie cards. Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70 deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ deficiency. As a non-SCID patient group, 5 Primary Immunodeficiency Disease (PID patients were studied: 1 T-negative PID (cartilage-hair hypoplasia and 4 T-positive PID (2 common immune deficiency (CID, 1 Wiskott–Aldrich syndrome, and 1 X-linked lymphoproliferative disease. Both patient groups required hematopoietic stem cell transplantation. In addition, randomly-selected de-identified controls (n = 982 were tested. Results: all T-negative SCID and PID had zero TRECs. Low-TRECs were identified in 2 ZAP70 siblings, 1 CID patient as well as 5 preterm, 1 twin, and 4 de-identified controls. Conclusions: TREC method will identify T-negative SCID and T-negative PID. To identify other SCID babies, newborn screening in Manitoba must include supplemental targeted screening for ethnic-specific mutations.

  19. Pulmonary disease in patients with human immunodeficiency virus infection

    DEFF Research Database (Denmark)

    Lundgren, J D; Orholm, Marianne; Lundgren, B

    1989-01-01

    cause pulmonary disease alone or in combination. Bilateral interstitial infiltrates are the most frequent chest x-ray abnormality and are most frequently caused by infection with Pneumocystis carinii. Cytomegalovirus, Mycobacterium tuberculosis, nonspecific interstitial pneumonitis and pulmonary Kaposi......Pulmonary disease is the most important cause of morbidity and mortality in patients infected with human immunodeficiency virus (HIV). All parts of the hospital system are expected to be involved in the diagnosis and treatment of HIV infected patients in the coming years. Many different processes......'s sarcoma are the most important parts of the differential diagnosis. An aggressive approach to the diagnosis of pulmonary disease in this patient population is indicated in order to provide optimal care and assess new therapies....

  20. Intravenous Immunoglobulin in the Treatment of Primary Immunodeficiency Diseases.

    Science.gov (United States)

    De Ranieri, Deirdre; Fenny, Nana Sarkoah

    2017-01-01

    Intravenous immunoglobulin (IVIG) has been used as antibody replacement therapy in primary immunodeficiency diseases (PIDDs) for more than 50 years. Its role as a therapeutic agent has expanded over the past couple of decades as its anti-inflammatory and immune-modulatory mechanisms of action have been elucidated. It is now used "off-label" to treat other autoimmune diseases. This article focuses on the role of IVIG in the treatment of PIDDs characterized by absent or deficient antibody production. Replacement doses are given on a monthly basis in these conditions as a prophylactic measure to prevent acute and serious bacterial infections. [Pediatr Ann. 2017;46(1):e8-e12.]. Copyright 2017, SLACK Incorporated.

  1. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.

    OpenAIRE

    Volanakis, J E; Zhu, Z B; Schaffer, F M; Macon, K J; Palermos, J; Barger, B O; Go, R; Campbell, R D; Schroeder, H W; Cooper, M D

    1992-01-01

    We have proposed that significant subsets of individuals with IgA deficiency (IgA-D) and common variable immunodeficiency (CVID) may represent polar ends of a clinical spectrum reflecting a single underlying genetic defect. This proposal was supported by our finding that individuals with these immunodeficiencies have in common a high incidence of C4A gene deletions and C2 rare gene alleles. Here we present our analysis of the MHC haplotypes of 12 IgA-D and 19 CVID individuals from 21 families...

  2. Renal disease in cats infected with feline immunodeficiency virus.

    Science.gov (United States)

    Baxter, K J; Levy, J K; Edinboro, C H; Vaden, S L; Tompkins, M B

    2012-01-01

    Feline immunodeficiency virus (FIV) and human immunodeficiency virus (HIV) infection cause similar clinical syndromes of immune dysregulation, opportunistic infections, inflammatory diseases, and neoplasia. Renal disease is the 4th most common cause of death associated with HIV infection. To investigate the association between FIV infection and renal disease in cats. Client-owned cats (153 FIV-infected, 306 FIV-noninfected) and specific-pathogen-free (SPF) research colony cats (95 FIV-infected, 98 FIV-noninfected). A mixed retrospective/prospective cross-sectional study. Blood urea nitrogen (BUN), serum creatinine, urine specific gravity (USG), and urine protein:creatinine ratio (UPC) data were compared between FIV-infected and FIV-noninfected cats. In FIV-infected cats, total CD4+ and CD8+ T lymphocytes were measured using flow cytometry, and CD4+:CD8+ T lymphocyte ratio was calculated. Renal azotemia was defined as a serum creatinine ≥ 1.9 mg/dL with USG ≤ 1.035. Proteinuria was defined as a UPC > 0.4 with an inactive urine sediment. Among the client-owned cats, no association was detected between FIV infection and renal azotemia (P = .24); however, a greater proportion of FIV-infected cats were proteinuric (25.0%, 16 of 64 cats) compared to FIV-noninfected cats (10.3%, 20 of 195 cats) (P < .01). Neither neuter status nor health status were risk factors for proteinuria in FIV-infected cats, but UPC was positively correlated with the CD4+:CD8+ T lymphocyte ratio (Spearman's rho = 0.37, P = .01). Among the SPF research colony cats, no association was detected between FIV infection and renal azotemia (P = .21) or proteinuria (P = .25). Proteinuria but not azotemia was associated with natural FIV infection. Copyright © 2012 by the American College of Veterinary Internal Medicine.

  3. Use of intravenous immunoglobulin in pregnancy. Report of a patient with common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Julio César Cambray-Gutiérrez

    2016-08-01

    Full Text Available Background: Common variable immunodeficiency is the most commonly-diagnosed primary immunodeficiency in adults; it is characterized by recurrent sinopulmonary and gastrointestinal infections, and increased incidence of malignancy and autoimmune processes. Many patients begin to have clinical manifestations during reproductive age. Case report: A 34-year-old woman with 12 weeks of gestation who was diagnosed with common variable immunodeficiency after recurrent episodes of rhinosinusitis, pharyngoamygdalitis, and pneumonia. 0.6 g/kg of IVIG was prescribed every 21 days during the second trimester; the patient only presented one episode of pharyngoamygdalitis, with adequate response to treatment with antibiotics. During the third trimester the dose was adjusted to every 14 days. The patient ended the pregnancy at term without complications, with a child without defects and with proper weight and size. Conclusions: The administration of immunoglobulin is the main treatment to control common variable immunodeficiency. While the recommended starting dose is 400-800 mg/kg intravenously every 3 to 4 weeks, there is no consensus on the dose to be used in pregnant women. The recommendation is to perform serum level controls before infusion to determine and adjust it.

  4. Global Considerations in Human Immunodeficiency Virus-Associated Respiratory Disease.

    Science.gov (United States)

    Rylance, Jamie; Meghji, Jamilah; Miller, Robert F; Ferrand, Rashida A

    2016-04-01

    Respiratory tract infection, particularly tuberculosis, is a major cause of mortality among human immunodeficiency virus (HIV)-infected individuals. Antiretroviral therapy (ART) has resulted in a dramatic increase in survival, although coverage of HIV treatment remains low in many parts of the world. There is a concurrent growing burden of chronic noninfectious respiratory disease as a result of increased survival. Many risk factors associated with the development of respiratory disease, such as cigarette smoking and intravenous drug use, are overrepresented among people living with HIV. In addition, there is emerging evidence that HIV infection may directly cause or accelerate the course of chronic lung disease. This review summarizes the clinical spectrum and epidemiology of respiratory tract infections and noninfectious pulmonary pathologies, and factors that explain the global variation in HIV-associated respiratory disease. The potential for enhancing diagnoses of noninfective chronic conditions through the use of clinical algorithms is discussed. We also consider issues in assessment and management of HIV-related respiratory disease in view of the increasing global scale up of ART. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. Disseminated bacillus calmette guerin disease in a twin infant with severe combined immunodeficiency disease

    Directory of Open Access Journals (Sweden)

    Hema Mittal

    2014-01-01

    Full Text Available Fatal-disseminated Bacillus Calmette Guerin (BCG disease is well known in infants with severe combined immunodeficiency after BCG vaccination. We report a 7 month male infant delivered as a product of in vitro fertilization and twin gestation that presented with fever, cough and multiple nodular skin lesions. A biopsy of skin lesions revealed the presence of acid fast bacilli. Mycobacterium bovis infection was confirmed by polymerase chain reaction (PCR and molecular studies. Immunological profile confirmed the diagnosis of severe combined immunodeficiency. Only few reports of similar case exist in the literature.

  6. Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

    Directory of Open Access Journals (Sweden)

    Guillem de Valles-Ibáñez

    2018-05-01

    Full Text Available Common variable immunodeficiency (CVID is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases. We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. Our results also identify five causative genetic variants in LRBA, CTLA4, NFKB1, and PIK3R1, as well as other very likely causative variants in PRKCD, MAPK8, or DOCK8 among others. We experimentally validate the effect of the LRBA stop-gain mutation which abolishes protein production and downregulates the expression of CTLA4, and of the frameshift indel in CTLA4 producing expression downregulation of the protein. Our results indicate a monogenic origin of at least 15–24% of the CVID cases included in the study. The proportion of monogenic patients seems to be lower in CVID than in other PID that have also been analyzed by whole exome or targeted gene panels sequencing. Regardless of the exact proportion of CVID monogenic cases, other genetic models have to be considered for CVID. We propose that because of its prevalence and other features as intermediate penetrancies and phenotypic variation within families, CVID could fit with other more complex genetic scenarios. In particular, in this work, we explore the possibility of CVID being originated by an oligogenic model with the presence of heterozygous mutations in interacting proteins or by the accumulation of detrimental variants in particular immunological pathways, as well as

  7. Long-term follow-up on affinity maturation and memory B-cell generation in patients with common variable immunodeficiency

    DEFF Research Database (Denmark)

    Ballegaard, Vibe Cecilie Diederich; Permin, H; Katzenstein, T L

    2013-01-01

    Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary immunodeficiency disorders. Immunophenotyping of memory B cells at the time of diagnosis is increasingly used for the classification of patients into subgroups with different clinical prognoses. The EUROclass...

  8. Management of common variable immunodeficiency by subcutaneous IgG self-administration during pregnancy - a case report.

    Science.gov (United States)

    Marasco, Carolina; Venturelli, Alberta; Rao, Luigia; Vacca, Angelo; Carratù, Maria Rosaria

    2017-08-01

    Patients with common variable immunodeficiency are prone to infections, and this poses a particular challenge during pregnancy, when the requirement for immunoglobulin (Ig) replacement therapy is even more demanding so as to achieve an effective protection also of the fetus. This case report highlights the benefits observed with subcutaneous IgG self-administration in the management of common variable immunodeficiency (CVID) during pregnancy, in terms of efficacy and safety.

  9. [Sensitivity of patients to immunomodulators in immunodeficiency diseases].

    Science.gov (United States)

    Stasenko, A A; Zhulaĭ, V V; Novopol'tseva, I Iu; Dontsova, L S; Zaiats, N V; Negievich, V I

    2014-08-01

    There were examined 198 patients, in whom immunodeficient (inflammatory, infectious and viral) diseases were revealed, as well as 10 healthy persons--for investigation of sensitivity of the blood neutrophils to immunomodulators (timalin, immunofan, polyoxidonium, timogen, erbisol). Most active one, in accordance to the investigation data, have evolved a synthetic preparation polyoxidonium, action mechanism of which is caused by direct activating impact on phagocytosis. Absence of sensitivity of the blood neutrophils towards activating stimuli (immunomodulators) in some patients was caused by a phenomenon, according to which the blood neutrophils, persisting durably in a preactivated state, further (while examining of the patients) have a reduced capacity for answering to stimulation. Such factors, as persisting in organism components of cellular wall of microorganisms or viruses, as well as antiinflammatory citokines, which are secreted in answer to the infectious agent introduction, are altogether promote the blood neutrophils preactivated state persistence. In patients, suffering viral infections, the blood neutrophils are mostly sensitive to immunofan and timalin. Immunologic preparations must be selected individually, taking into account the data of tests for sensitivity.

  10. Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis?

    Science.gov (United States)

    Azarsız, Elif; Karaca, Neslihan; Levent, Erturk; Kutukculer, Necil; Sozmen, Eser

    2017-11-01

    Background Common variable immunodeficiency is a rare clinically symptomatic primary immunodeficiency disorder which manifests a wide variability of symptoms, complications. Atherosclerosis in common variable immunodeficiency patients has not been investigated yet contrary to other severe clinical complications. We aimed to investigate the chitotriosidase enzyme's role as an inflammation and atherosclerosis marker in paediatric common variable immunodeficiency patients. Methods Common variable immunodeficiency patients (n = 24) and healthy controls (n = 23) evaluated for chitotriosidase activity with other inflammation markers (hsCRP, myeloperoxidase, serum amyloid A, ferritin), lipid profile and echocardiographic findings (carotid artery intima media thickness - cIMT, brachial artery flow-mediated vazodilatation - FMD%). Results In patients, the mean chitotriosidase activity (8.98 ± 6.28) was significantly higher than the controls (5.17 ± 3.42) ( P = 0.014). Chitotriosidase showed positive relation with hs-CRP ( P = 0.011) and SAA ( P = 0.011) but had no relation with ferritin ( P = 0.155), HDL ( P = 0.152) or LDL-cholesterol ( P = 0.380). Mean cIMT increased in patients compared with the controls ( P variable immunodeficiency patients demonstrated in vivo the presence of activated macrophages indicating ongoing inflammation. Echocardiographic diastolic functional deficiency, increased cIMT and decreased FMD% may be accepted as early atherosclerotic findings, but none of them showed relationship with chitotriosidase activities.

  11. Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Sílvia Bacalhau

    2011-01-01

    Full Text Available In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID who developed disseminated BCG disease, highlighting the specific strategies adopted.

  12. Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

    OpenAIRE

    Bacalhau, S; Freitas, C; Valente, R; Barata, D; Neves, C; Schäfer, K; Lubatschofski, A; Schulz, A; Farela Neves, J

    2011-01-01

    In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID) who developed disseminated BCG disease, highligh...

  13. Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs

    Directory of Open Access Journals (Sweden)

    Wen-I Lee

    2011-12-01

    Full Text Available Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis, Bacille Calmette-Guérin (BCG or nontuberculous mycobacteria (NTM, and/or Salmonella species, relies on the functional IL-12/23-IFN-γ integrity of macrophages (monocyte/dendritic cell connecting to T lymphocyte/NK cells. Patients with severe forms of primary immunodeficiency diseases (PIDs have more profound immune defects involving this impaired circuit in patients with severe combined immunodeficiencies (SCID including complete DiGeorge syndrome, X-linked hyper IgM syndrome (HIGM (CD40L mutation, CD40 deficiency, immunodeficiency with or without anhidrotic ectodermal dysplasia (NEMO and IKBA mutations, chronic granulomatous disease (CGD and hyper IgE recurrent infection syndromes (HIES. The patients with severe PIDs have broader diverse infections rather than mycobacterial infections. In contrast, patients with an isolated inborn error of the IL-12/23-IFN-γ pathway are exclusively prone to low-virulence mycobacterial infections and nontyphoid salmonella infections, known as Mendelian susceptibility to the mycobacterial disease (MSMD phenotype. Restricted defective molecules in the circuit, including IFN-γR1, IFN-γR2, IL-12p40, IL-12R-β1, STAT-1, NEMO, IKBA and the recently discovered CYBB responsible for autophagocytic vacuole and proteolysis, and interferon regulatory factor 8 (IRF8 for dendritic cell immunodeficiency, have been identified in around 60% of patients with the MSMD phenotype. Among all of the patients with PIDs referred for investigation since 1985, we have identified four cases with the specific defect (IFNRG1 for three and IL12RB for one, presenting as both BCG-induced diseases and NTM infections, in addition to some patients with SCID, HIGM, CGD and HIES. Furthermore, manifestations in patients with autoantibodies to IFN-γ (autoAbs-IFN-γ, which is categorized as an anticytokine autoantibody syndrome, can resemble the relatively

  14. Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency.

    Science.gov (United States)

    Bertinchamp, Rémi; Gérard, Laurence; Boutboul, David; Malphettes, Marion; Fieschi, Claire; Oksenhendler, Eric

    In 2014, the European Society for Immune Deficiencies (ESID) revised the common variable immunodeficiency (CVID) diagnosis criteria by incorporating new clinical and biological markers. The new definition appeared more restrictive but had not yet been evaluated in a large cohort of patients. The objective of this study was to evaluate the impact of this new definition in a large cohort of patients with primary hypogammaglobulinemia. Evaluation of 3 different CVID definitions (ESID/Pan-American Group for Immunodeficiency [PAGID] 1999, ESID 2014, DEFI 2015) in 521 patients included in the French DEFI study with a diagnosis of primary hypogammaglobulinemia. Using the ESID/PAGID 1999 definition, 351 patients were classified as CVID. The new ESID 2014 definition excluded 62 (18%) patients. Most of them (n = 56; 90%) had a less severe disease, whereas 6 (10%) presented with a severe disease with major T-cell defect. We propose different criteria (occurrence of opportunistic infection or very low naive CD4+ T-cell count) to define this population with severe T-cell defect. Sixty-two patients fulfilled these criteria, represented 20% of the initial CVID population but accounted for 77% of the deaths, with a 5-year overall survival of 67.6% (95% confidence interval, 51.0-79.6), and were considered as late onset combined immunodeficiency (LOCID). The new ESID definition for CVID still fails to exclude a large number of patients with severe T-cell defect. We propose a new definition (DEFI 2015) that excluded more patients with a T-cell defect and consider these patients as LOCID. This population has a poor outcome and should be considered as a distinct group requiring specific care. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  15. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.

    Science.gov (United States)

    Guffroy, Aurélien; Mourot-Cottet, Rachel; Gérard, Laurence; Gies, Vincent; Lagresle, Chantal; Pouliet, Aurore; Nitschké, Patrick; Hanein, Sylvain; Bienvenu, Boris; Chanet, Valérie; Donadieu, Jean; Gardembas, Martine; Karmochkine, Marina; Nove-Josserand, Raphaele; Martin, Thierry; Poindron, Vincent; Soulas-Sprauel, Pauline; Rieux-Laucat, Fréderic; Fieschi, Claire; Oksenhendler, Eric; André-Schmutz, Isabelle; Korganow, Anne-Sophie

    2017-10-01

    Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID. The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed. Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*10 6 /L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31.3 vs 3.4%, P < 0.05). Neutropenia was diagnosed for 10 patients before 22 years old. The most frequent symptoms, except infections, were autoimmune cytopenia, i.e., thrombopenia or anemia (11/16). Ten patients were affected with lymphoproliferative diseases. Two patients were in the infection only group and the others belonged to one or several other CVID groups. The median level of IgG was 2.6 g/L [0.35-4.4]. Most patients presented increased numbers of CD21 low CD38 low B cell, as already described in CVID autoimmune cytopenia group. Neutropenia was considered autoimmune in 11 cases. NGS for 52 genes of interest was performed on 8 patients. No deleterious mutations were found in LRBA, CTLA4, and PIK3. More than one potentially damaging variant in other genes associated with CVID were present in most patients arguing for a multigene process. Neutropenia is generally associated with another cytopenia and presumably of autoimmune origin during CVID. In the DEFI study, neutropenia is coupled with more severe clinical outcomes. It appears as an "alarm bell" considering patients' presentation and the high rate of deaths. Whole exome sequencing diagnosis should improve management.

  16. Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.

    Science.gov (United States)

    Levy, Y; Gupta, N; Le Deist, F; Garcia, C; Fischer, A; Weill, J C; Reynaud, C A

    1998-10-27

    Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.

  17. Phenotype Variation in Human Immunodeficiency virus Type 1 Transmission and Disease Progression

    Directory of Open Access Journals (Sweden)

    Mariangela Cavarelli

    2009-01-01

    Full Text Available Human immunodeficiency virus type I (HIV-1 infects target cells through interaction with the CD4 molecule and chemokine receptors, mainly CCR5 and CXCR4. Viral isolates can be phenotypically classified based on the co-receptor they utilize to infect target cells. Thus, R5 and X4 virus use respectively CCR5 and CXCR4, whereas R5X4 virus can use either CCR5 or CXCR4. This review describes the central role played by co-receptor expression and usage for HIV-1 cell tropism, transmission and pathogenesis. We discuss various hypotheses proposed to explain the preferential transmission of R5 viruses and the mechanisms driving the change of HIV-1 co-receptor usage in the course of infection. Recent insights in the intrinsic variability of R5 viruses and their role in influencing disease progression in both adults and children are also discussed.

  18. Phenotype variation in human immunodeficiency virus type 1 transmission and disease progression.

    Science.gov (United States)

    Cavarelli, Mariangela; Scarlatti, Gabriella

    2009-01-01

    Human immunodeficiency virus type I (HIV-1) infects target cells through interaction with the CD4 molecule and chemokine receptors, mainly CCR5 and CXCR4. Viral isolates can be phenotypically classified based on the co-receptor they utilize to infect target cells. Thus, R5 and X4 virus use respectively CCR5 and CXCR4, whereas R5X4 virus can use either CCR5 or CXCR4. This review describes the central role played by co-receptor expression and usage for HIV-1 cell tropism, transmission and pathogenesis. We discuss various hypotheses proposed to explain the preferential transmission of R5 viruses and the mechanisms driving the change of HIV-1 co-receptor usage in the course of infection. Recent insights in the intrinsic variability of R5 viruses and their role in influencing disease progression in both adults and children are also discussed.

  19. Effective treatment of common variable immunodeficiency associated diarrhea Diarrea asociada a inmunodeficiencia común variable tratada con budesonida

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    H. Córdova Guevara

    2009-03-01

    Full Text Available Common variable immunodeficiency disorder (CVID, the commonest symptomatic primary antibody deficiency syndrome, is characterised by recurrent bacterial infections, particularly of the upper and lower airways; it is also associated with an increased incidence of autoimmune and neoplastic disorders. CVID has a high prevalence of infectious, inflammatory and neoplastic gastrointestinal diseases. Up to 60% of the patients with non-treated CVID develop diarrhea and 10% associated idiopathic malabsorption with weight loss. The case of a 50-year-old woman with CVID-associated diarrhea, abdominal pain and bloating of one year's duration is reported. An exhaustive evaluation made for secondary causes of her symptoms was unrevealing; she was treated with loperamide and diet, without improvement. She later followed a course of oral budesonide for 3 months; her clinical symptoms disappeared and her quality of life improved. In conclusion, we report the case of a patient with CVID-related chronic diarrhea who responded well to oral budesonide treatment. This outcome provides the gastroenterologist with a new therapeutic option in this difficult group of patients.La inmunodeficiencia común variable (IDCV es la deficiencia primaria de anticuerpos sintomática más frecuente y está caracterizada por infecciones bacterianas recurrentes, especialmente de las vías aéreas superiores e inferiores, y también asociada a incremento de enfermedades autoinmunes y neoplasias. Presenta alta prevalencia de enfermedades gastrointestinales infecciosas, inflamatorias y neoplásicas. Hasta el 60% de los pacientes con IDCV no tratados desarrollan diarrea y el 10% desarrollan malabsorción idiopática asociado a pérdida de peso. Presentamos el caso de una mujer de 50 años con IDCV que presenta diarrea crónica, con dolor y distensión abdominal desde hace 1 año. Realizándose múltiples exploraciones y descartando causas secundarias de diarrea crónica, se inicia

  20. Rapidly progressive periodontal disease associated with human immunodeficiency virus

    International Nuclear Information System (INIS)

    Hezaim, K.A.; Javed, F.; Askar, A.; Rasheed, A.A.

    2012-01-01

    Severe periodontal inflammation with generalized dental plaque accumulation, spontaneous and severe gingival bleeding, fungal infection, and inter dental papillae necrosis are presented in a patient infected with human immunodeficiency virus (HIV). Bite-wing radiographs revealed a generalized horizontal alveolar bone loss of 7-8 millimetres in both arches. Erythematous patches were noted on the gingival mucosa in both jaws. DNA testing was performed to identify the periodontopathogens. The patient had no signs or symptoms of acquired immunodeficiency syndrome. This case-report presents the massive periodontal destruction that occurred in a patient infected with HIV. Therefore, it is highly recommended that patients infected with HIV should be regularly monitored to aid in early detection and to provide proper management of periodontal inflammatory conditions to minimize its destruction. (author)

  1. Is Graves' disease a primary immunodeficiency? New immunological perspectives on an endocrine disease.

    Science.gov (United States)

    Struja, Tristan; Kutz, Alexander; Fischli, Stefan; Meier, Christian; Mueller, Beat; Recher, Mike; Schuetz, Philipp

    2017-09-25

    Uncertainty about factors influencing the susceptibility and triggers for Graves' disease persists, along with a wide variation in the response to anti-thyroid drugs, currently at approximately 50% of non-responders. The aim of this narrative review is to summarize immunological concepts, with a combined endocrine and immunological perspective, to highlight potential new areas of research. Relevant studies were identified through a systematic literature search using the PubMed and EMBASE databases in March 2016. No cut-offs regarding dates were imposed. We used the terms "Graves' Disease" or "Basedow" or "thyrotoxicosis" together with the terms "etiology", "pathophysiology", "immunodeficiency", "causality", and "autoimmunity". The terms "orbitopathy", "ophthalmopathy", and "amiodarone" were excluded. Articles in English, French, German, Croatian, Spanish, and Italian were eligible for inclusion. While concepts such as the impact of iodine, smoking, human leucocyte antigen, infections, and ethnicity are established, new ideas have emerged. Pertaining evidence suggests the involvement of autoimmunity and immunodeficiency in the pathophysiology of Graves' disease. Recent studies point to specific immunological mechanisms triggering the onset of disease, which may also serve as targets for more specific therapies.

  2. Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment.

    Science.gov (United States)

    Rider, Nicholas L; Kutac, Carleigh; Hajjar, Joud; Scalchunes, Chris; Seeborg, Filiz O; Boyle, Marcia; Orange, Jordan S

    2017-07-01

    Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment. A 75-question survey developed by the IDF and a 12-item Short Form Health Survey (SF-12) to assess QOL were mailed to adults with CVID. Mean SF-12 scores were compared between patients with CVID and the general US adult population normative sample. Overall, 945 patients with CVID completed the surveys. More than half of the patients (54.9%) received intravenous Ig and 44.9% received subcutaneous Ig treatment. Patients with CVID had significantly lower SF-12 scores compared with the general US population regardless of sex or age (p < 0.05). Route of IgG replacement did not dramatically improve QOL. SF-12 scores were highest in patients with CVID who have well-controlled PIDD, lacked physical impairments, were not bothered by treatment, and received Ig infusions at home. These data provide insight into what factors are most associated with physical and mental health, which can serve to improve QOL in patients in this population. Improvements in QOL can result from early detection of disease, limiting digestive system disease, attention to fatigue, and implementation of an individual treatment plan for the patient.

  3. Variable epitope libraries: new vaccine immunogens capable of inducing broad human immunodeficiency virus type 1-neutralizing antibody response.

    Science.gov (United States)

    Charles-Niño, Claudia; Pedroza-Roldan, Cesar; Viveros, Monica; Gevorkian, Goar; Manoutcharian, Karen

    2011-07-18

    The extreme antigenic variability of human immunodeficiency virus (HIV) leads to immune escape of the virus, representing a major challenge in the design of effective vaccine. We have developed a novel concept for immunogen construction based on introduction of massive mutations within the epitopes targeting antigenically variable pathogens and diseases. Previously, we showed that these immunogens carrying large combinatorial libraries of mutated epitope variants, termed as variable epitope libraries (VELs), induce potent, broad and long lasting CD8+IFN-γ+ T-cell response. Moreover, we demonstrated that these T cells recognize more than 50% of heavily mutated variants (5 out of 10 amino acid positions were mutated in each epitope variant) of HIV-1 gp120 V3 loop-derived cytotoxic T lymphocyte epitope (RGPGRAFVTI) in mice. The constructed VELs had complexities of 10000 and 12500 individual members, generated as plasmid DNA or as M13 phage display combinatorial libraries, respectively, and with structural composition RGPGXAXXXX or XGXGXAXVXI, where X is any of 20 natural amino acids. Here, we demonstrated that sera from mice immunized with these VELs are capable of neutralizing 5 out of 10 viral isolates from Tier 2 reference panel of subtype B envelope clones, including HIV-1 isolates which are known to be resistant to neutralization by several potent monoclonal antibodies, described previously. These data indicate the feasibility of the application of immunogens based on VEL concept as an alternative approach for the development of molecular vaccines against antigenically variable pathogens. Copyright © 2011 Elsevier Ltd. All rights reserved.

  4. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients

    Science.gov (United States)

    Wong, G K; Goldacker, S; Winterhalter, C; Grimbacher, B; Chapel, H; Lucas, M; Alecsandru, D; McEwen, D; Quinti, I; Martini, H; Schmidt, R E; Ernst, D; Espanol, T; Vidaller, A; Carbone, J; Fernandez-Cruz, E; Lougaris, V; Plebani, A; Kutukculer, N; Gonzalez-Granado, L I; Contreras, R; Kiani-Alikhan, S; Ibrahim, M A A; Litzman, J; Jones, A; Gaspar, H B; Hammarstrom, L; Baumann, U; Warnatz, K; Huissoon, A P

    2013-01-01

    Splenectomy has been used in patients with common variable immunodeficiency disorders (CVID), mainly in the context of refractory autoimmune cytopenia and suspected lymphoma, but there are understandable concerns about the potential of compounding an existing immunodeficiency. With increasing use of rituximab as an alternative treatment for refractory autoimmune cytopenia, the role of splenectomy in CVID needs to be re-examined. This retrospective study provides the largest cohesive data set to date describing the outcome of splenectomy in 45 CVID patients in the past 40 years. Splenectomy proved to be an effective long-term treatment in 75% of CVID patients with autoimmune cytopenia, even in some cases when rituximab had failed. Splenectomy does not worsen mortality in CVID and adequate immunoglobulin replacement therapy appears to play a protective role in overwhelming post-splenectomy infections. Future trials comparing the effectiveness and safety of rituximab and splenectomy are needed to provide clearer guidance on the second-line management of autoimmune cytopenia in CVID. PMID:23480186

  5. The clinical immunological and long-term follow-up of pediatric patients with common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Abdollahzade S

    2011-01-01

    Full Text Available "n 800x600 Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman","serif";} Background: Common Variable Immunodeficiency (CVID is a primary immunodeficiency disease, characterized by hypogammaglobulinemia and heterogeneous clinical manifestations. This study was performed to evaluate the clinical and immunological features of pediatric patients with CVID. "n"nMethods: We reviewed the records of 69 children diagnosed under age of 16 years with CVID (35 males and 34 females."n"nResults: By the year 2008, 15 patients (21% had died. The total follow-up period was 333 patient-years. The mean diagnostic time between onset and diagnosis in our patient group was 4.40 years. The overall rate of consanguineous marriages was 58%. 10 patients had a positive family history of immunodeficiency. At the time of diagnosis, the mean levels of serum immunoglobulin G (IgG, IgM, and IgA levels were 286.86, 39.92, and 18.39 mg/dl, respectively which were below the normal levels for age. All of the patients presented with infectious diseases at the time of onset, the most common of which were pneumonia, diarrhea and sinusitis. Acute and recurrent infections were also found in almost all of the patients, particularly involving respiratory and gastrointestinal systems. The most common infections during follow-up period were pneumonia (31.9%, acute diarrhea (18.8%, acute sinusitis (18.8%, and otitis media (14.5%. Post-diagnosis survival was estimated to be 79% during the first five years. The survival rate was not shown to be influenced by delayed diagnosis, serum levels of IgG and B

  6. Management of a rare presentation of Vogt-Koyanagi-Harada disease in human immunodeficiency virus/acquired immunodeficiency disease syndrome patient.

    Science.gov (United States)

    Priya, D; Sudharshan, S; Biswas, Jyotirmay

    2017-05-01

    Vogt-Koyanagi-Harada (VKH), a multisystem autoimmune bilateral panuveitis with systemic manifestations, is uncommon in immunocompromised patients such as human immunodeficiency virus (HIV)/acquired immunodeficiency disease syndrome (AIDS). We report a rare presentation of VKH in a 45-year-old HIV-positive female on highly active antiretroviral therapy (HAART) who presented with a history of recurrent panuveitis. A diagnosis of probable VKH was made based on ocular and systemic signs and symptoms. She was treated with topical and systemic steroids with close monitoring of CD4 counts and viral loads. After inflammation control, complicated cataract was managed surgically under perioperative steroid cover. VKH in HIV/AIDS has not been reported earlier. This case shows that significant inflammation can be seen even in HIV/AIDS patients on HAART with VKH in spite of moderate CD4 counts. Management is a challenge considering the systemic risks with long-term use of steroids.

  7. Analysis of the sputum and inflammatory alterations of the airways in patients with common variable immunodeficiency and bronchiectasis

    Directory of Open Access Journals (Sweden)

    Andrea Cristina Pereira

    2009-01-01

    Full Text Available INTRODUCTION: Common variable immunodeficiency is characterized by defective antibody production and recurrent pulmonary infections. Intravenous immunoglobulin is the treatment of choice, but the effects of Intravenous immunoglobulin on pulmonary defense mechanisms are poorly understood. OBJECTIVE: The aim of this study was to verify the impact of intravenous immunoglobulin on the physical properties of the sputum and on inflammatory alterations in the airways of patients with Common variable immunodeficiency associated with bronchiectasis. METHOD: The present study analyzed sputum physical properties, exhaled NO, inflammatory cells in the sputum, and IG titers in 7 patients with Common variable immunodeficiency and bronchiectasis with secretion, immediately before and 15 days after Intravenous immunoglobulin. A group of 6 patients with Common variable immunodeficiency and bronchiectasis but no sputum was also studied for comparison of the basal IgG level and blood count. The 13 patients were young (age=36±17 years and comprised predominantly of females (n=11. RESULTS: Patients with secretion presented significantly decreased IgG and IgM levels. Intravenous immunoglobulin was associated with a significant decrease in exhaled NO (54.7 vs. 40.1 ppb, p<0.05, sputum inflammatory cell counts (28.7 vs. 14.6 cells/mm³, p<0.05, and a significant increase in respiratory mucus transportability by cough (42.5 vs. 65.0 mm, p < 0.05. CONCLUSION: We concluded that immunoglobulin administration in Common variable immunodeficiency patients results in significant improvement in indexes of inflammation of the airways with improvement in the transportability of the respiratory mucus by cough.

  8. Feline immunodeficiency virus: disease association versus causation in domestic and nondomestic felids.

    Science.gov (United States)

    White, Joanna; Stickney, Alison; Norris, Jacqueline M

    2011-11-01

    Feline immunodeficiency virus (FIV) is an important infection in both domestic and nondomestic cats. Although many studies have provided insight into FIV pathophysiology and immunologic responses to infection in cats, questions remain regarding the association of FIV with specific disease syndromes. For many diseases, both association and causation of disease with FIV remain to be confirmed and clarified. The use of experimental infection models is unlikely to yield answers about naturally infected domestic cats and is not feasible in nondomestic felids, many of which are endangered species. Researches might consider further study of naturally occurring disease with an emphasis on confirming which diseases have a likely association with FIV.

  9. Primary immunodeficiency disease: a model for case management of chronic diseases.

    Science.gov (United States)

    Burton, Janet; Murphy, Elyse; Riley, Patty

    2010-01-01

    Patient-centered chronic care management is a new model for the management of rare chronic diseases such as primary immunodeficiency disease (PIDD). This approach emphasizes helping patients become experts on the management of their disease as informed, involved, and interactive partners in healthcare decisions with providers. Because only a few patients are affected by rare illnesses, these patients are forced to become knowledgeable about their disease and therapies and to seek treatment from a healthcare team, which includes physicians and nurse specialists who are equipped to manage the complexity of the disease and its comorbidities. Importantly, therapy for PIDD can be self-administered at home, which has encouraged the transition toward a proactive stance that is at the heart of patient-centered chronic care management. We discuss the evolution of therapy, the issues with the disease, and challenges with its management within the framework of other chronic disease management programs. Suggestions and rationale to move case management of PIDD forward are presented with the intent that sharing our experiences will improve process and better manage outcomes in this patient population. The patient-centered model for the management of PIDD is applicable to the primary care settings, where nurse case managers assist patients through education, support them and their families, and facilitate access to community resources in an approach, which has been described as "guided care." The model also applies specifically to immunology centers where patients receive treatment or instruction on its self-administration at home. Patient-centered management of PIDD, with its emphasis on full involvement of patients in their treatment, has the potential to improve compliance with treatment, and thus patient outcomes, as well as patients' quality of life. The patient-centered model expands the traditional model of chronic disease management, which relies on evidence

  10. Adverse Effects with Ambulatory Intravenous Immunoglobulin Administration in Adult Patients with Common Variable Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Karen Alicia Rodríguez-Mireles

    2014-06-01

    Full Text Available Background: Common variable immunode ciency (CVID is the most frequent symptomatic primary immunodeficiency, affecting 1:25,000- 75,000 people. It is characterized by the absence or decrease antibody production. Treatment for CVID consists on human immunoglobulin administration, and the intravenous route is the most common route for administration, at 400-800 mg/kg of weight every 3-4 weeks. Adverse effects associated with intravenous immunoglobulin (IVIg use occur in 25% of all infusions, with severe adverse reactions presenting in less than 1% of all patients. Acute renal failure can occur as a severe adverse reaction, which presents 1-10 days after starting IVIg treatment. In our center we implemented an ambulatory scheme for IVIg administration, which allows its administration in an average of 3 hours, without severe adverse effects. Objectives: To describe adverse effects and to evaluate the frequency of renal failure secondary to ambulatory IVIg administration in patients with common variable immunode ciency. Material and method: A descriptive and prospective study was done including adult patients con de nitive diagnosis of common variable immunodeficiency, receiving IVIg at replacement dose every 3 weeks. All patients were evaluated with clinical exploration, somatometry, serum creatinine, albumin and urea determination, 24 hours creatinine clearance, glomerular ltration rate with CKD-EPI, and immediate renal function associated with accumulated IVIg. Results were analyzed with descriptive statistics. Results: We determined adverse effects in 25 patients with common variable immunode ciency (15 women and 10 men, average age 36.7 years, during a 10 months period (January-September 2013. During this period 284 IVIg infusions were administered using our scheme, frequency of adverse effects were 12.9%, with 5.2% of early adverse effects and 7.7% late adverse effects, all being mild to moderate, in some cases required analgesic and

  11. Secondary renal amyloidosis in a patient of pulmonary tuberculosis and common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Balwani Manish R

    2015-04-01

    Full Text Available Common variable immunodeficiency (CVID usually manifests in the second or third decade of life with recurrent bacterial infections and hypoglobulinemia. Secondary renal amyloidosis with history of pulmonary tuberculosis is rare in CVID, although T cell dysfunction has been reported in few CVID patients. A 40-year-old male was admitted to our hospital with a 3-month history of recurrent respiratory infections and persistent pitting pedal edema. His past history revealed 3 to 5 episodes of recurrent respiratory tract infections and diarrhoea each year since last 20 years. He had been successfully treated for sputum positive pulmonary tuberculosis 8 years back. Laboratory studies disclosed high erythrocyte sedimentation rate (ESR, hypoalbuminemia and nephrotic range proteinuria. Serum immunoglobulin levels were low. CD4/CD8 ratio and CD3 level was normal. C3 and C4 complement levels were normal. Biopsy revealed amyloid A (AA positive secondary renal amyloidosis. Glomeruli showed variable widening of mesangial regions with deposition of periodic schiff stain (PAS pale positive of pink matrix showing apple green birefringence on Congo-red staining. Immunohistochemistry was AA stain positive. Immunofluorescence microscopy revealed no staining with anti-human IgG, IgM, IgA, C3, C1q, kappa and lambda light chains antisera. Patient was treated symptomatically for respiratory tract infection and was discharged with low dose angiotensin receptor blocker. An old treated tuberculosis and chronic inflammation due to recurrent respiratory tract infections were thought to be responsible for AA amyloidosis. Thus pulmonary tuberculosis should be considered in differential diagnosis of secondary causes of AA renal amyloidosis in patients of CVID especially in endemic settings.

  12. Risk of coronary artery disease in individuals infected with human immunodeficiency virus

    OpenAIRE

    Vilela, Felippe Dantas; Lorenzo, Andrea Rocha de; Tura, Bernardo Rangel; Ferraiuoli, Giovanna Ianini; Hadlich, Marcelo; Barros, Marcelo Viana de Lima; Lima, Ana Beatriz Ribeiro; Meirelles, Vanderson

    2011-01-01

    Current treatment for human immunodeficiency virus (HIV) infection has improved survival and allowed infected patients to develop atherosclerotic coronary artery disease (CAD). Specific strategies to reduce cardiovascular risk in the infected population have not been developed. It is necessary to know the magnitude of cardiovascular risk in this population. OBJECTIVES: This study aimed to assess cardiovascular risk using a well-known clinical score and to investigate coronary artery calcium s...

  13. A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency.

    Science.gov (United States)

    Jørgensen, Silje F; Reims, Henrik M; Frydenlund, Didrik; Holm, Kristian; Paulsen, Vemund; Michelsen, Annika E; Jørgensen, Kristin K; Osnes, Liv T; Bratlie, Jorunn; Eide, Tor J; Dahl, Christen P; Holter, Ellen; Tronstad, Rune R; Hanevik, Kurt; Brattbakk, Hans-Richard; Kaveh, Fatemeh; Fiskerstrand, Torunn; Kran, Anne-Marte B; Ueland, Thor; Karlsen, Tom H; Aukrust, Pål; Lundin, Knut E A; Fevang, Børre

    2016-10-01

    The objective of this study was to study the prevalence of gastrointestinal (GI) symptoms and histopathology in patients with common variable immunodeficiency (CVID) as well as linking the findings to GI infections and markers of systemic immune activation. In this cross-sectional study, we addressed GI symptoms in 103 patients and GI histopathological findings in 53 patients who underwent upper and lower endoscopic examination. The most frequent histopathological findings were linked to GI symptoms, B-cell phenotype, and markers of systemic immune activation (soluble (s)CD14, sCD25, and sCD163). Microarray analysis compared "celiac-like disease" in CVID to celiac disease. Screening for selected bacterial and viral infections in fecal samples and gut mucosal biopsies was performed. The main findings of this study were as follows: most common GI symptoms were bloating (34%), pain (30%), and diarrhea (26%). The most frequent histopathological findings were increased intraepithelial lymphocytes in the descending part of the duodenum, i.e., "celiac-like disease" (46% of patients), decreased numbers of plasma cells in GI tract mucosa (62%), and lymphoid hyperplasia (38%), none of which were associated with GI symptoms. Reduced plasma cells in GI mucosa were associated with B-cell phenotypic characteristics of CVID, and increased serum levels of sCD14 (P=0.025), sCD25 (P=0.01), and sCD163 (P=0.04). Microarray analyses distinguished between CVID patients with "celiac-like disease" and celiac disease. Positive tests for bacterial and viral infections were scarce both in fecal samples and gut mucosal biopsies, including PCR test for norovirus in biopsy specimens (0 positive tests). In conclusion, GI pathology is common in CVID, but does not necessarily cause symptoms. However, reduced plasma cells in GI mucosa were linked to systemic immune activation, "celiac-like disease" in CVID and true celiac disease appear to be different disease entities, as assessed by gene

  14. A New Face of Cardiac Emergencies: Human Immunodeficiency Virus-Related Cardiac Disease.

    Science.gov (United States)

    Tsabedze, Nqoba; Vachiat, Ahmed; Zachariah, Don; Manga, Pravin

    2018-02-01

    The human immunodeficiency virus epidemic is a major health challenge of the twenty-first century as the transition from infectious complications to noncommunicable disease becomes more evident. These patients may present to the emergency department with a variety of cardiovascular diseases, such as acute coronary syndromes, heart failure, pericardial disease, infective endocarditis, venothromboembolism, and other conditions. Increased awareness is needed among health care professionals to enhance adequate identification and promote prompt management of these patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help

    NARCIS (Netherlands)

    Compeer, E.B.; Janssen, Willemijn; van Royen-Kerkhof, A; van Gijn, Marielle; van Montfrans, JM; Boes, Marianne

    2015-01-01

    Common Variable Immunodeficiency (CVID) is the most prevalent primary antibody deficiency, and characterized by defective generation of high-affinity antibodies. Patients have therefore increased risk to recurrent infections of the respiratory and intestinal tract. Development of high-affinity

  16. Expression of activation-induced cytidine deaminase gene in B lymphocytes of patients with common variable immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Farrokhi, Amir Salek; Pourhamdi, Shabnam; Mohammadinejad, Payam; Sadeghi, Bamdad; Moazzeni, Seyed-Mohammad; Aghamohammadi, Asghar

    2013-08-01

    Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by reduced serum level of IgG, IgA or IgM and recurrent bacterial infections. Class switch recombination (CSR) as a critical process in immunoglobulin production is defective in a group of CVID patients. Activation-induced cytidine deaminase (AID) protein is an important molecule involving CSR process. The aim of this study was to investigate the AID gene mRNA production in a group of CVID patients indicating possible role of this molecule in this disorder. Peripheral blood mononuclear cells (PBMC) of 29 CVID patients and 21 healthy controls were isolated and stimulated by CD40L and IL-4 to induce AID gene expression. After 5 days AID gene mRNA production was investigated by real time polymerase chain reaction. AID gene was expressed in all of the studied patients. However the mean density of extracted AID mRNA showed higher level in CVID patients (230.95±103.04 ng/ml) rather than controls (210.00±44.72 ng/ml; P=0.5). CVID cases with lower level of AID had decreased total level of IgE (P=0.04) and stimulated IgE production (P=0.02); while cases with increased level of AID presented higher level of IgA (P=0.04) and numbers of B cells (P=0.02) and autoimmune disease (P=0.02). Different levels of AID gene expression may have important roles in dysregulation of immune system and final clinical presentation in CVID patients. Therefore investigating the expression of AID gene can help in classifying CVID patients.

  17. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

    Science.gov (United States)

    Li, Jin; Jørgensen, Silje F; Maggadottir, S Melkorka; Bakay, Marina; Warnatz, Klaus; Glessner, Joseph; Pandey, Rahul; Salzer, Ulrich; Schmidt, Reinhold E; Perez, Elena; Resnick, Elena; Goldacker, Sigune; Buchta, Mary; Witte, Torsten; Padyukov, Leonid; Videm, Vibeke; Folseraas, Trine; Atschekzei, Faranaz; Elder, James T; Nair, Rajan P; Winkelmann, Juliane; Gieger, Christian; Nöthen, Markus M; Büning, Carsten; Brand, Stephan; Sullivan, Kathleen E; Orange, Jordan S; Fevang, Børre; Schreiber, Stefan; Lieb, Wolfgang; Aukrust, Pål; Chapel, Helen; Cunningham-Rundles, Charlotte; Franke, Andre; Karlsen, Tom H; Grimbacher, Bodo; Hakonarson, Hakon; Hammarström, Lennart; Ellinghaus, Eva

    2015-04-20

    Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in CVID to date, we compare 778 CVID cases with 10,999 controls across 123,127 single-nucleotide polymorphisms (SNPs) on the Immunochip. We identify the first non-HLA genome-wide significant risk locus at CLEC16A (rs17806056, P=2.0 × 10(-9)) and confirm the previously reported human leukocyte antigen (HLA) associations on chromosome 6p21 (rs1049225, P=4.8 × 10(-16)). Clec16a knockdown (KD) mice showed reduced number of B cells and elevated IgM levels compared with controls, suggesting that CLEC16A may be involved in immune regulatory pathways of relevance to CVID. In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA associations in this immunodeficiency condition.

  18. Risk of coronary artery disease in individuals infected with human immunodeficiency virus.

    Science.gov (United States)

    Vilela, Felippe Dantas; Lorenzo, Andrea Rocha de; Tura, Bernardo Rangel; Ferraiuoli, Giovanna Ianini; Hadlich, Marcelo; Barros, Marcelo Viana de Lima; Lima, Ana Beatriz Ribeiro; Meirelles, Vanderson

    2011-01-01

    Current treatment for human immunodeficiency virus (HIV) infection has improved survival and allowed infected patients to develop atherosclerotic coronary artery disease (CAD). Specific strategies to reduce cardiovascular risk in the infected population have not been developed. It is necessary to know the magnitude of cardiovascular risk in this population. This study aimed to assess cardiovascular risk using a well-known clinical score and to investigate coronary artery calcium scoring (CACS) in this population. This was a cross-sectional study. Adults with HIV infection were studied. Demographic, clinical and anthropometric data, serum glucose and lipids were obtained. Cardiovascular risk was calculated through Framingham risk score (FRS) and CACS. Categorical variables were compared by Chi-square or Fisher's exact test, and continuous variables were analyzed by Student t test or Mann-Whitney test. An analysis of concordance between FRS and CACS was performed using kappa statistic. Forty patients, aged 45.9 ± 8.1 years, were studied. Age of risk for CAD were found in 30.0%, hypertension in 55.0%, diabetes in 10.0%, smoking in 35.0%, dyslipidemia in 67.5% and family history of CAD in 57.5%. Altered levels of total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides were found in 30.0%, 25.0% and 82.5%, respectively. HDL-cholesterol and triglycerides were altered more frequently among protease inhibitors users. The FRS classified the risk as low for 72.5%, moderate for 25.0%, and high for 2.5%. CACS > 0 was found in 32.5% of the patients, in 67.5% the score was low, in 17.5% moderate, and in 15.0% high. Concordance between FRS and CACS showed a kappa = 0.435. There is a high prevalence of risk factors for CAD in the studied population, with dyslipidemia being the most frequent. HDL-cholesterol and triglycerides were the most frequently altered factors and were associated with the use of protease inhibitors. Risk assessed by the FRS was low in most

  19. Risk of coronary artery disease in individuals infected with human immunodeficiency virus

    Directory of Open Access Journals (Sweden)

    Felippe Dantas Vilela

    Full Text Available Current treatment for human immunodeficiency virus (HIV infection has improved survival and allowed infected patients to develop atherosclerotic coronary artery disease (CAD. Specific strategies to reduce cardiovascular risk in the infected population have not been developed. It is necessary to know the magnitude of cardiovascular risk in this population. OBJECTIVES: This study aimed to assess cardiovascular risk using a well-known clinical score and to investigate coronary artery calcium scoring (CACS in this population. METHODS: This was a cross-sectional study. Adults with HIV infection were studied. Demographic, clinical and anthropometric data, serum glucose and lipids were obtained. Cardiovascular risk was calculated through Framingham risk score (FRS and CACS. Categorical variables were compared by Chi-square or Fisher's exact test, and continuous variables were analyzed by Student t test or Mann-Whitney test. An analysis of concordance between FRS and CACS was performed using kappa statistic. RESULTS: Forty patients, aged 45.9 ± 8.1 years, were studied. Age of risk for CAD were found in 30.0%, hypertension in 55.0%, diabetes in 10.0%, smoking in 35.0%, dyslipidemia in 67.5% and family history of CAD in 57.5%. Altered levels of total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides were found in 30.0%, 25.0% and 82.5%, respectively. HDL-cholesterol and triglycerides were altered more frequently among protease inhibitors users. The FRS classified the risk as low for 72.5%, moderate for 25.0%, and high for 2.5%. CACS > 0 was found in 32.5% of the patients, in 67.5% the score was low, in 17.5% moderate, and in 15.0% high. Concordance between FRS and CACS showed a kappa = 0.435. CONCLUSIONS: There is a high prevalence of risk factors for CAD in the studied population, with dyslipidemia being the most frequent. HDL-cholesterol and triglycerides were the most frequently altered factors and were associated with the use of

  20. Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases.

    Science.gov (United States)

    Parvaneh, Nima; Filipovich, Alexandra H; Borkhardt, Arndt

    2013-09-01

    Epstein-Barr virus (EBV), a ubiquitous human herpesvirus, maintains lifelong subclinical persistent infections in humans. In the circulation, EBV primarily infects the B cells, and protective immunity is mediated by EBV-specific cytotoxic T cells (CTLs) and natural killer (NK) cells. However, EBV has been linked to several devastating diseases, such as haemophagocytic lymphohistiocytosis (HLH) and lymphoproliferative diseases in the immunocompromised host. Some types of primary immunodeficiencies (PIDs) are characterized by the development of EBV-associated complications as their predominant clinical feature. The study of such genetic diseases presents an ideal opportunity for a better understanding of the biology of the immune responses against EBV. Here, we summarize the range of PIDs that are predisposed to EBV-associated haematological diseases, describing their clinical picture and pathogenetic mechanisms. © 2013 John Wiley & Sons Ltd.

  1. [Common variable immunodeficiency: Clinical and immunological characterization of patients and homogeneous subgroup definition by means of B lymphocyte subpopulation typing].

    Science.gov (United States)

    Vélez, Alejandra Catalina; Castaño, Diana María; Gómez, Rubén Darío; Orrego, Julio César; Moncada, Marcela; Franco, José Luis

    2015-01-01

    Common variable immunodeficiency is a heterogeneous syndrome characterized by recurrent infections, hypogammaglobulinemia and defective production of specific antibodies. Abnormalities in peripheral blood lymphocyte subpopulations, in particular of B lymphocytes, allow the classification of patients into homogeneous groups. To perform a clinical and immunological characterization and to evaluate lymphocyte subpopulations of twelve Colombian patients with common variable immunodeficiency in order to define homogeneous groups. We reviewed medical records and evaluated serum immunoglobulins (Ig), lymphoproliferation, delayed hypersensitivity and used flow cytometry to quantify peripheral blood total lymphocyte and B cell populations. All patients had recurrent respiratory and/or gastrointestinal infections, while some also had infections affecting other systems. All patients had abnormally low serum IgG levels, while IgA and IgM levels were reduced in nine and ten patients, respectively. Lymphoproliferation to mitogen was lower in patients than in healthy controls but lymphoproliferation to specific antigen was normal in all. Flow cytometry revealed high numbers of T cells in three patients, while seven had a low CD4+/CD8+ ratio and four had reduced NK cells . Eleven patients had normal B cell counts, and eight of them also showed decreased memory B lymphocytes, and four had increased transitional or CD21 low B lymphocytes. Lymphocyte typing allowed assigning all but one patient to homogeneous groups according to international classification schemes, indicating the necessity of including more criteria until an ideal classification is achieved. This study will lead to a better medical monitoring of common variable immunodeficiency patients in groups at high risk of developing clinical complications.

  2. Lymphoid nodular hyperplasia in a patient with severe combined immunodeficiency disease

    International Nuclear Information System (INIS)

    Sanchez-Alegre, M. L.; Casanova, A.; Delgado, J.; Relanzon, S.

    2001-01-01

    We describe a case of lymphoid nodular hyperplasia in a woman with severe combined immunodeficiency disease. the patient complained of constipation and episodes of abdominal pain, and examination revealed the presence of a large abdominal mass. The diagnosis was suspected on the basis of the initial radiological studies, but intestinal biopsy was necessary to rule out lymphomatous involvement. We point out the radiological features of this entity which, despite the fact that it may be a chance finding of no pathological significance, requires special attention, especially in immuno deficient individuals. (Author) 10 refs

  3. [Chonic diarrhea and malabsorption due to common variable immunodeficiency, gastrectomy and giardiasis infection: a difficult nutritional management].

    Science.gov (United States)

    Domínguez-López, M E; González-molero, I; Ramírez-Plaza, C P; Soriguer, F; Olveira, G

    2011-01-01

    Gastric cancer is a frequent cause of cancer-related mortality in the world. Surgery is the only potentially curative therapy, although the adverse effects of surgery are common and considerable. Common variable immunodeficiency is in many cases cause of gastrointestinal system problems such as chronic diarrhea caused by infestation with giardia lamblia, nodular lymphoid hiperplasia ad loss of villi leading frequently to malapsortion and malnutrition. Nutritional deficiencies due to malapsorption (postgastrectomy and secondary to loss of villi, giardiasis and common variable inmunodeficiency) are common. We present the case of a patient with gastric cancer who underwent a gastrectomy with common variable hipogammaglobulinemia and chronic infestation by giardia lamblia, with serious diarrhea resistant to treatment and malabsorption.

  4. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

    Science.gov (United States)

    Tuijnenburg, Paul; Lango Allen, Hana; Burns, Siobhan O; Greene, Daniel; Jansen, Machiel H; Staples, Emily; Stephens, Jonathan; Carss, Keren J; Biasci, Daniele; Baxendale, Helen; Thomas, Moira; Chandra, Anita; Kiani-Alikhan, Sorena; Longhurst, Hilary J; Seneviratne, Suranjith L; Oksenhendler, Eric; Simeoni, Ilenia; de Bree, Godelieve J; Tool, Anton T J; van Leeuwen, Ester M M; Ebberink, Eduard H T M; Meijer, Alexander B; Tuna, Salih; Whitehorn, Deborah; Brown, Matthew; Turro, Ernest; Thrasher, Adrian J; Smith, Kenneth G C; Thaventhiran, James E; Kuijpers, Taco W

    2018-03-02

    The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort. In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants. This accounted for 4% of common variable immunodeficiency (CVID) cases (n = 390) in the cohort. Amino acid substitutions predicted to be pathogenic were assessed by means of analysis of structural protein data. Immunophenotyping, immunoblotting, and ex vivo stimulation of lymphocytes determined the functional effects of these variants. Detailed clinical and pedigree information was collected for genotype-phenotype cosegregation analyses. Both sporadic and familial cases demonstrated evidence of the noninfective complications of CVID, including massive lymphadenopathy (24%), unexplained splenomegaly (48%), and autoimmune disease (48%), features prior studies correlated with worse clinical prognosis. Although partial penetrance of clinical symptoms was noted in certain pedigrees, all carriers have a deficiency in B-lymphocyte differentiation. Detailed assessment of B-lymphocyte numbers, phenotype, and function identifies the presence of an increased CD21 low B-cell population. Combined with identification of the disease-causing variant, this distinguishes between healthy subjects, asymptomatic carriers, and clinically affected cases. We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  5. Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

    Directory of Open Access Journals (Sweden)

    Jovanka King

    2017-08-01

    Full Text Available Primary immunodeficiency diseases (PID are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC assay to screen for severe combined immunodeficiency (SCID and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.

  6. Association between the human herpesvirus 8 and the diffuse nodular lymphoid hyperplasia of the small intestine in common variable immunodeficiency

    International Nuclear Information System (INIS)

    Kokuina, Elena; Dominguez Alvarez, Carlos; Noa Pedroso, Guillermo; Martinez Rodriguez Pedro Ariel

    2009-01-01

    The common variable immunodeficiency (CVID) is the more frequent primary immunodeficiency in clinical field and its presentation forms are very variable. We describe the case of a women presenting with adult CVID with chronic diarrhea syndrome, weight loss and diffuse lymphadenopathies, where the more marked immunologic features were a deep hypogammaglobulinemia of the three major kinds of immunoglobulins and numerical decrease of B cells (CD19 +) and NK cells (CD3 -C D56 +) in peripheral blood. Biopsy of small intestine obtained by video-assisted panendoscope, showed the presence of a multinodular lymphoid hyperplasia with partial atrophy of hairinesses. Immunohistochemistry showed that nodules were high germinal centers with distribution of B cells (CD20 +) and T cells (CD3 +) , similar to that of normal follicle. There was not differential expression of the K and λ light chains. The real time polymerase chain reaction (QRT-PCR) method detected many copies from the genome of type 8 human herpesvirus (VHH-8) (133 copies/μL of DNA) in biopsy of intestinal nodule DNA. VHH-8 infection may to be a significant factor in pathogenesis of lymphoproliferative disorders in patients presenting with CVID

  7. Frequency of the severe combined immunodeficiency disease gene among horses in Morocco.

    Science.gov (United States)

    Piro, M; Benjouad, A; Tligui, N S; El Allali, K; El Kohen, M; Nabich, A; Ouragh, L

    2008-09-01

    Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring among Arabian or crossbred Arabian horses. The genetic defect responsible was previously identified as a 5-base pair deletion in the gene encoding the catalytic subunit of the DNA dependant protein kinase (DNA-PKcs). This study was carried out to determine the frequency of SCID and identify horses carrying the gene for SCID among Arabian and Arabian crossbred stallions and mares in Morocco using a DNA-based test. Twenty-one horses were SCID carriers: 14 (7%) Arabians, 6 (4%) Arab-Barbs and one (33%) Anglo-Arab. After analysing their genealogy, 3 imported stallions were identified that disseminated the mutant gene of DNA-PKcs in Morocco.

  8. [Nodular regenerative hyperplasia associated with common variable immunodeficiency and other comorbidities].

    Science.gov (United States)

    León, Rafael; Sánchez-Martínez, Rosario; Palazón, José M; Payá, Artemio; Ramos, José M; Pinargote, Héctor

    2016-03-18

    Currently, there are not many data on the evolution of nodular regenerative hyperplasia (NRH) associated or not with underlying diseases and in particular that associated with common variable inmunodeficiency (CVID). Twenty cases of NRH are presented, and the differences between the cases associated with CVID and those related to other diseases are analysed. Retrospective and descriptive study over a period of 14 years. Twelve out of the 20 patients were men; the median age was 51 years. CVID was the main illness associated with NRH. In patients with CVID and NRH, gastrointestinal haemorrhage was more common, all the patients had high gamma glutamyl transferase and alkaline phosphatase and none had altered albumin and bilirubin levels compared to the patients without CVID. On follow-up, 50% of patients with CVID (2/4) had died compared to 33.3% (5/15) without CVID. NRH in patients with CVID seems to have more biochemical data of anicteric cholestasis and portal hypertension and could be associated with lower survival. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  9. Screening protocols to monitor respiratory status in primary immunodeficiency disease : Findings from a European survey and subclinical infection working group

    NARCIS (Netherlands)

    Jolles, S.; Sánchez-Ramón, S.; Quinti, I.; Soler-Palacín, P.; Agostini, C.; Florkin, B.; Couderc, L.J.; Brodszki, N.; Jones, A.; Longhurst, H.; Warnatz, K.; Haerynck, F.; Matucci, A.; de Vries, E.

    2017-01-01

    Many patients with primary immunodeficiency (PID) who have antibody deficiency develop progressive lung disease due to underlying subclinical infection and inflammation. To understand how these patients are monitored we conducted a retrospective survey based on patient records of 13 PID centres

  10. Prevalence of chronic kidney disease in newly diagnosed patients with Human immunodeficiency virus in Ilorin, Nigeria.

    Science.gov (United States)

    Ayokunle, Dada Samuel; Olusegun, Olanrewaju Timothy; Ademola, Aderibigbe; Adindu, Chijioke; Olaitan, Rafiu Mojeed; Oladimeji, Ajayi Akande

    2015-01-01

    Human immunodeficiency virus (HIV) the causative agent of Acquired immunodeficiency syndrome (AIDS) is an important cause of renal diseases in sub-Saharan Africa. There is paucity of studies on the burden of chronic kidney disease (CKD) among patients with HIV/AIDS in the North-Central zone of Nigeria. This is a cross-sectional study of 227 newly-diagnosed, antiretroviral naïve patients with HIV/AIDS seen at the HIV clinic of the Medical Out-patient Department (MOPD) of University of Ilorin Teaching Hospital (UITH). They were matched with 108 control group. Laboratory investigations were performed for the participants. CKD was defined as estimated glomerular filtration rate (eGFR) 30 mg/g. There were 100 (44%) males among the patients and 47 (43.5%) among the control group. The mean ages of the patients and controls were 40.3 ± 10.3 years and 41.8 ± 9.5 years respectively. CKD was observed in 108 (47.6%) among the patients and 18 (16.7%) of the controls (p = 0.01). The median CD4 T-cell count was significantly lower in patients with CKD. Ninety-three (41.0%) of the patients had dipstick proteinuria of > 2 +. The median albumin creatinine ratio (ACR) was significantly higher among the HIV-positive patients (272.3 mg/g) compared with the HIV-negative controls (27.22 mg/g) p = 0.01. The CD4 T-cell count correlates positively with eGFR (r = 0.463, p = 0.001) and negatively with ACR (r = -0.806, p = 0.001). CKD is very common among patients with HIV/AIDS in Ilorin. Screening and early intervention for CKD should be part of the protocols in the management of these patients.

  11. Skewed distribution of circulating activated natural killer T (NKT) cells in patients with common variable immunodeficiency disorders (CVID).

    Science.gov (United States)

    Carvalho, Karina I; Melo, Karina M; Bruno, Fernanda R; Snyder-Cappione, Jennifer E; Nixon, Douglas F; Costa-Carvalho, Beatriz T; Kallas, Esper G

    2010-09-09

    Common variable immunodeficiency disorder (CVID) is the commonest cause of primary antibody failure in adults and children, and characterized clinically by recurrent bacterial infections and autoimmune manifestations. Several innate immune defects have been described in CVID, but no study has yet investigated the frequency, phenotype or function of the key regulatory cell population, natural killer T (NKT) cells. We measured the frequencies and subsets of NKT cells in patients with CVID and compared these to healthy controls. Our results show a skewing of NKT cell subsets, with CD4+ NKT cells at higher frequencies, and CD8+ NKT cells at lower frequencies. However, these cells were highly activated and expression CD161. The NKT cells had a higher expression of CCR5 and concomitantly expression of CCR5+CD69+CXCR6 suggesting a compensation of the remaining population of NKT cells for rapid effector action.

  12. Common variable immunodeficiency in horses is characterized by B cell depletion in primary and secondary lymphoid tissues.

    Science.gov (United States)

    Flaminio, M Julia B F; Tallmadge, Rebecca L; Salles-Gomes, Cristina O M; Matychak, Mary Beth

    2009-01-01

    Common variable immunodeficiency (CVID) in horse patients is characterized by late-onset B cell lymphopenia or depletion, hypo- or agammaglobulinemia, impaired humoral response to tetanus toxoid vaccination, and recurrent fevers and bacterial infections. This study describes the clinical and immunologic findings of 14 affected horses (average age 10.7 +/- 4.4 years) of both genders (six females, eight males) and different breeds (eight Thoroughbreds, four Quarter Horses, one Warmblood, one Pony). Serial immunological testing in peripheral blood revealed persistent, severe B cell lymphopenia (mean 1.3 +/- 2.3% positive cells) in all patients. Serum IgG (range horses. Serum IgA concentrations declined with time. Histopathology and immunohistochemistry revealed absence of lymphoid follicles and B cells in primary and secondary lymphoid tissues. CVID is a cause of recurrent pneumonia, septicemia, and meningitis in adult horses and has a grave prognosis for clinical management and survival.

  13. Malignancies and infection due to the human immunodeficiency virus. Are these emerging diseases?

    Science.gov (United States)

    Valencia Ortega, M E

    2018-04-01

    Since the start of the human immunodeficiency virus (HIV) epidemic, tumour disease among patients has been significant. The collection of malignancies can be divided primarily into 2 groups: those associated with HIV (all of which are related to viral diseases) and those not associated with HIV (only some of which are associated with viral diseases). The origin of these malignancies is multifactorial, and the main causes that have led to an increase in tumour disease are immunosuppression, coinfection with oncogenic viruses and life prolongation secondary to the use of antiretroviral therapy. Establishing the general characteristics of the undiagnosed AIDS tumours is difficult, mainly because they are a highly heterogeneous group formed by malignancies of a diverse nature. The treatments do not differ from those used in the general population, although the management can be more difficult due to the late diagnosis, drug interactions and associated comorbidities. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  14. XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

    Science.gov (United States)

    Li, Feng-Yen; Chaigne-Delalande, Benjamin; Su, Helen; Uzel, Gulbu; Matthews, Helen; Lenardo, Michael J

    2014-04-03

    Epstein-Barr virus (EBV) is an oncogenic gammaherpesvirus that infects and persists in 95% of adults worldwide and has the potential to cause fatal disease, especially lymphoma, in immunocompromised hosts. Primary immunodeficiencies (PIDs) that predispose to EBV-associated malignancies have provided novel insights into the molecular mechanisms of immune defense against EBV. We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia" (XMEN) disease characterized by loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1), chronic high-level EBV with increased EBV-infected B cells, and heightened susceptibility to EBV-associated lymphomas. The genetic etiology of XMEN disease has revealed an unexpected quantitative role for intracellular free magnesium in immune functions and has led to novel diagnostic and therapeutic strategies. Here, we review the clinical presentation, genetic mutation spectrum, molecular mechanisms of pathogenesis, and diagnostic and therapeutic considerations for this previously unrecognized disease.

  15. CT features of pulmonary mycobacterial disease in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Zhu Ying; Zhang Zhiyong; Shi Yuxin; Feng Feng

    2013-01-01

    Objective: To study the CT features of pulmonary non-tuberculous mycobacteria (NTM) disease in patients with acquired immunodeficiency syndrome (AIDS) and explore the different CT appearances between AIDS-NTM and AIDS-TB. Methods: CT findings of pulmonary NTM disease in 27 AIDS patients (NTM group) were retrospectively analyzed and compared with that of tuberculosis in 30 AIDS patients (TB group). The results were statistically analyzed using Fisher's exact test. Results: CT findings of NTM appeared significantly more than that of TB as follows: high-density nodules (n = 18 vs 1, P < 0.01), ground-glass opacities (n = 10 vs 0, P < 0.01), fibrotic band (n = 17 vs 3, P < 0.01), bronchiectasis (9 vs 2, P = 0.012). CT findings of NTM appeared significantly less than that of TB as follows: miliary nodules (0 vs 6, P = 0.016), air space consolidations (n = 2 vs 11, P < 0.01), pleural effusion (n = 1 vs 9, P < 0.01). Conclusion: Nodule and fibrotic band accompanied with bronchiectasis were the main CT manifestations of pulmonary NTM disease in AIDS patients, while air space consolidation accompanied with pleural effusion and miliary nodules were the predominate CT findings of pulmonary tuberculosis in AIDS patients. (authors)

  16. Kidney Disease in Human Immunodeficiency Virus-seropositive Patients: Absence of Human Immunodeficiency Virus-associated Nephropathy was a Characteristic Feature.

    Science.gov (United States)

    Prakash, J; Ganiger, V; Prakash, S; Sivasankar, M; Sunder, S; Singh, U

    2017-01-01

    Human immunodeficiency virus (HIV) infection can cause a broad spectrum of renal diseases. However, there is paucity of Indian data on the patterns of renal lesions in HIV-seropositive patients. The aim of the present study was to delineate the spectrum of renal lesions in HIV/acquired immunodeficiency syndrome patients. In this prospective study, all HIV-positive patients of both genders aged >18 years were screened for renal disease. Patients with proteinuria of more than 1 g/24 h were subjected to renal biopsy. A total of 293 HIV-positive patients were screened; of these, 136 (46.4%) patients found to have renal involvement. Dipstick-positive proteinuria of 1+ or more was observed in 112 (38.2%) patients, and 16 (14.2%) patients had proteinuria of more than 1 g/24 h. Renal biopsy in 14 cases revealed glomerulonephritis (GN) in 12 (85.7%) (isolated GN in 4 [28.5%] and GN mixed with chronic TIN in 8 [57.1%]) patients. These include mesangioproliferative GN in 5 (35.7%), membranoproliferative GN in 2 (14.2%), focal segmental glomerulosclerosis in 2 (14.2%), diffuse proliferative GN in 2 (14.2%), and diabetic nephropathy in 1 (7.1%) patients. Chronic interstitial nephritis was noted in 10 (71.42%) (superimposed on GN in 8 [57.1%], isolated in 2 [14.2%]) patients. Granulomatous interstitial nephritis was seen in 3 (24.1%) cases. GN and chronic interstitial nephritis were noted in 85.7% and 71.42% of patients, respectively, mostly superimposed on each other. Mesangioproliferative GN was the most common glomerular lesion, but classical HIV-associated nephropathy was not observed.

  17. Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

    Science.gov (United States)

    Reichenbach, Janine; Schubert, Ralf; Horvàth, Rita; Petersen, Jens; Fütterer, Nancy; Malle, Elisabeth; Stumpf, Andreas; Gebhardt, Boris R; Koehl, Ulrike; Schraven, Burkhart; Zielen, Stefan

    2006-09-01

    We present the clinical and laboratory features of a boy with a new syndrome of mitochondrial depletion syndrome and T cell immunodeficiency. The child suffered from severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo-occipital region with consecutive supratentorial hydrocephalus. Histologic examination of a skeletal muscle biopsy was normal. Biochemical investigation showed combined deficiency of respiratory chain complexes II+III and IV. MtDNA depletion was found by real-time PCR. No pathogenic mutations were identified in the TK2, SUCLA2, DGUOK, and ECGF1 genes. A heterozygous missense mutation was found in POLG1. The pathogenic relevance of this mutation is unclear. Interestingly, a lack of CD8(+) T lymphocytes as well as NK cells was also observed. The percentage of CD45RO-expressing cells was decreased in activated CD8(+) T lymphocytes. Activation of T lymphocytes via IL-2 was diminished. The occurrence of the immunologic deficiency in our patient with mtDNA depletion is a rare finding, implying that cells of the immune system might also be affected by mitochondrial disease.

  18. [Consensus statement: recommendations for the management of metabolic bone disease in human immunodeficiency virus patients].

    Science.gov (United States)

    Martínez, Esteban; Jódar Gimeno, Esteban; Reyes García, Rebeca; Carpintero, Pedro; Casado, José Luis; Del Pino Montes, Javier; Domingo Pedrol, Pere; Estrada, Vicente; Maalouf, Jorge; Negredo, Eugenia; Ocampo, Antonio; Muñoz-Torres, Manuel

    2014-04-01

    To provide practical recommendations for the evaluation and treatment of metabolic bone disease in human immunodeficiency virus (HIV) patients. Members of scientific societies related to bone metabolism and HIV: Grupo de Estudio de Sida (GeSIDA), Sociedad Española de Endocrinología y Nutrición (SEEN), Sociedad Española de Investigación Ósea y del Metabolismo Mineral (SEIOMM), and Sociedad Española de Fractura Osteoporótica (SEFRAOS). A systematic search was carried out in PubMed, and papers in English and Spanish with a publication date before 28 May 2013 were included. Recommendations were formulated according to GRADE system (Grading of Recommendations, Assessment, Development, and Evaluation) setting both their strength and the quality of supporting evidence. Working groups were established for each major part, and the final resulting document was later discussed in a face-to-face meeting. All the authors reviewed the final written document and agreed with its content. The document provides evidence-based practical recommendations on the detection and treatment of bone disease in HIV-infected patients. Copyright © 2013 Elsevier España, S.L. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  19. Contribution of the human immunodeficiency virus/acquired immunodeficiency syndrome epidemic to de novo presentations of heart disease in the Heart of Soweto Study cohort.

    Science.gov (United States)

    Sliwa, Karen; Carrington, Melinda J; Becker, Anthony; Thienemann, Friedrich; Ntsekhe, Mpiko; Stewart, Simon

    2012-04-01

    The contemporary impact of the human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) epidemic on heart disease in South Africa (>5 million people affected) is unknown. The Heart of Soweto Study provides a unique opportunity to identify the contribution of cardiac manifestations of this epidemic to de novo presentations of heart disease in an urban African community in epidemiological transition. Chris Hani Baragwanath Hospital services the >1 million people living in Soweto, South Africa. A prospective, clinical registry captured data from all de novo cases of heart disease presenting to the Cardiology Unit during 2006-08. We describe all cases where HIV/AIDS was concurrently diagnosed. Overall, 518 of 5328 de novo cases of heart disease were identified as HIV-positive (9.7%) with 54% of these prescribed highly active anti-retroviral therapies on presentation. Women (62%) and Africans (97%) predominated with women being significantly younger than men 38 ± 13 vs. 42 ± 13 years (P = 0.002). The most common primary diagnosis attributable to HIV/AIDS was HIV-related cardiomyopathy (196 cases, 38%); being prescribed more anti-retroviral therapy (127/196 vs. 147/322; odds ratio 2.85, 95% confidence interval 1.81-3.88) with higher viral loads [median 110 000 (inter-quartile range 26 000-510 000) vs. 19 000 (3200-87 000); P = 0.018] and a lower CD4 count [median 180 (71-315) vs. 211 (96-391); P = 0.019] than the rest. An additional 128 cases (25%) were diagnosed with pericarditis/pericardial effusion with a range of other concurrent diagnoses evident, including 42 cases (8.1%) of HIV-related pulmonary arterial hypertension. Only 14 of all 581 cases of coronary artery disease (CAD) (2.4%, mean age 41 ± 13 years) were confirmed HIV-positive. Cardiac manifestations of HIV/AIDS identified within this cohort were relatively infrequent. While HIV-related cardiomyopathy and pericardial disease remain important targets for early detection and treatment in

  20. Gastric adenocarcinoma in common variable immunodeficiency: features of cancer and associated gastritis may be characteristic of the condition.

    Science.gov (United States)

    De Petris, Giovanni; Dhungel, Bal M; Chen, Longwen; Chang, Yu-Hui H

    2014-10-01

    Common variable immunodeficiency (CVID) is associated with an increased risk of gastric cancer. The aim of the study was to determine the morphological features of CVID-associated gastric adenocarcinoma (CAGA) and of the background gastritis. The population of gastric cancer patients with CVID of Mayo Clinic in the period 2000-2010 was studied; 6 cases of CVID (2 males, 4 females, average age 47 years, age range 26-71 years) were found in 5793 patients with gastric cancer in the study period. Each patient underwent gastric resection for which histology slides were reviewed. Chronic gastritis variables, CVID-related findings, and features of the adenocarcinoma were recorded. CAGA was of intestinal type, with high number of intratumoral lymphocytes (ITLs). Cancer was diagnosed in younger patients than in the overall population of gastric cancer. Severe atrophic metaplastic pangastritis with extensive dysplasia was present in the background in 4 cases, with features of lymphocytic gastritis in 2 cases. Features of CVID (plasma cells paucity in 4 of 6 cases, lymphoid nodules prominent in four cases) could be detected. In summary, gastric adenocarcinoma at young age with ITLs, accompanied by atrophic metaplastic pangastritis, should alert the pathologist of the possibility of CAGA. It follows that, in presence of those characteristics, the search of CVID-associated abnormalities should be undertaken in the nonneoplastic tissues. © The Author(s) 2014.

  1. Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay

    International Nuclear Information System (INIS)

    Aitken, D.A.; Kleijer, W.J.; Niermeijer, M.F.; Galjaard, H.; Herbschleb-Voogt, E.

    1980-01-01

    A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease has been investigated by assay of adenosine deaminase activity in cultured amniotic fluid cells using a microradioassay. A low-normal level of consistent with heterozygote status in the foetus was found and confirmed after birth by assay of red cell and fibroblast adenosine deaminase activities. It is suggested that the radioassay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric procedure. (author)

  2. [Cognitive complaints in people with human immunodeficiency virus in Spain: prevalence and related variables].

    Science.gov (United States)

    Muñoz-Moreno, José A; Fuster-Ruiz de Apodaca, Maria J; Fumaz, Carmina R; Ferrer, Maria J; Molero, Fernando; Jaen, Àngels; Clotet, Bonaventura; Dalmau, David

    2014-05-20

    Cognitive complaints have been scarcely studied in people with HIV in Spain. The aim of this research was to know the prevalence of cognitive complaints in HIV-infected people, as well as its potential relationships with demographic, clinical and psychological variables, in the era of combination antiretroviral therapies. Observational multicenter study developed in 4 hospitals and 10 NGOs, in which 791 people with HIV in Spain participated. A self-reported questionnaire was used to evaluate demographic and clinical variables, and an assessment of cognitive complaints, emotional status and quality of life variables was also included. Descriptive and inferential tests were used for statistical analyses. Almost half of the sample (49.8%) referred cognitive complaints, in 72.1% of them an association with interference on daily living activities was found. Memory and attention were the areas most prevalently perceived as affected. The existence of cognitive complaints correlated with a longer HIV infection, lower CD4+ cell count, undetectable viral load and worse quality of life. A discriminant analysis determined that depression, anxiety, older age, living with no partner and low education level allowed to classify optimally HIV-infected people with cognitive complaints. Self-reported cognitive complaints are frequent in people infected with HIV in the current era of combination antiretroviral therapies. This fact is related to emotional disturbances and poor quality of life, but also to impaired immunological and virological status. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  3. A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).

    Science.gov (United States)

    Russell, Mark A; Pigors, Manuela; Houssen, Maha E; Manson, Ania; Kelsell, David; Longhurst, Hilary; Morgan, Noel G

    2018-02-01

    Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. Recently, variants within the gene encoding the transcription factor STAT3 were implicated in monogenic CVID. Here, we describe a patient presenting with symptoms synonymous with CVID, who displayed reduced levels of IgG and IgA, repeated viral infections and multiple additional co-morbidities. Whole-exome sequencing revealed a de novo novel missense mutation in the coiled-coil domain of STAT3 (c.870A>T; p.K290N). Accordingly, the K290N variant of STAT3 was generated, and a STAT3 responsive dual-luciferase reporter assay revealed that the variant strongly enhances STAT3 transcriptional activity both under basal and stimulated (with IL-6) conditions. Overall, these data complement earlier studies in which CVID-associated STAT3 mutations are predicted to enhance transcriptional activity, suggesting that such patients may respond favourably to IL-6 receptor antagonists (e.g. tocilizumab). Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Renal Alterations in Feline Immunodeficiency Virus (FIV-Infected Cats: A Natural Model of Lentivirus-Induced Renal Disease Changes

    Directory of Open Access Journals (Sweden)

    Mauro Pistello

    2012-08-01

    Full Text Available Human immunodeficiency virus (HIV is associated with several renal syndromes including acute and chronic renal failures, but the underlying pathogenic mechanisms are unclear. HIV and feline immunodeficiency virus (FIV share numerous biological and pathological features, including renal alterations. We investigated and compared the morphological changes of renal tissue of 51 experimentally and 21 naturally infected cats. Compared to the latter, the experimentally infected cats exhibited some mesangial widening and glomerulonephritis, milder proteinuria, and lower tubular and interstitial alterations. The numbers of giant protein tubular casts and tubular microcysts were also lower. In contrast, diffuse interstitial infiltrates and glomerular and interstitial amyloidosis were detected only in naturally infected cats. Similar alterations are found in HIV infected patients, thus supporting the idea of a causative role of FIV infection in renal disease, and underlining the relevance of the FIV and its natural host as an animal model for investigating lentivirus-associated nephropathy.

  5. Renal alterations in feline immunodeficiency virus (FIV)-infected cats: a natural model of lentivirus-induced renal disease changes.

    Science.gov (United States)

    Poli, Alessandro; Tozon, Natasa; Guidi, Grazia; Pistello, Mauro

    2012-09-01

    Human immunodeficiency virus (HIV) is associated with several renal syndromes including acute and chronic renal failures, but the underlying pathogenic mechanisms are unclear. HIV and feline immunodeficiency virus (FIV) share numerous biological and pathological features, including renal alterations. We investigated and compared the morphological changes of renal tissue of 51 experimentally and 21 naturally infected cats. Compared to the latter, the experimentally infected cats exhibited some mesangial widening and glomerulonephritis, milder proteinuria, and lower tubular and interstitial alterations. The numbers of giant protein tubular casts and tubular microcysts were also lower. In contrast, diffuse interstitial infiltrates and glomerular and interstitial amyloidosis were detected only in naturally infected cats. Similar alterations are found in HIV infected patients, thus supporting the idea of a causative role of FIV infection in renal disease, and underlining the relevance of the FIV and its natural host as an animal model for investigating lentivirus-associated nephropathy.

  6. Is Graves’ disease a primary immunodeficiency? New immunological perspectives on an endocrine disease

    OpenAIRE

    Struja, Tristan; Kutz, Alexander; Fischli, Stefan; Meier, Christian; Mueller, Beat; Recher, Mike; Schuetz, Philipp

    2017-01-01

    Background Uncertainty about factors influencing the susceptibility and triggers for Graves’ disease persists, along with a wide variation in the response to anti-thyroid drugs, currently at approximately 50% of non-responders. The aim of this narrative review is to summarize immunological concepts, with a combined endocrine and immunological perspective, to highlight potential new areas of research. Main text Relevant studies were identified through a systematic literature search using the P...

  7. Recurrent Infections May Signal Immunodeficiencies

    Science.gov (United States)

    American Academy of Allergy Asthma & Immunology Menu Search Main navigation Skip to content Conditions & Treatments Allergies Asthma Primary Immunodeficiency Disease Related Conditions Drug Guide Conditions Dictionary Just ...

  8. Serum killing of Ureaplasma parvum shows serovar-determined susceptibility for normal individuals and common variable immuno-deficiency patients.

    Science.gov (United States)

    Beeton, Michael L; Daha, Mohamed R; El-Shanawany, Tariq; Jolles, Stephen R; Kotecha, Sailesh; Spiller, O Brad

    2012-02-01

    Many Gram-negative bacteria, unlike Gram-positive, are directly lysed by complement. Ureaplasma can cause septic arthritis and meningitis in immunocompromised individuals and induce premature birth. Ureaplasma has no cell wall, cannot be Gram-stain classified and its serum susceptibility is unknown. Survival of Ureaplasma serovars (SV) 1, 3, 6 and 14 (collectively Ureaplasma parvum) were measured following incubation with normal or immunoglobulin-deficient patient serum (relative to heat-inactivated controls). Blocking monoclonal anti-C1q antibody and depletion of calcium, immunoglobulins, or lectins were used to determine the complement pathway responsible for killing. Eighty-three percent of normal sera killed SV1, 67% killed SV6 and 25% killed SV14; greater killing correlating to strong immunoblot identification of anti-Ureaplasma antibodies; killing was abrogated following ProteinA removal of IgG1. All normal sera killed SV3 in a C1q-dependent fashion, irrespective of immunoblot identification of anti-Ureaplasma antibodies; SV3 killing was unaffected by total IgG removal by ProteinG, where complement activity was retained. Only one of four common variable immunodeficient (CVID) patient sera failed to kill SV3, despite profound IgM and IgG deficiency for all; however, killing of SV3 and SV1 was restored with therapeutic intravenous immunoglobulin therapy. Only the classical complement pathway mediated Ureaplasma-cidal activity, sometimes in the absence of observable immunoblot reactive bands. Copyright © 2011 Elsevier GmbH. All rights reserved.

  9. Human immunodeficiency virus and sexually transmitted diseases between the vulnerable populations in Kazakhstan

    Directory of Open Access Journals (Sweden)

    Zh. Z. Trumova

    2015-01-01

    Full Text Available The human immunodeficiency virus (HIV epidemic continues to expand in Eastern Europe and Central Asia according to UNAIDS data (2012, Geneva. The rate of new HIV infections AIDS – related mortality has increased by 25 % from 2001 to 2009 in Kazakhstan (WHO data, 2012. The number of new HIV infections among newly diagnosed patients attributed to heteroand homosexual contact has been steadily increasing. There is also higher rate of HIV among Injecting Drug Users. There is an increase incidence of co-infections especially sexually transmitted diseases. In fact, comorbid STIs increase patients' susceptibility of acquiring and transmitting HIV (Guenthner PC, Secor WE, Dezzutti CS., 2005; Kissinger P, Amedee A, Clark RA, et al. , 2009. HIV/AIDS shares transmission characteristics with other sexual and blood-borne agents. Higher sexual mixing rates and lack of condom use are conspicuous risk factors (Vermund et al. 2009. However, while all groups are affected by HIV, some are more vulnerable than others: sex workers (SWs, men who have sex with men (MSM, injecting drug users (IDU. All these findings determined to set up the goal of this research. The purpose of the study is еpidemiologic situation of human immunodeficiency virus (HIV/AIDS and related STIs in the Republic of Kazakhstan and in some vulnerable population groups to HIV infection. Materials and methods. To study the dynamics of HIV/STIs in Kazakhstan (cumulatively an analysis of 2012–2013 years statistics was conducted. Testing for HIV/STI of blood samples of the vulnerable groups was carried out in the laboratories of AIDS centers. The algorithm of confirming the diagnosis of HIV infection included a twofold enzyme immunoassay (EIA study of blood samples. Samples with positive results of the first EIA were retested using expert test systems; in case with a positive result of the second EIA a confirmatory test was conducted using a method of HIV-1 Western blot in the reference

  10. Variability of human immunodeficiency virus-1 in the female genital reservoir during genital reactivation of herpes simplex virus type 2.

    Science.gov (United States)

    LeGoff, J; Roques, P; Jenabian, M-A; Charpentier, C; Brochier, C; Bouhlal, H; Gresenguet, G; Frost, E; Pepin, J; Mayaud, P; Belec, L

    2015-09-01

    Clinical and subclinical genital herpes simplex virus type 2 (HSV-2) reactivations have been associated with increases in human immunodeficiency virus (HIV)-1 genital shedding. Whether HSV-2 shedding contributes to the selection of specific genital HIV-1 variants remains unknown. We evaluated the genetic diversity of genital and blood HIV-1 RNA and DNA in 14 HIV-1/HSV-2-co-infected women, including seven with HSV-2 genital reactivation, and seven without as controls. HIV-1 DNA and HIV-1 RNA env V1-V3 sequences in paired blood and genital samples were compared. The HSV-2 selection pressure on HIV was estimated according to the number of synonymous substitutions (dS), the number of non-synonymous substitutions (dN) and the dS/dN ratio within HIV quasi-species. HIV-1 RNA levels in cervicovaginal secretions were higher in women with HSV-2 replication than in controls (p0.02). Plasma HIV-1 RNA and genital HIV-1 RNA and DNA were genetically compartmentalized. No differences in dS, dN and the dS/dN ratio were observed between the study groups for either genital HIV-1 RNA or plasma HIV-1 RNA. In contrast, dS and dN in genital HIV-1 DNA were significantly higher in patients with HSV-2 genital reactivation (p genital HIV-1 DNA was slightly higher in patients with HSV-2 genital replication, indicating a trend for purifying selection (p 0.056). HSV-2 increased the genetic diversity of genital HIV-1 DNA. These observations confirm molecular interactions between HSV-2 and HIV-1 at the genital tract level. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  11. Common Variable Immunodeficiency (CVID)

    Science.gov (United States)

    ... Relations Cyber Infrastructure Computational Biology Equal Employment Opportunity Ethics Global Research Office of Mission Integration and Financial Management Strategic Planning Workforce Effectiveness Workplace Solutions Technology Transfer Intellectual Property Division of AIDS ...

  12. Role of flexible bronchoscopy and bronchoalveolar lavage in the diagnosis of pediatric acquired immunodeficiency syndrome-related pulmonary disease.

    Science.gov (United States)

    Birriel, J A; Adams, J A; Saldana, M A; Mavunda, K; Goldfinger, S; Vernon, D; Holzman, B; McKey, R M

    1991-06-01

    Flexible fiberoptic bronchoscopy with bronchoalveolar lavage was performed in 16 pediatric patients with the acquired immunodeficiency syndrome (AIDS) and deterioration in pulmonary function suggestive of opportunistic infection. In 62% of the patients Pneumocystis carinii was identified. Culture results showed a pure growth of Pseudomonas aeruginosa for one patient in addition to the Pneumocystis carinii. Bronchoscopy with lavage was well tolerated, with few complications even among patients with significant tachypnea and hypoxia. Because of its relative safety and effectiveness, this procedure should be considered the first invasive measurement used for evaluation of parenchymal lung disease in this population of patients.

  13. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

    Science.gov (United States)

    Conrad, Máire A; Dawany, Noor; Sullivan, Kathleen E; Devoto, Marcella; Kelsen, Judith R

    2017-12-01

    Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings. Whole-exome sequencing revealed that the child was homozygous for a novel variant in ZBTB24, the gene associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome. This describes the first case of inflammatory bowel disease associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome in a child with a novel disease-causing mutation in ZBTB24 found on whole-exome sequencing.

  14. Envelope gene sequences encoding variable regions 3 and 4 are involved in macrophage tropism of feline immunodeficiency virus

    NARCIS (Netherlands)

    Horzinek, M.C.; Vahlenkamp, T.W.; Ronde, A. de; Schuurman, N.M.P.; Vliet, A.L.W. van; Drunen, J. van; Egberink, H.F.

    1999-01-01

    The envelope is of cardinal importance for the entry of feline immunodeficiency virus (FIV) into its host cells, which consist of cells of the immune system including macrophages. To characterize the envelope glycoprotein determinants involved in macrophage tropism, chimeric infectious molecular

  15. Preferential Reduction of Circulating Innate Lymphoid Cells Type 2 in Patients with Common Variable Immunodeficiency with Secondary Complications Is Part of a Broader Immune Dysregulation.

    Science.gov (United States)

    Friedmann, David; Keller, Baerbel; Harder, Ina; Schupp, Jonas; Tanriver, Yakup; Unger, Susanne; Warnatz, Klaus

    2017-11-01

    Over a third of patients with common variable immunodeficiency (CVID) suffer from secondary complications like inflammatory organ disease, autoimmune manifestations, or lymphoproliferation contributing to increased morbidity and mortality in affected patients. Innate lymphoid cells (ILCs) have emerging roles in setting the milieu for physiological, but also pathological, immune responses and inflammation. We therefore sought to correlate the recently identified disturbed homeostasis of ILCs with alterations of the adaptive immune system in complex CVID patients (CVIDc). We quantified peripheral blood ILC and T helper cell subsets of 58 CVID patients by flow cytometry and compared the results to the clinical and immunological phenotype. Total ILCs were significantly reduced in peripheral blood of CVIDc patients compared to healthy individuals, but not to CVID patients who suffered only from infections (CVIDio). This reduction was mainly due to a decrease in ILC2s, while ILC3s were relatively increased in CVIDc compared to CVIDio patients. This alteration in ILC phenotype was more prominent in patients with an expansion of CD21 low B cells, but we could not detect an association of the altered ILC phenotype with a T H 1-shift among circulating CD4 T cells, which was also prominent in CVIDc patients. We confirm a relative shift in ILCs of CVIDc patients towards ILC3s which was associated with the expansion of CD21 low B cells, but not overtly with the relative expansion of T H 1-like T cells. Given the relative abundance of T H 1-like T cells compared to ILCs, these probably represent a more prominent source of the observed IFNγ-signature in CVIDc patients.

  16. First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Maddalena Migliavacca

    2018-02-01

    Full Text Available Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. Hematopoietic stem cell transplantation (HSCT from a matched donor and hematopoietic stem cell gene therapy are the preferred options for definitive treatment. Enzyme replacement therapy (ERT is used to manage the disease in the short term, while a decreased efficacy is reported in the medium-long term. To date, eight cases of lymphomas have been described in ADA-SCID patients. Here we report the first case of plasmablastic lymphoma occurring in a young adult with ADA-SCID on long-term ERT, which turned out to be Epstein–Barr virus associated. The patient previously received infusions of genetically modified T cells. A cumulative analysis of the eight published cases of lymphoma from 1992 to date, and the case here described, reveals a high mortality (89%. The most common form is diffuse large B-cell lymphoma, which predominantly occurs in extra nodal sites. Seven cases occurred in patients on ERT and two after haploidentical HSCT. The significant incidence of immunodeficiency-associated lymphoproliferative disorders and poor survival of patients developing this complication highlight the priority in finding a prompt curative treatment for ADA-SCID.

  17. Revisiting a quarter of a century of simian immunodeficiency virus (SIV-associated cardiovascular diseases at the German Primate Center

    Directory of Open Access Journals (Sweden)

    M. Mietsch

    2017-06-01

    Full Text Available Human immunodeficiency virus (HIV comorbidities have become clinically more important due to antiretroviral therapy. Although therapy increases life expectancy, it does not completely suppress immune activation and its associated complications. The simian immunodeficiency virus (SIV-infected rhesus macaque (Macaca mulatta represents a valuable model for the investigation of SIV-associated diseases. Although cardiovascular (CV changes are common in HIV-infected patients, there are only a few reports on the incidence of CV findings in SIV-infected animals. In addition, potential associations between pathohistological findings and hematological parameters are still unclear. We therefore conducted a retrospective analysis of 195 SIV-infected rhesus macaques that were euthanized with AIDS-related symptoms at the German Primate Center, Goettingen, over a 25-year period. Pathological findings were correlated with hematological data. The main findings included myocarditis (12.8 %, endocarditis (9.7 %, and arteriopathy (10.3 % in various organs. Thrombocytopenia occurred more frequently in macaques with endocarditis or arteriopathy than in macaques without CV disease (80 % in animals with endocarditis, 60 % in animals with arteriopathy, p < 0. 0001 and p = 0. 0016, respectively. Further investigations of the interaction between coagulation markers, proinflammatory cytokines, and biomarkers associated with endothelial dysfunction (e.g., D-dimers and histological data (vascular wall structure may unravel the mechanisms underlying HIV/SIV-associated CV comorbidities.

  18. The skin in primary immunodeficiency disorders

    NARCIS (Netherlands)

    Sillevis Smitt, J. Henk; Wulffraat, Nico M.; Kuijpers, Taco W.

    2005-01-01

    Primary immunodeficiency disorders comprise serious and rare diseases, predominantly in children. The skin may be involved in a primary immunodeficiency and the cutaneous alterations such as infections, eczematous dermatitis, erythroderma, autoimmune dermatoses and vasculitis may be the basis for

  19. Sexually transmitted diseases, human immunodeficiency virus, and pregnancy prevention. Combined contraceptive practices among urban African-American early adolescents.

    Science.gov (United States)

    Stanton, B F; Li, X; Galbraith, J; Feigelman, S; Kaljee, L

    1996-01-01

    To evaluate the success of efforts to educate youth not only to use prescription contraceptives to avoid pregnancy, but also to use condoms to avoid sexually transmitted diseases, including infection with the human immunodeficiency virus. Longitudinal study of 383 African-American youth aged 9 to 15 years enrolled in a randomized, controlled trial of an acquired immunodeficiency syndrome (AIDS) risk reduction intervention. Data about contraceptive practices were obtained at baseline and 6, 12, and 18 months later using a culturally and developmentally appropriate risk assessment tool administered with "talking" computers (Macintosh, Apple Computer Inc, Cupertino, Calif). Approximately three fourths of sexually active youth used some form of contraception in each 6-month round, with almost half of the youth using combinations of contraceptives. Among all youth at baseline and among control youth throughout the study, more than half used condoms and more than two thirds who used oral contraceptives also used condoms. Receipt of an AIDS education intervention was associated with use of more effective contraceptive practices (eg, condoms and another prescription or nonprescription method of birth control). After receiving the intervention, more than 80% of the youth who used oral contraceptives also used condoms. Contraceptive practices showed considerable stability. Knowledge about AIDS was positively associated with use of more effective contraceptive methods. Many youth are using condoms and prescription birth control simultaneously, and these use rates can be increased through AIDS education interventions.

  20. Cancers related to Immunodeficiencies:Update and perspectives

    Directory of Open Access Journals (Sweden)

    Esmaeil Mortaz

    2016-09-01

    Full Text Available The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. Whilst, the incidence of primary immunodeficiencies (PIDs is 1:10.000 births, that of secondary immunodeficiencies is more common and are associated with post transplantation immune dysfunction or with immunosuppressive medication for human immunodeficiency virus (HIV or with human T-cell lymphotropic virus (HTLV infection.After infection, malignancy is the most prevalent cause of death in both children and adults with primary immunodeficiency disorders (PIDs. PIDs more often associated with cancer include common variable immunodeficiency (CVID, Wiskott Aldrich syndrome (WAS, ataxia-telangiectasia (AT and severe combined immunodeficiency (SCID. This suggests that a protective immune response against both infectious non-self (pathogens and malignant self-challenges (cancer exist. The increased incidence of cancer has been attributed to defective elimination of altered or transformed cells and/or defective immunity towards cancer cells. The concept of abberant immune surveillance occurring in PIDs is supported by evidence in mice and from patients undergoing immunosuppression after transplantation. Here, we discuss the importance of PID defects in the development of malignancies, the current limitations associated with molecular pathogenesis of these diseases and emphasize the need for further knowledge of how specific mutations can modulate the immune system to alter immunosurveillance and thereby play a key role in the etiology of malignancies in PID patients.

  1. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Dawany, Noor; Moran, Christopher J; Petersen, Britt-Sabina; Sarmady, Mahdi; Sasson, Ariella; Pauly-Hubbard, Helen; Martinez, Alejandro; Maurer, Kelly; Soong, Joanne; Rappaport, Eric; Franke, Andre; Keller, Andreas; Winter, Harland S; Mamula, Petar; Piccoli, David; Artis, David; Sonnenberg, Gregory F; Daly, Mark; Sullivan, Kathleen E; Baldassano, Robert N; Devoto, Marcella

    2015-11-01

    Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed at 5 years of age or younger, frequently presents with a different and more severe phenotype than older-onset IBD. We investigated whether patients with VEO-IBD carry rare or novel variants in genes associated with immunodeficiencies that might contribute to disease development. Patients with VEO-IBD and parents (when available) were recruited from the Children's Hospital of Philadelphia from March 2013 through July 2014. We analyzed DNA from 125 patients with VEO-IBD (age, 3 wk to 4 y) and 19 parents, 4 of whom also had IBD. Exome capture was performed by Agilent SureSelect V4, and sequencing was performed using the Illumina HiSeq platform. Alignment to human genome GRCh37 was achieved followed by postprocessing and variant calling. After functional annotation, candidate variants were analyzed for change in protein function, minor allele frequency less than 0.1%, and scaled combined annotation-dependent depletion scores of 10 or less. We focused on genes associated with primary immunodeficiencies and related pathways. An additional 210 exome samples from patients with pediatric IBD (n = 45) or adult-onset Crohn's disease (n = 20) and healthy individuals (controls, n = 145) were obtained from the University of Kiel, Germany, and used as control groups. Four hundred genes and regions associated with primary immunodeficiency, covering approximately 6500 coding exons totaling more than 1 Mbp of coding sequence, were selected from the whole-exome data. Our analysis showed novel and rare variants within these genes that could contribute to the development of VEO-IBD, including rare heterozygous missense variants in IL10RA and previously unidentified variants in MSH5 and CD19. In an exome sequence analysis of patients with VEO-IBD and their parents, we identified variants in genes that regulate B- and T-cell functions and could contribute to pathogenesis. Our analysis could lead to the

  2. Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece

    NARCIS (Netherlands)

    Raptaki, Maria; Varela, Ioanna; Spanou, Kleopatra; Tzanoudaki, Marianna; Tantou, Sofia; Liatsis, Manolis; Constantinidou, Nikki; Bakoula, Chryssa; Roos, Dirk; Kanariou, Maria

    2013-01-01

    Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and

  3. Primary Immunodeficiency Diseases in Aguascalientes, Mexico: Results from an Educational Program.

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    Alvarez-Cardona, Aristoteles; Espinosa-Padilla, Sara Elva; Reyes, Saul Oswaldo Lugo; Ventura-Juarez, Javier; Lopez-Valdez, Jaime Asael; Martínez-Medina, Lucila; Santillan-Artolozaga, Alberto; Cajero-Avelar, Adriana; De Luna-Sosa, Alma R; Torres-Bernal, Luis F; Espinosa-Rosales, Francisco J

    2016-04-01

    Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders characterized mainly by recurrent infections. Late diagnosis remains as one of the main issues to solve. We aimed to increase PID diagnosis in Aguascalientes, a 1.3 million inhabitants state in the center of Mexico, and to describe the clinical features of such patients. We developed an educational program for health personnel and general public; patients with possible PID were referred to a State University clinical center from December 2011 to December 2012. The patients were evaluated at the clinic and their definitive diagnosis pursued through laboratory, molecular and genetic assays. We describe the findings of those patients and analyze the impact of the program in terms of number of referrals. After 41 talks and 12 media appearances 151 patients were referred for evaluation. Fifteen (9.9%) were diagnosed with PID: five (33%) had antibody deficiencies, seven (47%) Well-defined syndromes, two (13%) Severe combined Immunodeficiency (SCID) and one case (7%) of an innate immune deficiency. All of the 15 PID patients had been referred by physicians, as opposed to the public. We estimated a "number needed to teach" of 75 physicians to get one PID patient referral. Educational programs are a fundamental part of the global efforts to increase PID diagnosis and care. To be successful, such programs should include public relations, reach for first-contact physicians, and aim to develop an efficient referral network with molecular diagnostic capability. Enhancing medical knowledge on PID is a successful strategy to improve early diagnosis and treatment.

  4. Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition

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    Rodríguez-Cortez, Virginia C.; del Pino-Molina, Lucia; Rodríguez-Ubreva, Javier; Ciudad, Laura; Gómez-Cabrero, David; Company, Carlos; Urquiza, José M.; Tegnér, Jesper; Rodríguez-Gallego, Carlos; López-Granados, Eduardo; Ballestar, Esteban

    2015-01-01

    Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute to its aetiology. Here we perform a high-throughput DNA methylation analysis of this disorder using a pair of CVID-discordant MZ twins and show predominant gain of DNA methylation in CVID B cells with respect to those from the healthy sibling in critical B lymphocyte genes, such as PIK3CD, BCL2L1, RPS6KB2, TCF3 and KCNN4. Individual analysis confirms hypermethylation of these genes. Analysis in naive, unswitched and switched memory B cells in a CVID patient cohort shows impaired ability to demethylate and upregulate these genes in transitioning from naive to memory cells in CVID. Our results not only indicate a role for epigenetic alterations in CVID but also identify relevant DNA methylation changes in B cells that could explain the clinical manifestations of CVID individuals. PMID:26081581

  5. Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications.

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    Desjardins, Marylin; Béland, Marianne; Dembele, Marieme; Lejtenyi, Duncan; Drolet, Jean-Phillipe; Lemire, Martine; Tsoukas, Christos; Ben-Shoshan, Moshe; Noya, Francisco J D; Alizadehfar, Reza; McCusker, Christine T; Mazer, Bruce D

    2018-01-01

    Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and clinical manifestations such as infections, autoimmunity, and malignancy. We sought to determine if responsiveness to interleukin-21 (IL-21), a key cytokine for B cell differentiation, correlates with distinct clinical phenotypes in CVID. CVID subjects were recruited through the Canadian Primary Immunodeficiency Evaluative Survey registry. Peripheral blood mononuclear cells were cultured with anti-CD40 ± interferon-gamma, interleukin-4 (IL-4), IL-21, and/or IL-4+IL-21. B cell subpopulations and IgG production were determined at baseline and day 7 by flow cytometry and ELISA. Clinical complications were compared using contingency tables. CVID subjects exhibited decreased CD27 + B cells and IgG production after 7 days of stimulation with anti-CD40+IL-21 (p  2% class-switched memory B cells at baseline. The IL-4 and IL-21 in vitro assays distinguish two groups of CVID subjects and can be used with baseline B cell subpopulation phenotyping to better identify patients experiencing more vs. fewer clinical non-infectious complications and potentially to modulate therapy.

  6. Selective interaction of heparin with the variable region 3 within surface glycoprotein of laboratory-adapted feline immunodeficiency virus.

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    Qiong-Ying Hu

    Full Text Available Heparan sulfate proteoglycans (HSPG can act as binding receptors for certain laboratory-adapted (TCA strains of feline immunodeficiency virus (FIV and human immunodeficiency virus (HIV. Heparin, a soluble heparin sulfate (HS, can inhibit TCA HIV and FIV entry mediated by HSPG interaction in vitro. In the present study, we further determined the selective interaction of heparin with the V3 loop of TCA of FIV. Our current results indicate that heparin selectively inhibits infection by TCA strains, but not for field isolates (FS. Heparin also specifically interferes with TCA surface glycoprotein (SU binding to CXCR4, by interactions with HSPG binding sites on the V3 loop of the FIV envelope protein. Peptides representing either the N- or C-terminal side of the V3 loop and containing HSPG binding sites were able to compete away the heparin block of TCA SU binding to CXCR4. Heparin does not interfere with the interaction of SU with anti-V3 antibodies that target the CXCR4 binding region or with the interaction between FS FIV and anti-V3 antibodies since FS SU has no HSPG binding sites within the HSPG binding region. Our data show that heparin blocks TCA FIV infection or entry not only through its competition of HSPG on the cell surface interaction with SU, but also by its interference with CXCR4 binding to SU. These studies aid in the design and development of heparin derivatives or analogues that can inhibit steps in virus infection and are informative regarding the HSPG/SU interaction.

  7. X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis

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    Nesrin Gulez

    2011-01-01

    Full Text Available The X-linked lymphoproliferative syndrome (XLP is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4 gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory. A six-year-old male patient was admitted with the complaints of persistent general lymphadenopathy, for two years had fever, bilateral cervical multiple microlymphadenopathy, hepatic/splenic enlargement with laboratory findings as decreased serum immunoglobulins, negative EBV VCA IgM (viral capsid antigen and anti-EBV EA (antibody to early D antigen, positive EBV VCA IgG (viral capsid antigen and EBV EBNA (antibody to nuclear antigen. SH2D1A gene analysis was negative. XIAP/BIRC4 sequencing revealed two novel single nucleotide variants (exon 7, 1978G > A, and 1996T > A in the 3′UTR of the gene in both patient and mother which were not disease causing. XIAP protein expression was found to be normal. The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. The patient will to be followed up as CVID until he presents new diagnostic signs or until the identification of a new gene.

  8. [Executive summary of the recommendations on the evaluation and management of renal disease in human immunodeficiency virus-infected patients].

    Science.gov (United States)

    Gorriz, José L; Gutiérrez, Félix; Trullàs, Joan C; Arazo, Piedad; Arribas, Jose R; Barril, Guillermina; Cervero, Miguel; Cofán, Frederic; Domingo, Pere; Estrada, Vicente; Fulladosa, Xavier; Galindo, María J; Gràcia, Sílvia; Iribarren, José A; Knobel, Hernando; López-Aldeguer, José; Lozano, Fernando; Martínez-Castelao, Alberto; Martínez, Esteban; Mazuecos, Maria A; Miralles, Celia; Montañés, Rosario; Negredo, Eugenia; Palacios, Rosario; Pérez-Elías, María J; Portilla, Joaquín; Praga, Manuel; Quereda, Carlos; Rivero, Antonio; Santamaría, Juan M; Sanz, José; Sanz, Jesús; Miró, José M

    2014-11-01

    The aim of this article is to update the 2010 recommendations on the evaluation and management of renal disease in human immunodeficiency virus (HIV)-infected patients. Renal function should be monitored in all HIV-infected patients. The basic renal work-up should include measurements of serum creatinine, estimated glomerular filtration rate by CKD-EPI, urine protein-to-creatinine ratio, and urinary sediment. Tubular function tests should include determination of serum phosphate levels and urine dipstick for glycosuria. In the absence of abnormal values, renal screening should be performed annually. In patients treated with tenofovir, or with risk factors for chronic kidney disease (CKD), more frequent renal screening is recommended. In order to prevent disease progression, potentially nephrotoxic antiretroviral drugs are not recommended in patients with CKD or risk factors for CKD. The document provides indications for renal biopsy and advises on the optimal time for referral of a patient to the nephrologist. The indications for and evaluation and management of dialysis and renal transplantation are also addressed. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  9. Aflatoxin-Related Immune Dysfunction in Health and in Human Immunodeficiency Virus Disease

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    Yi Jiang

    2008-01-01

    Full Text Available Both aflatoxin and the human immunodeficiency virus (HIV cause immune suppression and millions of HIV-infected people in developing countries are chronically exposed to aflatoxin in their diets. We investigated the possible interaction of aflatoxin and HIV on immune suppression by comparing immune parameters in 116 HIV positive and 80 aged-matched HIV negative Ghanaians with high (≥0.91 pmol/mg albumin and low (<0.91 pmol/mg albumin aflatoxin B1 albumin adduct (AF-ALB levels. AF-ALB levels and HIV viral load were measured in plasma and the percentages of leukocyte immunophenotypes and cytokine expression were determined using flow cytometry. The cross-sectional comparisons found that (1 among both HIV positive and negative participants, high AF-ALB was associated with lower perforin expression on CD8+ T-cells (P=.012; (2 HIV positive participants with high AF-ALB had significantly lower percentages of CD4+ T regulatory cells (Tregs; P=.009 and naive CD4+ T cells (P=.029 compared to HIV positive participants with low AF-ALB; and (3 HIV positive participants with high AF-ALB had a significantly reduced percentage of B-cells (P=.03 compared to those with low AF-ALB. High AF-ALB appeared to accentuate some HIV associated changes in T-cell phenotypes and in B-cells in HIV positive participants.

  10. Can immune-related genotypes illuminate the immunopathogenesis of cytomegalovirus disease in human immunodeficiency virus-infected patients?

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    Affandi, Jacquita S; Aghafar, Zayd K A; Rodriguez, Benigno; Lederman, Michael M; Burrows, Sally; Senitzer, David; Price, Patricia

    2012-02-01

    Most human immunodeficiency virus (HIV) patients are seropositive for cytomegalovirus (CMV) but a smaller proportion experience end-organ disease. This observation may reflect variations in genes affecting inflammatory and natural killer cell responses. DNA samples were collected from 240 HIV-infected patients followed at the University Hospitals/Case Medical Center (Cleveland, OH) between 1993 and 2008. Seventy-eight patients (African Americans = 41, Caucasians = 37) experienced CMV disease. Genotypes were determined using allele-specific fluorescent probes or multiplex polymerase chain reaction sequence-specific primers. IL12B3'UTR*(1) and SLC11A1 D543N*(1,2) were associated with CMV disease in African American patients (p = 0.04 and p = 0.02, respectively). IL10-1082*(1,2) and LILRB1 I142T*(1) were associated with CMV disease in Caucasians (p = 0.02 and p = 0.07, respectively). DARC T-46C*(1) and CD14 C-159T*(2) were associated with low nadir CD4(+) T cell counts in African American patients (p = 0.002 and p = 0.01, respectively). Caucasian patients carrying TNFA-308*2, TNFA-1031*(2), IL2-330*(1), CCL2-2518*(2), or LILRB1 I142T*(1) had significantly lower nadir CD4(+) T cells in a bootstrapped multivariable model (p = 0.006-0.02). In general, polymorphisms associated with CMV disease and CD4(+) T cell counts were distinct in Caucasian and African American patients in the United States. The LILRB1 I142T polymorphism was associated with both CMV disease and low nadir CD4(+) T cell counts in Caucasians, but the clearest determinant of low nadir CD4(+) T cell count in African American patients was DARC T-46C. Copyright © 2012 American Society for Histocompatibility and Immunogenetics. All rights reserved.

  11. Lymphocytes B and primary immunodeficiencies

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    Gabriela López-Herrera

    2016-03-01

    Full Text Available Primary antibody deficiencies represent the most frequent genetic diseases of the immune system and the first to be recognized along immunology history. The antibodies were recognized as part of the humoral immune system long ago, and after immunoglobulin discovery, the first antibody immunodeficiency were recognized and named as “agammaglobulinemia”, followed by the common variable immunodeficiency and the hyper-IgM syndrome. The following discoveries in immunology history made possible the understanding of these pathologies, for example: the discoveries of B cells, pre-B cells, the signaling pathway directed by the antigen receptor and many other cellular and molecular mechanisms. Primary antibody deficiencies have been studied for a long time and the discoveries of new syndromes have been helpful in the understanding of immunological mechanisms that take place in our organism. Then, this manuscript pretends to review the relevant findings in the history of immunology, focused on the B cells and the connection with the description of representative clinical entities of primary antibody deficiencies. The aim of this manuscript is to show to the reader that the generation of scientific knowledge has a direct application in the understanding of the molecular mechanisms that are affected in these diseases.

  12. Systolic blood pressure, routine kidney variables and renal ultrasonographic findings in cats naturally infected with feline immunodeficiency virus.

    Science.gov (United States)

    Taffin, Elien Rl; Paepe, Dominique; Ghys, Liesbeth Fe; De Roover, Katrien; Van de Maele, Isabel; Saunders, Jimmy H; Duchateau, Luc; Daminet, Sylvie

    2017-06-01

    Objectives Hypertension is a common cause of proteinuria in HIV-infected people. In cats, feline immunodeficiency virus (FIV) infection appears to be associated with proteinuria. Therefore, the results from systolic blood pressure (SBP) measurements in naturally infected FIV-positive cats were reviewed to assess whether hypertension contributes to the observed proteinuria in these cats. Ultrasonographic findings in FIV-positive cats were reviewed to complete renal assessment and to extend the scant knowledge on renal ultrasonography in cats. Methods Data from client-owned, naturally infected FIV-positive cats were retrospectively reviewed. To obtain a control group, records were reviewed from age-matched, privately owned, FIV-negative cats. Results Data from 91 FIV-infected and 113 control cats were compared. FIV-infected cats showed a significantly lower SBP ( P 0.4) occurred more frequently in FIV-infected cats ( P <0.001). Renal ultrasonography showed abnormalities in 60/91 FIV-infected cats, with hyperechogenic cortices in 39/91 and enlarged kidneys in 31/91. Conclusions and relevance Hypertension can be excluded as a common cause of renal damage leading to proteinuria in FIV-infected cats. Proteinuria and poorly concentrated urine are common in naturally infected FIV-positive cats, in contrast to azotaemia. Clinicians should cautiously interpret ultrasonographic abnormalities as these occur in over half of FIV-infected cats.

  13. The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency

    International Nuclear Information System (INIS)

    Park, J.E.S.; Beal, I.; Dilworth, J.P.; Tormey, V.; Haddock, J.

    2005-01-01

    Approximately 10% of patients with common variable immune deficiency have systemic granulomatous disease with associated interstitial lung disease. From a population of patients with CVID attending a large tertiary referral clinic for primary immunodeficiency diseases we selected a cohort who had a restrictive defect or impaired gas transfer on pulmonary function testing and/or histologically proven granulomatous disease. HRCT scans of the thorax were reviewed retrospectively in 18 patients by two radiologists. Thirteen patients had diffuse reticulation, which varied from fine to coarse with features of fibrosis. Nodules were found in eight patients. In seven, these were associated with reticulation and in one they were an isolated finding. Bronchiectasis was found as the only abnormality in three and in addition to diffuse reticulation or nodules in another three patients. Greater appreciation of the spectrum of the radiological abnormalities in CVID patients with interstitial lung disease is important. Deteriorating lung function in patients with granulomatous CVID may be secondary to interstitial lung disease rather than bronchiectasis, and treatment should be tailored accordingly

  14. The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Park, J.E.S. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Beal, I. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Dilworth, J.P. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Tormey, V. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Haddock, J. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom)]. E-mail: jamandahaddock@royalfree.nhs.uk

    2005-06-01

    Approximately 10% of patients with common variable immune deficiency have systemic granulomatous disease with associated interstitial lung disease. From a population of patients with CVID attending a large tertiary referral clinic for primary immunodeficiency diseases we selected a cohort who had a restrictive defect or impaired gas transfer on pulmonary function testing and/or histologically proven granulomatous disease. HRCT scans of the thorax were reviewed retrospectively in 18 patients by two radiologists. Thirteen patients had diffuse reticulation, which varied from fine to coarse with features of fibrosis. Nodules were found in eight patients. In seven, these were associated with reticulation and in one they were an isolated finding. Bronchiectasis was found as the only abnormality in three and in addition to diffuse reticulation or nodules in another three patients. Greater appreciation of the spectrum of the radiological abnormalities in CVID patients with interstitial lung disease is important. Deteriorating lung function in patients with granulomatous CVID may be secondary to interstitial lung disease rather than bronchiectasis, and treatment should be tailored accordingly.

  15. Structural and functional heart diseases in adult patients with common variable immunodeficiency

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    Julio César Cambray-Gutiérrez

    2015-04-01

    Conclusions: Patients with CVID, despite having a high incidence of bronchiectasis, had low incidence of PAH, but a significant number of patients had PSAP in high cutoff level, so, these patients should be monitored annually, because probably they will evolve to PAH in the future. Also, they have a high incidence of mild valvular regurgitation due to mild degenerative changes with valvular sclerosis, therefore, they also require regular monitoring.

  16. Study of Quality of Life in Adults with Common Variable Immunodeficiency by Using the Questionnaire SF-36

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    Patricia López-Pérez

    2014-03-01

    Full Text Available Background: Quality of life is a multidimensional concept that includes physical, emotional and social components associated with the disease. The use of tools to assess the Quality of Life Health Related (HRQOL has increased in recent decades. Common variable immunode ciency (CVID is the most commonly diagnosed primary immunode ciency. Objective: To evaluate the quality of life in patients with CVID using the questionnaire SF -36. Patients and method: A descriptive cross-sectional survey included 23 patients diagnosed with CVID, belonging to the Immunode ciency Clinic Service of Allergology and Clinical Immunology in CMN Siglo XXI, IMSS. The questionnaire SF- 36 validated in Spanish was applied. Statistical analysis: descriptive statistics with simple frequencies and percentages, inferential statistics: Fisher exact test and ANOVA to compare means. Results: The study involved 23 patients, 14 women (60% and 9 men (40%, mean age 38.6 ± 14.7 years. The highest score was obtained in 83% emotional role. Dimensions with further deterioration in both gen- ders were: 54% general health, vitality 59% and physical performance 72%. No differences were found regarding gender. The only issue in which statistically signi cant differences were found in patients with more than 3 comorbidities was change in health status in the past year (p=0.007. Patients with severe comorbidities, such as haematological-oncological (leukemias, lymphomas, neoplasms, and pulmonary (severe bronchiectasis showed further deterioration in the aspects of physical performance 73% and 64% emotional role. 65% of patients reported an improvement in health status in 74% in the last year. Conclusions: Adult patients with CVID show deterioration in different dimensions, particularly in the areas of general health, vitality and physi- cal performance. Patients with severe comorbidities such as leukemia, lymphomas, malignancies and severe bronchiectasis show further deterioration in some

  17. Effect of changes in human ecology and behavior on patterns of sexually transmitted diseases, including human immunodeficiency virus infection.

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    Wasserheit, J N

    1994-01-01

    The last 20 years have witnessed six striking changes in patterns of sexually transmitted diseases (STDs): emergence of new STD organisms and etiologies, reemergence of old STDs, shifts in the populations in which STDs are concentrated, shifts in the etiological spectra of STD syndromes, alterations in the incidence of STD complications, and increases in antimicrobial resistance. For example, human immunodeficiency virus (HIV) emerged to devastate the United States with a fatal pandemic involving at least 1 million people. The incidence of syphilis rose progressively after 1956 to reach a 40-year peak by 1990. In both cases, disease patterns shifted from homosexual men to include minority heterosexuals. Over the last decade, gonorrhea became increasingly concentrated among adolescents, and several new types of antimicrobial resistance appeared. Three interrelated types of environments affect STD patterns. The microbiologic, hormonal, and immunologic microenvironments most directly influence susceptibility, infectiousness, and development of sequelae. These microenvironments are shaped, in part, by the personal environments created by an individual's sexual, substance-use, and health-related behaviors. The personal environments are also important determinants of acquisition of infection and development of sequelae but, in addition, they mediate risk of exposure to infection. These are, therefore, the environments that most directly affect changing disease patterns. Finally, individuals' personal environments are, in turn, molded by powerful macroenvironmental forces, including socioeconomic, demographic, geographic, political, epidemiologic, and technological factors. Over the past 20 years, the profound changes that have occurred in many aspects of the personal environment and the macroenvironment have been reflected in new STD patterns. PMID:8146135

  18. Natural cytotoxicity in immunodeficiency diseases: preservation of natural killer activity and the in vivo appearance of radioresistant killing

    International Nuclear Information System (INIS)

    Pierce, G.F.; Polmar, S.H.; Schacter, B.Z.; Brovall, C.; Hornick, D.L.; Sorensen, R.U.

    1986-01-01

    We studied spontaneous natural killer (NK) cell activity and radiation-resistant NK mediated cytotoxicity in four patients with clinically documented severe combined immune deficiency disease (SCID), and in one subject each with intestinal lymphangiectasia and cartilage-hair hypoplasia. We observed the preservation of spontaneous NK activity in all patients despite the presence of profound B- and T-lymphocytopenia and clinical immunodeficiency. NK activity was associated with relatively normal circulating numbers of OKM1+ lymphocytes, a population known to contain NK effectors. Spontaneous NK activity resistant to 3000 rad was increased in all patients, indicating the presence of activated natural killer cells in vivo. The concept of a chronically activated immune system in these patients was further supported by the presence of increased Ia positive T cells in all subjects tested, suggesting that radioresistant NK activity may be a useful parameter to measure when assessing in vivo immune activation. Our data, as well as that of others, supports the hypothesis that at least one population of NK cells is a distinct lineage arising at the differentiation level of myeloid and lymphoid stem cells in the bone marrow

  19. Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

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    Sanem Eren Akarcan

    2017-01-01

    Full Text Available Chronic Mucocutaneous Candidiasis (CMC is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF (c.1154 C>T, p.Thr385Met in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT was planned because of severe recurring infections. Patients with STAT1 GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading to morbidity and mortality develops. This case is presented to prompt clinicians to consider STAT1 GOF mutations in the differential diagnosis of patients with chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.

  20. Prevalence and predictors of chronic kidney disease in newly diagnosed human immunodeficiency virus patients in Owerri, Nigeria

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    E N Anyabolu

    2016-01-01

    Full Text Available Human immunodeficiency virus (HIV infection is a common cause of chronic kidney disease (CKD in Sub-Saharan Africa. This study aims at identifying the prevalence and predictors of CKD in newly diagnosed HIV patients in Owerri, South East Nigeria. This was a cross-sectional study consisting of 393 newly diagnosed HIV-seropositive subjects and 136 age- and sex-matched seronegative subjects as controls. CKD was defined as 24-hour urine protein (24-HUP ≥0.3 g and/or glomerular filtration rate (GFR < 60 ml/min. Subjects were recruited from the HIV clinic and the Medical Outpatient Department of Federal Medical Centre, Owerri. Clinical and anthropometric data were collected. Relevant investigations were performed, including HIV screening and relevant urine and blood investigations. The mean age of the HIV subjects was 38.84 ± 10.65 years. CKD was present in 86 (22.9% HIV subjects and 11 (8.l % controls. Low waist circumference (WC, high serum creatinine, high spot urine protein/creatinine ratio (SUPCR, high 24-HUP/creatinine Ratio (24-HUPCR, high 24-HUP/osmolality Ratio (24-HUPOR predicted CKD in HIV subjects. CKD prevalence is high (22.9% among newly diagnosed HIV patients in South East Nigeria. The predictors of CKD included WC, serum creatinine, SUPCR, 24-HUPCR, and 24-HUPOR.

  1. Partial resolution of bone lesions. A child with severe combined immunodeficiency disease and adenosine deaminase deficiency after enzyme-replacement therapy

    International Nuclear Information System (INIS)

    Yulish, B.S.; Stern, R.C.; Polmar, S.H.

    1980-01-01

    A child with severe combined immunodeficiency disease and adenosine deaminase deficiency, with characteristic bone dysplasia, was treated with transfusions of frozen irradiated RBCs as a means of enzyme replacement. This therapy resulted in restoration of immunologic competence and partial resolution of the bone lesions. Although the natural history of these lesions without therapy is not known, enzyme-replacement therapy may have played a role in the resolution of this patient's bone lesions

  2. Associação de imunodeficiências primárias com doenças auto-imunes na infância Primary immunodeficiencies and autoimmune diseases association in childhood

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    Adriana Almeida de Jesus

    2007-12-01

    Pediatric Rheumatology Unit. A retrospective evaluation was performed in patients that presented arthritis as the first clinical manifestation of immunodeficiency. The humoral immunodeficiencies were classified into selective IgA deficiency, hypogammaglobulinemia and IgG subclass deficiency. RESULTS: Eleven patients (0.2% had primary immunodeficiency: selective IgA deficiency occurred in 8, common variable immunodeficiency in two, and IgG subclass deficiency in one. Five of the 11 patients had an acute arthritis and six patients a chronic nonerosive arthritis (JIA-like. From the 253 JIA patients evaluated, 70 had IgA level evaluation done and 6 (8.5% presented complete IgA deficiency (serum IgA < 7 mg/dl (JIA-like. From the 45 JSLE patients with IgA levels evaluated, 3 (6.6% had selective IgA deficiency diagnosis. CONCLUSION: The present study showed a low prevalence of humoral immunodeficiency in patients with rheumatic diseases. However, this association suggests that similar defects in immune response could be related to both diseases and that prospective studies are needed to elucidate this hypothesis.

  3. Partial regulatory T cell depletion prior to acute feline immunodeficiency virus infection does not alter disease pathogenesis.

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    S Rochelle Mikkelsen

    2011-02-01

    Full Text Available Feline immunodeficiency virus (FIV infection in cats follows a disease course similar to HIV-1, including a short acute phase characterized by high viremia, and a prolonged asymptomatic phase characterized by low viremia and generalized immune dysfunction. CD4(+CD25(hiFoxP3(+ immunosuppressive regulatory T (Treg cells have been implicated as a possible cause of immune dysfunction during FIV and HIV-1 infection, as they are capable of modulating virus-specific and inflammatory immune responses. Additionally, the immunosuppressive capacity of feline Treg cells has been shown to be increased during FIV infection. We have previously shown that transient in vivo Treg cell depletion during asymptomatic FIV infection reveals FIV-specific immune responses suppressed by Treg cells. In this study, we sought to determine the immunological influence of Treg cells during acute FIV infection. We asked whether Treg cell depletion prior to infection with the highly pathogenic molecular clone FIV-C36 in cats could alter FIV pathogenesis. We report here that partial Treg cell depletion prior to FIV infection does not significantly change provirus, viremia, or CD4(+ T cell levels in blood and lymphoid tissues during the acute phase of disease. The effects of anti-CD25 mAb treatment are truncated in cats acutely infected with FIV-C36 as compared to chronically infected cats or FIV-naïve cats, as Treg cell levels were heightened in all treatment groups included in the study within two weeks post-FIV infection. Our findings suggest that the influence of Treg cell suppression during FIV pathogenesis is most prominent after Treg cells are activated in the environment of established FIV infection.

  4. Partial regulatory T cell depletion prior to acute feline immunodeficiency virus infection does not alter disease pathogenesis.

    Science.gov (United States)

    Mikkelsen, S Rochelle; Long, Julie M; Zhang, Lin; Galemore, Erin R; VandeWoude, Sue; Dean, Gregg A

    2011-02-25

    Feline immunodeficiency virus (FIV) infection in cats follows a disease course similar to HIV-1, including a short acute phase characterized by high viremia, and a prolonged asymptomatic phase characterized by low viremia and generalized immune dysfunction. CD4(+)CD25(hi)FoxP3(+) immunosuppressive regulatory T (Treg) cells have been implicated as a possible cause of immune dysfunction during FIV and HIV-1 infection, as they are capable of modulating virus-specific and inflammatory immune responses. Additionally, the immunosuppressive capacity of feline Treg cells has been shown to be increased during FIV infection. We have previously shown that transient in vivo Treg cell depletion during asymptomatic FIV infection reveals FIV-specific immune responses suppressed by Treg cells. In this study, we sought to determine the immunological influence of Treg cells during acute FIV infection. We asked whether Treg cell depletion prior to infection with the highly pathogenic molecular clone FIV-C36 in cats could alter FIV pathogenesis. We report here that partial Treg cell depletion prior to FIV infection does not significantly change provirus, viremia, or CD4(+) T cell levels in blood and lymphoid tissues during the acute phase of disease. The effects of anti-CD25 mAb treatment are truncated in cats acutely infected with FIV-C36 as compared to chronically infected cats or FIV-naïve cats, as Treg cell levels were heightened in all treatment groups included in the study within two weeks post-FIV infection. Our findings suggest that the influence of Treg cell suppression during FIV pathogenesis is most prominent after Treg cells are activated in the environment of established FIV infection.

  5. Clinical reactivations of herpes simplex virus type 2 infection and human immunodeficiency virus disease progression markers.

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    Bulbulgul Aumakhan

    Full Text Available BACKGROUND: The natural history of HSV-2 infection and role of HSV-2 reactivations in HIV disease progression are unclear. METHODS: Clinical symptoms of active HSV-2 infection were used to classify 1,938 HIV/HSV-2 co-infected participants of the Women's Interagency HIV Study (WIHS into groups of varying degree of HSV-2 clinical activity. Differences in plasma HIV RNA and CD4+ T cell counts between groups were explored longitudinally across three study visits and cross-sectionally at the last study visit. RESULTS: A dose dependent association between markers of HIV disease progression and degree of HSV-2 clinical activity was observed. In multivariate analyses after adjusting for baseline CD4+ T cell levels, active HSV-2 infection with frequent symptomatic reactivations was associated with 21% to 32% increase in the probability of detectable plasma HIV RNA (trend p = 0.004, an average of 0.27 to 0.29 log10 copies/ml higher plasma HIV RNA on a continuous scale (trend p<0.001 and 51 to 101 reduced CD4+ T cells/mm(3 over time compared to asymptomatic HSV-2 infection (trend p<0.001. CONCLUSIONS: HIV induced CD4+ T cell loss was associated with frequent symptomatic HSV-2 reactivations. However, effect of HSV-2 reactivations on HIV disease progression markers in this population was modest and appears to be dependent on the frequency and severity of reactivations. Further studies will be necessary to determine whether HSV-2 reactivations contribute to acceleration of HIV disease progression.

  6. Infection of immunodeficient horses with Sarcocystis neurona does not result in neurologic disease.

    Science.gov (United States)

    Sellon, Debra C; Knowles, Donald P; Greiner, Ellis C; Long, Maureen T; Hines, Melissa T; Hochstatter, Tressa; Tibary, Ahmed; Dame, John B

    2004-11-01

    Equine protozoal myeloencephalitis is a progressive neurologic disease of horses most commonly caused by infection with the apicomplexan parasite Sarcocystis neurona. Factors affecting neuroinvasion and neurovirulence have not been determined. We investigated the pathogenesis of infection with S. neurona in horses with severe combined immune deficiency (SCID). Two immunocompetent (IC) Arabian horses and two Arabian horses with SCID were infected orally with 5 x 10(5) sporocysts of S. neurona. Four IC horses and one SCID horse were infected intravenously (i.v.) with 5 x 10(8) merozoites of the WSU-1 isolate of S. neurona. Despite prolonged parasitemia and persistent infection of visceral tissues (skeletal muscle, cardiac muscle, lung, liver, and spleen) as demonstrated by PCR and culture, SCID horses did not develop neurologic signs after oral or i.v. infection. S. neurona was undetectable in the neuronal tissues of SCID horses by either PCR, immunohistochemistry, or culture. In contrast, although parasitemia was undetectable in orally infected IC horses and of only short duration in i.v. infected IC horses, four of six IC horses developed neurologic signs. S. neurona was detectable by PCR and/or culture of neural tissue but not visceral tissue of IC horses with neurologic disease. Infected SCID horses are unable to clear S. neurona from visceral tissues, but the infection does not result in neurologic signs; in contrast, IC horses rapidly control parasitemia and infection of visceral tissues but frequently experience neuroinvasion and exhibit clinical signs of neurologic disease.

  7. Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease

    Science.gov (United States)

    2018-04-19

    Bone Marrow Failure Syndrome; Thalassemia; Sickle Cell Disease; Diamond Blackfan Anemia; Acquired Neutropenia in Newborn; Acquired Anemia Hemolytic; Acquired Thrombocytopenia; Hemophagocytic Lymphohistiocytoses; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Common Variable Immunodeficiency; X-linked Lymphoproliferative Disease; Severe Combined Immunodeficiency; Hurler Syndrome; Mannosidosis; Adrenoleukodystrophy

  8. Basics of primary immunodeficiencies

    Directory of Open Access Journals (Sweden)

    Claudia Hernández-Martínez

    2016-05-01

    Full Text Available Primary immunodeficiencies (PID are a heterogeneous group of inherited disorders, the etiology are the defects in the development or function of the immune system. The principal PID manifestations are the infections in early age, malignancy and diseases of immune dysregulation as autoimmunity and allergy. PIDs are genetics disorders and most of them are inherited as autosomal recessive, also this group of diseases is more prevalent in males and in childhood. The antibody immunodeficiency is the PID more common in adults. The more frequent disorders are the infections in the respiratory tract, abscesses, candidiasis, diarrhea, BCGosis etc. Initial approach included a complete blood count and quantification of immunoglobulins. The delay in diagnosis could be explained due to a perception that the recurrent infections are normal process or think that they are exclusively of childhood. The early diagnosis of PID by primary care physicians is important to opportune treatment and better prognosis.

  9. Dengue disease outbreak definitions are implicitly variable

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    Oliver J. Brady

    2015-06-01

    Full Text Available Infectious diseases rarely exhibit simple dynamics. Outbreaks (defined as excess cases beyond response capabilities have the potential to cause a disproportionately high burden due to overwhelming health care systems. The recommendations of international policy guidelines and research agendas are based on a perceived standardised definition of an outbreak characterised by a prolonged, high-caseload, extra-seasonal surge. In this analysis we apply multiple candidate outbreak definitions to reported dengue case data from Brazil to test this assumption. The methods identify highly heterogeneous outbreak characteristics in terms of frequency, duration and case burden. All definitions identify outbreaks with characteristics that vary over time and space. Further, definitions differ in their timeliness of outbreak onset, and thus may be more or less suitable for early intervention. This raises concerns about the application of current outbreak guidelines for early warning/identification systems. It is clear that quantitatively defining the characteristics of an outbreak is an essential prerequisite for effective reactive response. More work is needed so that definitions of disease outbreaks can take into account the baseline capacities of treatment, surveillance and control. This is essential if outbreak guidelines are to be effective and generalisable across a range of epidemiologically different settings.

  10. Emergence of CD134 cysteine-rich domain 2 (CRD2)-independent strains of feline immunodeficiency virus (FIV) is associated with disease progression in naturally infected cats.

    Science.gov (United States)

    Bęczkowski, Paweł M; Techakriengkrai, Navapon; Logan, Nicola; McMonagle, Elizabeth; Litster, Annette; Willett, Brian J; Hosie, Margaret J

    2014-11-28

    Feline immunodeficiency virus (FIV) infection is mediated by sequential interactions with CD134 and CXCR4. Field strains of virus vary in their dependence on cysteine-rich domain 2 (CRD2) of CD134 for infection. Here, we analyse the receptor usage of viral variants in the blood of 39 naturally infected cats, revealing that CRD2-dependent viral variants dominate in early infection, evolving towards CRD2-independence with disease progression. These findings are consistent with a shift in CRD2 of CD134 usage with disease progression.

  11. Comparison of variable region 3 sequences of human immunodeficiency virus type 1 from infected children with the RNA and DNA sequences of the virus populations of their mothers.

    Science.gov (United States)

    Scarlatti, G; Leitner, T; Halapi, E; Wahlberg, J; Marchisio, P; Clerici-Schoeller, M A; Wigzell, H; Fenyö, E M; Albert, J; Uhlén, M

    1993-01-01

    We have compared the variable region 3 sequences from 10 human immunodeficiency virus type 1 (HIV-1)-infected infants to virus sequences from the corresponding mothers. The sequences were derived from DNA of uncultured peripheral blood mononuclear cells (PBMC), DNA of cultured PBMC, and RNA from serum collected at or shortly after delivery. The infected infants, in contrast to the mothers, harbored homogeneous virus populations. Comparison of sequences from the children and clones derived from DNA of the corresponding mothers showed that the transmitted virus represented either a minor or a major virus population of the mother. In contrast to an earlier study, we found no evidence of selection of minor virus variants during transmission. Furthermore, the transmitted virus variant did not show any characteristic molecular features. In some cases the transmitted virus was more related to the virus RNA population of the mother and in other cases it was more related to the virus DNA population. This suggests that either cell-free or cell-associated virus may be transmitted. These data will help AIDS researchers to understand the mechanism of transmission and to plan strategies for prevention of transmission. PMID:8446584

  12. Surface plasmon resonance analysis shows an IgG-isotype-specific defect in ABO blood group antibody formation in patients with common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Michael Bernhard Fischer

    2015-05-01

    Full Text Available Background: Common variable immunodeficiency (CVID is the most common clinically severe primary immunodeficiency and comprises a heterogeneous group of patients with recurrent severe bacterial infections due to the failure to produce IgG antibodies after exposure to infectious agents and immunization. Diagnostic recommendations for antibody failure include assessment of isoagglutinins. We have readdressed this four decades old but still accepted recommendation with up to date methodology.Methods: Anti-A/B IgM- and IgG-antibodies were measured by Diamed-ID Micro Typing, surface plasmon resonance (SPR using the Biacore® device and flow cytometry.Results: When Diamed-ID Micro Typing was used, CVID patients (n=34 showed IgG- and IgM-isoagglutinins that were comparable to healthy volunteers (n=28, while all XLA patients (n=8 had none. Anti-A/B IgM-antibodies were present in more than 2/3 of the CVID patients and showed binding kinetics comparable to anti-A/B IgM-antibodies from healthy individuals. A correlation could be found in CVID patients between levels of anti-A/B IgM-antibodies and levels of serum IgM and PnP-IgM-antibodies. In contrast in CVID patients as a group ABO antibodies were significantly decreased when assessed by SPR, which correlated with levels of switched memory, non-switched memory and naïve B cells, but all CVID patients had low/undetectable anti-A/B IgG-antibodies.Conclusion: These results indicate that conventional isoagglutinin assessment and assessment of anti-A/B IgM antibodies are not suited for the diagnosis of impaired antibody production in CVID. Examination of anti-A/B IgG antibodies by SPR provides a useful method for the diagnosis of IgG antibody failure in all CVID patients studied, thus indicating an important additional rationale to start immunoglobulin replacement therapy early in these patients, before post-infectious sequelae develop.

  13. Sexually transmitted disease (STD) and acquired immunodeficiency syndrome (AIDS) in South East Asia.

    Science.gov (United States)

    Ismail, R

    1999-01-01

    This article reports on the prevalence of AIDS and sexually transmitted diseases (STDs) in Southeast Asia. The spread of HIV infection in this region has been predicted to be worse than that of Africa. The high-prevalence countries are Thailand, Cambodia, and Myanmar, where prevalence rates in the population at risk (15-49 year olds) are up to 2%; while low prevalence countries with rates of 0.1% include the Philippines, Indonesia, Laos, Brunei, and Singapore. Heterosexual transmission in Southeast Asia is the main mode of spread of HIV. Another route is through migration, rural-to-urban or international migration of people seeking jobs; with concurrent loneliness and anonymity, they become vulnerable to STDs and HIV infection. Intravenous drug use poses an increasing risk of transmission. The unavailability of data in some countries makes it difficult to evaluate the extent of the epidemic or if there's an impending epidemic. There are a number of caveats to the data compilation from various countries. These include the following: under-reporting of cases; underdiagnosis; missed diagnosis; and differences in the time of data collection. It is clear that poverty, illiteracy, and poor access to educational information in most countries in this region facilitate the rapid spread of HIV. These coupled with lack of primary health care services, and in most instances, enormously high cost of drugs make the pain and suffering due to the HIV/AIDS epidemic a human disaster far worse than the ravages of war.

  14. [Ear, nose, and throat manifestations in patients with primary immunodeficiencies].

    Science.gov (United States)

    Galicia, G; Betancourt, M A; Canales, L E; Cristerna, L

    1999-01-01

    To determine the flowgram for the timely diagnosis of the immunodeficiencies congenital primary, based on the demonstrations otorrinolaringol recurrent chronicles to difficult control, with or without associated systemic diseases. Retrospective study, descriptive and observational that included patient with diagnostic of primary known immunodeficiency. They were checked the clinical files to know their evolution and medical treatment-surgical. They were found 10 patient with diagnostic of some primary immunodeficiency; this was made based on the infectious symptoms otolaryngal chronic recurrent to difficult control; they were six men and four women between the four and 36 years old. They were found the following immunodeficiencies: one of hyper-IgM, three by IgG, variable common three, a deficit with C3 of the complement, two of IgA more atopia. The chronicle sinusitis or recurrent and the otitis mean chronicle or recurrent can be the only demonstrations of a patient with primary immunodeficiency. The immunology evaluation must include, at least: hematic biometric completes with differential, seric levels of immunoglobulins, the same as subclass of IgG, C4 and C3 of the complement, response to immunization with proteins (diphtheria and tetanus), and polysaccharide antigens (pneumovax).

  15. Disease in a more variable and unpredictable climate

    Science.gov (United States)

    McMahon, T. A.; Raffel, T.; Rohr, J. R.; Halstead, N.; Venesky, M.; Romansic, J.

    2014-12-01

    Global climate change is shifting the dynamics of infectious diseases of humans and wildlife with potential adverse consequences for disease control. Despite this, the role of global climate change in the decline of biodiversity and the emergence of infectious diseases remains controversial. Climate change is expected to increase climate variability in addition to increasing mean temperatures, making climate less predictable. However, few empirical or theoretical studies have considered the effects of climate variability or predictability on disease, despite it being likely that hosts and parasites will have differential responses to climatic shifts. Here we present a theoretical framework for how temperature variation and its predictability influence disease risk by affecting host and parasite acclimation responses. Laboratory experiments and field data on disease-associated frog declines in Latin America support this framework and provide evidence that unpredictable temperature fluctuations, on both monthly and diurnal timescales, decrease frog resistance to the pathogenic chytrid fungus Batrachochytrium dendrobatidis (Bd). Furthermore, the pattern of temperature-dependent growth of the fungus on frogs was inconsistent with the pattern of Bd growth in culture, emphasizing the importance of accounting for the host-parasite interaction when predicting climate-dependent disease dynamics. Consistent with our laboratory experiments, increased regional temperature variability associated with global El Niño climatic events was the best predictor of widespread amphibian losses in the genus Atelopus. Thus, incorporating the effects of small-scale temporal variability in climate can greatly improve our ability to predict the effects of climate change on disease.

  16. Rapid disease progression in human immunodeficiency virus type 1-infected individuals with adverse reactions to trimethoprim-sulfamethoxazole prophylaxis

    NARCIS (Netherlands)

    Veenstra, J.; Veugelers, P. J.; Keet, I. P.; van der Ven, A. J. A. M.; Miedema, F.; Lange, J. M.; Coutinho, R. A.

    1997-01-01

    We studied the relation between the occurrence of adverse reactions to trimethoprim-sulfamethoxazole (TMP-SMZ) prophylaxis and the subsequent course of human immunodeficiency virus (HIV) infection in a cohort of homosexual men. Adverse reactions to TMP-SMZ were associated with a more rapid

  17. Variability of bio-clinical parameters in Chinese-origin Rhesus macaques infected with simian immunodeficiency virus: a nonhuman primate AIDS model.

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    Song Chen

    Full Text Available BACKGROUND: Although Chinese-origin Rhesus macaques (Ch RhMs infected with simian immunodeficiency virus (SIV have been used for many years to evaluate the efficacy of AIDS vaccines and therapeutics, the bio-clinical variability of such a nonhuman primate AIDS model was so far not established. METHODOLOGY/PRINCIPAL FINDINGS: By randomizing 150 (78 male and 72 female Ch RhMs with diverse MHC class I alleles into 3 groups (50 animals per group challenged with intrarectal (i.r. SIVmac239, intravenous (i.v. SIVmac239, or i.v. SIVmac251, we evaluated variability in bio-clinical endpoints for 118 weeks. All SIV-challenged Ch RhMs became seropositive for SIV during 1-2 weeks. Plasma viral load (VL peaked at weeks 1-2 and then declined to set-point levels as from week 5. The set-point VL was 30 fold higher in SIVmac239 (i.r. or i.v.-infected than in SIVmac251 (i.v.-infected animals. This difference in plasma VL increased overtime (>100 fold as from week 68. The rates of progression to AIDS or death were more rapid in SIVmac239 (i.r. or i.v.-infected than in SIVmac251 (i.v.-infected animals. No significant difference in bio-clinical endpoints was observed in animals challenged with i.r. or i.v. SIVmac239. The variability (standard deviation in peak/set-point VL was nearly one-half lower in animals infected with SIVmac239 (i.r. or i.v. than in those infected with SIVmac251 (i.v., allowing that the same treatment-related difference can be detected with one-half fewer animals using SIVmac239 than using SIVmac251. CONCLUSION/SIGNIFICANCE: These results provide solid estimates of variability in bio-clinical endpoints needed when designing studies using the Ch RhM SIV model and contribute to the improving quality and standardization of preclinical studies.

  18. Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

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    Stephan Borte

    Full Text Available There is a need for neonatal screening tools to improve the long-term clinical outcome of patients with primary immunodeficiency diseases (PID. Recently, a PCR-based screening method for both TRECs and KRECs using Guthrie card samples has been developed. However, the applicability of these excision circle assays is limited to patients with severe T or B cell lymphopenia (SCID, XLA and A-T, whereas the most common forms of PID are not detected. Absence of serum IgA is seen in a major fraction of patients with immunological defects. As serum IgA in newborns is considered to be of fetal origin, eluates from routinely collected dried blood spot samples might thus be suitable for identification of children with PID. To assess the applicability of such screening assays, stored Guthrie card samples were obtained from 47 patients with various forms of primary immunodeficiency diseases (SCID, XLA, A-T, HIGM and IgAD, 20 individuals with normal serum IgA levels born to IgA-deficient mothers and 51 matched healthy newborns. Surprisingly, normal serum IgA levels were found in all SCID, XLA, A-T and HIGM patients and, additionally, in all those IgAD patients born to IgA-sufficient mothers. Conversely, no serum IgA was found in any of the 16 IgAD patients born by IgA-deficient mothers. Moreover, half of the IgA-sufficient individuals born by IgA-deficient mothers also lacked IgA at birth whereas no IgA-deficient individuals were found among the controls. IgA in neonatal dried blood samples thus appears to be of both maternal and fetal origin and precludes its use as a reliable marker for neonatal screening of primary immunodeficiency diseases.

  19. Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

    Science.gov (United States)

    Borte, Stephan; Janzi, Magdalena; Pan-Hammarström, Qiang; von Döbeln, Ulrika; Nordvall, Lennart; Winiarski, Jacek; Fasth, Anders; Hammarström, Lennart

    2012-01-01

    There is a need for neonatal screening tools to improve the long-term clinical outcome of patients with primary immunodeficiency diseases (PID). Recently, a PCR-based screening method for both TRECs and KRECs using Guthrie card samples has been developed. However, the applicability of these excision circle assays is limited to patients with severe T or B cell lymphopenia (SCID, XLA and A-T), whereas the most common forms of PID are not detected. Absence of serum IgA is seen in a major fraction of patients with immunological defects. As serum IgA in newborns is considered to be of fetal origin, eluates from routinely collected dried blood spot samples might thus be suitable for identification of children with PID. To assess the applicability of such screening assays, stored Guthrie card samples were obtained from 47 patients with various forms of primary immunodeficiency diseases (SCID, XLA, A-T, HIGM and IgAD), 20 individuals with normal serum IgA levels born to IgA-deficient mothers and 51 matched healthy newborns. Surprisingly, normal serum IgA levels were found in all SCID, XLA, A-T and HIGM patients and, additionally, in all those IgAD patients born to IgA-sufficient mothers. Conversely, no serum IgA was found in any of the 16 IgAD patients born by IgA-deficient mothers. Moreover, half of the IgA-sufficient individuals born by IgA-deficient mothers also lacked IgA at birth whereas no IgA-deficient individuals were found among the controls. IgA in neonatal dried blood samples thus appears to be of both maternal and fetal origin and precludes its use as a reliable marker for neonatal screening of primary immunodeficiency diseases.

  20. Primary immunodeficiency diseases

    African Journals Online (AJOL)

    She hopes to use the knowledge gained to improve immunology diagnostic services in South Africa. Melinda Suchard ... detection of regulatory T cells and indoleamine 2,3 dioxygenase. Dr Suchard runs a diagnostic flow cytometry laboratory for kidney transplant immunology. .... born to a mother who has previously lost.

  1. Primary immunodeficiency diseases

    African Journals Online (AJOL)

    detection of regulatory T cells and indoleamine 2,3 dioxygenase. Dr Suchard runs a diagnostic flow cytometry laboratory for kidney transplant immunology. She co-ordinates a Short ... which help B cells to produce antibody. CD4+ .... SCID: Haematopoietic stem cell transplant ... lymphoma in some recipients. • Phagocytic ...

  2. Lymphoid nodular hyperplasia in a patient with severe combined immunodeficiency disease; Hiperplasia nodular linfoide en un paciente con inmunodeficiencia combinada grave

    Energy Technology Data Exchange (ETDEWEB)

    Sanchez-Alegre, M. L.; Casanova, A.; Delgado, J.; Relanzon, S. [Hospital General Universitario Gregorio Maranon. Madrid (Spain)

    2001-07-01

    We describe a case of lymphoid nodular hyperplasia in a woman with severe combined immunodeficiency disease. the patient complained of constipation and episodes of abdominal pain, and examination revealed the presence of a large abdominal mass. The diagnosis was suspected on the basis of the initial radiological studies, but intestinal biopsy was necessary to rule out lymphomatous involvement. We point out the radiological features of this entity which, despite the fact that it may be a chance finding of no pathological significance, requires special attention, especially in immuno deficient individuals. (Author) 10 refs.

  3. A review on architecture of the gag-pol ribosomal frameshifting RNA in human immunodeficiency virus: a variability survey of virus genotypes.

    Science.gov (United States)

    Qiao, Qi; Yan, Yanhua; Guo, Jinmei; Du, Shuqiang; Zhang, Jiangtao; Jia, Ruyue; Ren, Haimin; Qiao, Yuanbiao; Li, Qingshan

    2017-06-01

    Programmed '-1' ribosomal frameshifting is necessary for expressing the pol gene overlapped from a gag of human immunodeficiency virus. A viral RNA structure that requires base pairing across the overlapping sequence region suggests a mechanism of regulating ribosome and helicase traffic during expression. To get precise roles of an element around the frameshift site, a review on architecture of the frameshifting RNA is performed in combination of reported information with augments of a representative set of 19 viral samples. In spite of a different length for the viral RNAs, a canonical comparison on the element sequence allocation is performed for viewing variability associations between virus genotypes. Additionally, recent and historical insights recognized in frameshifting regulation are looked back as for indel and single nucleotide polymorphism of RNA. As specially noted, structural changes at a frameshift site, the spacer sequence, and a three-helix junction element, as well as two Watson-Crick base pairs near a bulge and a C-G pair close a loop, are the most vital strategies for the virus frameshifting regulations. All of structural changes, which are dependent upon specific sequence variations, facilitate an elucidation about the RNA element conformation-dependent mechanism for frameshifting. These facts on disrupting base pair interactions also allow solving the problem of competition between ribosome and helicase on a same RNA template, common to single-stranded RNA viruses. In a broad perspective, each new insight of frameshifting regulation in the competition systems introduced by the RNA element construct changes will offer a compelling target for antiviral therapy.

  4. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect.

    Science.gov (United States)

    Ravell, Juan; Chaigne-Delalande, Benjamin; Lenardo, Michael

    2014-12-01

    To describe the role of the magnesium transporter 1 (MAGT1) in the pathogenesis of 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia' (XMEN) disease and its clinical implications. The magnesium transporter protein MAGT1 participates in the intracellular magnesium ion (Mg) homeostasis and facilitates a transient Mg influx induced by the activation of the T-cell receptor. Loss-of-function mutations in MAGT1 cause an immunodeficiency named 'XMEN syndrome', characterized by CD4 lymphopenia, chronic EBV infection, and EBV-related lymphoproliferative disorders. Patients with XMEN disease have impaired T-cell activation and decreased cytolytic function of natural killer (NK) and CD8 T cells because of decreased expression of the NK stimulatory receptor 'natural-killer group 2, member D' (NKG2D). Patients may have defective specific antibody responses secondary to T cell dysfunction, but B cells have not been shown to be directly affected by mutations in MAGT1. XMEN disease has revealed a novel role for free intracellular magnesium in the immune system. Further understanding of the MAGT1 signaling pathway may lead to new diagnostic and therapeutic approaches.

  5. Comparison between the Framingham and prospective cardiovascular of Münster scores for risk assessment of coronary heart disease in human immunodeficiency virus-positive patients in Pernambuco, Brazil.

    Science.gov (United States)

    Barros, Zoraya Medeiros; de Alencar Ximenes, Ricardo Arraes; Miranda-Filho, Demócrito Barros; de Albuquerque, Maria de Fátima Pessoa Militão; Melo, Heloísa Ramos Lacerda; Carvalho, Erico Higino; Gelenske, Thais; Diniz, George; Bandeira, Francisco

    2010-12-01

    The Framingham score is used in most studies on human immunodeficiency virus (HIV)-positive patients to estimate the risk for coronary heart disease; however, it may have some limitations for detecting risk among these individuals. The aim of this study was to evaluate the agreement between the Framingham and Prospective Cardiovascular of Münster (PROCAM) scores among HIV-positive individuals and to investigate the factors associated with disagreement between the two scores. A cross-sectional study was conducted in a population of HIV/acquired immunodeficiency syndrome (AIDS) patients attending the outpatient's clinics of two reference centers for HIV/AIDS in Pernambuco, Brazil. Agreement between the Framingham and PROCAM scores was evaluated using the kappa index. From this analysis, a variable called "disagreement between scores" was created, and univariate and multivariate analysis were performed to investigate the factors associated with this variable. The prevalence of low, moderate, and high risk were, respectively, 78.7%, 13.5%, and 7.8% by Framingham score and 88.5%, 4.3%, and 7.2% by PROCAM (kappa = 0.64, P ≤ 0.0001). Agreement in the subgroup with metabolic syndrome by the International Diabetes Federation (IDF) (kappa = 0.51, P ≤ 0.0001) and the National Cholesterol Education Program (NCEP) (kappa = 0.59, P ≤ 0.0001) criteria was moderate. The Framingham score identified greater proportion of women with moderate risk. Factors independently associated with disagreement were: smoking, sex, age, low-density lipoprotein cholesterol, diastolic blood pressure, and metabolic syndrome. There was a good agreement between the Framingham and PROCAM scores in HIV-positive patients, but a higher proportion of moderate-high risk was identified by the Framingham score. This disagreement should be evaluated in cohort studies to observe clinical outcomes over the course of time.

  6. HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama

    Directory of Open Access Journals (Sweden)

    Barton James C

    2003-06-01

    Full Text Available Abstract Background We wanted to quantify HLA-A and -B phenotype and haplotype frequencies in Alabama index patients with common variable immunodeficiency (CVID and selective IgG subclass deficiency (IgGSD, and in control subjects. Methods Phenotypes were detected using DNA-based typing (index cases and microlymphocytotoxicity typing (controls. Results A and B phenotypes were determined in 240 index cases (114 CVID, 126 IgGSD and 1,321 controls and haplotypes in 195 index cases and 751 controls. Phenotyping revealed that the "uncorrected" frequencies of A*24, B*14, B*15, B*35, B*40, B*49, and B*50 were significantly greater in index cases, and frequencies of B*35, B*58, B*62 were significantly lower in index cases. After Bonferroni corrections, the frequencies of phenotypes A*24, B*14, and B*40 were significantly greater in index cases, and the frequency of B*62 was significantly lower in index cases. The most common haplotypes in index cases were A*02-B*44 (frequency 0.1385, A*01-B*08 (frequency 0.1308, and A*03-B*07 (frequency 0.1000, and the frequency of each was significantly greater in index cases than in control subjects ("uncorrected" values of p p p = 0.0166. Most phenotype and haplotype frequencies in CVID and IgGSD were similar. 26.7% of index patients were HLA-haploidentical with one or more other index patients. We diagnosed CVID or IgGSD in first-degree or other relatives of 26 of 195 index patients for whom HLA-A and -B haplotypes had been ascertained; A*01-B*08, A*02-B*44, and A*29-B*44 were most frequently associated with CVID or IgGSD in these families. We conservatively estimated the combined population frequency of CVID and IgGSD to be 0.0092 in adults, based on the occurrence of CVID and IgGSD in spouses of the index cases. Conclusions CVID and IgGSD in adults are significantly associated with several HLA haplotypes, many of which are also common in the Alabama Caucasian population. Immunoglobulin phenotype variability

  7. Neumonía intersticial linfoidea asociada a inmunodeficiencia común variable Interstitial lymphoid pneumonia associated with common variable immunodeficiency

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    Gonzalo Peralta

    2011-10-01

    Full Text Available La neumonía intersticial linfoidea (NIL es una rara entidad, descripta como hiperplasia no neoplásica del tejido linfoide pulmonar y clasificada dentro de las enfermedades intersticiales idiopáticas. Se la ha descripto asociada a infección por HIV, fenómenos autoinmunes, hipergamaglobulinemia policlonal o menos frecuentemente a hipogammaglobulinemia. Presentamos una paciente de 66 años de edad con diabetes mellitus, síndrome de Sjögren e hipertensión arterial, derivada a nuestro centro por tos seca y disnea clase funcional II-III. En el examen físico presentaba rales tipo “velcro” bibasales y esplenomegalia. Los estudios de laboratorio evidenciaron plaquetopenia (50 000/mm³ e hipogammaglobulinemia; la tomografía axial computarizada (TAC de tórax mostró compromiso intersticial bibasal, con nódulos peribroncovasculares menores a un centímetro. Se realizó una videotoracoscopia con biopsia pulmonar, la anatomía patológica mostró hallazgos compatibles con neumonía intersticial linfoidea. Se inició tratamiento con metilprednisona 40 mg/día vía oral e infusión endovenosa de gammaglobulina 500 mg/kg, mensual, evolucionando con mejoría clínico-radiológica. Por persistencia de plaquetopenia, asociada a hiperesplenismo, se realizó esplenectomía con buena respuesta. En la anatomía patológica no se observo clonalidad linfoide.The interstitial lymphoid pneumonia (LIP is an uncommon disorder, described as non-neoplastic lung lymphoid tissue hyperplasia and classified as an interstitial lung disease. It has been described in association with HIV infection, autoimmune disorders, policlonal hypergammaglobulinemia and less frequently, with hypogammaglobulinemia. We report the case of a 66 year old female patient with a history of diabetes, Sjögren syndrome and hypertension. She was referred to our hospital due to a dry cough and dyspnea (FC II-III. The physical examination showed bilateral dry crackles and splenomegaly

  8. Unanticipated increases in hepatic steatosis among human immunodeficiency virus patients receiving mineralocorticoid receptor antagonist eplerenone for non-alcoholic fatty liver disease.

    Science.gov (United States)

    Chaudhury, Chloe S; Purdy, Julia B; Liu, Chia-Ying; Morse, Caryn G; Stanley, Takara L; Kleiner, David; Hadigan, Colleen

    2018-05-01

    Non-alcoholic fatty liver disease is common in human immunodeficiency virus, but there are no approved therapies. The aim of this open-label proof-of-concept study was to determine the effect of the mineralocorticoid receptor antagonist eplerenone on hepatic fat in human immunodeficiency virus-infected patients with hepatic fat ≥5% by magnetic resonance spectroscopy. Five subjects received eplerenone (25 mg daily × 1 week followed by 50 mg daily × 23 weeks). Laboratory tests were done at each visit, and the primary endpoint, change in hepatic fat content, was determined by MRI spectroscopy at baseline and week 24. The study was stopped early after observing unexpected significant increases in hepatic fat at week 24 (mean increase 13.0 ± 7.3%, P = .02). The increases in steatosis were accompanied by a tendency for transaminase values to decrease (alanine aminotransferase mean change -14 ± 16 IU/L, P = .14). There were no consistent changes in other metabolic parameters or blood pressure. Repeat assessment of hepatic steatosis 1-2 months after stopping study medication revealed improvements in steatosis towards baseline values. The unexpected observation of increased hepatic steatosis with the administration of eplerenone led to early termination of the investigation. While limited because of the small number of participants and the open-label design, this study provides data to suggest that mineralocorticoid receptor antagonism with eplerenone may not be an effective approach to treat hepatic steatosis in human immunodeficiency virus or the general population. Additional research is needed to determine the pathophysiological mechanism behind these unanticipated observations. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Vaccine induced antibodies to the first variable loop of human immunodeficiency virus type 1 gp120, mediate antibody-dependent virus inhibition in macaques.

    Science.gov (United States)

    Bialuk, Izabela; Whitney, Stephen; Andresen, Vibeke; Florese, Ruth H; Nacsa, Janos; Cecchinato, Valentina; Valeri, Valerio W; Heraud, Jean-Michel; Gordon, Shari; Parks, Robyn Washington; Montefiori, David C; Venzon, David; Demberg, Thorsten; Guroff, Marjorie Robert-; Landucci, Gary; Forthal, Donald N; Franchini, Genoveffa

    2011-12-09

    The role of antibodies directed against the hyper variable envelope region V1 of human immunodeficiency virus type 1 (HIV-1), has not been thoroughly studied. We show that a vaccine able to elicit strain-specific non-neutralizing antibodies to this region of gp120 is associated with control of highly pathogenic chimeric SHIV(89.6P) replication in rhesus macaques. The vaccinated animal that had the highest titers of antibodies to the amino terminus portion of V1, prior to challenge, had secondary antibody responses that mediated cell killing by antibody-dependent cellular cytotoxicity (ADCC), as early as 2 weeks after infection and inhibited viral replication by antibody-dependent cell-mediated virus inhibition (ADCVI), by 4 weeks after infection. There was a significant inverse correlation between virus level and binding antibody titers to the envelope protein, (R=-0.83, p=0.015), and ADCVI (R=-0.84 p=0.044). Genotyping of plasma virus demonstrated in vivo selection of three SHIV(89.6P) variants with changes in potential N-linked glycosylation sites in V1. We found a significant inverse correlation between virus levels and titers of antibodies that mediated ADCVI against all the identified V1 virus variants. A significant inverse correlation was also found between neutralizing antibody titers to SHIV(89.6) and virus levels (R=-0.72 p=0.0050). However, passive inoculation of purified immunoglobulin from animal M316, the macaque that best controlled virus, to a naïve macaque, resulted in a low serum neutralizing antibodies and low ADCVI activity that failed to protect from SHIV(89.6P) challenge. Collectively, while our data suggest that anti-envelope antibodies with neutralizing and non-neutralizing Fc(R-dependent activities may be important in the control of SHIV replication, they also demonstrate that low levels of these antibodies alone are not sufficient to protect from infection. Published by Elsevier Ltd.

  10. Survival time and effect of selected predictor variables on survival in owned pet cats seropositive for feline immunodeficiency and leukemia virus attending a referral clinic in northern Italy.

    Science.gov (United States)

    Spada, Eva; Perego, Roberta; Sgamma, Elena Assunta; Proverbio, Daniela

    2018-02-01

    Feline immunodeficiency virus (FIV) and feline leukemia virus (FeLV) are among the most important feline infectious diseases worldwide. This retrospective study investigated survival times and effects of selected predictor factors on survival time in a population of owned pet cats in Northern Italy testing positive for the presence of FIV antibodies and FeLV antigen. One hundred and three retrovirus-seropositive cats, 53 FIV-seropositive cats, 40 FeLV-seropositive cats, and 10 FIV+FeLV-seropositive cats were included in the study. A population of 103 retrovirus-seronegative age and sex-matched cats was selected. Survival time was calculated and compared between retrovirus-seronegative, FIV, FeLV and FIV+FeLV-seropositive cats using Kaplan-Meier survival analysis. Cox proportional-hazards regression analysis was used to study the effect of selected predictor factors (male gender, peripheral blood cytopenia as reduced red blood cells - RBC- count, leukopenia, neutropenia and lymphopenia, hypercreatininemia and reduced albumin to globulin ratio) on survival time in retrovirus-seropositive populations. Median survival times for seronegative cats, FIV, FeLV and FIV+FeLV-seropositive cats were 3960, 2040, 714 and 77days, respectively. Compared to retrovirus-seronegative cats median survival time was significantly lower (P<0.000) in FeLV and FIV+FeLV-seropositive cats. Median survival time in FeLV and FIV+FeLV-seropositive cats was also significant lower (P<0.000) when compared to FIV-seropositive cats. Hazard ratio of death in FeLV and FIV+FeLV-seropositive cats being respectively 3.4 and 7.4 times higher, in comparison to seronegative cats and 2.3 and 4.8 times higher in FeLV and FIV+FeLV-seropositive cats as compared to FIV-seropositive cats. A Cox proportional-hazards regression analysis showed that FIV and FeLV-seropositive cats with reduced RBC counts at time of diagnosis of seropositivity had significantly shorter survival times when compared to FIV and Fe

  11. Variable intertidal temperature explains why disease endangers black abalone

    Science.gov (United States)

    Ben-Horin, Tal; Lenihan, Hunter S.; Lafferty, Kevin D.

    2013-01-01

    Epidemiological theory suggests that pathogens will not cause host extinctions because agents of disease should fade out when the host population is driven below a threshold density. Nevertheless, infectious diseases have threatened species with extinction on local scales by maintaining high incidence and the ability to spread efficiently even as host populations decline. Intertidal black abalone (Haliotis cracherodii), but not other abalone species, went extinct locally throughout much of southern California following the emergence of a Rickettsiales-like pathogen in the mid-1980s. The rickettsial disease, a condition known as withering syndrome (WS), and associated mortality occur at elevated water temperatures. We measured abalone body temperatures in the field and experimentally manipulated intertidal environmental conditions in the laboratory, testing the influence of mean temperature and daily temperature variability on key epizootiological processes of WS. Daily temperature variability increased the susceptibility of black abalone to infection, but disease expression occurred only at warm water temperatures and was independent of temperature variability. These results imply that high thermal variation of the marine intertidal zone allows the pathogen to readily infect black abalone, but infected individuals remain asymptomatic until water temperatures periodically exceed thresholds modulating WS. Mass mortalities can therefore occur before pathogen transmission is limited by density-dependent factors.

  12. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

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    Maria Elena Maccari

    2018-03-01

    Full Text Available Activated phosphoinositide 3-kinase (PI3K δ Syndrome (APDS, caused by autosomal dominant mutations in PIK3CD (APDS1 or PIK3R1 (APDS2, is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2. Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission, while bowel inflammation (3 complete, 3 partial, 9 no remission and cytopenia (3 complete, 2 partial, 9 no remission responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies.

  13. Approach to a child with primary immunodeficiency

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    Özge Yılmaz

    2010-09-01

    Full Text Available Primary immunodeficiencies are clinically and epidemiologically important, despite their low prevalence, due to the associated risk of high morbidity and mortality. Most commonly encountered primary immunodeficiencies include humoral immune system deficiencies, cellular immune system defects, combined immunodeficiencies, phagocyte system defects, complement system defects. Classical clinical findings of immunodeficiencies include recurrent, severe infections which do not respond to treatment or which progress with complications as well as tendency to develop infections with low virulence microorganisms. Moreover, they may present with autoimmunity, autoinflammatory or hemaphagocytic syndromes. Congenital diseases usually start in early childhood and lead to morbidity and mortality. Therefore, early diagnosis may be life saving and allow increasing quality of life, genetic counseling or prenatal diagnosis. Considering primary immunodeficiencies more frequently in differential diagnosis and early immunological evaluation would lead to early diagnosis of these patients and allow them to reach early treatment or preventive measures.

  14. Non-ST Elevation Myocardial Infarction and Severe Peripheral Artery Disease in a 20-Year-Old with Perinatally Acquired Human Immunodeficiency Virus Infection

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    Purva Sharma

    2018-01-01

    Full Text Available Human immunodeficiency virus (HIV infection confers an increased risk of cardiovascular disease, including acute coronary syndrome (ACS. Patients with perinatally acquired HIV may be at increased risk due to the viral infection itself and exposure to HAART in utero or as part of treatment. A 20-year-old female with transplacentally acquired HIV infection presented with symptoms of transient aphasia, headache, palpitations, and blurry vision. She was admitted for hypertensive emergency with blood pressure 203/100 mmHg. Within a few hours, she complained of typical chest pain, and ECG showed marked ST depression. Troponin I levels escalated from 0.115 to 10.8. She underwent coronary angiogram showing 95% stenosis of the right coronary artery (RCA and severe peripheral arterial disease including total occlusion of both common iliacs and 95% infrarenal aortic stenosis with collateral circulation. She underwent successful percutaneous intervention with a drug-eluting stent to the mid-RCA. Patients with HIV are at increased risk for cardiovascular disease. Of these, coronary artery disease is one of the most critical complications of HIV. Perinatally acquired HIV infection can be a high-risk factor for cardiovascular disease. A high degree of suspicion is warranted in such patients, especially if they are noncompliant to their ART.

  15. Fibrocystic disease of breast: variable mammographic and sonography appearance

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    Han, Heon; Cha, Yoo Mi; Yang, Joo Hyun; Song, Ek Hyun; Hwang, Hee Yong; Chung, Hyo Sun; Park, Sung Hye [Chung Ang Gil Hospital, Incheon (Korea, Republic of)

    1993-12-15

    Fibrocystic disease of the breast is a frequent cause of abnormal mammogram and ultrasonogram in patients with breast pain. The differentiation of fibrocystic disease form fibroadenoma or carcinoma is often difficult. The present study was performed to evaluate the mammographic and sonographic features of fibrocystic disease of the breast Mammograms and sonogram s of 45 patients with pathologically proven fibrocystic disease of breast were analyzed and correlated retrospectively with the pathologic specimens. Clinically the patients had palpable breast lumps or focal skin thickening. The patients were aged 19 to 64 years(average, 37 years) Histologic examination of 29 patients with abnormal findings in mammograms and/or sonograms revealed stromal fibrosis in 28(97%), cyst formation in 24(83%), epithelial hyperplasia in 29(90%), apocrine metaplasia in 7 (24%), chronic inflammation in 15 (52%), fibroadenomatous change in 2 (7%), large pseudocyst formation in 2 (7%), calcification in 1 (3%), and/or chondroid maseptol in 1 (3%). Of 43 patients with mammograms, 23 showed no detectable lesion, even in retrospect, because of dense mammograms there were well marginated mass in 7, poorly marginated mass in 4, multiple small nodules in 2, mixed density radio opaque mass in 3, radiolucent mass in one, and asymmetrical dense breast in 3. One case had calcification within the mass, and another one had very high density nodules that showed chondroid metaplasia. In 14 patients with sonograms, the echogenicity was variable; anechoic in 2, hypoechoic in 8, isoechoic in 3, or mixed echoic in one. The shape of the lesion was round in 2, ovoid in 8, tubular in 2, and irregular in 2. The margin was well marginated in 11 and poorly marginated in 3. Fibrocystic breast disease, which is a frequent cause of breast lumps, has variable findings in mammograms and sonograms. Therefore, fibrocystic disease should be included in the differential diagnosis of breast mass when the typical

  16. Fibrocystic disease of breast: variable mammographic and sonography appearance

    International Nuclear Information System (INIS)

    Han, Heon; Cha, Yoo Mi; Yang, Joo Hyun; Song, Ek Hyun; Hwang, Hee Yong; Chung, Hyo Sun; Park, Sung Hye

    1993-01-01

    Fibrocystic disease of the breast is a frequent cause of abnormal mammogram and ultrasonogram in patients with breast pain. The differentiation of fibrocystic disease form fibroadenoma or carcinoma is often difficult. The present study was performed to evaluate the mammographic and sonographic features of fibrocystic disease of the breast Mammograms and sonogram s of 45 patients with pathologically proven fibrocystic disease of breast were analyzed and correlated retrospectively with the pathologic specimens. Clinically the patients had palpable breast lumps or focal skin thickening. The patients were aged 19 to 64 years(average, 37 years) Histologic examination of 29 patients with abnormal findings in mammograms and/or sonograms revealed stromal fibrosis in 28(97%), cyst formation in 24(83%), epithelial hyperplasia in 29(90%), apocrine metaplasia in 7 (24%), chronic inflammation in 15 (52%), fibroadenomatous change in 2 (7%), large pseudocyst formation in 2 (7%), calcification in 1 (3%), and/or chondroid maseptol in 1 (3%). Of 43 patients with mammograms, 23 showed no detectable lesion, even in retrospect, because of dense mammograms there were well marginated mass in 7, poorly marginated mass in 4, multiple small nodules in 2, mixed density radio opaque mass in 3, radiolucent mass in one, and asymmetrical dense breast in 3. One case had calcification within the mass, and another one had very high density nodules that showed chondroid metaplasia. In 14 patients with sonograms, theechogenicity was variable ; anechoic in 2, hypoechoic in 8, isoechoic in 3, or mixed echoic in one. The shape of the lesion was round in 2, ovoid in 8, tubular in 2, and irregular in 2. The margin was well marginated in 11 and poorly marginated in 3. Fibrocystic breast disease, which is a frequent cause of breast lumps, has variable findings in mammograms and sonograms. Therefore, fibrocystic disease should be included in the differential diagnosis of breast mass when the typical

  17. Radiological pulmonary manifestations of acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Marchiori, Edson; Melo, Alessandro Severo Alves de; Ossa, Alfonso Jaramillo

    1999-01-01

    In this article are reviewed the principal radiologic manifestations of inflammatory and tumoral diseases the compromise the lungs of patients with acquired immunodeficiency syndrome. In the group of inflammatory diseases the radiologic aspects of pneumocystosis, cytomegalovirus disease, cryptococcosis, tuberculosis and bacterial pneumonias are emphasized. In the neoplasic diseases' group the aspects of lymphoma and Kaposi's sarcoma are specially presented. (author)

  18. Multi-taxa integrated landscape genetics for zoonotic infectious diseases: deciphering variables influencing disease emergence.

    Science.gov (United States)

    Leo, Sarah S T; Gonzalez, Andrew; Millien, Virginie

    2016-05-01

    Zoonotic disease transmission systems involve sets of species interacting with each other and their environment. This complexity impedes development of disease monitoring and control programs that require reliable identification of spatial and biotic variables and mechanisms facilitating disease emergence. To overcome this difficulty, we propose a framework that simultaneously examines all species involved in disease emergence by integrating concepts and methods from population genetics, landscape ecology, and spatial statistics. Multi-taxa integrated landscape genetics (MTILG) can reveal how interspecific interactions and landscape variables influence disease emergence patterns. We test the potential of our MTILG-based framework by modelling the emergence of a disease system across multiple species dispersal, interspecific interaction, and landscape scenarios. Our simulations showed that both interspecific-dependent dispersal patterns and landscape characteristics significantly influenced disease spread. Using our framework, we were able to detect statistically similar inter-population genetic differences and highly correlated spatial genetic patterns that imply species-dependent dispersal. Additionally, species that were assigned coupled-dispersal patterns were affected to the same degree by similar landscape variables. This study underlines the importance of an integrated approach to investigating emergence of disease systems. MTILG is a robust approach for such studies and can identify potential avenues for targeted disease management strategies.

  19. Ethnic variability in adiposity and cardiovascular risk: the variable disease selection hypothesis.

    Science.gov (United States)

    Wells, Jonathan C K

    2009-02-01

    Evidence increasingly suggests that ethnic differences in cardiovascular risk are partly mediated by adipose tissue biology, which refers to the regional distribution of adipose tissue and its differential metabolic activity. This paper proposes a novel evolutionary hypothesis for ethnic genetic variability in adipose tissue biology. Whereas medical interest focuses on the harmful effect of excess fat, the value of adipose tissue is greatest during chronic energy insufficiency. Following Neel's influential paper on the thrifty genotype, proposed to have been favoured by exposure to cycles of feast and famine, much effort has been devoted to searching for genetic markers of 'thrifty metabolism'. However, whether famine-induced starvation was the primary selective pressure on adipose tissue biology has been questioned, while the notion that fat primarily represents a buffer against starvation appears inconsistent with historical records of mortality during famines. This paper reviews evidence for the role played by adipose tissue in immune function and proposes that adipose tissue biology responds to selective pressures acting through infectious disease. Different diseases activate the immune system in different ways and induce different metabolic costs. It is hypothesized that exposure to different infectious disease burdens has favoured ethnic genetic variability in the anatomical location of, and metabolic profile of, adipose tissue depots.

  20. Pulmonary manifestation of immunoglobulin G4-related disease in a 7-year-old immunodeficient boy with Epstein-Barr virus infection: a case report.

    Science.gov (United States)

    Szczawinska-Poplonyk, Aleksandra; Wojsyk-Banaszak, Irena; Jonczyk-Potoczna, Katarzyna; Breborowicz, Anna

    2016-06-08

    Immunoglobulin G4-related disease (IgG4-RD) is a multiorgan fibroinflammatory condition with lymphoplasmacytic infiltrates containing abundant IgG4-positive plasma cells. The immunopathogenesis of the disease and the potential role of triggering autoantigens or infectious factors have not been clearly defined. Immunoglobulin G4-related lung disease is a new and emerging condition in pediatric patients and to date, there have been only two reports regarding pulmonary manifestation of IgG4-RD in children recently published. This is the first report of IgG4-related lung disease in an immunodeficient child with Epstein-Barr virus infection. We report on the case of a 7-year old atopic boy who was hospitalized with an initial clinical and radiological diagnosis of pneumonia, positive Epstein-Barr virus (EBV)-DNA in the blood and defective adaptive immunity. The lung CT showed a consolidated mass lesion adjacent to the posterior wall of the chest and the diaphragm. The child underwent surgical resection of the tumor, and the histologic examination of the lung specimens revealed lymphoplasmacytic infiltrates with fibrosis and vasculitis correlating with IgG4-related lung disease. Subsequent monitoring of the patient with lung CT, pulmonary function tests and IgG4 levels did not show signs of active disease. The diagnosis of IgG4-related lung disease in children is challenging because of its rarity, nonspecific symptomatology and heterogeneous morphological manifestations. Further studies are required in children with pulmonary presentation of IgG4-RD to better understand pathogenesis of this condition, possible immunological or infectious triggering factors, and finally, to determine pediatric patient-targeted therapeutic interventions.

  1. Long-term outcomes of liver transplant patients with human immunodeficiency virus infection and end-stage-liver-disease: single center experience

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    Vernadakis S

    2011-08-01

    Full Text Available Abstract Objective Orthotopic-liver-transplantation (OLT in patients with Human-Immunodeficiency-Virus infection (HIV and end-stage-liver-disease (ESDL is rarely reported. The purpose of this study is to describe our institutional experience on OLT for HIV positive patients. Material and methods This is a retrospective study of all HIV-infected patients who underwent OLT at the University Hospital of Essen, from January 1996 to December 2009. Age, sex, HIV transmission-way, CDC-stage, etiology of ESDL, concomitant liver disease, last CD4cell count and HIV-viral load prior to OLT were collected and analysed. Standard calcineurin-inhibitors-based immunosuppression was applied. All patients received anti-fungal and anti-pneumocystis carinii pneumonia prophylaxis post-OLT. Results Eight transplanted HIV-infected patients with a median age of 46 years (range 35-61 years were included. OLT indications were HCV (n = 5, HBV (n = 2, HCV/HBV/HDV-related cirrhosis (n = 1 and acute liver-failure (n = 1. At OLT, CD4 cell-counts ranged from 113-621 cells/μl, and HIV viral-loads from Conclusions OLT in HIV-infected patients and ESLD is an acceptable therapeutic option in selected patients. Long-term survival can be achieved without HIV disease-progression under antiretroviral therapy and management of the viral hepatitis co-infection.

  2. Variability of CSF Alzheimer's disease biomarkers: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Stephanie J B Vos

    Full Text Available BACKGROUND: Cerebrospinal fluid (CSF biomarkers are increasingly being used for diagnosis of Alzheimer's disease (AD. OBJECTIVE: We investigated the influence of CSF intralaboratory and interlaboratory variability on diagnostic CSF-based AD classification of subjects and identified causes of this variation. METHODS: We measured CSF amyloid-β (Aβ 1-42, total tau (t-tau, and phosphorylated tau (p-tau by INNOTEST enzyme-linked-immunosorbent assays (ELISA in a memory clinic population (n = 126. Samples were measured twice in a single or two laboratories that served as reference labs for CSF analyses in the Netherlands. Predefined cut-offs were used to classify CSF biomarkers as normal or abnormal/AD pattern. RESULTS: CSF intralaboratory variability was higher for Aβ1-42 than for t-tau and p-tau. Reanalysis led to a change in biomarker classification (normal vs. abnormal of 26% of the subjects based on Aβ1-42, 10% based on t-tau, and 29% based on p-tau. The changes in absolute biomarker concentrations were paralleled by a similar change in levels of internal control samples between different assay lots. CSF interlaboratory variability was higher for p-tau than for Aβ1-42 and t-tau, and reanalysis led to a change in biomarker classification of 12% of the subjects based on Aβ1-42, 1% based on t-tau, and 22% based on p-tau. CONCLUSIONS: Intralaboratory and interlaboratory CSF variability frequently led to change in diagnostic CSF-based AD classification for Aβ1-42 and p-tau. Lot-to-lot variation was a major cause of intralaboratory variability. This will have implications for the use of these biomarkers in clinical practice.

  3. Knowledge, attitude, and perception of disease among persons living with human immunodeficiency virus/acquired immuno deficiency syndrome: A study from a tertiary care center in North India.

    Science.gov (United States)

    Gupta, Mrinal; Mahajan, Vikram K; Chauahn, Pushpinder S; Mehta, Karainder S; Rawat, Ritu; Shiny, T N

    2016-01-01

    Although modification of behavioral practices among human immunodeficiency virus (HIV)-affected patients is important in decreasing HIV disease transmission, the knowledge, attitude, and perception studies about HIV infection rarely include persons living with HIV/acquired immuno deficiency syndrome (AIDS). To assess knowledge, attitude, and perceptions of persons living with HIV/AIDS for the disease and other epidemiological aspects. One-hundred and fifty consecutive persons living with HIV/AIDS were enrolled for this questionnaire-based cross-sectional, descriptive study. These 150 patients comprised 93 men and 57 women, aged between 14 and 78 (mean 37.13) years. The majority, 112 (74.67%) patients were between 20 and 50 years of age and 116 (77.3%) patients were either illiterate or high-school dropouts. Drivers, laborers, and self-employed comprised 69 (74.2%) patients among affected males. Only 129 (86%) respondents had heard about HIV/AIDS and knew about its heterosexual transmission. Ninety-eight (65.3%) respondents were aware of disease transmission from infected blood or needle pricks. Interestingly, 106 (70.7%) respondents were aware of the importance of using condom in preventing disease transmission. Television/radio was the most common sources of information for 135 (90%) patients. Nearly, 69% respondents disfavored disclosing their disease to friends/colleagues fearing stigmatization. Information, education, and communication activities are imperative to educate persons living with HIV/AIDS about life-long nature of the disease, modes of its transmission, and significance of preventive measures to bridge the gaps in their knowledge. While improvement in individual economic status, education, and health services remains highly desirable, mass media can play a pivotal role in creating awareness among masses.

  4. Autoimmunity and primary immunodeficiency: two sides of the same coin?

    Science.gov (United States)

    Schmidt, Reinhold E; Grimbacher, Bodo; Witte, Torsten

    2017-12-19

    Autoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions; however, increased understanding of the complex immune regulatory and signalling mechanisms involved, coupled with the application of genetic analysis, is revealing the complex relationships between primary immunodeficiency syndromes and autoimmune diseases. Single-gene defects can cause rare diseases that predominantly present with autoimmune symptoms. Such genetic defects also predispose individuals to recurrent infections (a hallmark of immunodeficiency) and can cause primary immunodeficiencies, which can also lead to immune dysregulation and autoimmunity. Moreover, risk factors for polygenic rheumatic diseases often exist in the same genes as the mutations that give rise to primary immunodeficiency syndromes. In this Review, various primary immunodeficiency syndromes are presented, along with their pathogenetic mechanisms and relationship to autoimmune diseases, in an effort to increase awareness of immunodeficiencies that occur concurrently with autoimmune diseases and to highlight the need to initiate appropriate genetic tests. The growing knowledge of various genetically determined pathologic mechanisms in patients with immunodeficiencies who have autoimmune symptoms opens up new avenues for personalized molecular therapies that could potentially treat immunodeficiency and autoimmunity at the same time, and that could be further explored in the context of autoimmune rheumatic diseases.

  5. Chlamydia trachomatis in human immunodeficiency virus-infected men treated at a referral hospital for sexually transmitted diseases in the Amazonas, Brazil

    Directory of Open Access Journals (Sweden)

    Alex Panizza Jalkh

    2014-03-01

    Conclusion: The high prevalence of C. trachomatis infection among human immunodeficiency virus-infected men highlights that screening human immunodeficiency virus-infected men for C. trachomatis, especially among men having sex with men, is paramount to control the spread of C. trachomatis infection.

  6. Intraindividual variability as a marker of neurological dysfunction: a comparison of Alzheimer's disease and Parkinson's disease.

    Science.gov (United States)

    Burton, Catherine L; Strauss, Esther; Hultsch, David F; Moll, Alex; Hunter, Michael A

    2006-01-01

    Individuals with certain neurological conditions may demonstrate greater inconsistency (i.e., intraindividual variability) on cognitive tasks compared to healthy controls. Several researchers have suggested that intraindividual variability may be a behavioral marker of compromised neurobiological mechanisms associated with aging, disease, or injury. The present study sought to investigate whether intraindividual variability is associated with general nervous system compromise, or rather, with certain types of neurological disturbances by comparing healthy adults, adults with Alzheimer's disease (AD), and Parkinson's disease (PD). Participants were assessed on four separate occasions using measures of reaction time and memory. Results indicated that inconsistency was correlated with indices of severity of impairment suggesting a dose-response relationship between cognitive disturbance and intraindividual variability: the more severe the cognitive disturbance, the greater the inconsistency. However, participants with AD were more inconsistent than those with PD, with both groups being more variable than the healthy group, even when controlling for group differences in overall severity of cognitive impairment or cognitive decline. Consequently, intraindividual variability may index both the severity of cognitive impairment and the nature of the neurological disturbance.

  7. [Peripheral arterial disease and cardiovascular risk factors among patients infected with human immunodeficiency virus: a comparison between hospital out-patients and patients in a prison].

    Science.gov (United States)

    Mauri Pont, Marta; Borrallo Almansa, Rosa Maria; Almada Rivas, Guido; Carbó Díez, Miriam; Solé Arnau, Rosa; García Restoy, Enric

    2014-01-01

    Cardiovascular disease among human immunodeficiency virus (HIV) infected patients is more frequent than in the general population. Peripheral arterial disease measured by ankle-brachial index (ABI) and cardiovascular risk factors (CVRF) is not well known in all groups of HIV-infected patients. Transversal study of HIV-infected patients >45 years, seen as outpatients in hospital (HO) in 2008 and patients institutionalized in a prison in 2009. Cardiovascular risk factors, information on the HIV infection and healthy lifestyles were evaluated. ABI was measured at rest and was considered pathological when a value ≤ 0.9 or ≥ 1.3 was obtained. We included 71 patients (mean age of 50.6 ± 6.9 years, 86% male), 32 HO and 39 in prison. The most prevalent CVRF was smoking (80.2%) followed by an altered lipid profile (63.3%). The evolution time of HIV infection was 13.1 ± 7.1 years. 74.6% of patients didn't follow a heart-healthy diet and 25% were sedentary. The ABI was low in 7 cases (9.8%) and ≥ 1.3 in one. Patients in prison were younger, the rate of smokers and of individuals with low HDL were higher, the time of evolution of the HIV infections was longer and they were less adherent to a heart-healthy diet than in HO, reaching in all cases statistical significance (Pde Arteriosclerosis. Published by Elsevier España. All rights reserved.

  8. Evaluating disease management programme effectiveness: an introduction to instrumental variables.

    Science.gov (United States)

    Linden, Ariel; Adams, John L

    2006-04-01

    This paper introduces the concept of instrumental variables (IVs) as a means of providing an unbiased estimate of treatment effects in evaluating disease management (DM) programme effectiveness. Model development is described using zip codes as the IV. Three diabetes DM outcomes were evaluated: annual diabetes costs, emergency department (ED) visits and hospital days. Both ordinary least squares (OLS) and IV estimates showed a significant treatment effect for diabetes costs (P = 0.011) but neither model produced a significant treatment effect for ED visits. However, the IV estimate showed a significant treatment effect for hospital days (P = 0.006) whereas the OLS model did not. These results illustrate the utility of IV estimation when the OLS model is sensitive to the confounding effect of hidden bias.

  9. Association between feline immunodeficiency virus (FIV) plasma viral RNA load, concentration of acute phase proteins and disease severity.

    Science.gov (United States)

    Kann, Rebecca K C; Seddon, Jennifer M; Kyaw-Tanner, Myat T; Henning, Joerg; Meers, Joanne

    2014-08-01

    Veterinarians have few tools to predict the rate of disease progression in FIV-infected cats. In contrast, in HIV infection, plasma viral RNA load and acute phase protein concentrations are commonly used as predictors of disease progression. This study evaluated these predictors in cats naturally infected with FIV. In older cats (>5 years), log10 FIV RNA load was higher in the terminal stages of disease compared to the asymptomatic stage. There was a significant association between log10 FIV RNA load and both log10 serum amyloid A concentration and age in unwell FIV-infected cats. This study suggests that viral RNA load and serum amyloid A warrant further investigation as predictors of disease status and prognosis in FIV-infected cats. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. [Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].

    Science.gov (United States)

    Fayand, A; Sarrabay, G; Belot, A; Hentgen, V; Kone-Paut, I; Grateau, G; Melki, I; Georgin-Lavialle, S

    2018-04-01

    Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. Besides its role in the purine metabolism, it has been postulated that ADA2 may act as a growth factor for endothelial cells and in the differenciation of monocytes. Thus, deficiency of ADA2 would lead to endothelial damage and a skewing of monocytes into M1 pro-inflammatory macrophage, causing DADA2 manifestations. Three core clinical features have been described: inflammatory-vascular signs, hematologic abnormalities and immunodeficiency. Clinically, patients display intermittent fever, cutaneous vascular manifestations, such as livedo, ischemic strokes, arthralgia and abdominal pain crisis. Corticosteroids and immunosuppressive agents (i.e. cyclophosphamide, azathioprine, ciclosporin, methotrexate) appear to be poorly effective. Although the mechanism has not been elucidated, anti-TNF agents have been proven efficient in DADA2 and should therefore be used as first line therapy for vasculitis. Role of anti-platelet and anticoagulant therapies in stroke-prophylaxis remains to be discussed, as those patients display a high risk of intracranial bleeding. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  11. Effectiveness of the VOICES/VOCES sexually transmitted disease/human immunodeficiency virus prevention intervention when administered by health department staff: does it work in the "real world"?

    Science.gov (United States)

    Neumann, Mary Spink; O'Donnell, Lydia; Doval, Alexi San; Schillinger, Julia; Blank, Susan; Ortiz-Rios, Elizabeth; Garcia, Trinidad; O'Donnell, Carl R

    2011-02-01

    Prevention providers wonder whether benefits achieved in the original, researcher-led, efficacy trials of interventions are replicated when the intervention is delivered in real-world settings by their agency's staff. A replication study was conducted at 2 public sexually transmitted disease (STD) clinics (New York City and San Juan, PR). Using a controlled trial design, intervention (VOICES/VOCES) and comparison conditions (regular clinic services) were assigned in alternating 4-week blocks. Trained agency staff delivered the intervention. Effectiveness was assessed for incident STDs, redemption of coupons for condoms at neighborhood location after the visit, and improved knowledge and attitudes about STDs and condoms. A total of 3365 patients were recruited, completed the protocol, and followed through STD surveillance systems for an average of 17 months. Of 397 with an incident infection, 226 (13.4%) were among those enrolled during comparison blocks; 171 were among those in the intervention condition (10.2%). Controlling for site and gender, participants enrolled during intervention blocks were significantly less likely to have an incident STD reported to the surveillance system (hazard ratio, 0.78; 95% confidence interval, 0.64-0.96). Intervention block participants scored higher on scales of STD knowledge (4.89 vs. 3.87, P VOCES redeemed condoms (P < 0.05). Positive effects were more consistent in New York, which may be related to fidelity of implementation. A packaged human immunodeficiency virus prevention intervention can be delivered by agencies, with benefits similar to those achieved in the research setting.

  12. Radiologic approach to the diagnosis of infectious pulmonary diseases in patients infected with the human immunodeficiency virus

    International Nuclear Information System (INIS)

    Castaner, Eva; Gallardo, Xavier; Maria Mata, Josep; Esteba, Lola

    2004-01-01

    Nearly all patients infected with HIV experience respiratory infection at some point in the course of their illness. The spectrum of infections is varied and in order to generate a useful differential diagnosis based on imaging findings it is imperative for the radiologist to be aware of changing trends in disease prevalence and epidemiology, and the possible pathology related to new therapies. The characterization of the radiographic pattern in correlation with clinical findings and laboratory values (in particular the degree of immunosuppression as reflected in the CD4 level) would be helpful in narrowing the differential diagnosis of infectious pulmonary disease in HIV-positive patients. The most common radiologic patterns considered include areas of ground-glass, consolidation, nodules, and lymphadenopathy. We also include airways diseases and cavitary/cystic lesions because their prevalence has increased over recent years, and we also mention the significance of a normal chest radiograph in the suspicion of a lung infection. In most cases, the clinical and radiographic findings are sufficient for confident diagnosis. The radiologic diagnosis of thoracic infections in patients with AIDS has improved with the use of CT. The greatest value of CT is in excluding lung disease when the radiographic findings are equivocal and in confirming the presence of clinically suspected disease when the radiograph is normal

  13. Consanguinity and primary immunodeficiencies.

    Science.gov (United States)

    Al-Herz, Waleed; Aldhekri, Hasan; Barbouche, Mohamed-Ridha; Rezaei, Nima

    2014-01-01

    Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families. © 2014 S. Karger AG, Basel.

  14. Cost Analysis and Performance Assessment of Partner Services for Human Immunodeficiency Virus and Sexually Transmitted Diseases, New York State, 2014.

    Science.gov (United States)

    Johnson, Britney L; Tesoriero, James; Feng, Wenhui; Qian, Feng; Martin, Erika G

    2017-12-01

    To estimate the programmatic costs of partner services for HIV, syphilis, gonorrhea, and chlamydial infection. New York State and local health departments conducting partner services activities in 2014. A cost analysis estimated, from the state perspective, total program costs and cost per case assignment, patient interview, partner notification, and disease-specific key performance indicator. Data came from contracts, a time study of staff effort, and statewide surveillance systems. Disease-specific costs per case assignment (mean: $580; range: $502-$1,111), patient interview ($703; $608-$1,609), partner notification ($1,169; $950-$1,936), and key performance indicator ($2,697; $1,666-$20,255) varied across diseases. Most costs (79 percent) were devoted to gonorrhea and chlamydial infection investigations. Cost analysis complements cost-effectiveness analysis in evaluating program performance and guiding improvements. © Health Research and Educational Trust.

  15. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  16. Changes in Liver Steatosis After Switching From Efavirenz to Raltegravir Among Human Immunodeficiency Virus-Infected Patients With Nonalcoholic Fatty Liver Disease.

    Science.gov (United States)

    Macías, Juan; Mancebo, María; Merino, Dolores; Téllez, Francisco; Montes-Ramírez, M Luisa; Pulido, Federico; Rivero-Juárez, Antonio; Raffo, Miguel; Pérez-Pérez, Montserrat; Merchante, Nicolás; Cotarelo, Manuel; Pineda, Juan A

    2017-09-15

    Antiretroviral drugs with a lower potential to induce hepatic steatosis in human immunodeficiency virus (HIV) infection need to be identified. We compared the effect of switching efavirenz (EFV) to raltegravir (RAL) on hepatic steatosis among HIV-infected patients with nonalcoholic fatty liver disease (NAFLD) receiving EFV plus 2 nucleoside analogues. HIV-infected patients on EFV plus tenofovir/emtricitabine or abacavir/lamivudine with NAFLD were randomized 1:1 to switch from EFV to RAL (400 mg twice daily), maintaining nucleoside analogues unchanged, or to continue with EFV plus 2 nucleoside analogues. At baseline, eligible patients should show controlled attenuation parameter (CAP) values ≥238 dB/m. Changes in hepatic steatosis at 48 weeks of follow-up over baseline levels were measured by CAP. Overall, 39 patients were included, and 19 of them were randomized to switch to RAL. At week 48, median CAP for the RAL group was 250 (Q1-Q3, 221-277) dB/m and 286 (Q1-Q3, 269-314) dB/m for the EFV group (P = .035). The median decrease in CAP values was -20 (Q1-Q3, -67 to 15) dB/m for the RAL arm and 30 (Q1-Q3, -17 to 49) dB/m for the EFV group (P = .011). CAP values hepatic steatosis, as measured by CAP, compared with those continuing with EFV. In addition, the proportion of patients without significant hepatic steatosis after 48 weeks was greater for those who switched to RAL. NCT01900015. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

  17. Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

    Science.gov (United States)

    Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

    2007-08-01

    Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

  18. Radiographic findings in immunodeficiency

    International Nuclear Information System (INIS)

    Obregon, R.; Lynch, D.A.; Cink, T.M.; Newell, J.D.; Kirkpatrick, C.

    1991-01-01

    This paper reviews the chest radiographs and high-resolution CT (HRCT) scans in patients with immunodeficiency disorders and define the role of HRCT. Thirty-three cases were retrospectively graded according to the consensus of two radiologists. Patients with HIV seropositivity and asthma were excluded. HRCT was performed in 12 cases with standard techniques. Diagnoses included common variable hypogammaglobulinemia (n = 19), X-linked agammaglobulinemia (n = 4), chronic mucocutaneous candidiasis (n = 4), and selective immunoglobulin g deficiencies (n = 2). Chest radiographs showed bronchiectasis in 11 of 33 cases with a predominant lower lobe distribution (82%). Nodules were present in six cases and mucus plugs in four cases. HRCT showed bronchiectasis in nine of 12 cases; in five of these nine cases, bronchiectasis was not apparent on chest radiographs. Other HRCT findings included segmental air trapping (four of 12), mucus plugs (three of 12), hazy consolidation (four of 12), nodules (five of 12), and bronchiolectasis (two of 12). Therapy was altered in seven of 12 cases in which HRCT was performed. Most pertinent to clinical management were the presence of a thymoma (n = 1) and severe focal of diffuse bronchiectasis

  19. CD4+ T lymphocytes injected into severe combined immunodeficient (SCID) mice lead to an inflammatory and lethal bowel disease

    DEFF Research Database (Denmark)

    Claesson, Mogens Helweg; Rudolphi, A; Kofoed, S

    1996-01-01

    Transfer of 2 x 10(5) congenic or semiallogenic purified TCR alphabeta+ CD4+ T cells to SCID mice leads to an infiltration of the recipient gut lamina propria and epithelium with a donor-derived CD4+ T cell subset which induces a lethal inflammatory bowel disease (IBD) in the recipients....... In contrast, IBD was not observed in SCID mice transplanted with unfractionated splenic cells. The earliest detectable pathological changes after CD4+ T cell transfer were proliferation and hypertrophy of the entire colonic epithelial layer, including increased mitotic activity, increased expression...... plasma cells were present in the lamina propria of both the small and large intestine. We conclude that low numbers of intraveneously transferred CD4+ T cells induce IBD in SCID mice. In the late stages of CD4+ T cell-induced IBD, the colonic lamina propria becomes infiltrated with macrophages...

  20. Mobilization Characteristics and Strategies to Improve Hematopoietic Progenitor Cell Mobilization and Collection in Patients with Chronic Granulomatous Disease and Severe Combined Immunodeficiency

    Science.gov (United States)

    Panch, Sandhya R.; Yau, Yu Ying; Kang, Elizabeth M.; De Ravin, Suk See; Malech, Harry L.; Leitman, Susan F.

    2014-01-01

    Background G-CSF mobilized autologous hematopoietic progenitor cells (HPC) may be collected by apheresis of patients with chronic granulomatous disease (CGD) and severe combined immunodeficiency (SCID) for use in gene therapy trials. CD34+ cell mobilization has not been well characterized in such patients. Study Design and Methods We retrospectively evaluated CD34+ cell mobilization and collection in 73 consecutive CGD and SCID patients and in 99 age, weight and G-CSF dose-matched healthy allogeneic controls. Results In subjects aged ≤20 years, day 5 pre-apheresis circulating CD34+ counts were significantly lower in CGD and SCID than in controls; mean peak CD34+ cells 58, 64, and 87/uL, respectively, p=0.01. The SCIDs had lower CD34+ collection efficiency than CGDs and controls; mean efficiency 40%, 63% and 57%, respectively, p=0.003. In subjects >20 years, the CGDs had significantly lower CD34+ cell mobilization than controls; mean peak CD34+ cells 41 and 113/uL, respectively, p<0.0001. In a multivariate analysis, lower sedimentation rate (ESR) at mobilization was significantly correlated with better CD34+ cell mobilization, p=0.007. In SCIDs, CD34 collection efficiency was positively correlated with higher red cell indices (MCV: R2=0.77; MCH: R2=0.94; MCHC: R2=0.7, p<0.007) but not hemoglobin. Conclusions CGD and SCID populations are characterized by significantly less robust CD34+ HPC mobilization than healthy controls. The presence of active inflammation/infection as suggested by an elevated ESR may negatively impact mobilization. Among SCIDs, markedly reduced CD34 collection efficiencies were related to iron deficiency, wherein decreased red cell size and density may impair apheresis cell separation mechanics. PMID:25143186

  1. Current treatment options with immunoglobulin G for the individualization of care in patients with primary immunodeficiency disease.

    Science.gov (United States)

    Jolles, S; Orange, J S; Gardulf, A; Stein, M R; Shapiro, R; Borte, M; Berger, M

    2015-02-01

    Primary antibody deficiencies require lifelong replacement therapy with immunoglobulin (Ig)G to reduce the incidence and severity of infections. Both subcutaneous and intravenous routes of administering IgG can be effective and well tolerated. Treatment regimens can be individualized to provide optimal medical and quality-of-life outcomes in infants, children, adults and elderly people. Frequency, dose, route of administration, home or infusion-centre administration, and the use of self- or health-professional-administered infusion can be tailored to suit individual patient needs and circumstances. Patient education is needed to understand the disease and the importance of continuous therapy. Both the subcutaneous and intravenous routes have advantages and disadvantages, which should be considered in selecting each patient's treatment regimen. The subcutaneous route is attractive to many patients because of a reduced incidence of systemic adverse events, flexibility in scheduling and its comparative ease of administration, at home or in a clinic. Self-infusion regimens, however, require independence and self-reliance, good compliance on the part of the patient/parent and the confidence of the physician and the nurse. Intravenous administration in a clinic setting may be more appropriate in patients with reduced manual dexterity, reluctance to self-administer or a lack of self-reliance, and intravenous administration at home for those with good venous access who prefer less frequent treatments. Both therapy approaches have been demonstrated to provide protection from infections and improve health-related quality of life. Data supporting current options in IgG replacement are presented, and considerations in choosing between the two routes of therapy are discussed. © 2014 British Society for Immunology.

  2. Psycho-immunology and HIV infection : biopsychosocial determinants of distress, immunological parameters, and disease progression in homosexual men infected with human immunodeficiency virus-1

    NARCIS (Netherlands)

    C.L. Mulder (Niels)

    1994-01-01

    textabstractSubjects who have tested positive for the presence of antibodies against Human Immunodeficiency Virus Type I (further abbreviated as HIV), have to live with a lifethreatening infection. At present, no definite medical cure is available that prevents progression of HIV infection.

  3. Transurethral prostatectomy in human immunodeficiency virus ...

    African Journals Online (AJOL)

    Human immunodeficiency virus (HIV) infection is increasing world-wide and highly active antiretroviral treatment ... Hospital with urethral catheter in situ and having failed medical therapy, he opted for transurethral ... endoscopic visualization of operation field, the .... percutaneous exposure: Centers for Disease Control and.

  4. Effect of partial and complete variable loop deletions of the human immunodeficiency virus type 1 envelope glycoprotein on the breadth of gp160-specific immune responses

    International Nuclear Information System (INIS)

    Gzyl, Jaroslaw; Bolesta, Elizabeth; Wierzbicki, Andrew; Kmieciak, Dariusz; Naito, Toshio; Honda, Mitsuo; Komuro, Katsutoshi; Kaneko, Yutaro; Kozbor, Danuta

    2004-01-01

    Induction of cross-reactive cellular and humoral responses to the HIV-1 envelope (env) glycoprotein was examined after DNA immunization of BALB/c mice with gp140 89.6 -derived constructs exhibiting partial or complete deletions of the V1, V2, and V3 domains. It was demonstrated that specific modification of the V3 loop (mV3) in combination with the V2-modified (mV2) or V1/V2-deleted (ΔV1/V2) region elicited increased levels of cross-reactive CD8 + T cell responses. Mice immunized with the mV2/mV3 or ΔV1/V2/mV3 gp140 89.6 plasmid DNA were greater than 50-fold more resistant to challenge with recombinant vaccinia virus (rVV) expressing heterologous env gene products than animals immunized with the wild-type (WT) counterpart. Sera from mV2/mV3- and ΔV1/V2/mV3-immunized mice exhibited the highest cross-neutralizing activity and displayed intermediate antibody avidity values which were further enhanced by challenge with rVV expressing the homologous gp160 glycoprotein. In contrast, complete deletion of the variable regions had little or no effect on the cross-reactive antibody responses. The results of these experiments indicate that the breadth of antibody responses to the HIV-1 env glycoprotein may not be increased by removal of the variable domains. Instead, partial deletions within these regions may redirect specific responses toward conserved epitopes and facilitate approaches for boosting cross-reactive cellular and antibody responses to the env glycoprotein

  5. Clinical and imaging considerations in primary immunodeficiency disorders: an update

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Eveline Y. [University of North Carolina at Chapel Hill, Department of Pediatrics, Chapel Hill, NC (United States); Ehrlich, Lauren [Yale School of Medicine, Department of Diagnostic Radiology, New Haven, CT (United States); Handly, Brian [University of North Carolina at Chapel Hill, Department of Radiology, Chapel Hill, NC (United States); Frush, Donald P. [Duke University Medical Center, Division of Pediatric Radiology, Durham, NC (United States); Buckley, Rebecca H. [Duke University Medical Center, Department of Pediatrics, Durham, NC (United States); Duke University School of Medicine, Department of Immunology, Durham, NC (United States)

    2016-11-15

    Primary immunodeficiencies are a group of genetically determined disorders with diverse presentations. The purpose of this review is to provide a practical and brief description of a select number of these diseases and to discuss the important role the radiologist can have in making an early diagnosis and in detecting and following disease complications. The role of diagnostic imaging and informed performance and interpretation are vital in the diagnosis, surveillance and management of all primary immunodeficiency disorders. (orig.)

  6. Screening for severe combined immunodeficiency in neonates

    OpenAIRE

    Kelly, Brian T; Tam, Jonathan S; Verbsky, James W; Routes, John M

    2013-01-01

    Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diag...

  7. genetic variability for tuber yield, quality, and virus disease complex

    African Journals Online (AJOL)

    Administrator

    have not been fully exploited due to limited breeding efforts and poor ... Flowering ability was low in some cultivars and a few did not flower at all. ... tion with other genes in different genetic backgrounds that can modify flesh ... sweetpotato production and utilisation, thus .... expressed as a percentage of diseased plants.

  8. Variability in the clinical expression of Parkinson's disease

    NARCIS (Netherlands)

    Wolters, E.C.

    2008-01-01

    Parkinsonism is a clinical syndrome characterized by bradykinesia, hypo-/akinesia, muscular rigidity, and resting tremor, mainly caused by Parkinson's disease (PD). Symptoms of PD are due to a progressive loss of nigral neurons causing striatal dopaminergic denervation. However, nigral degeneration

  9. Human immunodeficiency virus and menopause.

    Science.gov (United States)

    Kanapathipillai, Rupa; Hickey, Martha; Giles, Michelle

    2013-09-01

    This article aims to review currently available evidence for women infected with human immunodeficiency virus (HIV) and menopause and to propose clinical management algorithms. Key studies addressing HIV and menopause have been reviewed, specifically age of menopause onset in HIV-infected women, frequency of menopausal symptoms, comorbidities associated with HIV and aging (including cardiovascular disease and bone disease), treatment of menopausal symptoms, and prevention of comorbidities in HIV-infected women. Studies suggest an earlier onset of menopause in HIV-infected women, with increased frequency of symptoms. Cardiovascular disease risk may be increased in this population, with combination antiretroviral therapy (cART) and chronic inflammation associated with HIV, contributing to increased risk. Chronic inflammation and cART have been independently implicated in bone disease. No published data have assessed the safety and efficacy of hormone therapy in relation to symptoms of menopause, cardiovascular risk, and bone disease among HIV-infected women. Few studies on menopause have been conducted in HIV-infected women compared with HIV-uninfected women. Many questions regarding age of menopause onset, frequency of menopausal symptoms and associated complications such as bone disease and cardiovascular disease, and efficacy of treatment among HIV-infected women remain. The incidence and severity of some of these factors may be increased in the setting of HIV and cART.

  10. Differing Relationship of Psycho-Social Variables with Active Ulcerative Colitis or Crohn's Disease.

    Science.gov (United States)

    Sarid, Orly; Slonim-Nevo, Vered; Schwartz, Doron; Friger, Michael; Sergienko, Ruslan; Pereg, Avihu; Vardi, Hillel; Chernin, Elena; Singer, Terri; Greenberg, Dan; Odes, Shmuel

    2018-03-09

    How psycho-social variables affect the degree of disease activity in patients with ulcerative colitis (UC) or Crohn's disease (CD) is incompletely understood. Therefore, we measured and compared the impact of psycho-social variables on the active disease state in UC and CD. One hundred and twenty-two UC and 305 CD patients with active disease completed questionnaires detailing their psychological symptoms, threatening experiences, disease-coping strategies, satisfaction with life, quality of life, and demographics. UC and CD patients were aged (mean, SD) 38.6 ± 14.0 and 45.2 ± 15.1 years, respectively. The psychological symptom index (median, IQR) was greater in UC 1.24 (0.8) than CD 0.9 (0.8), p psycho-social variables on the active disease state differs between UC and CD, thus indicating a need for specifically tailored psychotherapies.

  11. Primary immunodeficiencies and B-cell lymphomas.

    Science.gov (United States)

    Martín-Mateos, María Anunciación; Piquer Gibert, Mónica

    In primary immunodeficiencies there is a failure in the anti-tumor defense. Common variable immunodeficiency (CVID) is one of the most common primary immunodeficiencies characterized by an alteration in the differentiation of B lymphocytes (BL). Epstein-Barr virus (EBV) is an ubiquitous virus that selectively infects the BL. In patients with immunodeficiency, uncontrolled proliferation of infected BL and the action of viral proteins promote the development of lymphomas. At the University Hospital Sant Joan de Deu, Barcelona, 28 patients were diagnosed with CVID from 2000 to 2013. This paper describes four patients who developed non-Hodgkin's lymphoma (NHL). The lymphoma was associated with EBV in two of the cases. Patients were<18 years old, diagnosed with lymphoma between 4 and 13 years old. Two patients were treated with rituximab as monotherapy and achieved complete remission. Two patients were treated with CHOP (cyclophosphamide, doxorubicin, vincristine and prednisolone) and radiotherapy or rituximab and achieved complete remission. Early detection of EBV infections and NHL in all patients diagnosed with CVID is recommended, regardless of age at diagnosis. Copyright © 2016 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  12. Ambulatory ECG and analysis of heart rate variability in Parkinson's disease.

    Science.gov (United States)

    Haapaniemi, T H; Pursiainen, V; Korpelainen, J T; Huikuri, H V; Sotaniemi, K A; Myllylä, V V

    2001-03-01

    Cardiovascular reflex tests have shown both sympathetic and parasympathetic failure in Parkinson's disease. These tests, however, describe the autonomic responses during a restricted time period and have great individual variability, providing a limited view of the autonomic cardiac control mechanisms. Thus, they do not reflect tonic autonomic regulation. The aim was to examine tonic autonomic cardiovascular regulation in untreated patients with Parkinson's disease. 24 Hour ambulatory ECG was recorded in 54 untreated patients with Parkinson's disease and 47 age matched healthy subjects. In addition to the traditional spectral (very low frequency, VLF; low frequency, LF; high frequency, HF) and non-spectral components of heart rate variability, instantaneous beat to beat variability (SD1) and long term continuous variability (SD2) derived from Poincaré plots, and the slope of the power law relation were analysed. All spectral components (plaw relation (pParkinson's disease than in the control subjects. The Unified Parkinson's disease rating scale total and motor scores had a negative correlation with VLF and LF power spectrum values and the power law relation slopes. Patients with mild hypokinesia had higher HF values than patients with more severe hypokinesia. Tremor and rigidity were not associated with the HR variability parameters. Parkinson's disease causes dysfunction of the diurnal autonomic cardiovascular regulation as demonstrated by the spectral measures of heart rate variability and the slope of the power law relation. This dysfunction seems to be more profound in patients with more severe Parkinson's disease.

  13. Importance and Impact of Preanalytical Variables on Alzheimer Disease Biomarker Concentrations in Cerebrospinal Fluid

    NARCIS (Netherlands)

    Le Bastard, Nathalie; De Deyn, Peter Paul; Engelborghs, Sebastiaan

    BACKGROUND: Analyses of cerebrospinal fluid (CSF) biomarkers (beta-amyloid protein, total tau protein, and hyperphosphorylated tau protein) are part of the diagnostic criteria of Alzheimer disease. Different preanalytical sample procedures contribute to variability of CSF biomarker concentrations,

  14. Human immunodeficiency virus-associated disruption of mucosal barriers and its role in HIV transmission and pathogenesis of HIV/AIDS disease

    Science.gov (United States)

    Tugizov, Sharof

    2016-01-01

    Abstract Oral, intestinal and genital mucosal epithelia have a barrier function to prevent paracellular penetration by viral, bacterial and other pathogens, including human immunodeficiency virus (HIV). HIV can overcome these barriers by disrupting the tight and adherens junctions of mucosal epithelia. HIV-associated disruption of epithelial junctions may also facilitate paracellular penetration and dissemination of other viral pathogens. This review focuses on possible molecular mechanisms of HIV-associated disruption of mucosal epithelial junctions and its role in HIV transmission and pathogenesis of HIV and acquired immune deficiency syndrome (AIDS). PMID:27583187

  15. Cutaneous manifestations of primary immunodeficiency

    Directory of Open Access Journals (Sweden)

    Safa Abdelhakim

    2017-01-01

    Full Text Available Primary immunodeficiency diseases (PIDs are a group of rare, chronic disorders with deficient or malfunctioning immune system. It commonly affects the hematopoietic system, with skin the second most affected organ. Skin involvement is observed in half of pediatric PID cases and often precedes the final diagnosis. Skin infections and eczemas are the two most common manifestations in PID.[1] Skin manifestations associated with PIDs can be of infectious and noninfectious causes. Common noninfectious causes are eczema, erythroderma, cutaneous granulomas, dysplasia, vasculitis, and telangiectasia. It is important to be aware of skin manifestations in pediatric patients as early detection of PID may aid in the management of serious immunologic conditions and prevent associated morbidity and mortality.

  16. Seasonal temperature variability and emergency hospital admissions for respiratory diseases: a population-based cohort study.

    Science.gov (United States)

    Sun, Shengzhi; Laden, Francine; Hart, Jaime E; Qiu, Hong; Wang, Yan; Wong, Chit Ming; Lee, Ruby Siu-Yin; Tian, Linwei

    2018-04-05

    Climate change increases global mean temperature and changes short-term (eg, diurnal) and long-term (eg, intraseasonal) temperature variability. Numerous studies have shown that mean temperature and short-term temperature variability are both associated with increased respiratory morbidity or mortality. However, data on the impact of long-term temperature variability are sparse. We aimed to assess the association of intraseasonal temperature variability with respiratory disease hospitalisations among elders. We ascertained the first occurrence of emergency hospital admissions for respiratory diseases in a prospective Chinese elderly cohort of 66 820 older people (≥65 years) with 10-13 years of follow-up. We used an ordinary kriging method based on 22 weather monitoring stations in Hong Kong to spatially interpolate daily ambient temperature for each participant's residential address. Seasonal temperature variability was defined as the SD of daily mean summer (June-August) or winter (December-February) temperatures. We applied Cox proportional hazards regression with time-varying exposure of seasonal temperature variability to respiratory admissions. During the follow-up time, we ascertained 12 689 cases of incident respiratory diseases, of which 6672 were pneumonia and 3075 were COPD. The HRs per 1°C increase in wintertime temperature variability were 1.20 (95% CI 1.08 to 1.32), 1.15 (1.01 to 1.31) and 1.41 (1.15 to 1.71) for total respiratory diseases, pneumonia and COPD, respectively. The associations were not statistically significant for summertime temperature variability. Wintertime temperature variability was associated with higher risk of incident respiratory diseases. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. Pharmacological inhibition of feline immunodeficiency virus (FIV).

    Science.gov (United States)

    Mohammadi, Hakimeh; Bienzle, Dorothee

    2012-05-01

    Feline immunodeficiency virus (FIV) is a member of the retroviridae family of viruses and causes an acquired immunodeficiency syndrome (AIDS) in domestic and non-domestic cats worldwide. Genome organization of FIV and clinical characteristics of the disease caused by the virus are similar to those of human immunodeficiency virus (HIV). Both viruses infect T lymphocytes, monocytes and macrophages, and their replication cycle in infected cells is analogous. Due to marked similarity in genomic organization, virus structure, virus replication and disease pathogenesis of FIV and HIV, infection of cats with FIV is a useful tool to study and develop novel drugs and vaccines for HIV. Anti-retroviral drugs studied extensively in HIV infection have targeted different steps of the virus replication cycle: (1) inhibition of virus entry into susceptible cells at the level of attachment to host cell surface receptors and co-receptors; (2) inhibition of fusion of the virus membrane with the cell membrane; (3) blockade of reverse transcription of viral genomic RNA; (4) interruption of nuclear translocation and viral DNA integration into host genomes; (5) prevention of viral transcript processing and nuclear export; and (6) inhibition of virion assembly and maturation. Despite much success of anti-retroviral therapy slowing disease progression in people, similar therapy has not been thoroughly investigated in cats. In this article we review current pharmacological approaches and novel targets for anti-lentiviral therapy, and critically assess potentially suitable applications against FIV infection in cats.

  18. Learning about Severe Combined Immunodeficiency (SCID)

    Science.gov (United States)

    ... immunodeficiency From The Journal of Allergy and Clinical Immunology Learning About Severe Combined Immunodeficiency (SCID) What is ... immunodeficiency From The Journal of Allergy and Clinical Immunology Get Email Updates Privacy Copyright Contact Accessibility Plug- ...

  19. An Examination of the Demographic and Environmental Variables Correlated with Lyme Disease Emergence in Virginia.

    Science.gov (United States)

    Seukep, Sara E; Kolivras, Korine N; Hong, Yili; Li, Jie; Prisley, Stephen P; Campbell, James B; Gaines, David N; Dymond, Randel L

    2015-12-01

    Lyme disease is the United States' most significant vector-borne illness. Virginia, on the southern edge of the disease's currently expanding range, has experienced an increase in Lyme disease both spatially and temporally, with steadily increasing rates over the past decade and disease spread from the northern to the southwestern part of the state. This study used a Geographic Information System and a spatial Poisson regression model to examine correlations between demographic and land cover variables, and human Lyme disease from 2006 to 2010 in Virginia. Analysis indicated that herbaceous land cover is positively correlated with Lyme disease incidence rates. Areas with greater interspersion between herbaceous and forested land were also positively correlated with incidence rates. In addition, income and age were positively correlated with incidence rates. Levels of development, interspersion of herbaceous and developed land, and population density were negatively correlated with incidence rates. Abundance of forest fragments less than 2 hectares in area was not significantly correlated. Our results support some findings of previous studies on ecological variables and Lyme disease in endemic areas, but other results have not been found in previous studies, highlighting the potential contribution of new variables as Lyme disease continues to emerge southward.

  20. Effects of Parkinson's Disease on Fundamental Frequency Variability in Running Speech.

    Science.gov (United States)

    Bowen, Leah K; Hands, Gabrielle L; Pradhan, Sujata; Stepp, Cara E

    2013-09-01

    In Parkinson's Disease (PD), qualitative speech changes such as decreased variation in pitch and loudness are common, but quantitative vocal changes are not well documented. The variability of fundamental frequency (F0) in 32 individuals (23 male) with PD both ON and OFF levodopa medication was compared with 32 age-matched healthy controls (23 male). Participants read a single paragraph and estimates of fundamental frequency (F0) variability were determined for the entire reading passage as well as for the first and last sentences of the passage separately. F0 variability was significantly increased in controls relative to both PD groups and PD patients showed significantly higher F0 variability while ON medication relative to OFF. No significant effect of group was seen in the change in F0 variability from the beginning to the end of the reading passage. Female speakers were found to have higher F0 variability than males. F0 variability was both significantly reduced in PD relative to controls and significantly increased in patients with PD during use of dopaminergic medications. F0 variability changes over the course of reading a paragraph may not be indicative of PD but rather dependent on non-disease factors such as the linguistic characteristics of the text.

  1. Effects of Parkinson’s Disease on Fundamental Frequency Variability in Running Speech

    Science.gov (United States)

    Bowen, Leah K.; Hands, Gabrielle L.; Pradhan, Sujata; Stepp, Cara E.

    2013-01-01

    In Parkinson’s Disease (PD), qualitative speech changes such as decreased variation in pitch and loudness are common, but quantitative vocal changes are not well documented. The variability of fundamental frequency (F0) in 32 individuals (23 male) with PD both ON and OFF levodopa medication was compared with 32 age-matched healthy controls (23 male). Participants read a single paragraph and estimates of fundamental frequency (F0) variability were determined for the entire reading passage as well as for the first and last sentences of the passage separately. F0 variability was significantly increased in controls relative to both PD groups and PD patients showed significantly higher F0 variability while ON medication relative to OFF. No significant effect of group was seen in the change in F0 variability from the beginning to the end of the reading passage. Female speakers were found to have higher F0 variability than males. F0 variability was both significantly reduced in PD relative to controls and significantly increased in patients with PD during use of dopaminergic medications. F0 variability changes over the course of reading a paragraph may not be indicative of PD but rather dependent on non-disease factors such as the linguistic characteristics of the text. PMID:25838754

  2. Is gait variability reliable in older adults and Parkinson's disease? Towards an optimal testing protocol.

    Science.gov (United States)

    Galna, Brook; Lord, Sue; Rochester, Lynn

    2013-04-01

    Despite the widespread use of gait variability in research and clinical studies, testing protocols designed to optimise its reliability have not been established. This study evaluates the impact of testing protocol and pathology on the reliability of gait variability. To (i) estimate the reliability of gait variability during continuous and intermittent walking protocols in older adults and people with Parkinson's disease (PD), (ii) determine optimal number of steps for acceptable levels of reliability of gait variability and (iii) provide sample size estimates for use in clinical trials. Gait variability was measured twice, one week apart, in 27 older adults and 25 PD participants. Participants walked at their preferred pace during: (i) a continuous 2 min walk and (ii) 3 intermittent walks over a 12 m walkway. Gait variability was calculated as the within-person standard deviation for step velocity, length and width, and step, stance and swing duration. Reliability of gait variability ranged from poor to excellent (intra class correlations .041-.860; relative limits of agreement 34-89%). Gait variability was more reliable during continuous walks. Control and PD participants demonstrated similar reliability. Increasing the number of steps improved reliability, with most improvement seen across the first 30 steps. In this study, we identified testing protocols that improve the reliability of measuring gait variability. We recommend using a continuous walking protocol and to collect no fewer than 30 steps. Early PD does not appear to impact negatively on the reliability of gait variability. Copyright © 2012 Elsevier B.V. All rights reserved.

  3. Feline Immunodeficiency Virus in South America

    Directory of Open Access Journals (Sweden)

    Bruno M. Teixeira

    2012-03-01

    Full Text Available The rapid emergence of AIDS in humans during the period between 1980 and 2000 has led to extensive efforts to understand more fully similar etiologic agents of chronic and progressive acquired immunodeficiency disease in several mammalian species. Lentiviruses that have gene sequence homology with human immunodeficiency virus (HIV have been found in different species (including sheep, goats, horses, cattle, cats, and several Old World monkey species. Lentiviruses, comprising a genus of the Retroviridae family, cause persistent infection that can lead to varying degrees of morbidity and mortality depending on the virus and the host species involved. Feline immunodeficiency virus (FIV causes an immune system disease in domestic cats (Felis catus involving depletion of the CD4+ population of T lymphocytes, increased susceptibility to opportunistic infections, and sometimes death. Viruses related to domestic cat FIV occur also in a variety of nondomestic felids. This is a brief overview of the current state of knowledge of this large and ancient group of viruses (FIVs in South America.

  4. Feline immunodeficiency virus in South America.

    Science.gov (United States)

    Teixeira, Bruno M; Hagiwara, Mitika K; Cruz, Juliano C M; Hosie, Margaret J

    2012-03-01

    The rapid emergence of AIDS in humans during the period between 1980 and 2000 has led to extensive efforts to understand more fully similar etiologic agents of chronic and progressive acquired immunodeficiency disease in several mammalian species. Lentiviruses that have gene sequence homology with human immunodeficiency virus (HIV) have been found in different species (including sheep, goats, horses, cattle, cats, and several Old World monkey species). Lentiviruses, comprising a genus of the Retroviridae family, cause persistent infection that can lead to varying degrees of morbidity and mortality depending on the virus and the host species involved. Feline immunodeficiency virus (FIV) causes an immune system disease in domestic cats (Felis catus) involving depletion of the CD4+ population of T lymphocytes, increased susceptibility to opportunistic infections, and sometimes death. Viruses related to domestic cat FIV occur also in a variety of nondomestic felids. This is a brief overview of the current state of knowledge of this large and ancient group of viruses (FIVs) in South America.

  5. Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

    Science.gov (United States)

    Collett, Johnny; Esser, Patrick; Khalil, Hanan; Busse, Monica; Quinn, Lori; DeBono, Katy; Rosser, Anne; Nemeth, Andrea H; Dawes, Helen

    2014-09-01

    Huntington's disease (HD) is a progressive inherited neurodegenerative disorder. Identifying sensitive methodologies to quantitatively measure early motor changes have been difficult to develop. This exploratory observational study investigated gait variability and symmetry in HD using phase plot analysis. We measured the walking of 22 controls and 35 HD gene carriers (7 premanifest (PreHD)), 16 early/mid (HD1) and 12 late stage (HD2) in Oxford and Cardiff, UK. The unified Huntington's disease rating scale-total motor scores (UHDRS-TMS) and disease burden scores (DBS) were used to quantify disease severity. Data was collected during a clinical walk test (8.8 or 10 m) using an inertial measurement unit attached to the trunk. The 6 middle strides were used to calculate gait variability determined by spatiotemporal parameters (co-efficient of variation (CoV)) and phase plot analysis. Phase plots considered the variability in consecutive wave forms from vertical movement and were quantified by SDA (spatiotemporal variability), SDB (temporal variability), ratio ∀ (ratio SDA:SDB) and Δangleβ (symmetry). Step time CoV was greater in manifest HD (p0.05). Phase plot analysis identified differences between manifest HD and controls for SDB, Ratio ∀ and Δangle (all pplot analysis may be a sensitive method of detecting gait changes in HD and can be performed quickly during clinical walking tests. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Serodiagnosis of Borrelia miyamotoi disease by measuring antibodies against GlpQ and variable major proteins

    DEFF Research Database (Denmark)

    Koetsveld, J.; Kolyasnikova, N. M.; Wagemakers, A.

    2018-01-01

    previously shown the differential expression of antigenic variable major proteins (Vmps) in B. miyamotoi, our aim was to study antibody responses against GlpQ and Vmps in PCR-proven BMD patients and controls. Methods: We assessed seroreactivity against GlpQ and four Vmps in a well-described, longitudinal......, and IgG between 21 and 50 days, after disease onset. Various combinations of GlpQ and Vmps increased sensitivity and/or specificity compared to single antigens. Notably, the GlpQ or variable large protein (Vlp)-15/16 combination yielded a sensitivity of 94.7% (95% CI: 75.4–99.7) 11–20 days after disease......Objectives: Borrelia miyamotoi disease (BMD) is an emerging tick-borne disease in the Northern hemisphere. Serodiagnosis by measuring antibodies against glycerophosphodiester-phosphodiesterase (GlpQ) has been performed experimentally but has not been extensively clinically validated. Because we had...

  7. Asociación del virus herpes humano 8 y la hiperplasia linfoide nodular difusa del intestino delgado en la inmunodeficiencia variable común Association between the human herpesvirus 8 and the diffuse nodular lymphoid hyperplasia of the small intestine in common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Elena Kokuina

    2009-12-01

    Full Text Available La inmunodeficiencia variable común (IDVC es la inmunodeficiencia primaria más frecuente en el terreno clínico y sus formas de presentación son muy variables. Se describe una paciente con IDVC de adulto con síndrome diarreico crónico, pérdida de peso y linfoadenopatías difusas. Sus características inmunológicas más notables fueron una profunda hipogammaglobulinemia de las 3 clases mayores de inmunoglobulinas y la disminución numérica de las células B (CD19+ y células NK (CD3-CD56+ en sangre periférica. La biopsia del intestino delgado obtenida por panendoscopia asistida por video, reveló hiperplasia linfoide multinodular con atrofia parcial de las vellosidades. La inmunohistoquímica mostró que los nódulos consistían en centros germinales aumentados de tamaño con una distribución de células B (CD20+ y células T (CD3+, similar a la del folículo normal. No se encontró expresión diferencial de cadenas ligeras κ y λ. El método de la reacción en cadena de la polimerasa en tiempo real (QRT-PCR detectó un número apreciable de copias del genoma del virus del herpes humano tipo 8 (VHH-8 (133 copias/µL de ADN en el ADN del nódulo intestinal biopsiado. La infección con el VHH-8 puede ser un factor importante en la patogenia de los trastornos linfoproliferativos en pacientes con IDVC.The common variable immunodeficiency (CVID is the more frequent primary immunodeficiency in clinical field and its presentation forms are very variable. We describe the case of a women presenting with adult CVID with chronic diarrhea syndrome, weight loss and diffuse lymphadenopathies, where the more marked immunologic features were a deep hypogammaglobulinemia of the three major kinds of immunoglobulins and numerical decrease of B cells (CD19+ and NK cells (CD3-CD56+ in peripheral blood. Biopsy of small intestine obtained by video-assisted panendoscope, showed the presence of a multinodular lymphoid hyperplasia with partial atrophy of

  8. Human immunodeficiency virus endocrinopathy

    Directory of Open Access Journals (Sweden)

    Uma Sinha

    2011-01-01

    Full Text Available Human immunodeficiency virus (HIV endocrinopathy encompasses a broad spectrum of disorders. Almost all the endocrine organs are virtually affected by HIV infection. HIV can directly alter glandular function. More commonly secondary endocrine dysfunction occurs due to opportunistic infections and neoplasms in immunocompromised state. The complex interaction between HIV infection and endocrine system may be manifested as subtle biochemical and hormonal perturbation to overt glandular failure. Antiretroviral therapy as well as other essential medications often result in adverse endocrinal consequences. Apart from adrenal insufficiency, hypogonadism, diabetes and bone loss, AIDS wasting syndrome and HIV lipodystrophy need special reference. Endocrinal evaluation should proceed as in other patients with suspected endocrine dysfunction. Available treatment options have been shown to improve quality of life and long-term mortality in AIDS patients.

  9. Linking global climate and temperature variability to widespread amphibian declines putatively caused by disease.

    Science.gov (United States)

    Rohr, Jason R; Raffel, Thomas R

    2010-05-04

    The role of global climate change in the decline of biodiversity and the emergence of infectious diseases remains controversial, and the effect of climatic variability, in particular, has largely been ignored. For instance, it was recently revealed that the proposed link between climate change and widespread amphibian declines, putatively caused by the chytrid fungus Batrachochytrium dendrobatidis (Bd), was tenuous because it was based on a temporally confounded correlation. Here we provide temporally unconfounded evidence that global El Niño climatic events drive widespread amphibian losses in genus Atelopus via increased regional temperature variability, which can reduce amphibian defenses against pathogens. Of 26 climate variables tested, only factors associated with temperature variability could account for the spatiotemporal patterns of declines thought to be associated with Bd. Climatic predictors of declines became significant only after controlling for a pattern consistent with epidemic spread (by temporally detrending the data). This presumed spread accounted for 59% of the temporal variation in amphibian losses, whereas El Niño accounted for 59% of the remaining variation. Hence, we could account for 83% of the variation in declines with these two variables alone. Given that global climate change seems to increase temperature variability, extreme climatic events, and the strength of Central Pacific El Niño episodes, climate change might exacerbate worldwide enigmatic declines of amphibians, presumably by increasing susceptibility to disease. These results suggest that changes to temperature variability associated with climate change might be as significant to biodiversity losses and disease emergence as changes to mean temperature.

  10. Low Residual CBF Variability in Alzheimer's Disease after Correction for CO(2) Effect

    DEFF Research Database (Denmark)

    Rodell, Anders Bertil; Aanerud, Joel; Braendgaard, Hans

    2012-01-01

    We tested the claim that inter-individual CBF variability in Alzheimer's disease (AD) is substantially reduced after correction for arterial carbon dioxide tension (PaCO(2)). Specifically, we tested whether the variability of CBF in brain of patients with AD differed significantly from brain of age...... for the differences of CO(2) tension, the patients with AD lost the inter-individual CBF variability that continued to characterize the HC subjects. The difference (¿K(1)) between the blood-brain clearances (K(1)) of water (the current measure of CBF) and oxygen (the current measure of oxygen clearance) was reduced......-matched healthy control subjects (HC). To eliminate the CO(2)-induced variability, we developed a novel and generally applicable approach to the correction of CBF for changes of PaCO(2) and applied the method to positron emission tomographic (PET) measures of CBF in AD and HC groups of subjects. After correction...

  11. Anemia and survival in human immunodeficiency virus

    DEFF Research Database (Denmark)

    Lundgren, Jens Dilling; Mocroft, Amanda

    2003-01-01

    The prospective, multicenter cohort study EuroSIDA has previously reported on predictors and outcomes of anemia in patients infected with human immunodeficiency virus. In a Cox proportional-hazards model with serial measures of CD4+ cell count, plasma viral load, and degrees of anemia fitted...... as time-dependent variables, the relative hazard of death increased markedly for patients with anemia versus no anemia. A clinical scoring system was developed and validated for patients receiving highly active antiretroviral therapy using the most recent laboratory measures. Mild and severe anemia were...... independently (Panemia. The mechanisms underlying why hemoglobin is such a strong prognostic...

  12. Variability of pulmonary function test in healthy children, asthmatic and with chronicle lung disease

    International Nuclear Information System (INIS)

    Rodriguez Martinez, Carlos; Sossa, Monica Patricia; Cortez, Eliana; Mallol, Javier

    2004-01-01

    Comparison of sequential pulmonary function tests in the same individual can be used to assess progression of a disease, response to therapy, or response to bronchial provocation. These types of comparisons require an understanding of the factors influencing the variability normally in repeat measurements of lung function. To avoid misleading conclusions about changes in serial measurements, the degree of variability of each test must be considered in their interpretation. The purpose of this study was to examine the degree of intrasubject variability for pulmonary function testing in healthy, asthmatic and children with chronic lung disease (CLD). The tests examined were spirometry, and body plethysmography determination of lung volumes. We studied 21 healthy children, 19 asthmatic patients and 19 children with CLD, testing were done on nine occasions, three times within a day, on three different days, over a period of two months. Short-term variability was defined as the coefficient of variation for the s ix measurements made on days 1 and 2, and the long-term variability as the CV of the nine measurements made on days 1, 2 and 3. Based on the CV measures, children with CLD had significantly more variability in all spirometric values compared with healthy and asthmatic children, except for PEF (P< 0.05) children with CLD had a significantly lower CV for TGV and FRC compared with the other two groups (p < 0.05). Asthmatic children had a significantly higher CV for RV and RV/TLC compared with healthy and children with CLD (p < 0.05). We propose a method to consider changes in pulmonary function tests as significant. The degree of variability and an estimate of the percent change for significance of spirometric and plethysmographic tests must be considered in the interpretation of data to avoid misleading conclusions. The variability of spirometric pulmonary function data in healthy subjects was smaller than that for patients with pulmonary disease, so larger

  13. Prevalence and clinical and laboratory characteristics of kidney disease in anti-retroviral-naive human immunodeficiency virus-infected patients in South-South Nigeria

    Directory of Open Access Journals (Sweden)

    U H Okafor

    2016-01-01

    Full Text Available Since the emergence of acquired immune deficiency syndrome (AIDS about three decades ago, several renal disorders have been reported as common complications of human immunodeficiency virus (HIV infection. These renal disorders result from diverse etiologies. The aim of this cross-sectional study was to determine the prevalence and clinical and laboratory characteristics of anti-retroviral-naοve HIV-infected patients with impaired kidney disorder in South-South Nigeria. This study was conducted on patients presenting at the University of Benin Teaching Hospital, Benin City in South-South Nigeria for six months. The patients′ demographic data and clinical, hematological and biochemical parameters were assessed. Their glomerular filtration rate (GFR was calculated and the protein excretion was assessed from the protein- creatinine ratio. Data were analyzed using statistical software program SPSS version 15.0. Threehundred and eighty-three patients with a mean age of 35.39 ± 8.78 years and a male: female ratio of 1:1 were studied; 53.3% had evidence of kidney disorder. The main clinical features in patients with kidney disorder were evidence of fluid retention, urinary symptoms, pallor and encephalopathy. The mean systolic and diastolic blood pressures were 115.33 ± 17.17 and 72.33 ± 14.31 mm Hg, respectively. The mean estimated GFR was 52.5 mL/min/1.73 m 2 . Patients with kidney disorder had higher proteinuria (P = 0.001, lower mean CD4 cell count and packed cell volume (P = 0.019 and 0.001, respectively. Kidney disorder is a common complication in HIV-infected patients, and they have clinical and laboratory anomalies. Screening of HIV/AIDS patients at the time of diagnosis will facilitate early diagnosis of kidney disorders in them.

  14. Feline Immunodeficiency Virus (FIV Neutralization: A Review

    Directory of Open Access Journals (Sweden)

    Margaret J. Hosie

    2011-10-01

    Full Text Available One of the major obstacles that must be overcome in the design of effective lentiviral vaccines is the ability of lentiviruses to evolve in order to escape from neutralizing antibodies. The primary target for neutralizing antibodies is the highly variable viral envelope glycoprotein (Env, a glycoprotein that is essential for viral entry and comprises both variable and conserved regions. As a result of the complex trimeric nature of Env, there is steric hindrance of conserved epitopes required for receptor binding so that these are not accessible to antibodies. Instead, the humoral response is targeted towards decoy immunodominant epitopes on variable domains such as the third hypervariable loop (V3 of Env. For feline immunodeficiency virus (FIV, as well as the related human immunodeficiency virus-1 (HIV-1, little is known about the factors that lead to the development of broadly neutralizing antibodies. In cats infected with FIV and patients infected with HIV-1, only rarely are plasma samples found that contain antibodies capable of neutralizing isolates from other clades. In this review we examine the neutralizing response to FIV, comparing and contrasting with the response to HIV. We ask whether broadly neutralizing antibodies are induced by FIV infection and discuss the comparative value of studies of neutralizing antibodies in FIV infection for the development of more effective vaccine strategies against lentiviral infections in general, including HIV-1.

  15. Variability in Cadence During Forced Cycling Predicts Motor Improvement in Individuals With Parkinson’s Disease

    Science.gov (United States)

    Ridgel, Angela L.; Abdar, Hassan Mohammadi; Alberts, Jay L.; Discenzo, Fred M.; Loparo, Kenneth A.

    2014-01-01

    Variability in severity and progression of Parkinson’s disease symptoms makes it challenging to design therapy interventions that provide maximal benefit. Previous studies showed that forced cycling, at greater pedaling rates, results in greater improvements in motor function than voluntary cycling. The precise mechanism for differences in function following exercise is unknown. We examined the complexity of biomechanical and physiological features of forced and voluntary cycling and correlated these features to improvements in motor function as measured by the Unified Parkinson’s Disease Rating Scale (UPDRS). Heart rate, cadence, and power were analyzed using entropy signal processing techniques. Pattern variability in heart rate and power were greater in the voluntary group when compared to forced group. In contrast, variability in cadence was higher during forced cycling. UPDRS Motor III scores predicted from the pattern variability data were highly correlated to measured scores in the forced group. This study shows how time series analysis methods of biomechanical and physiological parameters of exercise can be used to predict improvements in motor function. This knowledge will be important in the development of optimal exercise-based rehabilitation programs for Parkinson’s disease. PMID:23144045

  16. Virus-host interaction in feline immunodeficiency virus (FIV) infection.

    Science.gov (United States)

    Taniwaki, Sueli Akemi; Figueiredo, Andreza Soriano; Araujo, João Pessoa

    2013-12-01

    Feline immunodeficiency virus (FIV) infection has been the focus of several studies because this virus exhibits genetic and pathogenic characteristics that are similar to those of the human immunodeficiency virus (HIV). FIV causes acquired immunodeficiency syndrome (AIDS) in cats, nevertheless, a large fraction of infected cats remain asymptomatic throughout life despite of persistent chronic infection. This slow disease progression may be due to the presence of factors that are involved in the natural resistance to infection and the immune response that is mounted by the animals, as well as due to the adaptation of the virus to the host. Therefore, the study of virus-host interaction is essential to the understanding of the different patterns of disease course and the virus persistence in the host, and to help with the development of effective vaccines and perhaps the cure of FIV and HIV infections. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Avian Influenza: Potential Impact on Sub-Saharan Military Populations with High Rates of Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome

    National Research Council Canada - National Science Library

    Feldman, Robert L; Nickell, Kent

    2007-01-01

    ...)/acquired immunodeficiency syndrome. With the arrival of avian influenza in Africa, the potential exists that some of those soldiers might also become infected with H5N1, the virus responsible for the disease...

  18. Skin signs of primary immunodeficiencies: how to find the genes to check.

    Science.gov (United States)

    Ettinger, M; Schreml, J; Wirsching, K; Berneburg, M; Schreml, S

    2018-02-01

    Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easily accessible organ, the skin can be crucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality. We provide a table that enables the reader to find the possible diseases and corresponding gene defects based on the skin manifestations of the suspected PIDs. To our knowledge, this is the first review that allows the reader to find relevant PIDs and the respective gene defects through solitary or combined skin signs. © 2017 British Association of Dermatologists.

  19. Intra-Individual Variability of Physical Activity in Older Adults With and Without Mild Alzheimer's Disease.

    Science.gov (United States)

    Watts, Amber; Walters, Ryan W; Hoffman, Lesa; Templin, Jonathan

    2016-01-01

    Physical activity shows promise for protection against cognitive decline in older adults with and without Alzheimer's disease (AD). To better understand barriers to adoption of physical activity in this population, a clear understanding of daily and weekly activity patterns is needed. Most accelerometry studies report average physical activity over an entire wear period without considering the potential importance of the variability of physical activity. This study evaluated individual differences in the amount and intra-individual variability of physical activity and determined whether these differences could be predicted by AD status, day of wear, age, gender, education, and cardiorespiratory capacity. Physical activity was measured via accelerometry (Actigraph GT3X+) over one week in 86 older adults with and without AD (n = 33 and n = 53, respectively). Mixed-effects location-scale models were estimated to evaluate and predict individual differences in the amount and intra-individual variability of physical activity. Results indicated that compared to controls, participants with AD averaged 21% less activity, but averaged non-significantly greater intra-individual variability. Women and men averaged similar amounts of physical activity, but women were significantly less variable. The amount of physical activity differed significantly across days of wear. Increased cardiorespiratory capacity was associated with greater average amounts of physical activity. Investigation of individual differences in the amount and intra-individual variability of physical activity provided insight into differences by AD status, days of monitor wear, gender, and cardiovascular capacity. All individuals regardless of AD status were equally consistent in their physical activity, which may have been due to a highly sedentary sample and/or the early disease stage of those participants with AD. These results highlight the value of considering individual differences in both the amount and

  20. Prognostic value of biochemical variables for survival after surgery for metastatic bone disease of the extremities.

    Science.gov (United States)

    Sørensen, Michala Skovlund; Hovgaard, Thea Bechman; Hindsø, Klaus; Petersen, Michael Mørk

    2017-03-01

    Prediction of survival in patients having surgery for metastatic bone disease in the extremities (MBDex) has been of interest in more than two decades. Hitherto no consensus on the value of biochemical variables has been achieved. Our purpose was (1) to investigate if standard biochemical variables have independent prognostic value for survival after surgery for MBDex and (2) to identify optimal prognostic cut off values for survival of biochemical variables. In a consecutive cohort of 270 patients having surgery for MBDex, we measured preoperative biochemical variables: hemoglobin, alkaline phosphatase, C-reactive protein and absolute, neutrophil and lymphocyte count. ROC curve analyses were performed to identify optimal cut off levels. Independent prognostic factors for variables were addressed with multiple Cox regression analyses. Optimal cut off levels were identified as: hemoglobin 7.45 mmol/L, absolute lymphocyte count 8.5 × 10 9 /L, neutrophil 5.68 × 10 9 /L, lymphocyte 1.37 × 10 9 /L, C-reactive protein 22.5 mg/L, and alkaline phosphatase 129 U/L. Regression analyses found alkaline phosphatase (HR 2.49) and neutrophil count (HR 2.49) to be independent prognostic factors. We found neutrophil count and alkaline phosphatase to be independent prognostic variables in predicting survival in patients after surgery for MBDex. © 2016 Wiley Periodicals, Inc.

  1. Variability of Late-Night Salivary Cortisol in Cushing Disease: A Prospective Study.

    Science.gov (United States)

    Sandouk, Zahrae; Johnston, Philip; Bunch, Dustin; Wang, Sihe; Bena, James; Hamrahian, Amir; Kennedy, Laurence

    2018-03-01

    The frequency of variable hormonogenesis in patients with Cushing disease (CD) but without cyclical symptoms is unclear. To assess the frequency of variable hormonogenesis in patients presenting with CD. Over a 6-month period, patients with confirmed or suspected CD provided late-night salivary samples for up to 42 consecutive nights. Of 19 patients confirmed to have CD, 16 provided at least 7 consecutive salivary samples, and 13 provided at least 21; these 16 patients are the subjects of this report. Twelve patients had at least three peak and two trough levels of late-night salivary cortisol (LNSC) but in only two patients were strict criteria for cyclical hormonogenesis fulfilled; variation was assessed as random in the others. Eight patients had de novo CD, and eight had recurrent/persistent disease. All patients with recurrent/persistent CD had two or more normal results, and in four of these patients, >50% of LNSC were normal. In six patients with de novo disease with at least one normal LNSC level, the maximum levels ranged from 1.55 to 15.5 times the upper limit of normal. Extreme fluctuations of cortisol production, measured by sequential LNSC, are common in CD. In newly diagnosed disease, this may only occasionally impair diagnostic ability, whereas in most patients with recurrent/persistent disease after pituitary surgery, LNSC is frequently within the reference range, with potential to cause diagnostic problems.

  2. Some considerations concerning the challenge of incorporating social variables into epidemiological models of infectious disease transmission.

    Science.gov (United States)

    Barnett, Tony; Fournié, Guillaume; Gupta, Sunetra; Seeley, Janet

    2015-01-01

    Incorporation of 'social' variables into epidemiological models remains a challenge. Too much detail and models cease to be useful; too little and the very notion of infection - a highly social process in human populations - may be considered with little reference to the social. The French sociologist Émile Durkheim proposed that the scientific study of society required identification and study of 'social currents'. Such 'currents' are what we might today describe as 'emergent properties', specifiable variables appertaining to individuals and groups, which represent the perspectives of social actors as they experience the environment in which they live their lives. Here we review the ways in which one particular emergent property, hope, relevant to a range of epidemiological situations, might be used in epidemiological modelling of infectious diseases in human populations. We also indicate how such an approach might be extended to include a range of other potential emergent properties to represent complex social and economic processes bearing on infectious disease transmission.

  3. Prevention of infection in children and adolescents with primary immunodeficiency disorders.

    Science.gov (United States)

    Papadopoulou-Alataki, Efimia; Hassan, Amel; Davies, E Graham

    2012-12-01

    Primary Immunodeficiency diseases (PIDs) are a heterogenous group of inherited disorders that may involve one or multiple components of the immune system. PIDs are uncommon, chronic and severe disorders, in which patients cannot mount a sufficiently protective immune response, leading to an increased susceptibility to infections. This review addresses the current practices for the prevention of infection in children and adolescents with PIDs, particular covering immunisations and antimicrobial prophylaxis. Over recent years, there have been major advances in molecular and cellular understanding in the field of PIDs. Many different disorders are recognised with variable spectra of infection susceptibility depending on the particular aspects of the immune response that are affected. Immunoglobulin prophylaxis is the mainstay of treatment for PIDs and provides passive protection. Prophylactic antimicrobials are efficacious in children and adolescents with predominant defects in primary T cell immunodeficiency diseases and phagocytic disorders, and also with predominant defects in antibody production. Prophylactic antibiotics are suggested for patients with antibody deficiency diseases if recurrent infections exceed three per year, if severe infections occur despite adequate immunoglobulin replacement and in hypogammaglobulinaemic patients who have bronchiectasis. Certain immunisations are effective in antibody deficiencies, T cell deficiencies, complement deficiencies and phagocytic disorders. There are remarkably few published data relating to clinical management aimed at preventing infectious complications in children and adolescents with PIDs. The cornerstones of the prevention of infection in most PID patients are: antimicrobial prophylaxis, appropriate vaccination, immunoglobulin replacement, for the more severe cases, and regular ongoing follow-up.

  4. Ambulatory ECG and analysis of heart rate variability in Parkinson's disease

    OpenAIRE

    Haapaniemi, T; Pursiainen, V; Korpelainen, J; Huikuri, H; Sotaniemi, K; Myllyla, V

    2001-01-01

    OBJECTIVES—Cardiovascular reflex tests have shown both sympathetic and parasympathetic failure in Parkinson's disease. These tests, however, describe the autonomic responses during a restricted time period and have great individual variability, providing a limited view of the autonomic cardiac control mechanisms. Thus, they do not reflect tonic autonomic regulation. The aim was to examine tonic autonomic cardiovascular regulation in untreated patients with Parkinson's dis...

  5. Late Onset Combined Immunodeficiency Presenting with Recurrent Pneumocystis jiroveci Pneumonia

    Directory of Open Access Journals (Sweden)

    Ilias Papakonstantinou

    2014-01-01

    Full Text Available Late onset combined immunodeficiency (LOCID is a recently described variant of common variable immunodeficiency (CVID, involving adult patients presenting with opportunistic infections and/or low CD4+ lymphocyte counts. A 36-year-old male with unremarkable past medical history presented with fever, respiratory failure, and lymphocytopenia. He was found to have Pneumocystis jiroveci pneumonia (PJP, subsequently complicated by recurrent hospital-acquired Pseudomonas aeruginosa pneumonia and immune reconstitution phenomena, attributed to restoration of immunoglobulin levels. Clinicians should be aware of LOCID, which could be confused with HIV infection/AIDS or idiopathic CD4 lymphocytopenia. In the English bibliography there is only one case report, where PJP was the initial presentation of CVID (that case would probably be classified as LOCID. Phenomena of immune reconstitution are described in various settings, including primary immunodeficiency, manifesting as temporary clinical and radiologic deterioration and leading to misperceptions of therapeutic failure and/or presence of alternative/additional diagnoses.

  6. Reliability, reference values and predictor variables of the ulnar sensory nerve in disease free adults.

    Science.gov (United States)

    Ruediger, T M; Allison, S C; Moore, J M; Wainner, R S

    2014-09-01

    The purposes of this descriptive and exploratory study were to examine electrophysiological measures of ulnar sensory nerve function in disease free adults to determine reliability, determine reference values computed with appropriate statistical methods, and examine predictive ability of anthropometric variables. Antidromic sensory nerve conduction studies of the ulnar nerve using surface electrodes were performed on 100 volunteers. Reference values were computed from optimally transformed data. Reliability was computed from 30 subjects. Multiple linear regression models were constructed from four predictor variables. Reliability was greater than 0.85 for all paired measures. Responses were elicited in all subjects; reference values for sensory nerve action potential (SNAP) amplitude from above elbow stimulation are 3.3 μV and decrement across-elbow less than 46%. No single predictor variable accounted for more than 15% of the variance in the response. Electrophysiologic measures of the ulnar sensory nerve are reliable. Absent SNAP responses are inconsistent with disease free individuals. Reference values recommended in this report are based on appropriate transformations of non-normally distributed data. No strong statistical model of prediction could be derived from the limited set of predictor variables. Reliability analyses combined with relatively low level of measurement error suggest that ulnar sensory reference values may be used with confidence. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Health care seeking among men with genital ulcer disease in South Africa: correlates and relationship to human immunodeficiency virus-1 and herpes simplex virus type 2 detection and shedding.

    Science.gov (United States)

    Leichliter, Jami S; Lewis, David A; Sternberg, Maya; Habel, Melissa A; Paz-Bailey, Gabriela

    2011-09-01

    Episodic acyclovir therapy has been added to genital ulcer disease (GUD) syndromic management guidelines in several sub-Saharan African countries with human immunodeficiency virus (HIV) epidemics. We examined the correlates of health care seeking in men with GUD and its relationship to HIV-1 and herpes simplex virus type 2 outcomes. Men with GUD (n = 615) were recruited from primary health care clinics in Gauteng province, South Africa for a randomized controlled trial of episodic acyclovir therapy. We used baseline survey and sexually transmitted infection/HIV-testing data to examine delay in health care seeking (defined as time from ulcer recognition to baseline study visit). Median delay in health care seeking for GUD was 5 days, and one-quarter of men had previously sought care for the current ulcer. Previous care seekers were older, had more episodes of ulceration in the past year, and were more likely to test seropositive for HIV-1 and HSV-2. Delay in health care seeking was significantly associated with age, education level, and sex during the ulceration episode. Delays in care seeking were related to poorer HIV-1 outcomes; these findings were valid after controlling for advanced HIV. Interventions to help shorten the duration between ulcer recognition and health care seeking for men with GUD are needed.

  8. Preliminary guidelines for the evaluation and management of dyslipidemia in adults infected with human immunodeficiency virus and receiving antiretroviral therapy: Recommendations of the Adult AIDS Clinical Trial Group Cardiovascular Disease Focus Group

    NARCIS (Netherlands)

    Dubé, M. P.; Sprecher, D.; Henry, W. K.; Aberg, J. A.; Torriani, F. J.; Hodis, H. N.; Schouten, J. [=Judith; Levin, J.; Myers, G.; Zackin, R.; Nevin, T.; Currier, J. S.

    2000-01-01

    Dyslipidemia is a prevalent condition that affects patients infected with human immunodeficiency virus (HIV) who are receiving antiretroviral therapy, These preliminary recommendations summarize the current understanding in this area and propose guidelines for management. Existing guidelines for the

  9. Mathematical Analysis of a Model for Human Immunodeficiency ...

    African Journals Online (AJOL)

    ADOWIE PERE

    ABSTRACT: The objective of this paper is to present a mathematical model formulated to investigate the dynamics of human immunodeficiency virus (HIV). The disease free equilibrium of the model was found to be locally and globally asymptotically stable. The endemic equilibrium point exists and it was discovered that the ...

  10. Sexual orientation and risk factors for Human Immunodeficiency ...

    African Journals Online (AJOL)

    The issue of homosexuality attracts global debate, given that this constitutes risk factor for sexually transmitted diseases. An exploration of socio-cultural, religious and sexual activities of lesbian, gay, bisexual, transgender and intersex sector would inform future Human Immunodeficiency Virus programming.

  11. Awareness and practice of Human Immunodeficiency Virus And ...

    African Journals Online (AJOL)

    Background: Human Immunodeficiency Virus(HIV) and Hepatitis B Virus(HBV) infections are global viral diseases with various seroprevalence rates in different parts of the world. They share similar modes of transmission and are very important in Transfusion Medicine. Aim/Objective: To determine the level of awareness ...

  12. Reproduction and fertility in human immunodeficiency virus type-1 infection

    NARCIS (Netherlands)

    van Leeuwen, E.; Prins, J. M.; Jurriaans, S.; Boer, K.; Reiss, P.; Repping, S.; van der Veen, F.

    2007-01-01

    Human immunodeficiency virus type-1 (HIV-1) affects mostly men and women in their reproductive years. For those who have access to highly active antiretroviral therapy (HAART), the course of HIV-1 infection has shifted from a lethal to a chronic disease. As a result of this, many patients with HIV-1

  13. Variability in results from negative binomial models for Lyme disease measured at different spatial scales.

    Science.gov (United States)

    Tran, Phoebe; Waller, Lance

    2015-01-01

    Lyme disease has been the subject of many studies due to increasing incidence rates year after year and the severe complications that can arise in later stages of the disease. Negative binomial models have been used to model Lyme disease in the past with some success. However, there has been little focus on the reliability and consistency of these models when they are used to study Lyme disease at multiple spatial scales. This study seeks to explore how sensitive/consistent negative binomial models are when they are used to study Lyme disease at different spatial scales (at the regional and sub-regional levels). The study area includes the thirteen states in the Northeastern United States with the highest Lyme disease incidence during the 2002-2006 period. Lyme disease incidence at county level for the period of 2002-2006 was linked with several previously identified key landscape and climatic variables in a negative binomial regression model for the Northeastern region and two smaller sub-regions (the New England sub-region and the Mid-Atlantic sub-region). This study found that negative binomial models, indeed, were sensitive/inconsistent when used at different spatial scales. We discuss various plausible explanations for such behavior of negative binomial models. Further investigation of the inconsistency and sensitivity of negative binomial models when used at different spatial scales is important for not only future Lyme disease studies and Lyme disease risk assessment/management but any study that requires use of this model type in a spatial context. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Heart Rate Variability in Cavalier King Charles Spaniels with Different Degree of Myxomatous Mitral Valve Disease

    DEFF Research Database (Denmark)

    Rasmussen, Caroline Elisabeth; Falk, Bo Torkel; Zois, Nora Elisabeth

    2010-01-01

    Sciences, University of Copenhagen, Frederiksberg, Denmark, 2Department of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden; and 3Novo Nordic A/S, Maaloev, Denmark. Introduction: Modulation of heart rate by the autonomic nervous system can indirectly be measured by heart rate...... variability (HRV). Reduced HRV is seen in dogs with heart failure secondary to myxomatous mitral valve disease (MMVD). However, HRV is suggested to increase with disease progression in dogs with early stages of MMVD. Comparable results are found in people with primary mitral valve prolapse, a disease...... resembling canine MMVD. Aim: To associate progression of MMVD in dogs with time and frequency domain HRV, analysed from 24-hour electrocardiography. Materials and Methods: Eighty-one Cavalier King Charles Spaniels (CKCS) were examined by echocardiography and 24-hour electrocardiography. CKCS were divided...

  15. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

    Science.gov (United States)

    Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S; Kraemer, Nadine; Kaindl, Angela M

    2016-04-29

    Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

  16. Human immunodeficiency virus infection and the liver.

    Science.gov (United States)

    Crane, Megan; Iser, David; Lewin, Sharon R

    2012-03-27

    Liver disease in human immunodeficiency virus (HIV)-infected individuals encompasses the spectrum from abnormal liver function tests, liver decompensation, with and without evidence of cirrhosis on biopsy, to non-alcoholic liver disease and its more severe form, non-alcoholic steatohepatitis and hepatocellular cancer. HIV can infect multiple cells in the liver, leading to enhanced intrahepatic apoptosis, activation and fibrosis. HIV can also alter gastro-intestinal tract permeability, leading to increased levels of circulating lipopolysaccharide that may have an impact on liver function. This review focuses on recent changes in the epidemiology, pathogenesis and clinical presentation of liver disease in HIV-infected patients, in the absence of co-infection with hepatitis B virus or hepatitis C virus, with a specific focus on issues relevant to low and middle income countries.

  17. Autoimmunity and dysmetabolism of human acquired immunodeficiency syndrome.

    Science.gov (United States)

    Huang, Yan-Mei; Hong, Xue-Zhi; Xu, Jia-Hua; Luo, Jiang-Xi; Mo, Han-You; Zhao, Hai-Lu

    2016-06-01

    Acquired immunodeficiency syndrome (AIDS) remains ill-defined by lists of symptoms, infections, tumors, and disorders in metabolism and immunity. Low CD4 cell count, severe loss of body weight, pneumocystis pneumonia, and Kaposi's sarcoma are the major disease indicators. Lines of evidence indicate that patients living with AIDS have both immunodeficiency and autoimmunity. Immunodeficiency is attributed to deficits in the skin- and mucosa-defined innate immunity, CD4 T cells and regulatory T cells, presumably relating human immunodeficiency virus (HIV) infection. The autoimmunity in AIDS is evident by: (1) overproduction of autoantibodies, (2) impaired response of CD4 cells and CD8 cells, (3) failure of clinical trials of HIV vaccines, and (4) therapeutic benefits of immunosuppression following solid organ transplantation and bone marrow transplantation in patients at risk of AIDS. Autoantibodies are generated in response to antigens such as debris and molecules de novo released from dead cells, infectious agents, and catabolic events. Disturbances in metabolic homeostasis occur at the interface of immunodeficiency and autoimmunity in the development of AIDS. Optimal treatments favor therapeutics targeting on the regulation of metabolism to restore immune homeostasis.

  18. Variably Protease-Sensitive Prionopathy: A New Sporadic Disease of the Prion Protein

    Science.gov (United States)

    Zou, Wen-Quan; Puoti, Gianfranco; Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Shimoji, Miyuki; Langeveld, Jan P. M.; Castellani, Rudy; Notari, Silvio; Crain, Barbara; Schmidt, Robert E.; Geschwind, Michael; DeArmond, Stephen J.; Cairns, Nigel J.; Dickson, Dennis; Honig, Lawrence; Torres, Juan Maria; Mastrianni, James; Capellari, Sabina; Giaccone, Giorgio; Belay, Ermias D.; Schonberger, Lawrence B.; Cohen, Mark; Perry, George; Kong, Qingzhong; Parchi, Piero; Tagliavini, Fabrizio; Gambetti, Pierluigi

    2011-01-01

    Objective The objective of the study is to report 2 new genotypic forms of protease-sensitive prionopathy (PSPr), a novel prion disease described in 2008, in 11 subjects all homozygous for valine at codon 129 of the prion protein (PrP) gene (129VV). The 2 new PSPr forms affect individuals who are either homozygous for methionine (129MM) or heterozygous for methionine/valine (129MV). Methods Fifteen affected subjects with 129MM, 129MV, and 129VV underwent comparative evaluation at the National Prion Disease Pathology Surveillance Center for clinical, histopathologic, immunohistochemical, genotypical, and PrP characteristics. Results Disease duration (between 22 and 45 months) was significantly different in the 129VV and 129MV subjects. Most other phenotypic features along with the PrP electrophoretic profile were similar but distinguishable in the 3 129 genotypes. A major difference laid in the sensitivity to protease digestion of the disease-associated PrP, which was high in 129VV but much lower, or altogether lacking, in 129MV and 129MM. This difference prompted the substitution of the original designation with “variably protease-sensitive prionopathy” (VPSPr). None of the subjects had mutations in the PrP gene coding region. Interpretation Because all 3 129 genotypes are involved, and are associated with distinguishable phenotypes, VPSPr becomes the second sporadic prion protein disease with this feature after Creutzfeldt-Jakob disease, originally reported in 1920. However, the characteristics of the abnormal prion protein suggest that VPSPr is different from typical prion diseases, and perhaps more akin to subtypes of Gerstmann-Sträussler-Scheinker disease. PMID:20695009

  19. Human regulatory T cells control xenogeneic graft-versus-host disease induced by autologous T cells in RAG2-/-gammac-/- immunodeficient mice.

    NARCIS (Netherlands)

    Mutis, T; Rijn, R.S. van; Simonetti, E.R.; Aarts-Riemens, T.; Emmelot, M.E.; Bloois, L. van; Martens, A.; Verdonck, L.F.; Ebeling, S.B.

    2006-01-01

    PURPOSE: Effective prevention of graft-versus-host disease (GvHD) is a major challenge to improve the safety of allogeneic stem cell transplantation for leukemia treatment. In murine transplantation models, administration of naturally occurring CD4+CD25+ regulatory T cells (Treg) can prevent GvHD.

  20. Motor function declines over time in human immunodeficiency virus and is associated with cerebrovascular disease, while HIV-associated neurocognitive disorder remains stable.

    Science.gov (United States)

    M Elicer, Isabel; Byrd, Desiree; Clark, Uraina S; Morgello, Susan; Robinson-Papp, Jessica

    2018-04-25

    HIV-associated neurocognitive disorders (HAND) remain prevalent in the combined antiretroviral therapy (CART) era, especially the milder forms. Despite these milder phenotypes, we have shown that motor abnormalities persist and have quantified them with the HIV Dementia Motor Scale (HDMS). Our objectives were to replicate, in an independent sample, our prior findings that the HDMS is associated with cognitive impairment in HIV, while adding consideration of age-associated comorbidities such as cerebrovascular disease, and to examine the longitudinal trajectories of cognitive and motor dysfunction. We included all participants enrolled in the Manhattan HIV Brain Bank (MHBB) from January 2007 to May 2017 who had complete baseline data (N = 164). MHBB participants undergo standardized longitudinal assessments including documentation of comorbidities and medications, blood work, the HDMS, and neurocognitive testing. We found that motor dysfunction, cognitive impairment, and cerebrovascular disease were significantly associated with each other at baseline. Cerebrovascular disease independently predicted cognitive impairment in a multivariable model. Longitudinal analysis in a subset of 78 participants with ≥ 4 years of follow-up showed a stable cognition but declining motor function. We conclude that the HDMS is a valid measurement of motor dysfunction in HIV-infected patients and is associated with cognitive impairment and the presence of cerebrovascular disease. Cognitive impairment is mild and stable in CART-treated HIV; however, motor function declines over time, which may be related to the accrual of comorbidities such as cerebrovascular disease. Further research should examine the mechanisms underlying motor dysfunction in HIV and its clinical impact.

  1. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

    NARCIS (Netherlands)

    Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.R.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.

    2008-01-01

    BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a

  2. From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.

    Science.gov (United States)

    Trigueros Genao, M; Torres, R J

    2014-11-01

    Lesch-Nyhan disease is a rare genetic disease characterized by a deficiency in the function of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Patients affected by this disease experience hyperuricemia, motor disorders, mental retardation and, in the most severe cases, self-mutilation. Its clinical manifestations depend on the enzymatic activity of HGPRT, which is classically linked to the type of alteration in the HGPRT gene. More than 400 mutations of this gene have been found. At present, one of the controversial aspects of the disease is the relationship between the genotype and phenotype; cases have been described lacking a mutation, such as the patient presented in this article, as well as families who despite sharing the same genetic defect show disorders with differing severity. Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. Pre-analytical and analytical factors influencing Alzheimer's disease cerebrospinal fluid biomarker variability.

    Science.gov (United States)

    Fourier, Anthony; Portelius, Erik; Zetterberg, Henrik; Blennow, Kaj; Quadrio, Isabelle; Perret-Liaudet, Armand

    2015-09-20

    A panel of cerebrospinal fluid (CSF) biomarkers including total Tau (t-Tau), phosphorylated Tau protein at residue 181 (p-Tau) and β-amyloid peptides (Aβ42 and Aβ40), is frequently used as an aid in Alzheimer's disease (AD) diagnosis for young patients with cognitive impairment, for predicting prodromal AD in mild cognitive impairment (MCI) subjects, for AD discrimination in atypical clinical phenotypes and for inclusion/exclusion and stratification of patients in clinical trials. Due to variability in absolute levels between laboratories, there is no consensus on medical cut-off value for the CSF AD signature. Thus, for full implementation of this core AD biomarker panel in clinical routine, this issue has to be solved. Variability can be explained both by pre-analytical and analytical factors. For example, the plastic tubes used for CSF collection and storage, the lack of reference material and the variability of the analytical protocols were identified as important sources of variability. The aim of this review is to highlight these pre-analytical and analytical factors and describe efforts done to counteract them in order to establish cut-off values for core CSF AD biomarkers. This review will give the current state of recommendations. Copyright © 2015. Published by Elsevier B.V.

  4. Climate related diseases. Current regional variability and projections to the year 2100

    Directory of Open Access Journals (Sweden)

    Błażejczyk Krzysztof

    2018-03-01

    Full Text Available The health of individuals and societies depends on different factors including atmospheric conditions which influence humans in direct and indirect ways. The paper presents regional variability of some climate related diseases (CRD in Poland: salmonellosis intoxications, Lyme boreliosis, skin cancers (morbidity and mortality, influenza, overcooling deaths, as well as respiratory and circulatory mortality. The research consisted of two stages: 1 statistical modelling basing on past data and 2 projections of CRD for three SRES scenarios of climate change (A1B, A2, B1 to the year 2100. Several simple and multiply regression models were found for the relationships between climate variables and CRD. The models were applied to project future levels of CRD. At the end of 21st century we must expect increase in: circulatory mortality, Lyme boreliosis infections and skin cancer morbidity and mortality. There is also projected decrease in: respiratory mortality, overcooling deaths and influenza infections.

  5. Cancers related to immunodeficiencies : Update and perspectives

    NARCIS (Netherlands)

    Mortaz, Esmaeil; Tabarsi, Payam; Mansouri, Davod; Khosravi, Adnan; Garssen, Johan; Velayati, Aliakbar; Adcock, Ian M.

    2016-01-01

    The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with

  6. Accounting for Pharmacokinetic Variability of Certolizumab Pegol in Patients with Crohn's Disease.

    Science.gov (United States)

    Vande Casteele, Niels; Mould, Diane R; Coarse, Jason; Hasan, Iram; Gils, Ann; Feagan, Brian; Sandborn, William J

    2017-12-01

    Certolizumab pegol is an effective biologic for patients with Crohn's disease (CD). Individual differences in certolizumab pegol apparent clearance (CL/F) affect exposure and possibly efficacy. A previously developed population pharmacokinetic (PK) model did not account for dynamic changes in clinical parameters during therapy. The aim of this study was to refine the existing PK model to capture the time-varying influence of covariates. Data collected from 2157 Crohn's disease patients in nine studies were analyzed using nonlinear mixed-effects modeling software (NONMEM). Certolizumab pegol concentration-time data were described by a one-compartment PK model with first-order absorption, and one-compartment disposition with linear, time-dependent elimination using antidrug antibody (ADAb) concentration as a continuous variable. The final dataset consisted of 12,926 analyzable records. Parameter estimates were absorption rate constant 1.83/day, CL/F 0.527 L/day, and apparent volume of distribution (V/F) 8.33 L. ADAb concentration (2.5-214 units/mL) increased the median CL/F by 142-174%. For a typical patient, body weight (46.8-100.5 kg) increased the median CL/F and V/F from 82 to 120%. Albumin (32-48 g/L) decreased and C-reactive protein (0.5-54.0 mg/L) increased the median CL/F from 123 to 85% and from 83 to 113%, respectively. Between-patient variability of CL/F was 19.6%. By incorporating time-varying covariates, this population PK model reduces between-patient variability on CL/F estimates, and the relative influence of ADAb can now be assessed. As Crohn's disease patient covariates are often time-dependent, this model is more reflective of patient drug exposure with sustained treatment.

  7. Evaluation of Clinical and Laboratory Data in Patients with Recurrent Infections and Suspected Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Hamid Ahanchian

    2014-09-01

    Full Text Available Background: Frequent infections is among the most frequent clinical dilemmas for primary care physicians. Immunodeficiency disorders are a heterogeneous group of illnesses that predispose patients to the recurrent infections, autoimmunity and malignancies. The aim of this study was to evaluate the clinical and laboratory data collected for the final diagnosis of patients referred with recurrent infections and suspected immunodeficiency to a local immunodeficiency clinic.   Methods: This epidemiological study was carried out between April 2010 and September 2012 at the Immunodeficiency Clinic of Mashhad. All patients with clinical manifestations of immunodeficiency who were referred to our clinic during this period of time were included in this study. 41 patients aged from 10 months to 51 years, were evaluated. Results: Forty one patients, aged between 10 months and 51 years were evaluated. Eleven patients had a primary immunodeficiency, four cases had a secondary immunodeficiency, in three patients an underlying structural disease were found, eight patients were predisposed to recurrent infections as a result of allergies and finally, fifteen cases were found to be normal individuals.   Discussion: Most patients with recurrent infection have a normal immune system. Allergic disorders are the most common predisposing factor to recurrent infection. However, as immunodeficiency disorders are potentially serious, early diagnosis can improve the quality of life and outcome and prevent severe sequels in future.

  8. A Validated Smartphone-Based Assessment of Gait and Gait Variability in Parkinson's Disease.

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    Robert J Ellis

    Full Text Available A well-established connection exists between increased gait variability and greater fall likelihood in Parkinson's disease (PD; however, a portable, validated means of quantifying gait variability (and testing the efficacy of any intervention remains lacking. Furthermore, although rhythmic auditory cueing continues to receive attention as a promising gait therapy for PD, its widespread delivery remains bottlenecked. The present paper describes a smartphone-based mobile application ("SmartMOVE" to address both needs.The accuracy of smartphone-based gait analysis (utilizing the smartphone's built-in tri-axial accelerometer and gyroscope to calculate successive step times and step lengths was validated against two heel contact-based measurement devices: heel-mounted footswitch sensors (to capture step times and an instrumented pressure sensor mat (to capture step lengths. 12 PD patients and 12 age-matched healthy controls walked along a 26-m path during self-paced and metronome-cued conditions, with all three devices recording simultaneously.Four outcome measures of gait and gait variability were calculated. Mixed-factorial analysis of variance revealed several instances in which between-group differences (e.g., increased gait variability in PD patients relative to healthy controls yielded medium-to-large effect sizes (eta-squared values, and cueing-mediated changes (e.g., decreased gait variability when PD patients walked with auditory cues yielded small-to-medium effect sizes-while at the same time, device-related measurement error yielded small-to-negligible effect sizes.These findings highlight specific opportunities for smartphone-based gait analysis to serve as an alternative to conventional gait analysis methods (e.g., footswitch systems or sensor-embedded walkways, particularly when those methods are cost-prohibitive, cumbersome, or inconvenient.

  9. Impact of Hospital Variables on Case Mix Index as a Marker of Disease Severity

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    Mendez, Carmen M.; Harrington, Darrell W.; Christenson, Peter

    2014-01-01

    Abstract Case mix index (CMI) has become a standard indicator of hospital disease severity in the United States and internationally. However, CMI was designed to calculate hospital payments, not to track disease severity, and is highly dependent on documentation and coding accuracy. The authors evaluated whether CMI varied by characteristics affecting hospitals' disease severity (eg, trauma center or not). The authors also evaluated whether CMI was lower at public hospitals than private hospitals, given the diminished financial resources to support documentation enhancement at public hospitals. CMI data for a 14-year period from a large public database were analyzed longitudinally and cross-sectionally to define the impact of hospital variables on average CMI within and across hospital groups. Between 1996 and 2007, average CMI declined by 0.4% for public hospitals, while rising significantly for private for-profit (14%) and nonprofit (6%) hospitals. After the introduction of the Medicare Severity Diagnosis Related Group (MS-DRG) system in 2007, average CMI increased for all 3 hospital types but remained lowest in public vs. private for-profit or nonprofit hospitals (1.05 vs. 1.25 vs. 1.20; P<0.0001). By multivariate analysis, teaching hospitals, level 1 trauma centers, and larger hospitals had higher average CMI, consistent with a marker of disease severity, but only for private hospitals. Public hospitals had lower CMI across all subgroups. Although CMI had some characteristics of a disease severity marker, it was lower across all strata for public hospitals. Hence, caution is warranted when using CMI to adjust for disease severity across public vs. private hospitals. (Population Health Management 2014;17:28–34) PMID:23965045

  10. Tuberculose como doença definidora de síndrome da imunodeficiência adquirida: dez anos de evolução na Cidade do Rio de Janeiro Tuberculosis as a disease defining acquired immunodeficiency syndrome: ten years of surveillance in Rio de Janeiro, Brazil

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    Elizabeth Cristina Coelho Soares

    2006-10-01

    Program for the Surveillance of Sexually Transmitted Diseases and Acquired Immunodeficiency Syndrome database from 1993 to 2002. RESULTS: The expanded definition of a case of acquired immunodeficiency syndrome, implemented in 1998, resulted in a substantial increase in the number of reported cases of acquired immunodeficiency syndrome, especially of those defined by immunologic criteria. Among the cases of acquired immunodeficiency syndrome defined only by disease, esophageal candidiasis, in its various forms, remained the most common opportunistic infection present at the time the cases of acquired immunodeficiency syndrome were reported. Although Pneumocystis carinii pneumonia was the second leading opportunistic infection in most of the years evaluated, it was surpassed by tuberculosis in 2001. CONCLUSION: Despite the decreased numbers of cases of acquired immunodeficiency syndrome defined by disease, tuberculosis remains a significant acquired immunodeficiency syndrome-defining event, currently more common than P. carinii pneumonia and toxoplasmosis. This is probably due to the high rate of tuberculosis prevalence in the city.

  11. Spatial analysis of feline immunodeficiency virus infection in cougars.

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    Wheeler, David C; Waller, Lance A; Biek, Roman

    2010-07-01

    The cougar (Puma concolor) is a large predatory feline found widely in the Americas that is susceptible to feline immunodeficiency virus (FIV), a fast-evolving lentivirus found in wild feline species that is analogous to simian immunodeficiency viruses in wild primates and belongs to the same family of viruses as human immunodeficiency virus. FIV infection in cougars can lead to a weakened immune system that creates opportunities for other infecting agents. FIV prevalence and lineages have been studied previously in several areas in the western United States, but typically without spatially explicit statistical techniques. To describe the distribution of FIV in a sample of cougars located in the northern Rocky Mountain region of North America, we first used kernel density ratio estimation to map the log relative risk of FIV. The risk surface showed a significant cluster of FIV in northwestern Montana. We also used Bayesian cluster models for genetic data to investigate the spatial structure of the feline immunodeficiency virus with virus genetic sequence data. A result of the models was two spatially distinct FIV lineages that aligned considerably with an interstate highway in Montana. Our results suggest that the use of spatial information and models adds novel insight when investigating an infectious animal disease. The results also suggest that the influence of landscape features likely plays an important role in the spatiotemporal spread of an infectious disease within wildlife populations.

  12. Von recklinghausens disease: a series of four cases with variable expression.

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    Arun, K P; Thomas Joseph, P; Jaishankar, H P; Abhinethra, M S

    2015-03-01

    Though neurofibromatosis type I (NFI) is a fairly common condition, it has a variable expressivity and penetrance. Here we present a series of cases with striking differences in the presentation especially in the oral cavity. NFI, also known as von Recklinghausen's neurofibromatosis, is an autosomal dominantly inherited neurogenetic disorder affecting 1:3000 newborn (Bongiorno et al., Oral Dis 12:125-129, 2006). About 50 % of NFI patients have no family history of the disease. There is no prevalence for gender or race in NFI. Expressivity in NFI is tremendously variable, but subtle phenotypic patterns may exist within subgroups of affected patients. Furthermore, 50 % of cases are sporadic and arise from germ cell mutation (Bongiorno et al., Oral Dis 12:125-129, 2006). The precise constellation of findings in any one individual is extremely variable, both within a family and between different families (Batsakis, Tumors of the head and neck: clinical and pathological considerations, 2nd edn. Williams and Wilkins, Baltimore, pp 313-333, 1979). Only 4-7 % of patients affected by neurofibromatosis exhibit oral manifestations (Güneri et al., Turk J Pediatr 48(2):155-158, 2006).

  13. Rapid assessment of sexual behavior, drug use, human immunodeficiency virus, and sexually transmitted diseases in northern thai youth using audio-computer-assisted self-interviewing and noninvasive specimen collection.

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    van Griensven, F; Supawitkul, S; Kilmarx, P H; Limpakarnjanarat, K; Young, N L; Manopaiboon, C; Mock, P A; Korattana, S; Mastro, T D

    2001-07-01

    Drug use, unwanted pregnancy, human immunodeficiency virus (HIV) infection, and sexually transmitted diseases are serious health problems among Thai youth. The gravity of these problems demands high-quality data to direct public health policy and prevention programs. Previous studies of stigmatized behaviors have been hampered by participation bias and underreporting. To evaluate sexual behavior, disease, and drug use, we used audio-computer-assisted self-interviewing (ACASI) and noninvasive specimen collection methods. We also evaluated effectiveness of these methods in minimizing participation bias and underreporting. In late 1999, students aged 15 to 21 years attending 3 vocational schools were invited to participate in a cross-sectional survey. Consenting students completed a classroom-based ACASI interview using a confidential code number system. Oral fluid specimens were tested for HIV antibodies, and urine was tested for chlamydial and gonococcal nucleic acids, methamphetamines, and opiates. Of 1736 invited students, 1725 (99%) agreed to participate. Of these, 48% of the male students and 43% of the female students reported ever having had sexual intercourse. Overall, the mean number of lifetime sexual partners was 4.6 among male participants (median: 2) and 2.8 among female participants (median: 1). Consistent use of condoms with steady partners was reported by 16% of male participants and 11% of female participants who had such partners. Of all male participants, 7% had ever paid for sex, 3% had ever sold sex, and 7% had ever been coerced to have sex. Of all female participants, 3% had ever sold sex and 21% had ever been coerced to have sex. Among women with a history of sexual intercourse, 27% reported at least 1 pregnancy. Of these pregnancies, 83% were terminated. Among those with sexual intercourse experience, the prevalence of HIV infection was 0.5%; of infection with Neisseria gonorrhoeae, 0.4%; and of infection with Chlamydia trachomatis, 5%. Twenty

  14. First Evidence for the Disease-Stage, Cell-Type, and Virus Specificity of microRNAs during Human Immunodeficiency Virus Type-1 Infection

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    Lauren Fowler

    2016-05-01

    Full Text Available The potential involvement of host microRNAs (miRNAs in HIV infection is well documented, and evidence suggests that HIV modulates and also dysregulates host miRNAs involved in maintaining the host innate immune system. Moreover, the dysregulation of host miRNAs by HIV also effectively interferes directly with the host gene expression. In this study, we have simultaneously evaluated the expression of host miRNAs in both CD4+ and CD8+ T-cells derived from HIV-positive (HIV+ individuals (viremic and aviremic individuals while receiving highly active antiretroviral therapy (HAART, therapy-naïve long-term non-progressors (LTNP, and HIV-negative (HIV– healthy controls. miRNAs were run on Affymetrix V2 chips, and the differential expression between HIV+ and HIV− samples, along with intergroup comparisons, was derived using PARTEK software, using an FDR of 5% and an adjusted p-value < 0.05. The miR-199a-5p was found to be HIV-specific and expressed in all HIV+ groups as opposed to HIV– controls. Moreover, these are the first studies to reveal clearly the highly discriminatory miRNAs at the level of the disease state, cell type, and HIV-specific miRNAs.

  15. Depressed mood, positive affect, and heart rate variability in patients with suspected coronary artery disease.

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    Bhattacharyya, Mimi R; Whitehead, Daisy L; Rakhit, Roby; Steptoe, Andrew

    2008-11-01

    To test associations between heart rate variability (HRV), depressed mood, and positive affect in patients with suspected coronary artery disease (CAD). Depression is associated with impaired HRV post acute cardiac events, but evidence in patients with stable coronary artery disease (CAD) is inconsistent. Seventy-six patients (52 men, 24 women; mean age = 61.1 years) being investigated for suspected CAD on the basis of symptomatology and positive noninvasive tests, completed 24-hour electrocardiograms. The Beck Depression Inventory (BDI) was administered, and positive and depressed affect was measured over the study period with the Day Reconstruction Method (DRM). A total of 46 (60.5%) patients were later found to have definite CAD. HRV was analyzed, using spectral analysis. Typical diurnal profiles of HRV were observed, with greater normalized high frequency (HF) and lower normalized low frequency (LF) power in the night compared with the day. BDI depression scores were not consistently associated with HRV. But positive affect was associated with greater normalized HF power (p = .039) and reduced normalized LF power (p = .007) independently of age, gender, medication with beta blockers, CAD status, body mass index, smoking, and habitual physical activity level. In patients with definite CAD, depressed affect assessed using the DRM was associated with reduced normalized HF power and heightened normalized LF power (p = .007) independently of covariates. Relationships between depression and HRV in patients with CAD may depend on affective experience over the monitoring period. Enhanced parasympathetic cardiac control may be a process through which positive affect protects against cardiovascular disease.

  16. Use of etanercept in human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) patients.

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    Ting, Patricia T; Koo, John Y

    2006-06-01

    Etanercept (Enbrel, Amgen, Thousand Oaks, CA), a soluble p75 tumor necrosis factor receptor:FC (TNFR:FC) fusion protein for plasma cytokines, specifically tumor necrosis factor-alpha (TNF-alpha), is used in the treatment of immune-mediated rheumatic diseases. To our knowledge, the use of etanercept in patients with human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) is relatively uncommon. The main purpose of this short review is to examine the safety of etanercept in patients with HIV/AIDS. A Medline search was conducted using the keywords etanercept and HIV and/or AIDS for any published articles between 1966 to the present (September 2004). A case report, one case series, and one clinical trial pertained to the use of etanercept in HIV patients. No reports were found on the use of etanercept in AIDS. In addition, two case reports were found documenting the use of infliximab in HIV patients. Preliminary reports indicate that the administration of etanercept does not appear to increase the morbidity or mortality rates in HIV. The inhibition of TNF-alpha may actually improve the symptoms of HIV/AIDS-associated aphthous ulcers, cachexia, dementia, fatigue, and fever, as well as help manage concomitant rheumatic diseases and psoriasis. The use of etanercept shows promise for applications in disease management in patients with HIV/AIDS. Continued research efforts are necessary to establish the long-term safety and efficacy of etanercept and other biologic agents in this patient population.

  17. Biochemical and Clinical Variables of Normal Parathyroid and Hyperparathyroid Diabetic Chronic Kidney Disease Patients

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    Syed Abdul Kader

    2016-09-01

    Full Text Available Background: In chronic kidney disease (CKD intact parathyroid hormone (iPTH level is often increased before clinical hyperphosphatemia occurs. Despite its importance very few studies evaluated parathyroid status in CKD. Objective: The study was undertaken to estimate level of parathormone in diabetic CKD patients at a tertiary level hospital and assessing its relationship with different parameters like hemoglobin, calcium etc. and comparing biochemical and clinical variables between normal parathyroid and hyperparathyroid groups. Materials and Methods: It was a hospital based cross-sectional study involving purposively selected chronic kidney disease patients attending nephrology and endocrinology outdoor and indoor services of BIRDEM hospital, Dhaka, Bangladesh. Study was conducted during the period of April to October 2010. All the subjects were divided into two groups based on serum parathormone level and different parameters were compared between groups. Results: The mean duration of chronic kidney disease was significantly higher in hyperparathyroid group than that in the normal group (<0.001. Retinopathy and hypertension were more common in hyperparathyroid group than that in patients with normal serum parathormone (p<0.001 and p=0.012. Neuropathy was solely present in hyperparathyroid group (p<0.001. Mean fasting blood glucose, serum creatinine and serum phosphate were significantly higher in the hyperparathyroid group compared to normal group (p<0.001 in all cases while the mean serum calcium and haemoglobin were lower in hyperparathyroid group than those in the normal group (p<0.001 in both cases. Serum creatinine and serum parathormone bears a significantly linear relationship (r=0.986, p<0.001, while serum parathormone and serum calcium bears a significantly negative relationship (r=−0.892 and p<0.001. Conclusion: Earlier intervention on the basis of iPTH in addition to other biochemical parameters of chronic kidney disease is

  18. EFFECT OF BRONCHODILATORS ON HEART RATE VARIABILITY IN PATIENTS WITH CHRONIC OBSTRUCTIVE PULMONARY DISEASE

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    H. H. Shugushev

    2015-12-01

    Full Text Available Aim. To study effect of long-acting theophylline (Theotard, KRKA and combination of salmeterol and fluticasone (Seretide, GlaxoSmithKline on heart rhythm variability (HRV and number of arrhythmic episodes in patients with chronic obstructive pulmonary disease (COPD.Material and methods. 144 patients with COPD and 35 patients of control group were examined. The analysis of HRV and Holter monitoring were made f on 2th and 14th days.Results. Treatment with both drugs led to increase in power of low- and high frequencies and their ratio (LF/HF, decrease in rate of supraventricular and ventricular arrhythmias. Theophylline therapy raised in a number of single and pair supraventricular extrasystoles. Treatment with combination of salmeterol and fluticasone did not change a number of extrasystoles.Conclusion. Combination of salmeterol and fluticasone is more preferable as a broncholytic therapy for patients with COPD and heart rhythm disorders.

  19. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

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    Celeste Sassi

    Full Text Available The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP, is a central event in Alzheimer's disease (AD(Amyloid hypothesis. Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 genes involved in APP processing, Aβ degradation and clearance. We then used exome and genome sequencing to investigate the single independent (single-variant association test and cumulative (gene-based association test effect of coding variants in these genes as potential susceptibility factors for AD, in a cohort composed of 332 sporadic and mainly late-onset AD cases and 676 elderly controls from North America and the UK. Our study shows that common coding variability in these genes does not play a major role for the disease development. In the single-variant association analysis, the main hits, none of which statistically significant after multiple testing correction (1.9e-4variability in APP-Aβ genes is not a critical factor for AD development and 2 Aβ degradation and clearance, rather than Aβ production, may play a key role in the etiology of sporadic AD.

  20. [Interdisciplinary AWMF guideline for the diagnostics of primary immunodeficiency].

    Science.gov (United States)

    Farmand, S; Baumann, U; von Bernuth, H; Borte, M; Foerster-Waldl, E; Franke, K; Habermehl, P; Kapaun, P; Klock, G; Liese, J; Marks, R; Müller, R; Nebe, T; Niehues, T; Schuster, V; Warnatz, K; Witte, T; Ehl, S; Schulze, I

    2011-11-01

    Primary immunodeficiencies are potentially life-threatening diseases. Over the last years, the clinical phenotype and the molecular basis of an increasing number of immunological defects have been characterized. However, in daily practice primary immunodeficiencies are still often diagnosed too late. Considering that an early diagnosis may reduce morbidity and mortality of affected patients, an interdisciplinary guideline for the diagnosis of primary immunodeficiencies was developed on behalf of the Arbeitsgemeinschaft Pädiatrische Immunologie (API) and the Deutsche Gesellschaft für Immunologie (DGfI). The guideline is based on expert opinion and on knowledge from other guidelines and recommendations from Germany and other countries, supplemented by data from studies that support the postulated key messages (level of evidence III). With the contribution of 20 representatives, belonging to 14 different medical societies and associations, a consensus-based guideline with a representative group of developers and a structured consensus process was created (S2k). Under the moderation of a representative of the Association of the Scientific Medical Societies in Germany (AWMF) the nominal group process took place in April 2011. The postulated key messages were discussed and voted on following a structured consensus procedure. In particular, modified warning signs for primary immunodeficiencies were formulated and immunological emergency situations were defined. © Georg Thieme Verlag KG Stuttgart · New York.

  1. BCGitis and BCGosis in children with primary immunodeficiency - imaging characteristics

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    Shrot, Shai; Soudack, Michalle [Sheba Medical Center, Department of Diagnostic Imaging, Ramat-Gan (Israel); Tel Aviv University, Sackler School of Medicine, Tel Aviv (Israel); Barkai, Galia [Sheba Medical Center, Pediatric Infectious Diseases Unit, Safra Children' s Hospital, Tel-Hashomer (Israel); Ben-Shlush, Aviva [Sheba Medical Center, Department of Diagnostic Imaging, Ramat-Gan (Israel)

    2016-02-15

    When administered to an immune-compromised patient, BCG (Bacille Calmette-Guerin) can cause disseminated and life-threatening infections. To describe the imaging findings in children with primary immunodeficiency and BCG-related infections. We reviewed the imaging findings of children with primary immunodeficiency treated at a children's hospital during 2012-2014 with localized or disseminated BCG infection. Imaging modalities included US, CT and radiography. Nine children with primary immunodeficiency had clinical signs of post-vaccination BCGitis; seven of these children showed disseminated disease and two showed only regional lesions with characteristic ipsilateral lymphadenopathy. Overall, lymphadenopathy was the most prevalent feature (n = 8) and characteristically appeared as a ring-enhancing hypodense (CT) or hypoechoic (US) lesion. Visceral involvement with multiple abscesses appeared in the spleen (n = 2), liver (n = 1) and bones (n = 1). All lesions regressed following appropriate anti-tuberculosis treatment. BCG infection needs to be considered in children with typical findings and with suspected primary immunodeficiency. (orig.)

  2. Review of Coconut “Lethal Yellowing” type diseases Diversity, variability and diagnosis

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    Dollet Michel

    2009-03-01

    Full Text Available Coconut palms (Cocos nucifera L. can be affected by several types of Lethal Yellowing (LY diseases worldwide. Some of the syndromes are caused by phytoplasmas, small bacteria that are impossible to detect by light microscopy. Amplification of a given gene of the phytoplasmas by polymerase chain reaction (PCR is the most convenient diagnosis method. The problem is that there are at least 28 “groups” of phytoplasmas and only one pair of primers -P1/P7- commonly used for PCR. As these primers belong to a very conserved gene, false positives are frequent. Consequently, alternative primers specific to one “strain” (or subgroup have to be used, such as LY-F/LY-R for the Caribbean LY, Rohde primers for LD Tanzania. Such specific primers are sometimes restrictive. Indeed, there is variability within each strain and the sequence of the primers has to be adapted to that variability. There are at least five LY subgroups. The subgroups can only be identified by restriction fragment length polymorphism or sequencing. In Africa, two subgroups of LY phytoplasmas have been identified so far.

  3. Sex and family history of cardiovascular disease influence heart rate variability during stress among healthy adults.

    Science.gov (United States)

    Emery, Charles F; Stoney, Catherine M; Thayer, Julian F; Williams, DeWayne; Bodine, Andrew

    2018-07-01

    Studies of sex differences in heart rate variability (HRV) typically have not accounted for the influence of family history (FH) of cardiovascular disease (CVD). This study evaluated sex differences in HRV response to speech stress among men and women (age range 30-49 years) with and without a documented FH of CVD. Participants were 77 adults (mean age = 39.8 ± 6.2 years; range: 30-49 years; 52% female) with positive FH (FH+, n = 32) and negative FH (FH-, n = 45) of CVD, verified with relatives of participants. Cardiac activity for all participants was recorded via electrocardiogram during a standardized speech stress task with three phases: 5-minute rest, 5-minute speech, and 5-minute recovery. Outcomes included time domain and frequency domain indicators of HRV and heart rate (HR) at rest and during stress. Data were analyzed with repeated measures analysis of variance, with sex and FH as between subject variables and time/phase as a within subject variable. Women exhibited higher HR than did men and greater HR reactivity in response to the speech stress. However, women also exhibited greater HRV in both the time and frequency domains. FH+ women generally exhibited elevated HRV, despite the elevated risk of CVD associated with FH+. Although women participants exhibited higher HR at rest and during stress, women (both FH+ and FH-) also exhibited elevated HRV reactivity, reflecting greater autonomic control. Thus, enhanced autonomic function observed in prior studies of HRV among women is also evident among FH+ women during a standardized stress task. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Cortical Brain Atrophy and Intra-Individual Variability in Neuropsychological Test Performance in HIV Disease

    Science.gov (United States)

    HINES, Lindsay J.; MILLER, Eric N.; HINKIN, Charles H.; ALGER, Jeffery R.; BARKER, Peter; GOODKIN, Karl; MARTIN, Eileen M.; MARUCA, Victoria; RAGIN, Ann; SACKTOR, Ned; SANDERS, Joanne; SELNES, Ola; BECKER, James T.

    2015-01-01

    Objective To characterize the relationship between dispersion-based intra-individual variability (IIVd) in neuropsychological test performance and brain volume among HIV seropositive and seronegative men and to determine the effects of cardiovascular risk and HIV infection on this relationship. Methods Magnetic Resonance Imaging (MRI) was used to acquire high-resolution neuroanatomic data from 147 men age 50 and over, including 80 HIV seropositive (HIV+) and 67 seronegative controls (HIV−) in this cross-sectional cohort study. Voxel Based Morphometry was used to derive volumetric measurements at the level of the individual voxel. These brain structure maps were analyzed using Statistical Parametric Mapping (SPM2). IIVd was measured by computing intra-individual standard deviations (ISD’s) from the standardized performance scores of five neuropsychological tests: Wechsler Memory Scale-III Visual Reproduction I and II, Logical Memory I and II, Wechsler Adult Intelligence Scale-III Letter Number Sequencing. Results Total gray matter (GM) volume was inversely associated with IIVd. Among all subjects, IIVd -related GM atrophy was observed primarily in: 1) the inferior frontal gyrus bilaterally, the left inferior temporal gyrus extending to the supramarginal gyrus, spanning the lateral sulcus; 2) the right superior parietal lobule and intraparietal sulcus; and, 3) dorsal/ventral regions of the posterior section of the transverse temporal gyrus. HIV status, biological, and cardiovascular disease (CVD) variables were not linked to IIVd -related GM atrophy. Conclusions IIVd in neuropsychological test performance may be a sensitive marker of cortical integrity in older adults, regardless of HIV infection status or CVD risk factors, and degree of intra-individual variability links with volume loss in specific cortical regions; independent of mean-level performance on neuropsychological tests. PMID:26303224

  5. Variability of age at onset in siblings with familial Alzheimer disease.

    Science.gov (United States)

    Gómez-Tortosa, Estrella; Barquero, M Sagrario; Barón, Manuel; Sainz, M Jose; Manzano, Sagrario; Payno, Maria; Ros, Raquel; Almaraz, Carmen; Gómez-Garré, Pilar; Jiménez-Escrig, Adriano

    2007-12-01

    Variability of age at onset (AO) of Alzheimer disease (AD) among members of the same family is important as a biological clue and because of its clinical effects. To evaluate which clinical variables influence the discrepancy in AO among affected relatives with familial AD. Clinical genetic project of Spanish kindred with AD conducted by 4 academic hospitals in Madrid, Spain. Age at onset of AD in 162 families and discrepancy in AO in intragenerational and intergenerational affected pairs were analyzed in relation to age, sex, maternal or paternal transmission, pattern of inheritance, and apolipoprotein E genotype. Maternal transmission of AD was significantly more frequent than paternal transmission (P patient was 65 years old. Discrepancy in AO among siblings was within 5 years in 44% of the families, 6 to 10 years in 29%, and more than 10 years in 27% (range, 0-22). This discrepancy was independent of the sex of the sibling pairs and was significantly lower with maternal transmission of AD (P = .02). Segregation analysis showed no differences in the inheritance pattern between families with low (5 years) AO discrepancy. Age at onset in carriers of the apolipoprotein E epsilon4 allele was slightly younger. However, among siblings, an extra apolipoprotein E epsilon4 allele was not consistently associated with earlier onset of AD. Eighty percent of patients, independent of sex or mode of transmission, were already affected at their parents' reported AO. There is a wide discrepancy in AO in affected siblings that is not clearly explained by a single clinical variable or apolipoprotein E genotype. The interaction of many factors probably determines AO in each affected individual. However, maternal transmission of AD seems to result in a similar AO in offspring, and the risk of developing dementia after the parent's reported AO decreases significantly.

  6. Motor output variability, deafferentation, and putative deficits in kinesthetic reafference in Parkinson's disease.

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    Torres, Elizabeth B; Cole, Jonathan; Poizner, Howard

    2014-01-01

    Parkinson's disease (PD) is a neurodegenerative disorder defined by motor impairments that include rigidity, systemic slowdown of movement (bradykinesia), postural problems, and tremor. While the progressive decline in motor output functions is well documented, less understood are impairments linked to the continuous kinesthetic sensation emerging from the flow of motions. There is growing evidence in recent years that kinesthetic problems are also part of the symptoms of PD, but objective methods to readily quantify continuously unfolding motions across different contexts have been lacking. Here we present evidence from a deafferented subject (IW) and a new statistical platform that enables new analyses of motor output variability measured as a continuous flow of kinesthetic reafferent input. Systematic increasing similarities between the patterns of motor output variability in IW and the participants with increasing degrees of PD severity suggest potential deficits in kinesthetic sensing in PD. We propose that these deficits may result from persistent, noisy, and random motor patterns as the disorder progresses. The stochastic signatures from the unfolding motions revealed levels of noise in the motor output fluctuations of these patients bound to decrease the kinesthetic signal's bandwidth. The results are interpreted in light of the concept of kinesthetic reafference ( Von Holst and Mittelstaedt, 1950). In this context, noisy motor output variability from voluntary movements in PD leads to a returning stream of noisy afference caused, in turn, by those faulty movements themselves. Faulty efferent output re-enters the CNS as corrupted sensory motor input. We find here that severity level in PD leads to the persistence of such patterns, thus bringing the statistical signatures of the subjects with PD systematically closer to those of the subject without proprioception.

  7. Motor output variability, deafferentation, and putative deficits in kinesthetic reafference in Parkinson’s disease

    Science.gov (United States)

    Torres, Elizabeth B.; Cole, Jonathan; Poizner, Howard

    2014-01-01

    Parkinson’s disease (PD) is a neurodegenerative disorder defined by motor impairments that include rigidity, systemic slowdown of movement (bradykinesia), postural problems, and tremor. While the progressive decline in motor output functions is well documented, less understood are impairments linked to the continuous kinesthetic sensation emerging from the flow of motions. There is growing evidence in recent years that kinesthetic problems are also part of the symptoms of PD, but objective methods to readily quantify continuously unfolding motions across different contexts have been lacking. Here we present evidence from a deafferented subject (IW) and a new statistical platform that enables new analyses of motor output variability measured as a continuous flow of kinesthetic reafferent input. Systematic increasing similarities between the patterns of motor output variability in IW and the participants with increasing degrees of PD severity suggest potential deficits in kinesthetic sensing in PD. We propose that these deficits may result from persistent, noisy, and random motor patterns as the disorder progresses. The stochastic signatures from the unfolding motions revealed levels of noise in the motor output fluctuations of these patients bound to decrease the kinesthetic signal’s bandwidth. The results are interpreted in light of the concept of kinesthetic reafference ( Von Holst and Mittelstaedt, 1950). In this context, noisy motor output variability from voluntary movements in PD leads to a returning stream of noisy afference caused, in turn, by those faulty movements themselves. Faulty efferent output re-enters the CNS as corrupted sensory motor input. We find here that severity level in PD leads to the persistence of such patterns, thus bringing the statistical signatures of the subjects with PD systematically closer to those of the subject without proprioception. PMID:25374524

  8. Regulatory T cells and immunodeficiency in mycosis fungoides and Sézary syndrome

    DEFF Research Database (Denmark)

    Krejsgaard, Thorbjørn Frej; Ødum, Niels; Geisler, Carsten

    2012-01-01

    Cutaneous T-cell lymphoma (CTCL) is the term for diseases characterized by primary accumulation of malignant T cells in the skin. Patients with the two predominant clinical forms of CTCL called mycosis fungoides (MF) and Sézary syndrome (SS) characteristically develop severe immunodeficiency duri...... in MF and SS and discuss the potential mechanisms driving the immunodeficiency.Leukemia advance online publication, 9 September 2011; doi:10.1038/leu.2011.237....

  9. The Puzzling Role of CXCR4 in Human Immunodeficiency Virus Infection

    OpenAIRE

    Elisa Vicenzi, Pietro Liò, Guido Poli

    2013-01-01

    The human immunodeficiency virus type-1 (HIV-1) is the etiological agent of the acquired immunodeficiency syndrome (AIDS), a disease highly lethal in the absence of combination antiretroviral therapy. HIV infects CD4+ cells of the immune system (T cells, monocyte-macrophages and dendritic cells) via interaction with a universal primary receptor, the CD4 molecule, followed by a mandatory interaction with a second receptor (co-receptor) belonging to the chemokine receptor family. Apart from som...

  10. Improved classification of Alzheimer's disease data via removal of nuisance variability.

    Directory of Open Access Journals (Sweden)

    Juha Koikkalainen

    Full Text Available Diagnosis of Alzheimer's disease is based on the results of neuropsychological tests and available supporting biomarkers such as the results of imaging studies. The results of the tests and the values of biomarkers are dependent on the nuisance features, such as age and gender. In order to improve diagnostic power, the effects of the nuisance features have to be removed from the data. In this paper, four types of interactions between classification features and nuisance features were identified. Three methods were tested to remove these interactions from the classification data. In stratified analysis, a homogeneous subgroup was generated from a training set. Data correction method utilized linear regression model to remove the effects of nuisance features from data. The third method was a combination of these two methods. The methods were tested using all the baseline data from the Alzheimer's Disease Neuroimaging Initiative database in two classification studies: classifying control subjects from Alzheimer's disease patients and discriminating stable and progressive mild cognitive impairment subjects. The results show that both stratified analysis and data correction are able to statistically significantly improve the classification accuracy of several neuropsychological tests and imaging biomarkers. The improvements were especially large for the classification of stable and progressive mild cognitive impairment subjects, where the best improvements observed were 6% units. The data correction method gave better results for imaging biomarkers, whereas stratified analysis worked well with the neuropsychological tests. In conclusion, the study shows that the excess variability caused by nuisance features should be removed from the data to improve the classification accuracy, and therefore, the reliability of diagnosis making.

  11. Bronchogenic carcinoma in acquired immunodeficiency syndrome - report of two cases

    International Nuclear Information System (INIS)

    Siciliano, Antonio Alexandre de Oliveira; Melo, Alessandro Severo Alves de; Marchiori, Edson

    1999-01-01

    The authors report two cases of bronchogenic carcinoma in patients with acquired immunodeficiency syndrome. The first patient, a ee-year-old male, developed a left hilar adenocarcinoma, with spleen and bilateral adrenal metastases. The disease progressed unfavourably, resulting in the patient's death in less than a month. The second patient, a 47-year-old male, developed a large mass in the left upper lobe, with invasion of the thoracic wall and destruction of adjacent ribs. The histopathologic study revealed a non-oat-cell carcinoma. Both patients received palliative treatment since diagnosis was established late in the course of the disease. Recent studies suggest an association between bronchogenic carcinoma and human immunodeficiency virus infection. However, an actual increase in the prevalence of bronchogenic carcinoma in HIV-positive patients remains controversial. (author)

  12. Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review

    Directory of Open Access Journals (Sweden)

    Claire Rouzaud

    2015-12-01

    Full Text Available Dermatophytes are keratinophilic fungi responsible for benign and common forms of infection worldwide. However, they can lead to rare and severe diseases in immunocompromised patients. Severe forms include extensive and/or invasive dermatophytosis, i.e., deep dermatophytosis and Majocchi’s granuloma. They are reported in immunocompromised hosts with primary (autosomal recessive CARD9 deficiency or acquired (solid organ transplantation, autoimmune diseases requiring immunosuppressive treatments, HIV infection immunodeficiencies. The clinical manifestations of the infection are not specific. Lymph node and organ involvement may also occur. Diagnosis requires both mycological and histological findings. There is no consensus on treatment. Systemic antifungal agents such as terbinafine and azoles (itraconazole or posaconazole are effective. However, long-term outcome and treatment management depend on the site and extent of the infection and the nature of the underlying immunodeficiency.

  13. Primary immunodeficiency leading to mycobacterial disease

    Directory of Open Access Journals (Sweden)

    Esther van de Vosse

    2015-01-01

    To facilitate the analysis of variations identified by researchers around the world, databases have been set up that contain all reported MSMD patients and mutations (see for instance: www.lovd.nl/IL12RB1. Thus far, just over 400 patients have been reported worldwide with MSMD and this is probably only the tip of the iceberg. Also, other genes are still expected to be found to cause MSMD; no genes have been reported so far in which mutations specifically lead to susceptibility to tuberculosis.

  14. Gait variability and basal ganglia disorders: stride-to-stride variations of gait cycle timing in Parkinson's disease and Huntington's disease

    Science.gov (United States)

    Hausdorff, J. M.; Cudkowicz, M. E.; Firtion, R.; Wei, J. Y.; Goldberger, A. L.

    1998-01-01

    The basal ganglia are thought to play an important role in regulating motor programs involved in gait and in the fluidity and sequencing of movement. We postulated that the ability to maintain a steady gait, with low stride-to-stride variability of gait cycle timing and its subphases, would be diminished with both Parkinson's disease (PD) and Huntington's disease (HD). To test this hypothesis, we obtained quantitative measures of stride-to-stride variability of gait cycle timing in subjects with PD (n = 15), HD (n = 20), and disease-free controls (n = 16). All measures of gait variability were significantly increased in PD and HD. In subjects with PD and HD, gait variability measures were two and three times that observed in control subjects, respectively. The degree of gait variability correlated with disease severity. In contrast, gait speed was significantly lower in PD, but not in HD, and average gait cycle duration and the time spent in many subphases of the gait cycle were similar in control subjects, HD subjects, and PD subjects. These findings are consistent with a differential control of gait variability, speed, and average gait cycle timing that may have implications for understanding the role of the basal ganglia in locomotor control and for quantitatively assessing gait in clinical settings.

  15. Pulmonary malakoplakia associated with immunodeficiency by HTLV-1 and HIV

    Directory of Open Access Journals (Sweden)

    Manuela Madruga

    2014-08-01

    Full Text Available Malakoplakia is a rare chronic inflammatory disease often confused with neoplasia. In this paper we report two cases of pulmonary Malakoplakia, both with typical clinical diagnosis of tuberculosis and lung cancer. A patient with human T-lymphotropic virus type I (HTLV-1 and diagnosis of adult T-cell leukemia/lymphoma, and another patient with human immunodeficiency virus (HIV, which was treated for tuberculosis, but, after pulmonary lobectomy, was evidenced Rodococosis equi, progressed to death.

  16. 78 FR 29755 - Human Immunodeficiency Virus Patient-Focused Drug Development and Human Immunodeficiency Virus...

    Science.gov (United States)

    2013-05-21

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2013-N-0473] Human Immunodeficiency Virus Patient-Focused Drug Development and Human Immunodeficiency Virus Cure... an opportunity for public comment on human immunodeficiency virus (HIV) Patient-Focused Drug...

  17. 78 FR 46969 - Human Immunodeficiency Virus Patient-Focused Drug Development and Human Immunodeficiency Virus...

    Science.gov (United States)

    2013-08-02

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2013-N-0473] Human Immunodeficiency Virus Patient-Focused Drug Development and Human Immunodeficiency Virus Cure... for the notice of public meeting entitled ``Human Immunodeficiency Virus (HIV) Patient-Focused Drug...

  18. Feline immunodeficiency. ABCD guidelines on prevention and management.

    Science.gov (United States)

    Hosie, Margaret J; Addie, Diane; Belák, Sándor; Boucraut-Baralon, Corine; Egberink, Herman; Frymus, Tadeusz; Gruffydd-Jones, Tim; Hartmann, Katrin; Lloret, Albert; Lutz, Hans; Marsilio, Fulvio; Pennisi, Maria Grazia; Radford, Alan D; Thiry, Etienne; Truyen, Uwe; Horzinek, Marian C

    2009-07-01

    Feline immunodeficiency virus (FIV) is a retrovirus closely related to human immunodeficiency virus. Most felids are susceptible to FIV, but humans are not. Feline immunodeficiency virus is endemic in domestic cat populations worldwide. The virus loses infectivity quickly outside the host and is susceptible to all disinfectants. Feline immunodeficiency virus is transmitted via bites. The risk of transmission is low in households with socially well-adapted cats. Transmission from mother to kittens may occur, especially if the queen is undergoing an acute infection. Cats with FIV are persistently infected in spite of their ability to mount antibody and cell-mediated immune responses. Infected cats generally remain free of clinical signs for several years, and some cats never develop disease, depending on the infecting isolate. Most clinical signs are the consequence of immunodeficiency and secondary infection. Typical manifestations are chronic gingivostomatitis, chronic rhinitis, lymphadenopathy, weight loss and immune-mediated glomerulonephritis. Positive in-practice ELISA results obtained in a low-prevalence or low-risk population should always be confirmed by a laboratory. Western blot is the 'gold standard' laboratory test for FIV serology. PCR-based assays vary in performance. Cats should never be euthanased solely on the basis of an FIV-positive test result. Cats infected with FIV may live as long as uninfected cats, with appropriate management. Asymptomatic FIV-infected cats should be neutered to avoid fighting and virus transmission. Infected cats should receive regular veterinary health checks. They can be housed in the same ward as other patients, but should be kept in individual cages. At present, there is no FIV vaccine commercially available in Europe. Potential benefits and risks of vaccinating FIV-infected cats should be assessed on an individual cat basis. Needles and surgical instruments used on FIV-positive cats may transmit the virus to other cats

  19. Arthritis and Rheumatic Diseases

    Science.gov (United States)

    ... Health Topics Arthritis and Rheumatic Diseases Arthritis and Rheumatic Diseases Arthritis is often used to refer to any ... primary immunodeficiency syndrome March 11, 2013 Arthritis and Rheumatic Disease News Research Brief | January 9, 2017 Tofacitinib Shows ...

  20. Pharmacological Inhibition of Feline Immunodeficiency Virus (FIV

    Directory of Open Access Journals (Sweden)

    Dorothee Bienzle

    2012-04-01

    Full Text Available Feline immunodeficiency virus (FIV is a member of the retroviridae family of viruses and causes an acquired immunodeficiency syndrome (AIDS in domestic and non-domestic cats worldwide. Genome organization of FIV and clinical characteristics of the disease caused by the virus are similar to those of human immunodeficiency virus (HIV. Both viruses infect T lymphocytes, monocytes and macrophages, and their replication cycle in infected cells is analogous. Due to marked similarity in genomic organization, virus structure, virus replication and disease pathogenesis of FIV and HIV, infection of cats with FIV is a useful tool to study and develop novel drugs and vaccines for HIV. Anti-retroviral drugs studied extensively in HIV infection have targeted different steps of the virus replication cycle: (1 inhibition of virus entry into susceptible cells at the level of attachment to host cell surface receptors and co-receptors; (2 inhibition of fusion of the virus membrane with the cell membrane; (3 blockade of reverse transcription of viral genomic RNA; (4 interruption of nuclear translocation and viral DNA integration into host genomes; (5 prevention of viral transcript processing and nuclear export; and (6 inhibition of virion assembly and maturation. Despite much success of anti-retroviral therapy slowing disease progression in people, similar therapy has not been thoroughly investigated in cats. In this article we review current pharmacological approaches and novel targets for anti-lentiviral therapy, and critically assess potentially suitable applications against FIV infection in cats.

  1. Insights into gait disorders: walking variability using phase plot analysis, Parkinson's disease.

    Science.gov (United States)

    Esser, Patrick; Dawes, Helen; Collett, Johnny; Howells, Ken

    2013-09-01

    Gait variability may have greater utility than spatio-temporal parameters and can, be an indication for risk of falling in people with Parkinson's disease (PD). Current methods rely on prolonged data collection in order to obtain large datasets which may be demanding to obtain. We set out to explore a phase plot variability analysis to differentiate typically developed adults (TDAs) from PD obtained from two 10 m walks. Fourteen people with PD and good mobility (Rivermead Mobility Index≥8) and ten aged matched TDA were recruited and walked over 10-m at self-selected walking speed. An inertial measurement unit was placed over the projected centre of mass (CoM) sampling at 100 Hz. Vertical CoM excursion was derived to determine modelled spatiotemporal data after which the phase plot analysis was applied producing a cloud of datapoints. SDA described the spread and SDB the width of the cloud with β the angular vector of the data points. The ratio (∀) was defined as SDA: SDB. Cadence (p=.342) and stride length (p=.615) did not show a significance between TDA and PD. A difference was found for walking speed (p=.041). Furthermore a significant difference was found for β (p=.010), SDA (p=.004) other than SDB (p=.385) or ratio ∀ (p=.830). Two sequential 10-m walks showed no difference in PD for cadence (p=.193), stride length (p=.683), walking speed (p=.684) and β (p=.194), SDA (p=.051), SDB (p=.145) or ∀ (p=.226). The proposed phase plot analysis, performed on CoM motion could be used to reliably differentiate PD from TDA over a 10-m walk. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Foot-and-Mouth Disease Virus Serotype O Phylodynamics: Genetic Variability Associated with Epidemiological Factors in Pakistan

    DEFF Research Database (Denmark)

    Brito, B. P.; Perez, A. M.; Jamal, S. M.

    2013-01-01

    One of the most challenging aspects of foot-and-mouth disease (FMD) control is the high genetic variability of the FMD virus (FMDV). In endemic settings such as the Indian subcontinent, this variability has resulted in the emergence of pandemic strains that have spread widely and caused devastating...... outbreaks in disease-free areas. In countries trying to control and eradicate FMD using vaccination strategies, the constantly evolving and wide diversity of field FMDV strains is an obstacle for identifying vaccine strains that are successful in conferring protection against infection with field viruses....... Consequently, quantitative knowledge on the factors that are associated with variability of the FMDV is prerequisite for preventing and controlling FMD in the Indian subcontinent. A hierarchical linear model was used to assess the association between time, space, host species and the genetic variability...

  3. Intraindividual Variability across Neuropsychological Tests: Dispersion and Disengaged Lifestyle Increase Risk for Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    Drew W. R. Halliday

    2018-03-01

    Full Text Available Objective: Increased intraindividual variability (IIV in function has been linked to various age-related outcomes including cognitive decline and dementia. Most studies have operationalized IIV as fluctuations across trials (e.g., response latencies for a single task, with comparatively few studies examining variability across multiple tasks for a given individual. In the present study, we derive a multivariable operationalization of dispersion across a broad profile of neuropsychological measures and use this index along with degree of engaged lifestyle to predict risk of cognitive impairment. Participants and Methods: Participants (n = 60 were community-dwelling older adults aged 65+ years (M = 74.1, SD = 6.5 participating in a cross-sectional investigation of risk factors for amnestic mild cognitive impairment (a-MCI and probable Alzheimer’s Disease (AD. Participants were classified into three subgroups based on test performance and clinical judgement. Healthy controls (n = 30 scored better than −1 SD relative to existing norms on all classification measures, in the absence of memory complaints or functional impairments. The a-MCI group (n = 23 had self- or informant-reported memory complaints and scored 1 SD or more below the mean for at least one memory task while scoring better than 1 SD below the mean for all other cognitive domains, in the absence of functional impairments. The AD group (n = 7 scored at least 2 SD below the mean for two cognitive domains (including memory with impairments in functioning. Measures spanned a range of cognitive domains (episodic memory, executive function, language, with the derived dispersion estimates reflecting variability across an individual’s neuropsychological profile relative to the group average. Further, an Activities Lifestyle Questionnaire, indexing social, cognitive, and physical behaviors, was administered to assess the protective benefits of engaged lifestyle. Results: Multinomial

  4. Reduction in Heart Rate Variability with Traffic and Air Pollution in Patients with Coronary Artery Disease

    Science.gov (United States)

    Zanobetti, Antonella; Gold, Diane R.; Stone, Peter H.; Suh, Helen H.; Schwartz, Joel; Coull, Brent A.; Speizer, Frank E.

    2010-01-01

    Introduction Ambient particulate pollution and traffic have been linked to myocardial infarction and cardiac death risk. Possible mechanisms include autonomic cardiac dysfunction. Methods In a repeated-measures study of 46 patients 43–75 years of age, we investigated associations of central-site ambient particulate pollution, including black carbon (BC) (a marker for regional and local traffic), and report of traffic exposure with changes in half-hourly averaged heart rate variability (HRV), a marker of autonomic function measured by 24-hr Holter electrocardiogram monitoring. Each patient was observed up to four times within 1 year after a percutaneous intervention for myocardial infarction, acute coronary syndrome without infarction, or stable coronary artery disease (4,955 half-hour observations). For each half-hour period, diary data defined whether the patient was home or not home, or in traffic. Results A decrease in high frequency (HF; an HRV marker of vagal tone) of −16.4% [95% confidence interval (CI), −20.7 to −11.8%] was associated with an interquartile range of 0.3-μg/m3 increase in prior 5-day averaged ambient BC. Decreases in HF were independently associated both with the previous 2-hr averaged BC (−10.4%; 95% CI, −15.4 to −5.2%) and with being in traffic in the previous 2 hr (−38.5%; 95% CI, −57.4 to −11.1%). We also observed independent responses for particulate air matter with aerodynamic diameter ≤ 2.5 μm and for gases (ozone or nitrogen dioxide). Conclusion After hospitalization for coronary artery disease, both particulate pollution and being in traffic, a marker of stress and pollution, were associated with decreased HRV. PMID:20064780

  5. Coronary Artery Calcium Distribution and Interscan Measurement Variability in End-Stage Renal and Coronary Heart Disease Patients

    Energy Technology Data Exchange (ETDEWEB)

    Serafin, Z.; Laskowska, K.; Marzec, M.; Lasek, W. (Dept. of Radiology and Diagnostic Imaging, Nicolaus Copernicus Univ., Collegium Medicum, Bydgoszcz (Poland)); Sinjab, T.A.; Wlodarczyk, Z. (Dept. of Transplantology, Nicolaus Copernicus Univ., Collegium Medicum, Bydgoszcz (Poland))

    2009-04-15

    Background: Coronary heart disease patients and end-stage renal disease patients have been documented to have an increased amount of coronary artery calcifications (CAC). Purpose: To evaluate the distribution of CAC and its influence on interscan variability of measurement in end-stage renal disease and coronary heart disease patients, proven to have calcifications. Material and Methods: 69 patients having CAC, including 34 with coronary heart disease and 35 with end-stage renal disease, were scanned twice with multidetector-row computed tomography (MDCT). Amount of CAC was determined as the number of calcified lesions (CN), total calcium score (CS), calcium volume (CV), and calcium mass (CM). Distribution of CAC was evaluated on a per-patient basis as the median CS and CM of a single lesion. Density of the calcifications was calculated as the patient's CM divided by CV. Results: The overall median CS was 457.2, and the median CM was 75.6 mg. There were no significant differences in the number of calcified lesions, CS, or CM between the two groups. Both CS and CM of a single lesion, as well as the mean calcium density were lower in renal disease patients (P<0.05) than in coronary heart disease subjects. The relative interscan variability of coronary calcium measurement was higher in the renal disease group (P<0.05). There was a negative correlation between the calcium concentration and the relative interscan variability. Conclusion: The results indicate that the coronary calcium distribution influences the measurement interscan reproducibility, and the distribution may differ between end-stage renal disease patients and coronary heart disease patients, reflecting the dissimilar nature of coronary calcifications in those groups.

  6. Coronary Artery Calcium Distribution and Interscan Measurement Variability in End-Stage Renal and Coronary Heart Disease Patients

    International Nuclear Information System (INIS)

    Serafin, Z.; Laskowska, K.; Marzec, M.; Lasek, W.; Sinjab, T.A.; Wlodarczyk, Z.

    2009-01-01

    Background: Coronary heart disease patients and end-stage renal disease patients have been documented to have an increased amount of coronary artery calcifications (CAC). Purpose: To evaluate the distribution of CAC and its influence on interscan variability of measurement in end-stage renal disease and coronary heart disease patients, proven to have calcifications. Material and Methods: 69 patients having CAC, including 34 with coronary heart disease and 35 with end-stage renal disease, were scanned twice with multidetector-row computed tomography (MDCT). Amount of CAC was determined as the number of calcified lesions (CN), total calcium score (CS), calcium volume (CV), and calcium mass (CM). Distribution of CAC was evaluated on a per-patient basis as the median CS and CM of a single lesion. Density of the calcifications was calculated as the patient's CM divided by CV. Results: The overall median CS was 457.2, and the median CM was 75.6 mg. There were no significant differences in the number of calcified lesions, CS, or CM between the two groups. Both CS and CM of a single lesion, as well as the mean calcium density were lower in renal disease patients (P<0.05) than in coronary heart disease subjects. The relative interscan variability of coronary calcium measurement was higher in the renal disease group (P<0.05). There was a negative correlation between the calcium concentration and the relative interscan variability. Conclusion: The results indicate that the coronary calcium distribution influences the measurement interscan reproducibility, and the distribution may differ between end-stage renal disease patients and coronary heart disease patients, reflecting the dissimilar nature of coronary calcifications in those groups

  7. Identification of genetic defects in primary immunodeficiencies by whole exome sequencing

    DEFF Research Database (Denmark)

    Christiansen, Mette; Jensen, Jens Magnus Bernth; Veirum, Jens Erik

    2014-01-01

    to hypogammaglobulinaemia, and increased risk of both infections as well as cancer. We employed whole exome sequencing (WES) to identify mutations associated with primary immunodeficiency in severely affected children. We present WES data on 2 patients with severe immunodeficiency. WES was performed using TruSeq exome kit...... and severe infections including sepsis. Second, we identified compound heterozygote stopgain mutations in RAD52 and a heterozygote mutation in LRRC8A in a 7 year-old girl with T-cell deficiency, reduced T-cell mediated B-cell activity, hypogammaglobulinaemia, prolonged splenomegali and benign adenopathy. RAD......52 has not previously been linked to immunodeficiency and we are currently investigating the functional consequences. Knowledge of the mechanisms underlying immunodeficiencies is a prerequisite for understanding disease pathogenesis. WES allows the demonstration of immune defects that may result from...

  8. Variability of yield traits and disease resistance in winter triticale genetic resources accessions

    Directory of Open Access Journals (Sweden)

    Wanda Kociuba

    2014-07-01

    Full Text Available A systematic gathering of winter triticale accessions was started in Poland in 1982 by the Institute of Genetics, Breeding and Seed Science at the Agricultural University in Lublin (at present its name is: Institute of Genetics, Breeding and Plant Biotechnology at the University of Life Sciences in Lublin. First, breeding lines obtained in local breeding stations were gathered. Next, accessions were imported from the following world gene banks: Beltsville, Gatersleben, and VIR. Interesting hybrid materials obtained in research centers were also included in the collection. Now, the collection includes 2349 accessions (1329 of winter triticale and 1020 of spring triticale. The evaluation is conducted in a 4-year cycle of field experiments using the same methods. The gathered accessions represent a large range of variability of both morphological and commercial traits. The large differentiation of accessions especially concerns traits such as: plant height, number and weight of grains per spi- ke, protein content in grain, field resistance to powdery mildew, brown rust and leaf and spike diseases.

  9. Intraindividual variability across cognitive tasks as a potential marker for prodromal Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Andrea Maria Kälin

    2014-07-01

    Full Text Available Recent studies have shown that increased cognitive intraindividual variability (IIV across accuracy scores from tests representing different cognitive domains (across-domain IIV might indicate prodromal Alzheimer’s disease (AD. Although IIV has been proposed to index cognitive control processes, IIV across accuracy scores from cognitive control tasks (within-domain IIV has not been examined in healthy controls subjects (HCS, mild cognitive impairment (MCI and AD patients in a single comparative study. This study examines the discriminative properties of within-domain IIV, and across-domain IIV in 149 HCS, 31 MCI and 26 AD. Three tasks representing different cognitive domains were identified to calculate across-domain IIV. Three other tasks representing cognitive control were identified to calculate within-domain IIV. The intraindividual standard deviation (ISD was calculated across accuracy scores. To compare IIV between groups, ANCOVAs with the covariates age, gender, education, and mean performance were computed. IIV scores in general were higher in AD vs. HCS (p< 0.01. Only across-domain IIV was higher in AD vs. MCI (p=0.001, and only within-domain IIV was higher in MCI vs. HCS (p=0.05. Within-domain IIV may constitute a cognitive marker for the detection of prodromal AD at the MCI stage, whereas across-domain IIV may detect beginning AD at the MCI stage.

  10. School burnout and heart rate variability: risk of cardiovascular disease and hypertension in young adult females.

    Science.gov (United States)

    May, Ross W; Seibert, Gregory S; Sanchez-Gonzalez, Marcos A; Fincham, Frank D

    2018-05-01

    Emerging research documents the relationship between school burnout and some indicators of increased cardiovascular risk. Indicators of cardiovascular functioning assessed via ambulatory blood pressure and heart rate variability (HRV) have not been thoroughly explored in this research domain. Therefore, the current study examined relationships between school burnout and indicators of cardiac functioning via 24 h ambulatory blood pressure (BP) and electrocardiogram monitoring in a sample of young adult female undergraduates (N = 88). Two hypotheses were tested: (1) that independent of related negative affective symptomology (depression and anxiety), increased school burnout would be related to greater systolic and diastolic BP, higher low frequency (LF) HRV and lower very low frequency (VLF) HRV, and (2) that lower VLF would be related to greater school burnout independently of LF HRV. Hierarchical multiple regression analyzes showed that school burnout was significantly related to elevated ambulatory BP (systolic and diastolic) and HRV markers of increased cardiac sympathovagal tone. These findings support the hypotheses and suggest that school burnout might be implicated in the development of pre-hypertension or early cardiovascular disease. Study limitations and the need for future longitudinal research are discussed.

  11. Fractal correlation property of heart rate variability in chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Tatiana D Carvalho

    2011-01-01

    Full Text Available Tatiana D Carvalho1,2, Carlos Marcelo Pastre1, Moacir Fernandes de Godoy3, Celso Fereira2, Fábio O Pitta1,4, Luiz Carlos de Abreu5, Ercy Mara Cipulo Ramos1, Vitor E Valenti2,5, Luiz Carlos Marques Vanderlei11Departamento de Fisioterapia da Faculdade de Ciências e Tecnologia, Universidade Estadual Paulista, Presidente Prudente, São Paulo, Brasil; 2Departamento de Medicina, Disciplina de Cardiologia, Universidade Federal de São Paulo, São Paulo, Brasil; 3Departamento de Cardiologia e Cirurgia Cardiovascular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, São Paulo, Brasil; 4Laboratório de Pesquisa em Fisioterapia Pulmonar, Departamento de Fisioterapia, Universidade Estadual de Londrina, Londrina, Brasil; 5Departamento de Morfologia e Fisiologia da Faculdade de Medicina do ABC, Santo André, BrasilBackground: It was reported that autonomic nervous system function is altered in subjects with chronic obstructive pulmonary disease (COPD. We evaluated short- and long-term fractal exponents of heart rate variability (HRV in COPD subjects.Patients and methods: We analyzed data from 30 volunteers, who were divided into two groups according to spirometric values: COPD (n = 15 and control (n = 15. For analysis of HRV indices, HRV was recorded beat by beat with the volunteers in the supine position for 30 minutes. We analyzed the linear indices in the time (SDNN [standard deviation of normal to normal] and RMSSD [root-mean square of differences] and frequency domains (low frequency [LF], high frequency [HF], and LF/HF, and the short- and long-term fractal exponents were obtained by detrended fluctuation analysis. We considered P < 0.05 to be a significant difference.Results: COPD patients presented reduced levels of all linear exponents and decreased short-term fractal exponent (alpha-1: 0.899 ± 0.18 versus 1.025 ± 0.09, P = 0.026. There was no significant difference between COPD and control groups in alpha-2 and alpha-1

  12. Advances of gene therapy for primary immunodeficiencies [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Fabio Candotti

    2016-03-01

    Full Text Available In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease, and Wiskott-Aldrich syndrome. While such progress has widened the choice of therapeutic options in some specific cases of primary immunodeficiency, much remains to be done to extend the geographical availability of such an advanced approach and to increase the number of diseases that can be targeted. At the same time, emerging technologies are stimulating intensive investigations that may lead to the application of precise genetic editing as the next form of gene therapy for these and other human genetic diseases.

  13. A literature review on cardiovascular risk in human immunodeficiency virus-infected patients: implications for clinical management

    Directory of Open Access Journals (Sweden)

    Mansueto Gomes Neto

    Full Text Available INTRODUCTION: In recent years, there has been growing concern about an increasing rate of cardiovascular diseases in human immunodeficiency virus-infected patients, which could be associated with side effects of highly active antiretroviral therapy. It is likely that the metabolic disorders related to anti-human immunodeficiency virus treatment will eventually translate into a increased cardiovascular risk in patients submitted to such regimens. OBJECTIVE: To evaluate if human immunodeficiency virus-infected patients receiving highly active antiretroviral therapy are at higher risk of cardiovascular diseases than human immunodeficiency virus infected patients not receiving highly active antiretroviral therapy, or the general population. RESEARCH DESIGN AND METHODS: We conducted a computer-based search in representative databases, and also performed manual tracking of citations in selected articles. RESULT: The available evidence suggests an excess risk of cardiovascular events in human immunodeficiency virus-infected persons compared to non-human immunodeficiency virus infected individuals. The use of highly active antiretroviral therapy is associated with increased levels of total cholesterol, triglycerides, low-density lipoprotein and morphological signs of cardiovascular diseases. Some evidence suggested that human immunodeficiency virus-infected individuals on highly active antiretroviral therapy regimens are at increased risk of dyslipidemia, ischemic heart disease, and myocardial infarction, particularly if the highly active antiretroviral therapy regimen contains a protease inhibitor. CONCLUSION: Physicians must weigh the cardiovascular risk against potential benefits when prescribing highly active antiretroviral therapy. Careful cardiac screening is warranted for patients who are being evaluated for, or who are receiving highly active antiretroviral therapy regimens, particularly for those with known underlying cardiovascular risk

  14. T cell-B cell interactions in primary immunodeficiencies.

    Science.gov (United States)

    Tangye, Stuart G; Deenick, Elissa K; Palendira, Umaimainthan; Ma, Cindy S

    2012-02-01

    Regulated interactions between cells of the immune system facilitate the generation of successful immune responses, thereby enabling efficient neutralization and clearance of pathogens and the establishment of both cell- and humoral-mediated immunological memory. The corollary of this is that impediments to efficient cell-cell interactions, normally necessary for differentiation and effector functions of immune cells, underly the clinical features and disease pathogenesis of primary immunodeficiencies. In affected individuals, these defects manifest as impaired long-term humoral immunity and susceptibility to infection by specific pathogens. In this review, we discuss the importance of, and requirements for, effective interactions between B cells and T cells during the formation of CD4(+) T follicular helper cells and the elicitation of cytotoxic function of virus-specific CD8(+) T cells, as well as how these processes are abrogated in primary immunodeficiencies due to loss-of-function mutations in defined genes. © 2012 New York Academy of Sciences.

  15. Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    Science.gov (United States)

    Saito, Shinta; Kurosawa, Aya; Adachi, Noritaka

    2016-08-01

    In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause severe combined immunodeficiency. Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. Here, we describe the various XRCC4 mutations that lead to disease and discuss their impact on NHEJ and V(D)J recombination.

  16. Improvements in Key Cardiopulmonary Exercise Testing Variables Following Cardiac Rehabilitation in Patients With Coronary Artery Disease.

    Science.gov (United States)

    Popovic, Dejana; Kumar, Nikhil; Chaudhry, Sundeep; Bagai, Akshay; Arena, Ross; Kumar, Naresh

    2018-05-11

    Improvements in cardiorespiratory fitness (VO2peak) post-cardiac rehabilitation (post-CR) are used to gauge therapeutic efficacy. The aim of the present study was to assess the effect of supervised CR on other cardiopulmonary exercise testing (CPX) variables, specifically those that reflect ventilatory efficiency and VO2 changes in relation to changes in work rate (WR). Patients (n = 142; mean age 63 ± 9 y; 23% female) with coronary artery disease (CAD) participated in supervised CR for 3 to 6 mo completing 60 ± 17 sessions (range: 32-96 sessions), with intensity derived from the baseline CPX. CPX was completed at baseline and post-CR on a cycle ergometer. The minimum heart rate (HR) during cycling was set 5 to 10 beats/min above the HR at ventilatory anaerobic threshold (VAT) while the maximum HR remained below the ischemic threshold observed during CPX, and this intensity was maintained for 25 min. VO2peak, peak O2 pulse, the minute ventilation/carbon dioxide production (VE/VCO2) slope, the oxygen uptake efficiency slope (OUES), and the ΔVO2/ΔWR slope were determined at baseline and post-CR. Following CR, there were significant improvements (all P < .001) in VO2peak (17.7 ± 4.7 mL/kg/min vs 20.9 ± 5.4 mL/kg/min), peak O2 pulse (11.6 ± 3.2 mL/beat vs 13.4 ± 3.6 mL/beat), VE/VCO2 slope (28.4 ± 5.3 vs 27.5 ± 4.7), OUES (1.8 ± 0.5 vs 2.0 ± 0.6), and ΔVO2/ΔWR slope (9.1 ± 1.2 mL/min/W vs 9.6 ± 1.1 mL/min/W). Key markers of ventilatory efficiency and VO2 kinetics during CPX significantly improve following CR. Expanding the list of variables assessed via CPX may provide better resolution in validation of CR therapeutic efficacy in patients with CAD.

  17. Both Reaction Time and Accuracy Measures of Intraindividual Variability Predict Cognitive Performance in Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Björn U. Christ

    2018-04-01

    Full Text Available Dementia researchers around the world prioritize the urgent need for sensitive measurement tools that can detect cognitive and functional change at the earliest stages of Alzheimer's disease (AD. Sensitive indicators of underlying neural pathology assist in the early detection of cognitive change and are thus important for the evaluation of early-intervention clinical trials. One method that may be particularly well-suited to help achieve this goal involves the quantification of intraindividual variability (IIV in cognitive performance. The current study aimed to directly compare two methods of estimating IIV (fluctuations in accuracy-based scores vs. those in latency-based scores to predict cognitive performance in AD. Specifically, we directly compared the relative sensitivity of reaction time (RT—and accuracy-based estimates of IIV to cognitive compromise. The novelty of the present study, however, centered on the patients we tested [a group of patients with Alzheimer's disease (AD] and the outcome measures we used (a measure of general cognitive function and a measure of episodic memory function. Hence, we compared intraindividual standard deviations (iSDs from two RT tasks and three accuracy-based memory tasks in patients with possible or probable Alzheimer's dementia (n = 23 and matched healthy controls (n = 25. The main analyses modeled the relative contributions of RT vs. accuracy-based measures of IIV toward the prediction of performance on measures of (a overall cognitive functioning, and (b episodic memory functioning. Results indicated that RT-based IIV measures are superior predictors of neurocognitive impairment (as indexed by overall cognitive and memory performance than accuracy-based IIV measures, even after adjusting for the timescale of measurement. However, one accuracy-based IIV measure (derived from a recognition memory test also differentiated patients with AD from controls, and significantly predicted episodic memory

  18. Symptoms of Depression and Anxiety in Adolescents with Sickle Cell Disease: The Role of Intrapersonal Characteristics and Stress Processing Variables

    Science.gov (United States)

    Simon, Katherine; Barakat, Lamia P.; Patterson, Chavis A.; Dampier, Carlton

    2009-01-01

    Sickle cell disease (SCD) complications place patients at risk for poor psychosocial adaptation, including depression and anxiety symptoms. This study aimed to test a mediator model based on the Risk and Resistance model to explore the role of intrapersonal characteristics and stress processing variables in psychosocial functioning. Participants…

  19. Heart Rate Variability in Patients with Chronic Obstructive Pulmonary Disease Treated by Noninvasive Mechanic Ventilation

    Directory of Open Access Journals (Sweden)

    Zekeriya Küçükdurmaz

    2011-08-01

    Full Text Available Aims: This study aimed to investigate heart rate variability (HRV of patients with severe COPD who are treated by noninvasive mechanic ventilation (NIMV.Patients and Method: Twenty-seven patient (58±8 years, 9 F with severe COPD treated by nocturnal NIMV at home and 23 sex and age matched volunteers (56±8 years, 11 F who has not dyspnea as a control group recruited in the study. Subjects underwent spirometry, blood gas analysis, transthoracic echocardiography, 24 hours ambulatory ECG analysis. Time domain HRV analysis performed from ambulatory ECG records. Results: 52% of patients at NYHA functional class II, 36% at class III, and 12% at class IV when they have been treated by NIMV. Groups were similar for age and sex (p>0.05 for both. Heart rates of patients were higher significantly than controls’ (p0.05. But, systolic pulmonary pressures were higher of COPD group (p<0.01. 24 hours heart rate was higher, and standard deviation of normal R-R intervals (SDNN 24 hours, SDNN night, SDNN day, SDNN index (SDNNI and standard deviation of mean R-R intervals (SDANNI values were lower in COPD group significantly. SDNN was inversely correlated with duration of daily NIMV usage, intensive care unit administration and entubation rate and PaCO2. SDNNI was inversely correlated with functional class, duration of daily NIMV usage, intensive care unit administration rate and PaCO2. Else, SDNNI was correlated with predicted forced vital capacity % (FVC% and predicted forced expiratory volume at 1 second % (FEV1%.Conclusion: Time domain HRV decreases in patients with severe COPD. Decrease is correlated with severity of disease, and it presents in despite of the chronic nocturnal NIMV application. These patients have high risk for cardiovascular morbidity and mortality and should be monitored and manegement for cardiovascular events.

  20. Effects of Exercise Training on Heart Rate Variability in Chagas Heart Disease

    Directory of Open Access Journals (Sweden)

    Bruno Ramos Nascimento

    2014-09-01

    Full Text Available Background: Heart rate variability (HRV is a marker of autonomic dysfunction severity. The effects of physical training on HRV indexes in Chagas heart disease (CHD are not well established. Objective: To evaluate the changes in HRV indexes in response to physical training in CHD. Methods: Patients with CHD and left ventricular (LV dysfunction, physically inactive, were randomized either to the intervention (IG, N = 18 or control group (CG, N = 19. The IG participated in a 12-week exercise program consisting of 3 sessions/week. Results: Mean age was 49.5 ± 8 years, 59% males, mean LVEF was 36.3 ± 7.8%. Baseline HRV indexes were similar between groups. From baseline to follow-up, total power (TP: 1653 (IQ 625 - 3418 to 2794 (1617 - 4452 ms, p = 0.02 and very low frequency power: 586 (290 - 1565 to 815 (610 - 1425 ms, p = 0.047 increased in the IG, but not in the CG. The delta (post - pre HRV indexes were similar: SDNN 11.5 ± 30.0 vs. 3.7 ± 25.1 ms. p = 0.10; rMSSD 2 (6 - 17 vs. 1 (21 - 9 ms. p = 0.43; TP 943 (731 - 3130 vs. 1780 (921 - 2743 Hz. p = 0.46; low frequency power (LFP 1.0 (150 - 197 vs. 60 (111 - 146 Hz. p = 0.85; except for high frequency power, which tended to increase in the IG: 42 (133 - 92 vs. 79 (61 - 328 Hz. p = 0.08. Conclusion: In the studied population, the variation of HRV indexes was similar between the active and inactive groups. Clinical improvement with physical activity seems to be independent from autonomic dysfunction markers in CHD.

  1. T-cell receptor variable genes and genetic susceptibility to celiac disease: an association and linkage study.

    Science.gov (United States)

    Roschmann, E; Wienker, T F; Gerok, W; Volk, B A

    1993-12-01

    Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition. Therefore, the aim of this study was to examine whether T-cell receptor (TCR) genes may be susceptibility genes in celiac disease. HLA class II typing was performed by polymerase chain reaction amplification in combination with sequence-specific oligonucleotide hybridization. TCR alpha (TCRA), TCR gamma (TCRG), and TCR beta (TCRB) loci were investigated by restriction fragment length polymorphism analysis. Allelic frequencies of TCRA, TCRG, and TCRB variable genes were compared between patients with celiac disease (n = 53) and control patients (n = 67), and relative risk (RR) estimates were calculated. The RR was 1.67 for allele C1 at TCRA1, 3.35 for allele D2 at TCRA2, 1.66 for allele B2 at TCRG, and 1.35 for allele B at TCRB, showing no significant association. Additionally, linkage analysis was performed in 23 families. The logarithm of odd scores for celiac disease vs. the TCR variable genes at TCRA, TCRG, and TCRB showed no significant linkage. These data suggest that the analyzed TCR variable gene segments V alpha 1.2, V gamma 11, and V beta 8 do not play a major role in susceptibility to celiac disease.

  2. Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: From severe combined immunodeficiency to common variable immunodeficiency

    NARCIS (Netherlands)

    H. IJspeert (Hanna); M. Wentink (Marjolein); D. van Zessen (David); G.J.A. Driessen (Gertjan); V.A.S.H. Dalm (Virgil); M.P. van Hagen (Martin); I. Pico-Knijnenburg (Ingrid); E.J. Simons (Erik J.); J.J.M. van Dongen (Jacques); A. Stubbs (Andrew); M. van der Burg (Mirjam)

    2015-01-01

    textabstractThe antigen receptor repertoires of B- and T-cells form the basis of the adaptive immune response. The repertoires should be sufficiently diverse to recognize all possible pathogens. However, careful selection is needed to prevent responses to self or harmless antigens. Limited antigen

  3. Serial MR evaluations of human immunodeficiency virus-positive homosexual men

    International Nuclear Information System (INIS)

    Cohen, W.A.; Maravilla, K.R.; Gerlach, R.; Claypool, K.; Coombs, R.; Collier, A.

    1989-01-01

    This paper presents an evaluation of the progression of neurologic and neuropsy chological dysfunction in human immunodeficiency virus (HIV) positive homosexual men in order to define the natural history of this disease. Markers predictive of disease progression are discussed. Experimental methods and materials are included and results are assessed

  4. Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

    Directory of Open Access Journals (Sweden)

    Antoccia Antonio

    2010-04-01

    Full Text Available Abstract Ataxia-telangiectasia (A-T is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children. We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T. A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.

  5. Heart rate, heart rate variability, and arrhythmias in dogs with myxomatous mitral valve disease

    DEFF Research Database (Denmark)

    Rasmussen, Caroline Elisabeth; Falk, Bo Torkel; Zois, Nora Elisabeth

    2012-01-01

    Autonomic modulation of heart rhythm is thought to influence the pathophysiology of myxomatous mitral valve disease (MMVD).......Autonomic modulation of heart rhythm is thought to influence the pathophysiology of myxomatous mitral valve disease (MMVD)....

  6. Reproducibility and variability of quantitative magnetic resonance imaging markers in cerebral small vessel disease

    NARCIS (Netherlands)

    Guio, F. De; Jouvent, E.; Biessels, G.J.; Black, S.E.; Brayne, C.; Chen, C.; Cordonnier, C.; Leeuw, F.E. de; Dichgans, M.; Doubal, F.; Duering, M.; Dufouil, C.; Duzel, E.; Fazekas, F.; Hachinski, V.; Ikram, M.A.; Linn, J.; Matthews, P.M.; Mazoyer, B.; Mok, V.; Norrving, B.; O'Brien, J.T.; Pantoni, L.; Ropele, S.; Sachdev, P.; Schmidt, R.; Seshadri, S.; Smith, E.E.; Sposato, L.A.; Stephan, B.; Swartz, R.H.; Tzourio, C.; Buchem, M. van; Lugt, A. van der; Oostenbrugge, R.; Vernooij, M.W.; Viswanathan, A.; Werring, D.; Wollenweber, F.; Wardlaw, J.M.; Chabriat, H.

    2016-01-01

    Brain imaging is essential for the diagnosis and characterization of cerebral small vessel disease. Several magnetic resonance imaging markers have therefore emerged, providing new information on the diagnosis, progression, and mechanisms of small vessel disease. Yet, the reproducibility of these

  7. Reproducibility and variability of quantitative magnetic resonance imaging markers in cerebral small vessel disease

    NARCIS (Netherlands)

    De Guio, F. (François); Jouvent, E. (Eric); G.J. Biessels (Geert Jan); S.E. Black (Sandra); C. Brayne (Carol); C. Chen (Christopher); C. Cordonnier (Charlotte); H.F. de Leeuw (Frank); C. Kubisch (Christian); Doubal, F. (Fergus); Duering, M. (Marco); C. Dufouil (Carole); Duzel, E. (Emrah); F. Fazekas (Franz); V. Hachinski (Vladimir); M.K. Ikram (Kamran); J. Linn (Jennifer); P.M. Matthews (P.); B. Mazoyer (Bernard); Mok, V. (Vincent); B. Norrving (Bo); O'Brien, J.T. (John T.); Pantoni, L. (Leonardo); S. Ropele (Stefan); P.S. Sachdev (Perminder); R. Schmidt (Reinhold); S. Seshadri (Sudha); E.E. Smith (Eric); L.A. Sposato (Luciano A); B.C.M. Stephan; Swartz, R.H. (Richard H.); C. Tzourio (Christophe); M.A. van Buchem (Mark); A. van der Lugt (Aad); R.J. van Oostenbrugge (Robert); M.W. Vernooij (Meike); Viswanathan, A. (Anand); D.J. Werring (David); Wollenweber, F. (Frank); J.M. Wardlaw (J.); Chabriat, H. (Hugues)

    2016-01-01

    textabstractBrain imaging is essential for the diagnosis and characterization of cerebral small vessel disease. Several magnetic resonance imaging markers have therefore emerged, providing new information on the diagnosis, progression, and mechanisms of small vessel disease. Yet, the reproducibility

  8. PRIMARY IMMUNODEFICIENCY: STATUS OF A PROBLEM TODAY. RUSSIAN NETWORK OF JMF-CENTERS

    Directory of Open Access Journals (Sweden)

    E. A. Latysheva

    2013-01-01

    Full Text Available The problems of primary immunodeficiency in Russia and the ways of solving of them are discussed in the article. Primary immunodeficiency is a group of rare diseases, so awareness of this pathology in the medical community and among patients is very low. This leads to late diagnosis and inadequate treatment of patients with such conditions. The result of the late beginning of treatment is early development of disability, and the high mortality rate of patients, as well as the high costs of the treatment of complications of primary immunodeficiency and sick-leave certificates for the government. Today in time and adequate therapy allows patients not only to reach adulthood without signs of disability, and to lead an active way of life, but to have healthy children. Given the high cost of therapy in many countries, the issue of providing patients with life-saving drugs remains unresolved. The global practice is to involve social organizations and funds. One of the foundations supporting educational programs, development of laboratories and research in the field of primary immunodeficiency is the Foundation of the Jeffrey Modell. A network of centres for primary immunodeficiency supported by the Jeffrey Modell Foundation (JMF-centers has started its functioning over the territory of the Russian Federation since 2011 in order to improve diagnostics and treatment of patients with primary immunodeficiency. A brief description of activity of these centers is presented in the article.

  9. The Glycosylphosphatidylinositol-Anchored Variable Region of Llama Heavy Chain-Only Antibody JM4 Efficiently Blocks both Cell-Free and T Cell-T Cell Transmission of Human Immunodeficiency Virus Type 1.

    Science.gov (United States)

    Liu, Lihong; Wang, Weiming; Matz, Julie; Ye, Chaobaihui; Bracq, Lucie; Delon, Jerome; Kimata, Jason T; Chen, Zhiwei; Benichou, Serge; Zhou, Paul

    2016-12-01

    The variable regions (VHHs) of two heavy chain-only antibodies, JM2 and JM4, from llamas that have been immunized with a trimeric gp140 bound to a CD4 mimic have been recently isolated (here referred to as VHH JM2 and VHH JM4, respectively). JM2 binds the CD4-binding site of gp120 and neutralizes HIV-1 strains from subtypes B, C, and G. JM4 binds gp120 and neutralizes HIV-1 strains from subtypes A, B, C, A/E, and G in a CD4-dependent manner. In the present study, we constructed glycosylphosphatidylinositol (GPI)-anchored VHH JM2 and JM4 along with an E4 control and transduced them into human CD4 + cell lines and primary CD4 T cells. We report that by genetically linking the VHHs with a GPI attachment signal, VHHs are targeted to the lipid rafts of the plasma membranes. Expression of GPI-VHH JM4, but not GPI-VHH E4 and JM2, on the surface of transduced TZM.bl cells potently neutralizes multiple subtypes of HIV-1 isolates, including tier 2 or 3 strains, transmitted founders, quasispecies, and soluble single domain antibody (sdAb) JM4-resistant viruses. Moreover, transduction of CEMss-CCR5 cells with GPI-VHH JM4, but not with GPI-VHH E4, confers resistance to both cell-free and T cell-T cell transmission of HIV-1 and HIV-1 envelope-mediated fusion. Finally, GPI-VHH JM4-transduced human primary CD4 T cells efficiently resist both cell-free and T cell-T cell transmission of HIV-1. Thus, we conclude that VHH JM4, when targeted to the lipid rafts of the plasma membrane, efficiently neutralizes HIV-1 infection via both cell-free and T cell-T cell transmission. Our findings should have important implications for GPI-anchored antibody-based therapy against HIV-1. Lipid rafts are specialized dynamic microdomains of the plasma membrane and have been shown to be gateways for HIV-1 budding as well as entry into T cells and macrophages. In nature, many glycosylphosphatidylinositol (GPI)-anchored proteins localize in the lipid rafts. In the present study, we developed GPI

  10. Cancer as secondary immunodeficiency. Review

    Directory of Open Access Journals (Sweden)

    María Eugenia Vargas-Camaño

    2016-05-01

    Full Text Available The secondary immunodeficiency’s, previously presented in immunocompetent individuals. The lack of primary or secondary response to the presence of a foreign antigen, in the case of infections is a sentinel data in the diagnosis of immunodeficiency (can be primary or secondary, in the case of a self antigen may generate the presence of Cancer. Cancer has shown an increase in the prevalence and incidence globally. Most current medical treatments in cancer are focused primarily on immunomodulatory actions (immunosuppression / immune stimulation or both. Knowledge of key concepts from the perspective of innate and acquired immunity lead to cancer development, engaging immune surveillance and escape mechanisms of this that contribute to better understand the origin, behavior and treatment of neoplasm’s. These treatments can cause immunological disorders such as allergy, anaphylaxis, lack of response immunogenicity care fields specialist in Allergy and Clinical Immunology.

  11. Variables in full-body ultraviolet B treatment of skin diseases

    DEFF Research Database (Denmark)

    Wulf, Hans Christian; Heydenreich, Jakob; Philipsen, Peter A

    2010-01-01

    Ultraviolet B (UVB) treatment is most often performed according to a fixed schedule, not necessarily considering important variables such as UV intensity, type of UVB source and skin pigmentation. These variables can rather easily be taken into consideration by the right choice of dosing unit...... burning....

  12. Variables predicting elevated portal pressure in alcoholic liver disease. Results of a multivariate analysis

    DEFF Research Database (Denmark)

    Krogsgaard, K; Christensen, E; Gluud, C

    1987-01-01

    In 46 alcoholic patients the association of wedged-to-free hepatic-vein pressure with other variables (clinical, histologic, hemodynamic, and liver function data) was studied by means of multiple regression analysis, taking the wedged-to-free hepatic-vein pressure as the dependent variable. Four ...

  13. Global Association of Air Pollution and Cardiorespiratory Diseases: A Systematic Review, Meta-Analysis, and Investigation of Modifier Variables

    Science.gov (United States)

    Adams, Matthew D.; Arain, Altaf; Papatheodorou, Stefania; Koutrakis, Petros; Mahmoud, Moataz

    2018-01-01

    Background. Little is known about the health risks of air pollution and cardiorespiratory diseases, globally, across regions and populations, which may differ because of external factors. Objectives. We systematically reviewed the evidence on the association between air pollution and cardiorespiratory diseases (hospital admissions and mortality), including variability by energy, transportation, socioeconomic status, and air quality. Search Methods. We conducted a literature search (PubMed and Web of Science) for studies published between 2006 and May 11, 2016. Selection Criteria. We included studies if they met all of the following criteria: (1) considered at least 1 of these air pollutants: carbon monoxide, sulfur dioxide, nitrogen dioxide, ozone, or particulate matter (PM2.5 or PM10); (2) reported risk for hospital admissions, mortality, or both; (3) presented individual results for respiratory diseases, cardiovascular diseases, or both; (4) considered the age groups younger than 5 years, older than 65 years, or all ages; and (5) did not segregate the analysis by gender. Data Collection and Analysis. We extracted data from each study, including location, health outcome, and risk estimates. We performed a meta-analysis to estimate the overall effect and to account for both within- and between-study heterogeneity. Then, we applied a model selection (least absolute shrinkage and selection operator) to assess the modifier variables, and, lastly, we performed meta-regression analyses to evaluate the modifier variables contributing to heterogeneity among studies. Main Results. We assessed 2183 studies, of which we selected 529 for in-depth review, and 70 articles fulfilled our study inclusion criteria. The 70 studies selected for meta-analysis encompass more than 30 million events across 28 countries. We found positive associations between cardiorespiratory diseases and different air pollutants. For example, when we considered only the association between PM2.5 and

  14. Variability in Zucker diabetic fatty rats: differences in disease progression in hyperglycemic and normoglycemic animals

    Directory of Open Access Journals (Sweden)

    Wang X

    2014-11-01

    Full Text Available Xi Wang,1 Debra C DuBois,1,2 Siddharth Sukumaran,2 Vivaswath Ayyar,1 William J Jusko,2,3 Richard R Almon1–3 1Department of Biological Sciences, 2Department of Pharmaceutical Sciences, State University of New York at Buffalo, Buffalo, NY, USA; 3New York State Center of Excellence in Bioinformatics and Life Sciences, Buffalo, NY, USA Abstract: Both obesity and chronic inflammation are often associated with insulin resistance and type 2 diabetes. The Zucker diabetic fatty (ZDF rat (fa/fa is an obese animal model frequently used in type 2 diabetes research. The current study determines whether chronic administration (from 5 weeks of age through 24 weeks of age of salsalate, a salicylate with anti-inflammatory properties, would be effective in mitigating diabetes disease progression in ZDF rats. Although a trend existed for lower blood glucose in the salsalate-treated group, significant differences were obscured by high animal-level variability. However, even in the non-drug-treated group, not all ZDF rats became diabetic as expected. Therefore, animals were parsed into two groups, regardless of drug treatment: normoglycemic ZDF rats, which maintained blood glucose profiles identical to nondiabetic Zucker lean rats (ZLRs, and hyperglycemic ZDF rats, which exhibited progressive elevation in blood glucose. To ascertain the differences between ZDF rats that became hyperglycemic and those that did not, relevant physiological indices and expression levels of adiponectin, tumor necrosis factor-α, interleukin-6, and glucocorticoid-induced leucine zipper messenger RNAs in adipose tissue were measured at sacrifice. Plasma C-reactive protein concentrations and expression levels of cytokine and glucocorticoid-induced leucine zipper messenger RNAs suggested more prevalent chronic inflammation in hyperglycemic animals. Early elevation of the insulin-sensitizing adipokine, adiponectin, was present in both ZDF groups, with the rate of its age-related decline

  15. Variability of the fractal dimension of the left coronary tree in-patient with disease arterial severe occlusive

    International Nuclear Information System (INIS)

    Rodriguez, Javier; Alvarez, Luisa F; Marino, Martha E and others

    2004-01-01

    Fractal geometry is a chapter of mathematics that allows the measurement of irregularity in natural objects. The adequate measures in order to characterize the forms of the human body are the fractal dimensions. Coronary ramification is a fractal object, which enables the diagnosis of occlusive arterial disease by the measurement of an arterial segment obtained by coronary angiography, without measuring the impact of the obstruction in the whole ramification. Fractal dimension evaluates the irregularity of the whole coronary ramification. The right anterior oblique projection (RAO) of the left coronary ramifications (LCR) obtained through arteriography is evaluated with fractal dimensions, using the box counting method. Images of the ramification between systole and diastole were measured in 14 patients, 7 of them without occlusive arterial disease, group 1, and 7 with severe occlusive arterial disease, group 2. Patients without occlusive arterial disease showed a greater variability in the fractal dimensions sequence evaluated with the net difference, being in general this difference other than zero

  16. Radiological pulmonary manifestations of acquired immunodeficiency syndrome; Manifestacoes radiologicas pulmonares da sindrome da imunodeficiencia adquirida

    Energy Technology Data Exchange (ETDEWEB)

    Marchiori, Edson; Melo, Alessandro Severo Alves de; Ossa, Alfonso Jaramillo [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1999-06-01

    In this article are reviewed the principal radiologic manifestations of inflammatory and tumoral diseases the compromise the lungs of patients with acquired immunodeficiency syndrome. In the group of inflammatory diseases the radiologic aspects of pneumocystosis, cytomegalovirus disease, cryptococcosis, tuberculosis and bacterial pneumonias are emphasized. In the neoplasic diseases' group the aspects of lymphoma and Kaposi's sarcoma are specially presented. (author)

  17. Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease.

    Science.gov (United States)

    Gameiro, Ana; Gouveia, Miguel; Cardoso, José Carlos; Tellechea, Oscar

    2016-01-01

    Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.

  18. Gastric and Peritoneal Involvement of Human Herpes Virus 8 Related Kaposi Sarcoma in a Patient with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Nuno Ribeiro Ferreira

    2015-09-01

    Full Text Available Kaposi's sarcoma (KS is one of the most frequent neoplastic diseases in patients infected with human immunodeficiency virus (HIV. The authors report the case of a 40-year-old male with ascites, peripheral edema and peritoneal carcinomatosis secondary to a gastric KS related to human herpes virus type 8 (HHV-8. The patient had severe immunodeficiency, with a TCD4+ count of 86 cells/µl and newly diagnosed acquired immunodeficiency syndrome. His clinical condition rapidly deteriorated, with multiorgan failure, and he died without the possibility of initiating antiretroviral therapy or chemotherapy. To the authors’ knowledge, carcinomatosis is a rare feature in KS.

  19. Human Immunodeficiency Virus Infection in Pregnancy

    Directory of Open Access Journals (Sweden)

    Yasemin Arikan

    1998-01-01

    Full Text Available The incidence and prevalence of human immunodeficiency virus (HIV infection in women of child-bearing age continue to increase both internationally and in Canada. The care of HIV-infected pregnant women is complex, and multiple issues must be addressed, including the current and future health of the woman, minimization of the risk of maternal-infant HIV transmission, and maintenance of the well-being of the fetus and neonate. Vertical transmission of HIV can occur in utero, intrapartum and postpartum, but current evidence suggests that the majority of transmission occurs toward end of term, or during labour and delivery. Several maternal and obstetrical factors influence transmission rates, which can be reduced by optimal medical and obstetrical care. Zidovudine therapy has been demonstrated to reduce maternal-infant transmission significantly, but several issues, including the short and long term safety of antiretrovirals and the optimal use of combination antiretroviral therapy in pregnancy, remain to be defined. It is essential that health care workers providing care to these women fully understand the natural history of HIV disease in pregnancy, the factors that affect vertical transmission and the management issues during pregnancy. Close collaboration among a multidisciplinary team of knowledgeable health professionals and, most importantly, the woman herself can improve both maternal and infant outcomes.

  20. Acquired immunodeficiency syndrome and its ocular complications

    Directory of Open Access Journals (Sweden)

    Rao Narsing

    1994-01-01

    Full Text Available Human immunodeficiency virus infection is the first major pandemic of the 20th century. At present, almost 10 million people are known to be infected with this virus, and it is estimated that by the year 2000, approximately 40 million people will be infected. Transmission of this deadly infection is predominantly by sexual contact. Individuals infected with this virus pass through several predictable stages with progressive decrease in circulating CD4+ T cells. During the advanced stage, these patients develop various opportunistic infections or malignancies, or both. It is this advanced stage that was first recognized as AIDS, which has a 100% mortality rate. The opportunistic organisms that can involve the eye in patients with AIDS include cytomegalovirus, herpes zoster, Toxoplasma gondii, Mycobacterium tuberculosis, Cryptococcus neoformans, Mycobacterium avium-intracellulare, Pneumocystis carinii, Histoplasma capsulatum, Candida, and others. Intraocular lesions from these agents often represent disseminated infections. Visual morbidity occurs secondary to retinitis due to cytomegalovirus, herpes zoster, or Toxoplasma gondii. Anti-viral agents such as ganciclovir or foscarnet are effective against cytomegalovirus infection. The role of the ophthalmologist in the diagnosis and management of AIDS is becoming increasingly important. Not only does the eye reflect systemic disease, but ocular involvement may often precede systemic manifestations. In the AIDS patient, the ophthalmologist thus has an opportunity to make not only a slight-saving, but also life-saving diagnosis of disseminated opportunistic infections.

  1. Ethnopharmacology of human immunodeficiency virus in South ...

    African Journals Online (AJOL)

    Administrator

    2006-10-02

    Oct 2, 2006 ... This mini-review takes a look at the evaluations of South African medicinal plants to determine ... Key words: Human immunodeficiency virus, Medicinal plants, South Africa. ... The greatest degree of antiviral activity against.

  2. Screening for Human Immunodeficiency Virus (HIV)

    Science.gov (United States)

    ... with antiretroviral therapy (ART). Starting ART early—before symptoms appear—greatly reduces the risk of developing acquired immunodeficiency syndrome (AIDS, the final stage of HIV infection), having AIDS-related complications, or dying of ...

  3. Human immunodeficiency virus (HIV) infection in tuberculosis ...

    African Journals Online (AJOL)

    Human immunodeficiency virus (HIV) infection in tuberculosis patients in Addis ... METHODS: A cross-sectional survey whereby blood sample was collected ... of co-infection appeared to have increased compared to previous studies, 6.6%, ...

  4. Peculiarities of heart rate variability in children with gastroesophageal reflux disease

    Directory of Open Access Journals (Sweden)

    L. N. Boyarskaya

    2014-04-01

    Full Text Available Introduction. According to modern literature gastroesophageal reflux disease (GERD is multifactorial illness. One of the most important risk factors for this disease is considered a violation of autonomic nervous system balance. The study of heart rate variability (HRV in recent times is used as the most informative noninvasive method for quantitative assessment of autonomic regulation of heart rate. The aim of research. Determining the characteristics of autonomic regulation in children with gastroesophageal reflux disease. Materials and methods. The study involved 77 children with chronic gastroduodenal pathology (aged 9 to 17 years. The main group consisted of 54 children with GERD (Group 1 - 46 children with GERD with esophagitis, Group 2 - GERD without esophagitis, comparison group comprised 23 children without clinical and endoscopic manifestations of the esophagus pathology. The following methods were conducted: clinical and medical history, fibroesofagogastroduodenoscopy, intragastric pH-metry, pH monitoring in the esophagus, Holter cardiac monitoring, variational statistics, correlation analysis. Results. 34.8% of children with GERD with esophagitis had sympathicotonia (p<0.05, 43.5% - vagotonia and 21.7% - eytoniya (p<0,05. In 29.0% of children with GERD without esophagitis sympathicotonia was registered and the same number - vagotonia, eytoniya - in 42.0%. During the diurnal cycle predominance of sympathetic activity in children with GERD is observed, more girls with esophagitis and the presence of UCTD (undifferentiated connective tissue dysplasia symptoms. Girls with esophagitis had lower time analysis indices of HRV at day time relative to boys of the same group. The predominance of sympathetic activity in girls confirmed by significantly lower rates of pNN50 (p<0.05. Tension-time index at day time was significantly higher in girls with esophagitis than in boys, which also indicated the predominancy of sympathetic tone (74,4 ± 34

  5. Spiritual activities as a resistance resource for women with human immunodeficiency virus.

    Science.gov (United States)

    Sowell, R; Moneyham, L; Hennessy, M; Guillory, J; Demi, A; Seals, B

    2000-01-01

    Few studies have investigated the role that spiritual activities play in the adaptational outcomes of women with human immunodeficiency virus (HIV) disease. To examine the role of spiritual activities as a resource that may reduce the negative effects of disease-related stressors on the adaptational outcomes in HIV-infected women. A theoretically based causal model was tested to examine the role of spiritual activities as a moderator of the impact of HIV-related stressors (functional impairment, work impairment, and HIV-related symptoms) on two stress-related adaptational outcomes (emotional distress and quality of life), using a clinic-based sample of 184 HIV-positive women. Findings indicated that as spiritual activities increased, emotional distress decreased even when adjustments were made for HIV-related stressors. A positive relationship between spiritual activities and quality of life was found, which approached significance. Findings showed that HIV-related stressors have a significant negative effect on both emotional distress and quality of life. The findings support the hypothesis that spiritual activities are an important psychological resource accounting for individual variability in adjustment to the stressors associated with HIV disease.

  6. Recent advances in treatment of severe primary immunodeficiencies [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Andrew Gennery

    2015-12-01

    Full Text Available Primary immunodeficiencies are rare, inborn errors that result in impaired, disordered or uncontrolled immune responses. Whilst symptomatic and prophylactic treatment is available, hematopoietic stem cell transplantation is an option for many diseases, leading to cure of the immunodeficiency and establishing normal physical and psychological health. Newborn screening for some diseases, whilst improving outcomes, is focusing research on safer and less toxic treatment strategies, which result in durable and sustainable immune function without adverse effects. New conditioning regimens have reduced the risk of hematopoietic stem cell transplantation, and new methods of manipulating stem cell sources should guarantee a donor for almost all patients. Whilst incremental enhancements in transplantation technique have gradually improved survival outcomes over time, some of these new applications are likely to radically alter our approach to treating primary immunodeficiencies.

  7. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

    Science.gov (United States)

    Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; Azbaoui, Safaa El; Agader, Aomar; Hassani, Amal; Hafidi, Naima El; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent

    2015-01-01

    Summary Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. PMID:25703555

  8. Social Support: a Key Variable for Health Promotion and Chronic Disease Management in Hispanic Patients with Rheumatic Diseases

    Directory of Open Access Journals (Sweden)

    Alyssa T. Brooks

    2014-01-01

    Full Text Available Chronic diseases, including rheumatic diseases, can cause immense physical and psychosocial burden for patients. Many Hispanics suffering with arthritis face activity limitations. Social support, or the functional content of relationships, may be important to consider when examining treatment and outcomes for Hispanic individuals. Participants were recruited from an urban community health center (CHC as part of a larger health behavior study. A cross-sectional, descriptive, mixed methods analysis was conducted to explore the role of social support in the sample. Only Hispanic/Latino patients (n = 46 were included in this analysis. Interviews were conducted in both English and Spanish. The majority of the sample (87% perceived some presence of social support in their lives. The two most commonly cited types of social support were emotional and instrumental. The two most common sources of social support were family members other than spouses (52.2% and spouses (32.6%. Body mass index (BMI was significantly correlated with the number of perceived sources of support. The presence or absence and the role of social support in supporting optimal health outcomes should be considered for Hispanics with chronic rheumatic diseases. Involving family members and spouses in the plan of care for this population could facilitate health promotion and chronic disease management.

  9. Offer acceptance practices and geographic variability in allocation model for end-stage liver disease at transplant.

    Science.gov (United States)

    Wey, Andrew; Pyke, Joshua; Schladt, David P; Gentry, Sommer E; Weaver, Tim; Salkowski, Nicholas; Kasiske, Bertram L; Israni, Ajay K; Snyder, Jon J

    2018-04-01

    Offer acceptance practices may cause geographic variability in allocation Model for End-Stage Liver Disease (aMELD) score at transplant and could magnify the effect of donor supply and demand on aMELD variability. To evaluate these issues, offer acceptance practices of liver transplant programs and donation service areas (DSAs) were estimated using offers of livers from donors recovered between January 1, 2016, and December 31, 2016. Offer acceptance practices were compared with liver yield, local placement of transplanted livers, donor supply and demand, and aMELD at transplant. Offer acceptance was associated with liver yield (odds ratio, 1.32; P offer acceptance (r = 0.09; P = 0.50). Additionally, the association between DSA-level donor-to-candidate ratios and aMELD at transplant did not change after adjustment for offer acceptance. The average squared difference in median aMELD at transplant across DSAs was 24.6; removing the effect of donor-to-candidate ratios reduced the average squared differences more than removing the effect of program-level offer acceptance (33% and 15% reduction, respectively). Offer acceptance practices and donor-to-candidate ratios independently contributed to geographic variability in aMELD at transplant. Thus, neither offer acceptance nor donor-to-candidate ratios can explain all of the geographic variability in aMELD at transplant. Liver Transplantation 24 478-487 2018 AASLD. © 2018 by the American Association for the Study of Liver Diseases.

  10. Heart rate and heart rate variability in dogs with different degrees of myxomatous mitral valve disease

    DEFF Research Database (Denmark)

    Rasmussen, Caroline Elisabeth; Falk, Bo Torkel; Zois, Nora Elisabeth

    2011-01-01

    atrial area using color Doppler mapping) and no murmur, 2) CKCS with mild MR (20%50%) and no clinical signs of HF, 4) CKCS in HF (HF defined as left atrium to aortic root ratio (LA/Ao) >1.5, clinical signs of HF and furosemide responsiveness) and 5) non......-CKCS in HF. Dogs in HF were allowed HF therapy. Both HR and HRV were analysed over a 24-hour period, while HRV were also analysed over a 6-hour nightly period. Analyses of variance were performed with HR or HRV as response variables and the explanatory variables dog group and echocardiographic indices...

  11. Diagnostic Value of Selected Echocardiographic Variables to Identify Pulmonary Hypertension in Dogs with Myxomatous Mitral Valve Disease.

    Science.gov (United States)

    Tidholm, A; Höglund, K; Häggström, J; Ljungvall, I

    2015-01-01

    Pulmonary hypertension (PH) is commonly associated with myxomatous mitral valve disease (MMVD). Because dogs with PH present without measureable tricuspid regurgitation (TR), it would be useful to investigate echocardiographic variables that can identify PH. To investigate associations between estimated systolic TR pressure gradient (TRPG) and dog characteristics and selected echocardiographic variables. 156 privately owned dogs. Prospective observational study comparing the estimations of TRPG with dog characteristics and selected echocardiographic variables in dogs with MMVD and measureable TR. Tricuspid regurgitation pressure gradient was significantly (P modeled as linear variables LA/Ao (P modeled as second order polynomial variables: AT/DT (P = .0039) and LVIDDn (P value for the final model was 0.45 and receiver operating characteristic curve analysis suggested the model's performance to predict PH, defined as 36, 45, and 55 mmHg as fair (area under the curve [AUC] = 0.80), good (AUC = 0.86), and excellent (AUC = 0.92), respectively. In dogs with MMVD, the presence of PH might be suspected with the combination of decreased PA AT/DT, increased RVIDDn and LA/Ao, and a small or great LVIDDn. Copyright © 2015 The Authors Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  12. Genetic loci associated with heart rate variability and their effects on cardiac disease risk

    NARCIS (Netherlands)

    Nolte, Ilja M; Munoz, M Loretto; Tragante, Vinicius; Amare, Azmeraw T; Jansen, Rick; Vaez, Ahmad; von der Heyde, Benedikt; Avery, Christy L; Bis, Joshua C; Dierckx, Bram; van Dongen, Jenny; Gogarten, Stephanie M; Goyette, Philippe; Hernesniemi, Jussi; Huikari, Ville; Hwang, Shih-Jen; Jaju, Deepali; Kerr, Kathleen F; Kluttig, Alexander; Krijthe, Bouwe P; Kumar, Jitender; van der Laan, Sander W; Lyytikäinen, Leo-Pekka; Maihofer, Adam X; Minassian, Arpi; van der Most, Peter J; Müller-Nurasyid, Martina; Nivard, Michel; Salvi, Erika; Stewart, James D; Thayer, Julian F; Verweij, Niek; Wong, Andrew; Zabaneh, Delilah; Zafarmand, Mohammad H; Abdellaoui, Abdel; Albarwani, Sulayma; Albert, Christine; Alonso, Alvaro; Ashar, Foram; Auvinen, Juha; Axelsson, Tomas; Baker, Dewleen G; de Bakker, Paul I W; Barcella, Matteo; Bayoumi, Riad; Bieringa, Rob J; Boomsma, Dorret; Boucher, Gabrielle; Britton, Annie R; Christophersen, Ingrid; Dietrich, Andrea; Ehret, George B; Ellinor, Patrick T; Eskola, Markku; Felix, Janine F; Floras, John S; Franco, Oscar H; Friberg, Peter; Gademan, Maaike G J; Geyer, Mark A; Giedraitis, Vilmantas; Hartman, Catharina A; Hemerich, Daiane; Hofman, Albert; Hottenga, Jouke-Jan; Huikuri, Heikki; Hutri-Kähönen, Nina; Jouven, Xavier; Junttila, Juhani; Juonala, Markus; Kiviniemi, Antti M; Kors, Jan A.; Kumari, Meena; Kuznetsova, Tatiana; Laurie, Cathy C; Lefrandt, Joop D.; Li, Yong; Li, Yun; Liao, Duanping; Limacher, Marian C; Lin, Henry J; Lindgren, Cecilia M; Lubitz, Steven A; Mahajan, Anubha; McKnight, Barbara; Zu Schwabedissen, Henriette Meyer; Milaneschi, Yuri; Mononen, Nina; Morris, Andrew P; Nalls, Mike A; Navis, Gerjan; Neijts, Melanie; Nikus, Kjell; North, Kari E; O'Connor, Daniel T; Ormel, Johan; Perz, Siegfried; Peters, Annette; Psaty, Bruce M; Raitakari, Olli T; Risbrough, Victoria B; Sinner, Moritz F; Siscovick, David; Smit, Johannes H; Smith, Nicholas L; Soliman, Elsayed Z; Sotoodehnia, Nona; Staessen, Jan A; Stein, Phyllis K; Stilp, Adrienne M; Stolarz-Skrzypek, Katarzyna; Strauch, Konstantin; Sundström, Johan; Swenne, Cees A.; Syvänen, Ann-Christine; Tardif, Jean-Claude; Taylor, Kent D; Teumer, Alexander; Thornton, Timothy A; Tinker, Lesley E; Uitterlinden, André G; van Setten, Jessica; Voss, Andreas; Waldenberger, Melanie; Wilhelmsen, Kirk C; Willemsen, Gonneke; Wong, Quenna; Zhang, Zhu-Ming; Zonderman, Alan B; Cusi, Daniele; Evans, Michele K; Greiser, Halina K; van der Harst, Pim; Hassan, Mohammad; Ingelsson, Erik; Järvelin, Marjo-Riitta; Kääb, Stefan; Kähönen, Mika; Kivimaki, Mika; Kooperberg, Charles; Kuh, Diana; Lehtimäki, Terho; Lind, Lars; Nievergelt, Caroline M; O'Donnell, Chris J; Oldehinkel, Albertine J; Penninx, Brenda; Reiner, Alexander P; Riese, Harriëtte; Van Roon, Arie M.; Rioux, John D; Rotter, Jerome I; Sofer, Tamar; Stricker, Bruno H; Tiemeier, Henning; Vrijkotte, Tanja G M; Asselbergs, Folkert W; Brundel, Bianca J J M; Heckbert, Susan R; Whitsel, Eric A; den Hoed, Marcel; Snieder, Harold; de Geus, Eco J C

    2017-01-01

    Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 individuals of European ancestry, we detect 17

  13. Relationship between current level of immunodeficiency and non-acquired immunodeficiency syndrome-defining malignancies

    DEFF Research Database (Denmark)

    Reekie, Joanne; Kosa, Csaba; Engsig, Frederik

    2010-01-01

    In the combined antiretroviral therapy (cART) era, non-acquired immunodeficiency syndrome (AIDS)-defining malignancies account for more morbidity and mortality in human immunodeficiency virus-infected patients than AIDS-defining malignancies. However, conflicting data have been reported...

  14. The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

    Directory of Open Access Journals (Sweden)

    Javier Gervas-Arruga

    Full Text Available Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1. Genetic components strongly influence bone remodelling. In addition, chronic inflammation produced by Gaucher cells induces the production of several cytokines, which leads to direct changes in the bone remodelling process and can also affect the process indirectly through other immune cells. In this study, we analysed the association between bone mineral density (BMD, bone marrow burden score, and relevant genetic polymorphisms related to bone metabolism, as well as profiles of proinflammatory cytokines in a GD1 cohort. This study included 83 patients distributed according to bone status. BMD was measured with DXA and broadband ultrasound attenuation; bone marrow involvement was evaluated using MRI. We also analysed 26 SNPs located in 14 genes related to bone metabolism. To assess proinflammatory status, we analysed IL-4, IL-6, IL-7, IL-10, IL-13, MIP-1α, MIP-1β, and TNFα in plasma samples from 71 control participants and GD1 patients. SNP genotype proportions and BMD differed significantly between ESRI c.453-397T>C and VDR c.1024+283G>A variants. We also observed significant associations between GD1 genotypes and bone affectation. When patients were stratified by spleen status, we observed significant correlations between non-/splenectomized groups and Spanish MRI (S-MRI score. Across genotype proportions of non-/splenectomized patients and S-MRI, we observed significant differences in ESRI c.453-397T>C, VDR c.-83-25988G>A, and TNFRSF11B c.9C>G polymorphisms. We observed different significant proinflammatory profiles between control participants, treatment-naïve patients, and patients on enzyme replacement therapy (ERT; between non-/splenectomized patients (between untreated and ERT-treated patients and among those with differing GBA

  15. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  16. Clinical aspects of feline immunodeficiency and feline leukemia virus infection.

    Science.gov (United States)

    Hartmann, Katrin

    2011-10-15

    Feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) are retroviruses with a global impact on the health of domestic cats. The two viruses differ in their potential to cause disease. FIV can cause an acquired immunodeficiency syndrome that increases the risk of developing opportunistic infections, neurological diseases, and tumors. In most naturally infected cats, however, FIV itself does not cause severe clinical signs, and FIV-infected cats may live many years without any health problems. FeLV is more pathogenic, and was long considered to be responsible for more clinical syndromes than any other agent in cats. FeLV can cause tumors (mainly lymphoma), bone marrow suppression syndromes (mainly anemia) and lead to secondary infectious diseases caused by suppressive effects of the virus on bone marrow and the immune system. Today, FeLV is less important as a deadly infectious agent as in the last 20 years prevalence has been decreasing in most countries. Copyright © 2011 Elsevier B.V. All rights reserved.

  17. Plus disease in retinopathy of prematurity: a continuous spectrum of vascular abnormality as basis of diagnostic variability

    Science.gov (United States)

    Campbell, J. Peter; Kalpathy-Cramer, Jayashree; Erdogmus, Deniz; Tian, Peng; Kedarisetti, Dharanish; Moleta, Chace; Reynolds, James D.; Hutcheson, Kelly; Shapiro, Michael J.; Repka, Michael X.; Ferrone, Philip; Drenser, Kimberly; Horowitz, Jason; Sonmez, Kemal; Swan, Ryan; Ostmo, Susan; Jonas, Karyn E.; Chan, R.V. Paul; Chiang, Michael F.

    2016-01-01

    Objective To identify patterns of inter-expert discrepancy in plus disease diagnosis in retinopathy of prematurity (ROP). Design We developed two datasets of clinical images of varying disease severity (100 images and 34 images) as part of the Imaging and Informatics in ROP study, and determined a consensus reference standard diagnosis (RSD) for each image, based on 3 independent image graders and the clinical exam. We recruited 8 expert ROP clinicians to classify these images and compared the distribution of classifications between experts and the RSD. Subjects, Participants, and/or Controls Images obtained during routine ROP screening in neonatal intensive care units. 8 participating experts with >10 years of clinical ROP experience and >5 peer-reviewed ROP publications. Methods, Intervention, or Testing Expert classification of images of plus disease in ROP. Main Outcome Measures Inter-expert agreement (weighted kappa statistic), and agreement and bias on ordinal classification between experts (ANOVA) and the RSD (percent agreement). Results There was variable inter-expert agreement on diagnostic classifications between the 8 experts and the RSD (weighted kappa 0 – 0.75, mean 0.30). RSD agreement ranged from 80 – 94% agreement for the dataset of 100 images, and 29 – 79% for the dataset of 34 images. However, when images were ranked in order of disease severity (by average expert classification), the pattern of expert classification revealed a consistent systematic bias for each expert consistent with unique cut points for the diagnosis of plus disease and pre-plus disease. The two-way ANOVA model suggested a highly significant effect of both image and user on the average score (P<0.05, adjusted R2=0.82 for dataset A, and P< 0.05 and adjusted R2 =0.6615 for dataset B). Conclusions and Relevance There is wide variability in the classification of plus disease by ROP experts, which occurs because experts have different “cut-points” for the amounts of

  18. Variability of breath condensate pH may contribute to the better understanding of non-allergic seasonal respiratory diseases

    Science.gov (United States)

    Kullmann, Tamás; Szipőcs, Annamária

    2017-09-01

    The seasonal variability of certain non-allergic respiratory diseases is not clearly understood. Analysis of the breath condensate, the liquid that can be collected by breathing into a cold tube, has been proposed to bring closer to the understanding of airway pathologies. It has been assumed, that (1) airway lining fluid was a stable body liquid and (2) the breath condensate samples were representative of the airway lining fluid. Research was focussed on the identification of biomarkers indicative of respiratory pathologies. Despite 30 years of extended investigations breath condensate analysis has not gained any clinical implementation so far. The pH of the condensate is the characteristic that can be determined with the highest reproducibility. The present paper shows, that contrary to the initial assumptions, breath condensate is not a representative of the airway lining fluid, and the airway lining fluid is not a stable body liquid. Condensate pH shows baseline variability and it is influenced by drinking and by the ambient temperature. The changes in condensate pH are linked to changes in airway lining fluid pH. The variability of airway lining fluid pH may explain seasonal incidence of certain non-allergic respiratory diseases such as the catching of a common cold and the increased incidence of COPD exacerbations and exercise-induced bronchoconstriction in cold periods.

  19. Variability of ferritin measurements in chronic kidney disease; implications for iron management.

    Science.gov (United States)

    Ford, Bradley A; Coyne, Daniel W; Eby, Charles S; Scott, Mitchell G

    2009-01-01

    Serum ferritin levels are a proxy measure of iron stores; and existing guidelines for managing anemia in hemodialysis patients suggest that serum ferritin concentrations should be maintained at >200 ng/ml. The KDOQI recommendations further state there is insufficient evidence advocating routine intravenous iron when ferritin levels exceed 500 ng/ml. Here we determined the interassay differences and short-term intraindividual variability of serum ferritin measurements in patients on chronic hemodialysis to illustrate how these variances may affect treatment decisions. Intermethod variations of up to 150 ng/ml were found comparing six commonly used ferritin assays that evaluated thirteen pools of serum from hemodialysis and nonhemodialysis patients. The intraindividual variability for ferritin in 60 stable hemodialysis patients ranged between 2-62% measured over an initial two-week period and from 3-52% when factored over a six-week period. Our results suggests that single serum ferritin values should not be used to guide clinical decisions regarding treatment of chronic hemodialysis patients with intravenous iron due to significant analytical and intraindividual variability.

  20. Human immunodeficiency virus and tuberculosis coinfection in children: challenges in diagnosis and treatment.

    NARCIS (Netherlands)

    Verhagen, L.M.; Warris, A.; Soolingen, D. van; Groot, R. de; Hermans, P.W.M.

    2010-01-01

    The burden of childhood tuberculosis (TB) is influenced by the human immunodeficiency virus (HIV) epidemic and this dangerous synergy affects various aspects of both diseases; from pathogenesis and the epidemiologic profile to clinical presentation, diagnosis, treatment, and prevention. HIV-infected

  1. West Nile virus meningitis in a patient with human immunodeficiency virus type 1 infection

    Directory of Open Access Journals (Sweden)

    D. Pilalas

    2017-09-01

    Full Text Available The emergence of West Nile virus lineage 2 in central Macedonia, Greece, in 2010 resulted in large outbreaks for 5 consecutive years. We report a case of viral meningitis in an individual infected with human immunodeficiency virus type 1, which preceded the recognition of the outbreak and was confirmed retrospectively as West Nile virus neuroinvasive disease.

  2. Short-Term Blood Pressure Variability Relates to the Presence of Subclinical Brain Small Vessel Disease in Primary Hypertension.

    Science.gov (United States)

    Filomena, Josefina; Riba-Llena, Iolanda; Vinyoles, Ernest; Tovar, José L; Mundet, Xavier; Castañé, Xavier; Vilar, Andrea; López-Rueda, Antonio; Jiménez-Baladó, Joan; Cartanyà, Anna; Montaner, Joan; Delgado, Pilar

    2015-09-01

    Blood pressure (BP) variability is associated with stroke risk, but less is known about subclinical cerebral small vessel disease (CSVD). We aimed to determine whether CSVD relates to short-term BP variability independently of BP levels and also, whether they improve CSVD discrimination beyond clinical variables and office BP levels. This was a cohort study on asymptomatic hypertensives who underwent brain magnetic resonance imaging and 24-hour ambulatory BP monitoring. Office and average 24-hour, daytime and nighttime BP levels, and several metrics of BP variability (SD, weighted SD, coefficient of variation, and average real variability [ARV]) were calculated. Definition of CSVD was based on the presence of lacunar infarcts and white matter hyperintensity grades. Multivariate analysis and integrated discrimination improvement were performed to assess whether BP variability and levels were independently associated with CSVD and improved its discrimination. Four hundred eighty-seven individuals participated (median age, 64; 47% women). CSVD was identified in 18.9%, related to age, male sex, diabetes mellitus, use of treatment, ambulatory BP monitoring-defined BP levels, and ARV of systolic BP at any period. The highest prevalence (33.7%) was found in subjects with both 24-hour BP levels and ARV elevated. BP levels at any period and ARV (24 hours and nocturnal) emerged as independent predictors of CSVD, and discrimination was incrementally improved although not to a clinically significant extent (integrated discrimination improvement, 5.31%, 5.17% to 5.4%). Ambulatory BP monitoring-defined BP levels and ARV of systolic BP relate to subclinical CSVD in hypertensive individuals. © 2015 American Heart Association, Inc.

  3. Assessing the variability of Red Stripe Disease in Louisiana sugarcane using precision agriculture methods

    Science.gov (United States)

    Symptoms of red stripe disease caused by Acidovorax avenae subsp. avenae in Louisiana between 1985 and 2010 were limited to the leaf stripe form which caused no apparent yield loss. During 2010, the more severe top rot form was observed, and a study was initiated to investigate the distribution of r...

  4. Depression as a non-causal variable risk marker in coronary heart disease

    NARCIS (Netherlands)

    Meijer, Anna; Zuidersma, Marij; de Jonge, Peter

    2013-01-01

    Background: After decades of investigations, explanations for the prospective association between depression and coronary heart disease (CHD) are still incomplete. Discussion: Depression is often suggested to be causally related to CHD. Based on the available literature, we would rather argue that

  5. Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions.

    Science.gov (United States)

    Gelpi, Ellen; Lladó, Albert; Clarimón, Jordi; Rey, Maria Jesús; Rivera, Rosa Maria; Ezquerra, Mario; Antonell, Anna; Navarro-Otano, Judith; Ribalta, Teresa; Piñol-Ripoll, Gerard; Pérez, Anna; Valldeoriola, Francesc; Ferrer, Isidre

    2012-09-01

    Basophilic inclusion body disease and neuronal intermediate filament inclusion disease (NIFID) are rare diseases included among frontotemporal lobar degenerations with FUS-positive inclusions (FTLD-FUS). We report clinical and pathologic features of 2 new patients and reevaluate neuropathologic characteristics of 2 previously described cases, including an early-onset case of basophilic inclusion body disease (aged 38 years) with a 5-year disease course and abundant FUS-positive inclusion bodies and 3 NIFID cases. One NIFID case (aged 37 years) presented with early-onset psychiatric disturbances and rapidly progressive cognitive decline. Two NIFID cases had later onset (aged 64 years and 70 years) and complex neurologic deficits. Postmortem neuropathologic studies in late-onset NIFID cases disclosed α-internexin-positive "hyaline conglomerate"-type inclusions that were positive with 1 commercial anti-FUS antibody directed to residues 200 and 250, but these were negative to amino acids 90 and 220 of human FUS. Early-onset NIFID had similar inclusions that were positive with both commercial anti-FUS antibodies. Genetic testing performed on all cases revealed no FUS gene mutations. These findings indicate that phenotypic variability in NIFID, including clinical manifestations and particular neuropathologic findings, may be related to the age at onset and individual differences in the evolution of lesions.

  6. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

    Science.gov (United States)

    Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit

    2014-12-01

    Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.

  7. PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

    Science.gov (United States)

    Patiroglu, T; Akar, H H; Unal, E; Chiang, S C; Schlums, H; Tesi, B; Ozkars, M Y; Karakukcu, M

    2016-01-01

    Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014. Of the 20 OCA patients, 7 fulfilled diagnostic criteria for HLH, 9 showed defective functions of CD8 T cells and natural killer cells, and 8 received a definitive molecular diagnosis. Among the patients, we also report a patient diagnosed with two different genetic defects, in TYR and JAK3 genes, causing, respectively, OCA and ID. Our results illustrate the variability of clinical presentations and disease severity in OCA-ID patients, with consequent challenges in diagnosing and treating these patients.

  8. Climate variability and change in the United States: potential impacts on water- and foodborne diseases caused by microbiologic agents.

    Science.gov (United States)

    Rose, J B; Epstein, P R; Lipp, E K; Sherman, B H; Bernard, S M; Patz, J A

    2001-05-01

    Exposure to waterborne and foodborne pathogens can occur via drinking water (associated with fecal contamination), seafood (due to natural microbial hazards, toxins, or wastewater disposal) or fresh produce (irrigated or processed with contaminated water). Weather influences the transport and dissemination of these microbial agents via rainfall and runoff and the survival and/or growth through such factors as temperature. Federal and state laws and regulatory programs protect much of the U.S. population from waterborne disease; however, if climate variability increases, current and future deficiencies in areas such as watershed protection, infrastructure, and storm drainage systems will probably increase the risk of contamination events. Knowledge about transport processes and the fate of microbial pollutants associated with rainfall and snowmelt is key to predicting risks from a change in weather variability. Although recent studies identified links between climate variability and occurrence of microbial agents in water, the relationships need further quantification in the context of other stresses. In the marine environment as well, there are few studies that adequately address the potential health effects of climate variability in combination with other stresses such as overfishing, introduced species, and rise in sea level. Advances in monitoring are necessary to enhance early-warning and prevention capabilities. Application of existing technologies, such as molecular fingerprinting to track contaminant sources or satellite remote sensing to detect coastal algal blooms, could be expanded. This assessment recommends incorporating a range of future scenarios of improvement plans for current deficiencies in the public health infrastructure to achieve more realistic risk assessments.

  9. A Case Of Invasive Aspergillosis In A Patient With No identifiable Immunodeficiencies

    Directory of Open Access Journals (Sweden)

    Carey MP

    2008-01-01

    Full Text Available Invasive fungal infections usually affect patients with immunodeficiencies and very rarely patients with no known or identifiable risk factors. Diagnosis could be delayed in patients without previously known immunodeficiencies due to a low index of suspicion, leading to a delay in treatment and a potential poor outcome. We report a case of a postpartum woman with no history of immuno-compromised disease who developed left hemiparesis with evidence of invasive aspergollosis affecting the nervous system, and leading to fatal outcome. The patient had a mass-like lesion in the neuroimaging with soft tissue shadowing in the chest x-ray leading to initial diagnosis of tuberculosis. The brain biopsy showed changes consistent with a diagnosis of aspergillosis. The source of the aspergillus infection was not clear. Aspergillus infection should be considered in patients with no identifiable immunodeficiencies who have abnormal brain imaging and chest x-ray, as early treatment may alter the outcome.

  10. Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Emily M. Mace

    2018-03-01

    Full Text Available Human natural killer (NK cells play a critical role in the control of viral infections and malignancy. Their importance in human health and disease is illustrated by severe viral infections in patients with primary immunodeficiencies that affect NK cell function and/or development. The recent identification of patients with phosphoinositide-3-kinase (PI3K-signaling pathway mutations that can cause primary immunodeficiency provides valuable insight into the role that PI3K signaling plays in human NK cell maturation and lytic function. There is a rich literature that demonstrates a requirement for PI3K in multiple key aspects of NK cell biology, including development/maturation, homing, priming, and function. Here, I briefly review these previous studies and place them in context with recent findings from the study of primary immunodeficiency patients, particularly those with hyperactivating mutations in PI3Kδ signaling.

  11. Variability of Stepping during a Virtual Reality Paradigm in Parkinson's Disease Patients with and without Freezing of Gait.

    Directory of Open Access Journals (Sweden)

    Moran Gilat

    Full Text Available Freezing of gait is a common and debilitating symptom affecting many patients with advanced Parkinson's disease. Although the pathophysiology of freezing of gait is not fully understood, a number of observations regarding the pattern of gait in patients with this symptom have been made. Increased 'Stride Time Variability' has been one of the most robust of these features. In this study we sought to identify whether patients with freezing of gait demonstrated similar fluctuations in their stepping rhythm whilst performing a seated virtual reality gait task that has recently been used to demonstrate the neural correlate of the freezing phenomenon.Seventeen patients with freezing and eleven non-freezers performed the virtual reality task twice, once whilst 'On' their regular Parkinsonian medication and once in their practically defined 'Off' state.All patients displayed greater step time variability during their 'Off' state assessment compared to when medicated. Additionally, in the 'Off' state, patients with freezing of gait had greater step time variability compared to non-freezers. The five steps leading up to a freezing episode in the virtual reality environment showed a significant increase in step time variability although the final three steps preceding the freeze were not characterized by a progressive shortening of latency.The results of this study suggest that characteristic features of gait disturbance observed in patients with freezing of gait can also be demonstrated with a virtual reality paradigm. These findings suggest that virtual reality may offer the potential to further explore the freezing phenomenon in Parkinson's disease.

  12. Sleep pattern in patients with Chronic Obstructive Pulmonary Disease and correlation among gasometric, spirometric, and polysomnographic variables

    Directory of Open Access Journals (Sweden)

    Santos Carlos Eduardo Ventura Gaio dos

    2003-01-01

    Full Text Available OBJECTIVE: There are few studies on chronic obstructive pulmonary disease (COPD establishing differences between the functional parameters of the disease and sleep variables. The aim of the study was to describe the sleep pattern of these patients and to correlate spirometric, gasometric and polysomnographic variables. METHODS: Transversal study using COPD patients submitted to spirometry, arterial gasometry, and polysomnography. RESULTS: 21 male patients were studied with average age = 67 ± 9; 7 ± 4 average points in the Epworth sleepiness scale, average Tiffenau's index (FEV1/FVC = 54 ± 13.0%, average PaO2 = 68 ± 11 mmHg, average PaCO2 = 37 ± 6 mmHg. Sleep efficiency decreased (65 ± 16% with the reduction of slow wave sleep (8 ± 9% and rapid eye movement (REM sleep (15 ± 8%. Average T90 was 43 ± 41%. Average apnea-hypopnea index (AHI = 3 ± 5/h, where two patients (9.5% presented obstructive sleep apnea. A significant correlation was observed between PaO2 and T90 (p < 0.01, PaCO2 and T90 (p < 0.05, and AHI and the cardiac rate during REM (p < 0.01. A higher number of arousals and stage change was observed. There was no linear correlation between spirometric and polysomnographic variables. CONCLUSION: Poor sleep quality of these patients was characterized by low sleep efficiency, high number of awakenings and shift of stages. There were no correlations between the spirometric and polysomnographic variables.

  13. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

    Science.gov (United States)

    Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan

    2016-09-01

    Patients with urea cycle disorders (UCDs) have an increased risk of neurological disease manifestation. Determining the effect of diagnostic and therapeutic interventions on the neurological outcome. Evaluation of baseline, regular follow-up and emergency visits of 456 UCD patients prospectively followed between 2011 and 2015 by the E-IMD patient registry. About two-thirds of UCD patients remained asymptomatic until age 12 days [i.e. the median age at diagnosis of patients identified by newborn screening (NBS)] suggesting a potential benefit of NBS. In fact, NBS lowered the age at diagnosis in patients with late onset of symptoms (>28 days), and a trend towards improved long-term neurological outcome was found for patients with argininosuccinate synthetase and lyase deficiency as well as argininemia identified by NBS. Three to 17 different drug combinations were used for maintenance therapy, but superiority of any single drug or specific drug combination above other combinations was not demonstrated. Importantly, non-interventional variables of disease severity, such as age at disease onset and peak ammonium level of the initial hyperammonemic crisis (cut-off level: 500 μmol/L) best predicted the neurological outcome. Promising results of NBS for late onset UCD patients are reported and should be re-evaluated in a larger and more advanced age group. However, non-interventional variables affect the neurological outcome of UCD patients. Available evidence-based guideline recommendations are currently heterogeneously implemented into practice, leading to a high variability of drug combinations that hamper our understanding of optimised long-term and emergency treatment.

  14. Resting State BOLD Variability in Alzheimer’s Disease: A Marker of Cognitive Decline or Cerebrovascular Status?

    Directory of Open Access Journals (Sweden)

    Vanessa Scarapicchia

    2018-02-01

    Full Text Available Background: Alzheimer’s disease (AD is a neurodegenerative disorder that may benefit from early diagnosis and intervention. Therefore, there is a need to identify early biomarkers of AD using non-invasive techniques such as functional magnetic resonance imaging (fMRI. Recently, novel approaches to the analysis of resting-state fMRI data have been developed that focus on the moment-to-moment variability in the blood oxygen level dependent (BOLD signal. The objective of the current study was to investigate BOLD variability as a novel early biomarker of AD and its associated psychophysiological correlates.Method: Data were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI 2 database from 19 participants with AD and 19 similarly aged controls. For each participant, a map of BOLD signal variability (SDBOLD was computed as the standard deviation of the BOLD timeseries at each voxel. Group comparisons were performed to examine global differences in resting state SDBOLD in AD versus healthy controls. Correlations were then examined between participant SDBOLD maps and (1 ADNI-derived composite scores of memory and executive function and (2 neuroimaging markers of cerebrovascular status.Results: Between-group comparisons revealed significant (p < 0.05 increases in SDBOLD in patients with AD relative to healthy controls in right-lateralized frontal regions. Lower memory scores and higher WMH burden were associated with greater SDBOLD in the healthy control group (p < 0.1, but not individuals with AD.Conclusion: The current study provides proof of concept of a novel resting state fMRI analysis technique that is non-invasive, easily accessible, and clinically compatible. To further explore the potential of SDBOLD as a biomarker of AD, additional studies in larger, longitudinal samples are needed to better understand the changes in SDBOLD that characterize earlier stages of disease progression and their underlying psychophysiological

  15. Napier grass stunt disease prevalence, incidence, severity and genetic variability of the associated phytoplasma in Uganda

    DEFF Research Database (Denmark)

    Kawube, Geofrey; Talwana, Herbert; Nicolaisen, Mogens

    2015-01-01

    The prevalence, incidence and severity of Napier grass stunt disease (NGSD) caused by phytoplasma on Pennisetum purpureum, the main fodder for livestock under intensive and semi-intensive management systems in Uganda were determined following a field survey carried out in 17 districts. A total...... of 298 Napier grass fields were visited and NGSD status visually assessed and 1192 samples collected for identification and confirmation of the phytoplasma by polymerase chain reaction (PCR) assays using universal primers P1/P6 nested with R16F2n/R16R2n and, tuf primers 890/340 nested with 835 and 400....... From these, 221 PCR products were sequenced and sequences aligned. Napier grass stunt disease is widely spread at an epidemic proportion, with the districts at different risk levels. The most affected districts are in central, East and North parts of the country while those in the west are least...

  16. Variable activation of immune response by quinoa (Chenopodium quinoa Willd.) prolamins in celiac disease.

    Science.gov (United States)

    Zevallos, Victor F; Ellis, H Julia; Suligoj, Tanja; Herencia, L Irene; Ciclitira, Paul J

    2012-08-01

    Celiac disease is an enteropathy triggered by dietary gluten found in wheat, barley, and rye. The current treatment is a strict gluten-free diet. Quinoa is a highly nutritive plant from the Andes, with low concentrations of prolamins, that has been recommended as part of a gluten-free diet; however, few experimental data support this recommendation. We aimed to determine the amount of celiac-toxic prolamin epitopes in quinoa cultivars from different regions of the Andes and the ability of these epitopes to activate immune responses in patients with celiac disease. The concentration of celiac-toxic epitopes was measured by using murine monoclonal antibodies against gliadin and high-molecular-weight glutenin subunits. Immune response was assessed by proliferation assays of celiac small intestinal T cells/interferon-γ (IFN-γ) and production of IFN-γ/IL-15 after organ culture of celiac duodenal biopsy samples. Fifteen quinoa cultivars were tested: 4 cultivars had quantifiable concentrations of celiac-toxic epitopes, but they were below the maximum permitted for a gluten-free food. Cultivars Ayacuchana and Pasankalla stimulated T cell lines at levels similar to those for gliadin and caused secretion of cytokines from cultured biopsy samples at levels comparable with those for gliadin. Most quinoa cultivars do not possess quantifiable amounts of celiac-toxic epitopes. However, 2 cultivars had celiac-toxic epitopes that could activate the adaptive and innate immune responses in some patients with celiac disease. These findings require further investigation in the form of in vivo studies, because quinoa is an important source of nutrients for patients with celiac disease.

  17. Sexuality as an Independent Variable: The Contribution to (or Protection against) Chronic Disease,

    Science.gov (United States)

    1978-01-05

    a few. A parallel objective would be to test the idea that patterns of sexual activity increase vulnerability to disease in general and to premature...study envisioned here. p. 13 References Armenian, H. K., Lilienfeld , A. M., & Diamond, E. L. Epidemiologic characteristics of patients with prostatic...Hutchinson & Ross, 1974. Ellis, H. Studies in the psychology of sex. (2 volumes). New York: Random House, 1936. Ellis, H. My life. Boston: Houghton Mifflin

  18. Locating disease genes using Bayesian variable selection with the Haseman-Elston method

    Directory of Open Access Journals (Sweden)

    He Qimei

    2003-12-01

    Full Text Available Abstract Background We applied stochastic search variable selection (SSVS, a Bayesian model selection method, to the simulated data of Genetic Analysis Workshop 13. We used SSVS with the revisited Haseman-Elston method to find the markers linked to the loci determining change in cholesterol over time. To study gene-gene interaction (epistasis and gene-environment interaction, we adopted prior structures, which incorporate the relationship among the predictors. This allows SSVS to search in the model space more efficiently and avoid the less likely models. Results In applying SSVS, instead of looking at the posterior distribution of each of the candidate models, which is sensitive to the setting of the prior, we ranked the candidate variables (markers according to their marginal posterior probability, which was shown to be more robust to the prior. Compared with traditional methods that consider one marker at a time, our method considers all markers simultaneously and obtains more favorable results. Conclusions We showed that SSVS is a powerful method for identifying linked markers using the Haseman-Elston method, even for weak effects. SSVS is very effective because it does a smart search over the entire model space.

  19. Clinical-Epidemiological Pattern of Primary Immunodeficiencies in Malaysia 1987-2006: A 20 year experience in Four Malaysian Hospitals.

    Science.gov (United States)

    Noh, L M; Nasuruddin, B A; Abdul Latiff, A H; Noah, R M; Kamarul Azahar, M R; Norzila, M Z; Zulkifli, I; Gill, H K; Nik Zainal, N I; Suhaimi, A W M; Nik Khairulddin, N Y; Maraina, H; Intan, H I; Mat, I; Shahnaz, M; B H O, Azizi

    2013-01-01

    To determine the clinical and epidemiological characteristics of patients seen with primary immunodeficiencies referred at four Malaysian Hospitals between 1987 to 2007. Patient data were retrospectively obtained from patient records and supplemented by information from a standardized questionnaires taken at the time of diagnosis from 4 participating hospitals. The completed data were transferred to document records kept by the first author. The diagnoses made were based on criteria set by WHO Scientific Committee 1986. Fifty one (51) patients with completed records satisfied the criteria of primary immunodeficiencies based on WHO Scientific Committee 1986. Predominant Antibody deficiency (40.4%) is the commonest of the class of primary immunodeficiency (based on modified IUIS classification) followed by phagocytic defect (17.3%), combined immunodeficiencies (15.4%) and other cellular immunodeficiencies (11.5%). The commonest clinical presentation is pneumonia (54%) . A positive Family history with a close family relative afflicted was a strong pointer to diagnosis for PID (52.6%) Primary immnodeficiencies are seen in all the major ethnic groups of Malaysia, predominantly among Malays. As observed in other patient registries, diagnostic delay remains the major cause of morbidity and mortality. Primary immunodeficiencies is relative rare but is an emerging disease in Malaysia. Creating awareness of the disease, may reveal more cases within the community. It is sufficient to be a health issue in Malaysia as in other developing countries in the future.

  20. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Funda Erol Çipe

    2014-01-01

    Full Text Available Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1 was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.

  1. Modelling accuracy and variability of motor timing in treated and untreated Parkinson’s disease and healthy controls

    Directory of Open Access Journals (Sweden)

    Catherine Rhian Gwyn Jones

    2011-12-01

    Full Text Available Parkinson’s disease (PD is characterised by difficulty with the timing of movements. Data collected using the synchronization-continuation paradigm, an established motor timing paradigm, have produced varying results but with most studies finding impairment. Some of this inconsistency comes from variation in the medication state tested, in the inter-stimulus intervals (ISI selected, and in changeable focus on either the synchronization (tapping in time with a tone or continuation (maintaining the rhythm in the absence of the tone phase. We sought to re-visit the paradigm by testing across four groups of participants: healthy controls, medication naïve de novo PD patients, and treated PD patients both ‘on’ and ‘off’ dopaminergic medication. Four finger tapping intervals (ISI were used: 250ms, 500ms, 1000ms and 2000ms. Categorical predictors (group, ISI, and phase were used to predict accuracy and variability using a linear mixed model. Accuracy was defined as the relative error of a tap, and variability as the deviation of the participant’s tap from group predicted relative error. Our primary finding is that the treated PD group (PD patients ‘on’ and ‘off’ dopaminergic therapy showed a significantly different pattern of accuracy compared to the de novo group and the healthy controls at the 250ms interval. At this interval, the treated PD patients performed ‘ahead’ of the beat whilst the other groups performed ‘behind’ the beat. We speculate that this ‘hastening’ relates to the clinical phenomenon of motor festination. Across all groups, variability was smallest for both phases at the 500 ms interval, suggesting an innate preference for finger tapping within this range. Tapping variability for the two phases became increasingly divergent at the longer intervals, with worse performance in the continuation phase. The data suggest that patients with PD can be best discriminated from healthy controls on measures of

  2. Modeling the spatial distribution of Chagas disease vectors using environmental variables and people´s knowledge.

    Science.gov (United States)

    Hernández, Jaime; Núñez, Ignacia; Bacigalupo, Antonella; Cattan, Pedro E

    2013-05-31

    Chagas disease is caused by the protozoan Trypanosoma cruzi, which is transmitted to mammal hosts by triatomine insect vectors. The goal of this study was to model the spatial distribution of triatomine species in an endemic area. Vector's locations were obtained with a rural householders' survey. This information was combined with environmental data obtained from remote sensors, land use maps and topographic SRTM data, using the machine learning algorithm Random Forests to model species distribution. We analysed the combination of variables on three scales: 10 km, 5 km and 2.5 km cell size grids. The best estimation, explaining 46.2% of the triatomines spatial distribution, was obtained for 5 km of spatial resolution. Presence probability distribution increases from central Chile towards the north, tending to cover the central-coastal region and avoiding areas of the Andes range. The methodology presented here was useful to model the distribution of triatomines in an endemic area; it is best explained using 5 km of spatial resolution, and their presence increases in the northern part of the study area. This study's methodology can be replicated in other countries with Chagas disease or other vectorial transmitted diseases, and be used to locate high risk areas and to optimize resource allocation, for prevention and control of vectorial diseases.

  3. Association of Climatic Variability, Vector Population and Malarial Disease in District of Visakhapatnam, India: A Modeling and Prediction Analysis.

    Science.gov (United States)

    Srimath-Tirumula-Peddinti, Ravi Chandra Pavan Kumar; Neelapu, Nageswara Rao Reddy; Sidagam, Naresh

    2015-01-01

    Malarial incidence, severity, dynamics and distribution of malaria are strongly determined by climatic factors, i.e., temperature, precipitation, and relative humidity. The objectives of the current study were to analyse and model the relationships among climate, vector and malaria disease in district of Visakhapatnam, India to understand malaria transmission mechanism (MTM). Epidemiological, vector and climate data were analysed for the years 2005 to 2011 in Visakhapatnam to understand the magnitude, trends and seasonal patterns of the malarial disease. Statistical software MINITAB ver. 14 was used for performing correlation, linear and multiple regression analysis. Perennial malaria disease incidence and mosquito population was observed in the district of Visakhapatnam with peaks in seasons. All the climatic variables have a significant influence on disease incidence as well as on mosquito populations. Correlation coefficient analysis, seasonal index and seasonal analysis demonstrated significant relationships among climatic factors, mosquito population and malaria disease incidence in the district of Visakhapatnam, India. Multiple regression and ARIMA (I) models are best suited models for modeling and prediction of disease incidences and mosquito population. Predicted values of average temperature, mosquito population and malarial cases increased along with the year. Developed MTM algorithm observed a major MTM cycle following the June to August rains and occurring between June to September and minor MTM cycles following March to April rains and occurring between March to April in the district of Visakhapatnam. Fluctuations in climatic factors favored an increase in mosquito populations and thereby increasing the number of malarial cases. Rainfall, temperatures (20°C to 33°C) and humidity (66% to 81%) maintained a warmer, wetter climate for mosquito growth, parasite development and malaria transmission. Changes in climatic factors influence malaria directly by

  4. The relationships between clinical variables and renal parenchymal disease in pediatric clinically suspected urinary tract infection

    Directory of Open Access Journals (Sweden)

    Jung Lim Byun

    2010-02-01

    Full Text Available Purpose : To evaluate the significance of clinical signs and laboratory findings as predictors of renal parenchymal lesions and vesicoureteral reflux (VUR in childhood urinary tract infection (UTI. Methods : From July 2005 to July 2008, 180 patients admitted with a first febrile UTI at the Pediatric Department of Konkuk University Hospital were included in this study. The following were the clinical variables: leukocytosis, elevated C-reactive protein (CRP, positive urine nitrite, positive urine culture, and fever duration both before and after treatment. We evaluated the relationships between clinical variables and dimercaptosuccinic acid (DMSA scan and voiding cystourethrography (VCUG results. Results : VCUG was performed in 148 patients; of them, 37 (25.0% had VUR: 18 (12.2% had low-grade (I-II VUR, and 19 (10.5% had high-grade (III-V VUR. Of the 95 patients who underwent DMSA scanning, 29 (30.5% had cortical defects, of which 21 (63.6% had VUR: 10 (30.3%, low-grade (I-II VUR; and 11 (33.3%, high-grade VUR. Of the 57 patients who were normal on DMSA scan, 8 (14.0% had low-grade VUR and 6 (10.5% had high-grade VUR. The sensitivity, specificity, and positive and negative predictive values of the DMSA scan in predicting high-grade VUR were 64.7%, 69.9%, 33.3%, and 89.5%, respectively. Leukocytosis, elevated CRP, and prolonged fever (?#243;6 hours after treatment were significantly correlated with the cortical defects on DMSA scans and high-grade VUR. Conclusion : Clinical signs, including prolonged fever after treatment, elevated CRP, and leukocytosis, are positive predictors of acute pyelonephritis and high-grade VUR.

  5. Effects of weather variability and air pollutants on emergency admissions for cardiovascular and cerebrovascular diseases.

    Science.gov (United States)

    Hori, Aya; Hashizume, Masahiro; Tsuda, Yoko; Tsukahara, Teruomi; Nomiyama, Tetsuo

    2012-01-01

    We examined the effect of ambient temperature, air pressure and air pollutants on daily emergency admissions by identifying the cause of admission for each type of stroke and cardiovascular disease using generalized linear Poisson regression models allowing for overdispersion, and controlling for seasonal and inter-annual variations, days of the week and public holidays, levels of influenza and respiratory syncytial viruses. Every 1°C decrease in mean temperature was associated with an increase in the daily number of emergency admissions by 7.83% (95% CI 2.06-13.25) for acute coronary syndrome (ACS) and heart failure, by 35.57% (95% CI 15.59-59.02) for intracerebral haemorrhage (ICH) and by 11.71% (95% CI 4.1-19.89) for cerebral infarction. An increase of emergency admissions due to ICH (3.25% (95% CI 0.94-5.51)), heart failure (3.56% (95% CI 1.09-5.96)) was observed at every 1 hPa decrease in air pressure from the previous days. We found stronger detrimental effect of cold on stroke than cardiovascular disease.

  6. Incidence Trends and Geographical Variability of Pediatric Inflammatory Bowel Disease in Slovenia: A Nationwide Study.

    Science.gov (United States)

    Urlep, Darja; Blagus, Rok; Orel, Rok

    2015-01-01

    The aims of the study were to determine the incidence rate of pediatric inflammatory bowel disease (PIBD) and its trends for the period of 2002-2010 and to assess the geographical distribution of PIBD in Slovenia. Medical records of patients (0-18 years) with newly diagnosed IBD during the study period were retrospectively reviewed. The mean incidence rate for IBD in 2002-2010 was 7.6 per 100,000 children and adolescents per year, 4.5 for Crohn's disease (CD), 2.9 for ulcerative colitis (UC), and 0.2 for IBD-unclassified, respectively. The incidence rate increased from 5.8 per 100,000 per year in 2002-2004 to 8.6 in 2005-2007 and remained stable afterwards. Statistically significant difference in the incidence rate between the Northeastern and Southwestern parts of the country was observed (p = 0.025). This nationwide study demonstrates that Slovenia is among the European countries with the highest PIBD incidence. During the study period a substantial rise of PIBD incidence was observed during the first half of the study and it seems to have stabilized in the second half. The significant difference in PIBD incidence between Northeastern and Southwestern parts of the country merits further exploration of the possible environmental factors.

  7. Robustness of reliable change indices to variability in Parkinson's disease with mild cognitive impairment.

    Science.gov (United States)

    Turner, T H; Renfroe, J B; Elm, J; Duppstadt-Delambo, A; Hinson, V K

    2016-01-01

    Ability to identify change is crucial for measuring response to interventions and tracking disease progression. Beyond psychometrics, investigations of Parkinson's disease with mild cognitive impairment (PD-MCI) must consider fluctuating medication, motor, and mental status. One solution is to employ 90% reliable change indices (RCIs) from test manuals to account for account measurement error and practice effects. The current study examined robustness of 90% RCIs for 19 commonly used executive function tests in 14 PD-MCI subjects assigned to the placebo arm of a 10-week randomized controlled trial of atomoxetine in PD-MCI. Using 90% RCIs, the typical participant showed spurious improvement on one measure, and spurious decline on another. Reliability estimates from healthy adults standardization samples and PD-MCI were similar. In contrast to healthy adult samples, practice effects were minimal in this PD-MCI group. Separate 90% RCIs based on the PD-MCI sample did not further reduce error rate. In the present study, application of 90% RCIs based on healthy adults in standardization samples effectively reduced misidentification of change in a sample of PD-MCI. Our findings support continued application of 90% RCIs when using executive function tests to assess change in neurological populations with fluctuating status.

  8. Impaired Glucose Metabolism Is Associated with Visit-to-Visit Blood Pressure Variability in Participants without Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Nobuo Sasaki

    2018-01-01

    Full Text Available We evaluated data from 10,088 participants without cardiovascular disease (CVD who underwent 75 g oral glucose tolerance tests and had more than four visits during the first 5 years following the test to investigate the association between impaired glucose metabolism and visit-to-visit blood pressure (BP variability. Participants were classified into groups of normal glucose tolerance (NGT, impaired fasting glucose (IFG, impaired glucose tolerance (IGT, and diabetes. Visit-to-visit BP variability was estimated for each individual using standard deviation (SD and coefficients of variation (CV, defined as SD/mean. SDs and CVs of systolic BP (SBP values were divided into quartiles. The samples falling in the highest quartile were considered as having high SD/CV. The adjusted odds ratio (OR for high SD of SBP in the IFG (OR, 1.39; P<0.003, IGT (OR, 1.26; P<0.001, and diabetes (OR, 1.54; P<0.001 groups was significantly higher than that for high SD of SBP in the NGT group. Similarly, the OR for high CV of SBP in the IGT and diabetes groups was significantly higher than that for high CV of SBP in the NGT group. In participants without CVD, impaired glucose metabolism may modulate visit-to-visit BP variability.

  9. Variability of Emaravirus Species Associated with Sterility Mosaic Disease of Pigeonpea in India Provides Evidence of Segment Reassortment

    Science.gov (United States)

    Patil, Basavaprabhu L.; Dangwal, Meenakshi; Mishra, Ritesh

    2017-01-01

    Sterility mosaic disease (SMD) of pigeonpea is a serious constraint for cultivation of pigeonpea in India and other South Asian countries. SMD of pigeonpea is associated with two distinct emaraviruses, Pigeonpea sterility mosaic virus 1 (PPSMV-1) and Pigeonpea sterility mosaic virus 2 (PPSMV-2), with genomes consisting of five and six negative-sense RNA segments, respectively. The recently published genome sequences of both PPSMV-1 and PPSMV-2 are from a single location, Patancheru from the state of Telangana in India. However, here we present the first report of sequence variability among 23 isolates of PPSMV-1 and PPSMV-2, collected from ten locations representing six states of India. Both PPSMV-1 and PPSMV-2 are shown to be present across India and to exhibit considerable sequence variability. Variability of RNA3 sequences was higher than the RNA4 sequences for both PPSMV-1 and PPSMV-2. Additionally, the sixth RNA segment (RNA6), previously reported to be associated with only PPSMV-2, is also associated with isolates of PPSMV-1. Multiplex reverse transcription PCR (RT-PCR) analyses show that PPSMV-1 and PPSMV-2 frequently occur as mixed infections. Further sequence analyses indicated the presence of reassortment of RNA4 between isolates of PPSMV-1 and PPSMV-2. PMID:28696402

  10. Cardiovascular disease, risk factors and heart rate variability in the elderly general population: Design and objectives of the CARdiovascular disease, Living and Ageing in Halle (CARLA Study

    Directory of Open Access Journals (Sweden)

    Kuss Oliver

    2005-11-01

    Full Text Available Abstract Background The increasing burden of cardiovascular diseases (CVD in the ageing population of industrialized nations requires an intensive search for means of reducing this epidemic. In order to improve prevention, detection, therapy and prognosis of cardiovascular diseases on the population level in Eastern Germany, it is necessary to examine reasons for the East-West gradient of CVD morbidity and mortality, potential causal mechanisms and prognostic factors in the elderly. Psychosocial and nutritional factors have previously been discussed as possible causes for the unexplained part of the East-West gradient. A reduced heart rate variability appears to be associated with cardiovascular disease as well as with psychosocial and other cardiovascular risk factors and decreases with age. Nevertheless, there is a lack of population-based data to examine the role of heart rate variability and its interaction with psychosocial and nutritional factors regarding the effect on cardiovascular disease in the ageing population. There also is a paucity of epidemiological data describing the health situation in Eastern Germany. Therefore, we conduct a population-based study to examine the distribution of CVD, heart rate variability and CVD risk factors and their associations in an elderly East German population. This paper describes the design and objectives of the CARLA Study. Methods/design For this study, a random sample of 45–80 year-old inhabitants of the city of Halle (Saale in Eastern Germany was drawn from the population registry. By the end of the baseline examination (2002–2005, 1750 study participants will have been examined. A multi-step recruitment strategy aims at achieving a 70 % response rate. Detailed information is collected on own and family medical history, socioeconomic, psychosocial, behavioural and biomedical factors. Medical examinations include anthropometric measures, blood pressure of arm and ankle, a 10-second and a 20

  11. Adjusting for sampling variability in sparse data: geostatistical approaches to disease mapping.

    Science.gov (United States)

    Hampton, Kristen H; Serre, Marc L; Gesink, Dionne C; Pilcher, Christopher D; Miller, William C

    2011-10-06

    Disease maps of crude rates from routinely collected health data indexed at a small geographical resolution pose specific statistical problems due to the sparse nature of the data. Spatial smoothers allow areas to borrow strength from neighboring regions to produce a more stable estimate of the areal value. Geostatistical smoothers are able to quantify the uncertainty in smoothed rate estimates without a high computational burden. In this paper, we introduce a uniform model extension of Bayesian Maximum Entropy (UMBME) and compare its performance to that of Poisson kriging in measures of smoothing strength and estimation accuracy as applied to simulated data and the real data example of HIV infection in North Carolina. The aim is to produce more reliable maps of disease rates in small areas to improve identification of spatial trends at the local level. In all data environments, Poisson kriging exhibited greater smoothing strength than UMBME. With the simulated data where the true latent rate of infection was known, Poisson kriging resulted in greater estimation accuracy with data that displayed low spatial autocorrelation, while UMBME provided more accurate estimators with data that displayed higher spatial autocorrelation. With the HIV data, UMBME performed slightly better than Poisson kriging in cross-validatory predictive checks, with both models performing better than the observed data model with no smoothing. Smoothing methods have different advantages depending upon both internal model assumptions that affect smoothing strength and external data environments, such as spatial correlation of the observed data. Further model comparisons in different data environments are required to provide public health practitioners with guidelines needed in choosing the most appropriate smoothing method for their particular health dataset.

  12. Adjusting for sampling variability in sparse data: geostatistical approaches to disease mapping

    Directory of Open Access Journals (Sweden)

    Pilcher Christopher D

    2011-10-01

    Full Text Available Abstract Background Disease maps of crude rates from routinely collected health data indexed at a small geographical resolution pose specific statistical problems due to the sparse nature of the data. Spatial smoothers allow areas to borrow strength from neighboring regions to produce a more stable estimate of the areal value. Geostatistical smoothers are able to quantify the uncertainty in smoothed rate estimates without a high computational burden. In this paper, we introduce a uniform model extension of Bayesian Maximum Entropy (UMBME and compare its performance to that of Poisson kriging in measures of smoothing strength and estimation accuracy as applied to simulated data and the real data example of HIV infection in North Carolina. The aim is to produce more reliable maps of disease rates in small areas to improve identification of spatial trends at the local level. Results In all data environments, Poisson kriging exhibited greater smoothing strength than UMBME. With the simulated data where the true latent rate of infection was known, Poisson kriging resulted in greater estimation accuracy with data that displayed low spatial autocorrelation, while UMBME provided more accurate estimators with data that displayed higher spatial autocorrelation. With the HIV data, UMBME performed slightly better than Poisson kriging in cross-validatory predictive checks, with both models performing better than the observed data model with no smoothing. Conclusions Smoothing methods have different advantages depending upon both internal model assumptions that affect smoothing strength and external data environments, such as spatial correlation of the observed data. Further model comparisons in different data environments are required to provide public health practitioners with guidelines needed in choosing the most appropriate smoothing method for their particular health dataset.

  13. Effects of fluid overload on heart rate variability in chronic kidney disease patients on hemodialysis.

    Science.gov (United States)

    Ferrario, Manuela; Moissl, Ulrich; Garzotto, Francesco; Cruz, Dinna N; Clementi, Anna; Brendolan, Alessandra; Tetta, Ciro; Gatti, Emanuele; Signorini, Maria G; Cerutti, Sergio; Ronco, Claudio

    2014-02-04

    While fluid overload (FO) and alterations in the autonomic nervous system (ANS) such as hypersympathetic activity, are known risk factors for cardiovascular morbidity and mortality in patients on chronic hemodialysis (HD), their relationship has not been thoroughly studied. In this observational study involving 69 patients on chronic HD, FO was assessed by whole body bioimpedance measurements before the midweek HD session and ANS activity reflected by Heart Rate Variability (HRV) was measured using 24-hour Holter electrocardiogram recordings starting before the same HD treatment. In total, 13 different HRV indices were analyzed, comprising a mixture of time domain, frequency domain and complexity parameters. A correlation analysis was performed between the HRV indices and hydration status indices. Successively, patients were retrospectively assigned to a high FO (H, FO > 2.5 L) or low FO (L, FO ≤ 2.5 L) group and these were further compared also after stratification by diabetes mellitus. Finally, a small number of patients without diabetes with significant and persistent FO were followed up for 3 months post-study to investigate how normalization of fluid status affects HRV. SDANN, VLF, LZC and HF% parameters significantly correlate with FO (correlation coefficients were respectively r = -0.40, r = -0.37, r = -0.28 and r = 0.26, p-value hydration status (correlation coefficients were respectively r = -0.31 and r = -0.33, p-value hydration status is accompanied by improved HRV.

  14. Quantitative variables associated to the resistance to sugarcane brown rust disease

    Directory of Open Access Journals (Sweden)

    Joaquin Montalvan Delgado

    2017-01-01

    Full Text Available With the purpose to analyze the behavior of a group of sugarcane cultivars in the presence of brown rust (Puccinia melanocephala Sydow and P. Sydow in the area of the Territorial Sugarcane Research Station Oriental Center Camagüey, it was carried out an experiment with 11 sugarcane cultivars (C1051-73, C132-81, C266-70, C323-68, C86-12, C86-503, C86- 56, C88-380, C90-530, Co997, SP70-1284 and six patterns of well-known reaction PR980 (I grade, Ja64-11 (II grade, C334-64 (III grade, My5514 y Ja60-5 (IV grade y B4362 (V grade. The evaluations were made at the plant and ratoon shoot at the ages of three, four, five, six and nine months in the leaves +1, +3 y +5. The evaluated parameters were: length and the number of pustules, size of the biggest pustule, and the occupied area by pustules. It was made an analysis of variance and Tukey’s test to find the differences between the cultivars. The statistical packet SPSS such as the main additive and multiplicative interactions (AMMI Models were used. There are differences in every analyzed factors (cultivar, leaf and evaluation moment and in the analyzed variables (TPM and occupied area by pustule. The resistance patterns kept the expected behavior and the biggest cultivars percentage behaved like resistant.

  15. Variables Associated With Inpatient and Outpatient Resource Utilization Among Medicare Beneficiaries With Nonalcoholic Fatty Liver Disease With or Without Cirrhosis.

    Science.gov (United States)

    Sayiner, Mehmet; Otgonsuren, Munkhzul; Cable, Rebecca; Younossi, Issah; Afendy, Mariam; Golabi, Pegah; Henry, Linda; Younossi, Zobair M

    2017-03-01

    Nonalcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver disease worldwide with tremendous clinical burden. The economic burden of NAFLD is not well studied. To assess the economic burden of NAFLD. Medicare beneficiaries (January 1, 2010 to December 31, 2010) with NAFLD diagnosis by International Classification of Diseases, Ninth Revision codes in the absence of other liver diseases were selected. Inpatient and outpatient resource utilization parameters were total charges and total provider payments. NAFLD patients with compensated cirrhosis (CC) were compared with decompensated cirrhosis (DC). A total of 976 inpatients and 4742 outpatients with NAFLD were included-87% were white, 36% male, 30% had cardiovascular disease (CVD) or metabolic syndrome conditions, and 12% had cirrhosis. For inpatients, median total hospital charge was $36,289. NAFLD patients with cirrhosis had higher charges and payments than noncirrhotic NAFLD patients ($61,151 vs. $33,863 and $18,804 vs. $10,146, P<0.001). Compared with CC, NAFLD patients with DC had higher charges and payments (P<0.02). For outpatients, median total charge was $9,011. NAFLD patients with cirrhosis had higher charges and payments than noncirrhotic NAFLD patients ($12,049 vs. $8,830 and $2,586 vs. $1,734, P<0.001). Compared with CC, DC patients had higher total charges ($15,187 vs. $10,379, P=0.04). In multivariate analysis, variables associated with increased inpatient resource utilization were inpatient mortality, DC, and CVD; for outpatients, having CVD, obesity, and hypertension (all P<0.001). NAFLD is associated with significant economic burden to Medicare. Presence of cirrhosis and CVD are associated with increased resource utilization.

  16. Particulate Air Pollution, Ambulatory Heart Rate Variability, and Cardiac Arrhythmia in Retirement Community Residents with Coronary Artery Disease

    Science.gov (United States)

    Longhurst, John; Tjoa, Thomas; Sioutas, Constantinos; Delfino, Ralph J.

    2013-01-01

    Background: Decreased heart rate variability (HRV) has been associated with future cardiac morbidity and mortality and is often used as a marker of altered cardiac autonomic balance in studies of health effects of airborne particulate matter. Fewer studies have evaluated associations between air pollutants and cardiac arrhythmia. Objectives: We examined relationships between cardiac arrhythmias, HRV, and exposures to airborne particulate matter. Methods: We measured HRV and arrhythmia with ambulatory electrocardiograms in a cohort panel study for up to 235 hr per participant among 50 nonsmokers with coronary artery disease who were ≥ 71 years of age and living in four retirement communities in the Los Angeles, California, Air Basin. Exposures included hourly outdoor gases, hourly traffic-related and secondary organic aerosol markers, and daily size-fractionated particle mass. We used repeated measures analyses, adjusting for actigraph-derived physical activity and heart rate, temperature, day of week, season, and community location. Results: Ventricular tachycardia was significantly increased in association with increases in markers of traffic-related particles, secondary organic carbon, and ozone. Few consistent associations were observed for supraventricular tachycardia. Particulates were significantly associated with decreased ambulatory HRV only in the 20 participants using ACE (angiotensin I–converting enzyme) inhibitors. Conclusions: Although these data support the hypothesis that particulate exposures may increase the risk of ventricular tachycardia for elderly people with coronary artery disease, HRV was not associated with exposure in most of our participants. These results are consistent with previous findings in this cohort for systemic inflammation, blood pressure, and ST segment depression. Citation: Bartell SM, Longhurst J, Tjoa T, Sioutas C, Delfino RJ. 2013. Particulate air pollution, ambulatory heart rate variability, and cardiac arrhythmia in

  17. Adenosine stress cardiovascular magnetic resonance with variable-density spiral pulse sequences accurately detects coronary artery disease: initial clinical evaluation.

    Science.gov (United States)

    Salerno, Michael; Taylor, Angela; Yang, Yang; Kuruvilla, Sujith; Ragosta, Michael; Meyer, Craig H; Kramer, Christopher M

    2014-07-01

    Adenosine stress cardiovascular magnetic resonance perfusion imaging can be limited by motion-induced dark-rim artifacts, which may be mistaken for true perfusion abnormalities. A high-resolution variable-density spiral pulse sequence with a novel density compensation strategy has been shown to reduce dark-rim artifacts in first-pass perfusion imaging. We aimed to assess the clinical performance of adenosine stress cardiovascular magnetic resonance using this new perfusion sequence to detect obstructive coronary artery disease. Cardiovascular magnetic resonance perfusion imaging was performed during adenosine stress (140 μg/kg per minute) and at rest on a Siemens 1.5-T Avanto scanner in 41 subjects with chest pain scheduled for coronary angiography. Perfusion images were acquired during injection of 0.1 mmol/kg Gadolinium-diethylenetriaminepentacetate at 3 short-axis locations using a saturation recovery interleaved variable-density spiral pulse sequence. Significant stenosis was defined as >50% by quantitative coronary angiography. Two blinded reviewers evaluated the perfusion images for the presence of adenosine-induced perfusion abnormalities and assessed image quality using a 5-point scale (1 [poor] to 5 [excellent]). The prevalence of obstructive coronary artery disease by quantitative coronary angiography was 68%. The average sensitivity, specificity, and accuracy were 89%, 85%, and 88%, respectively, with a positive predictive value and negative predictive value of 93% and 79%, respectively. The average image quality score was 4.4±0.7, with only 1 study with more than mild dark-rim artifacts. There was good inter-reader reliability with a κ statistic of 0.67. Spiral adenosine stress cardiovascular magnetic resonance results in high diagnostic accuracy for the detection of obstructive coronary artery disease with excellent image quality and minimal dark-rim artifacts. © 2014 American Heart Association, Inc.

  18. Prospective evaluation of human immunodeficiency virus-seropositive patients

    International Nuclear Information System (INIS)

    Post, M.J.D.; Berger, J.R.; Quencer, R.M.

    1989-01-01

    As part of a prospective longitudinal study of individuals who are human immunodeficiency virus (HIV) positive, cranial MR imaging was performed on 89 HIV-seropositive patients and correlated with clinical data. MR results were asymptomatics: MR images normal-58, abnormal-16; myelopathics: normal-seven, abnormal-four; encephalopathics: normal-three, abnormal-two. In asymptomatics, neurologic examination was positive in all with positive MR results but positive in only some with negative MR results. The authors concluded that MR imaging can show indirect evidence of HIV infection early in the disease, but abnormalities will be minor and seen only in the minority (21%) of symptomatics; these minor abnormalities may antedate clinical symptoms but not signs; an increase in severity of clinical disease correlates with increasingly severe atrophy and demyelination; and in some seropositives, whether asymptomatic or symptomatic, MR results remain normal

  19. Variability of glomerular filtration rate estimation equations in elderly Chinese patients with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Liu X

    2012-10-01

    Full Text Available Xun Liu,1,2,* Mu-hua Cheng,3,* Cheng-gang Shi,1 Cheng Wang,1 Cai-lian Cheng,1 Jin-xia Chen,1 Hua Tang,1 Zhu-jiang Chen,1 Zeng-chun Ye,1 Tan-qi Lou11Division of Nephrology, Department of Internal Medicine, The Third Affiliated Hospital of Sun Yet-sun University, Guangzhou, China; 2College of Biology Engineering, South China University of Technology, Guangzhou, China; 3Department of Nuclear Medicine, The Third Affiliated Hospital of Sun Yet-sun University, Guangzhou, China *These authors contributed equally to this paperBackground: Chronic kidney disease (CKD is recognized worldwide as a public health problem, and its prevalence increases as the population ages. However, the applicability of formulas for estimating the glomerular filtration rate (GFR based on serum creatinine (SC levels in elderly Chinese patients with CKD is limited.Materials and methods: Based on values obtained with the technetium-99m diethylenetriaminepentaacetic acid (99mTc-DTPA renal dynamic imaging method, 319 elderly Chinese patients with CKD were enrolled in this study. Serum creatinine was determined by the enzymatic method. The GFR was estimated using the Cockroft–Gault (CG equation, the Modification of Diet in Renal Disease (MDRD equations, the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI equation, the Jelliffe-1973 equation, and the Hull equation.Results: The median of difference ranged from −0.3–4.3 mL/min/1.73 m2. The interquartile range (IQR of differences ranged from 13.9–17.6 mL/min/1.73 m2. Accuracy with a deviation less than 15% ranged from 27.6%–32.9%. Accuracy with a deviation less than 30% ranged from 53.6%–57.7%. Accuracy with a deviation less than 50% ranged from 74.9%–81.5%. None of the equations had accuracy up to the 70% level with a deviation less than 30% from the standard glomerular filtration rate (sGFR. Bland–Altman analysis demonstrated that the mean difference ranged from −3.0–2.4 mL/min/1.73 m2. However, the

  20. Fine-scale geographic variations of inflammatory bowel disease in France: correlation with socioeconomic and house equipment variables.

    Science.gov (United States)

    Nerich, Virginie; Monnet, Elisabeth; Weill, Alain; Vallier, Nathalie; Vanbockstael, Vincent; Auleley, Guy-Robert; Balaire, Corine; Dubost, Patrick; Rican, Stéphane; Allemand, Hubert; Carbonnel, Franck

    2010-05-01

    In a previous study we found a north-south gradient for Crohn's disease (CD) incidence in France. The aim of the present study was to determine if socioeconomic factors may influence the geographic distribution of CD and ulcerative colitis (UC) in France. Using the national health insurance databases, incidence rates of CD and UC were estimated for each of 341 metropolitan "job areas" in 2000-2002. Relationships between incidence rates and relevant contextual variables from the 1999 French census were tested for significance using a Poisson regression. Mapping of smoothed relative risks (sRR) for CD and UC at the scale of job areas, using a Bayesian approach and adjusting for significant contextual variables, was carried out in order to search for geographic variations. CD incidence rates were negatively related to the percentage of farmers and to the percentage of housing with bathroom and toilets and positively related to the unemployment rate and to the percentage of households below the poverty threshold. Mapping of sRR for CD showed a clear north-south gradient, which was slightly improved after including the percentage of farmers and the percentage of housing with toilets. In UC we found no significant correlation between either incidence and socioeconomic variables or incidence and house equipment variables, and there was no north-south gradient. However, there was a positive and significant correlation between CD and UC incidence. The present study shows that geographic risk factors of CD in France are northern latitude, nonrural areas, and areas with poor sanitary house equipment. Among these factors the most important is northern latitude.

  1. Respiratory Syncytial Virus Disease Is Mediated by Age-Variable IL-33.

    Directory of Open Access Journals (Sweden)

    Jordy Saravia

    2015-10-01

    Full Text Available Respiratory syncytial virus (RSV is the most common cause of infant hospitalizations and severe RSV infections are a significant risk factor for childhood asthma. The pathogenic mechanisms responsible for RSV induced immunopathophysiology remain elusive. Using an age-appropriate mouse model of RSV, we show that IL-33 plays a critical role in the immunopathogenesis of severe RSV, which is associated with higher group 2 innate lymphoid cells (ILC2s specifically in neonates. Infection with RSV induced rapid IL-33 expression and an increase in ILC2 numbers in the lungs of neonatal mice; this was not observed in adult mice. Blocking IL-33 with antibodies or using an IL-33 receptor knockout mouse during infection was sufficient to inhibit RSV immunopathogenesis (i.e., airway hyperresponsiveness, Th2 inflammation, eosinophilia, and mucus hyperproduction; whereas administration of IL-33 to adult mice during RSV infection was sufficient to induce RSV disease. Additionally, elevated IL-33 and IL-13 were observed in nasal aspirates from infants hospitalized with RSV; these cytokines declined during convalescence. In summary, IL-33 is necessary, either directly or indirectly, to induce ILC2s and the Th2 biased immunopathophysiology observed following neonatal RSV infection. This study provides a mechanism involving IL-33 and ILC2s in RSV mediated human asthma.

  2. Variability of disease activity in patients treated with ranibizumab for neovascular age-related macular degeneration.

    Science.gov (United States)

    Enders, P; Scholz, P; Muether, P S; Fauser, S

    2016-08-01

    PurposeTo analyze choroidal neovasularization (CNV) activity and recurrence patterns in patients with neovascular age-related macular degeneration (nAMD) treated with ranibizumab, and the correlation with individual intraocular vascular endothelial growth factor (VEGF) suppression time (VST).MethodsPost-hoc analysis of data from a prospective, non-randomized clinical study. Patients with nAMD treated with ranibizumab on a pro re nata regimen. Disease activity was analyzed monthly by spectral-domain optical coherence tomography and correlated with VSTs.ResultsOverall, 73 eyes of 73 patients were included in the study with a mean follow-up of 717 days (range: 412-1239 days). Overall, the mean CNV-activity-free interval was 76.5 days (range: 0-829 days). The individual range of the length of dry intervals was high. A total of 42% of patients had a range of more than 90 days. Overall, 16% of patients showed persistent activity. And 12% stayed dry after the initial ranibizumab treatment. No significant correlation was found between the CNV-recurrence pattern and VST (P=0.12).ConclusionsCNV activity in nAMD is irregular, which is reflected in the range of the duration of dry intervals and late recurrences. The biomarker VST solely seems not to be sufficient to explain recurrence pattern of CNV in all AMD patients.

  3. CCR5 Signal Transduction in Macrophages by Human Immunodeficiency Virus and Simian Immunodeficiency Virus Envelopes

    OpenAIRE

    Arthos, James; Rubbert, Andrea; Rabin, Ronald L.; Cicala, Claudia; Machado, Elizabeth; Wildt, Kathryne; Hanbach, Meredith; Steenbeke, Tavis D.; Swofford, Ruth; Farber, Joshua M.; Fauci, Anthony S.

    2000-01-01

    The capacity of human immunodeficiency virus (HIV) and simian immunodeficiency virus (SIV) envelopes to transduce signals through chemokine coreceptors on macrophages was examined by measuring the ability of recombinant envelope proteins to mobilize intracellular calcium stores. Both HIV and SIV envelopes mobilized calcium via interactions with CCR5. The kinetics of these responses were similar to those observed when macrophages were treated with MIP-1β. Distinct differences in the capacity o...

  4. Seroprevalence and Risk Factors for Human Immunodeficiency ...

    African Journals Online (AJOL)

    This study sought to determine the seroprevalence of human immunodeficiency virus (HIV), hepatitis C virus (HCV), and hepatitis B surface antigen (HBsAg) among blood donors at Bolga-tanga Regional Hospital, Ghana by blood group type, sex and age and also determining the asso-ciation, if any, in the occurrence of the ...

  5. Seroprevalence of Helicobacter pylori in human immunodeficiency ...

    African Journals Online (AJOL)

    Background: This study assessed the seroprevalence of Helicobacter pylori antibodies among Iranian patients with human immunodeficiency virus (HIV) infection. It also examines whether anti H. pylori seroprevalence was associated with the severity of the HIV infection or the antiretroviral treatment. Material and Methods: ...

  6. Human Immunodeficiency Virus (HIV) Seropositivity In African ...

    African Journals Online (AJOL)

    A seroprevalence study of Human immunodeficiency virus (HIV) infection in new patients attending the eye clinic of LAUTECH Teaching Hospital in Osogbo, Osun State, Nigeria showed that twenty-nine patients 2.7%) were positive to HIV1. No patient was positive to HIV 2. There were 21 males (72.4%) and 8 females ...

  7. Post exposure prophylaxis against human immunodeficiency virus ...

    African Journals Online (AJOL)

    Objective: To determine the level of awareness, knowledge and practice of human immunodeficiency virus post exposure prophylaxis (HIV PEP) among paediatricians in Nigeria. Methodology: The study was a cross sectional questionnairebased survey conducted among paediatrcians that attended the Paediatric ...

  8. Post exposure prophylaxis against human immunodeficiency virus ...

    African Journals Online (AJOL)

    2015-11-23

    Nov 23, 2015 ... Abstract: Objective: To deter- mine the level of awareness, knowledge and practice of human immunodeficiency virus post ex- posure prophylaxis (HIV PEP) among paediatricians in Nigeria. Methodology: The study was a cross sectional questionnaire- based survey conducted among paediatrcians that ...

  9. Mitochondrial dysfunction and human immunodeficiency virus ...

    African Journals Online (AJOL)

    Human immunodeficiency virus (HIV) infection and the pharmacological treatment thereof have both been shown to affect mitochondrial function in a number of tissues, and each may cause specific organ pathology through specific mitochondrial pathways. HIV has been shown to kill various tissue cells by activation of ...

  10. Comparative periodontal status of human immunodeficiency virus ...

    African Journals Online (AJOL)

    Background: There are diverse reports on the prevalence and severity of chronic periodontitis in human immunodeficiency virus (HIV) positive persons. Few studies have been carried out in developing countries in Sub.Saharan Africa. This study was aimed at comparing the prevalence and severity of chronic periodontitis of ...

  11. Transurethral prostatectomy in human immunodeficiency virus ...

    African Journals Online (AJOL)

    A 63-year old man was admitted to our Hospital with urethral catheter in situ and having failed medical therapy, he opted for transurethral prostatectomy (TURP) which was done without any post-operative complication. He was known to be afflicted with human immunodeficiency virus and on treatment for 3 years. He also ...

  12. Nigerian dental technology students and human immunodeficiency ...

    African Journals Online (AJOL)

    Background: The rehabilitative dental care is important for maintaining adequate nutrition, guarding against wasting syndrome and malnutrition among human immunodeficiency virus (HIV)‑infected individuals. Aim: The aim of this study is to determine the Nigerian dental technology students' knowledge and ...

  13. The biology of human immunodeficiency virus infection.

    Science.gov (United States)

    Kotler, Donald P

    2004-08-01

    The aim of this article is to review the basic biology of infection with HIV-1 and the development of the acquired immunodeficiency syndrome. The discussion will include epidemiology, general description of the retroviruses, pathogenesis of the immune deficiency, clinical consequences, treatment, and treatment outcomes. Aspects of the infection that affect protein and energy balance will be identified.

  14. New clinical and histological patterns of acute disseminated histoplasmosis in human immunodeficiency virus-positive patients with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Ollague Sierra, Jose E; Ollague Torres, Jose M

    2013-04-01

    Histoplasmosis has attained increasing relevance in the past 3 decades because of the appearance of the human immunodeficiency virus (HIV). In most immunocompetent persons, the infection is asymptomatic or can produce a respiratory condition with symptoms and radiological images similar to those observed in pulmonary tuberculosis; in non-HIV+ immunocompromised patients, it can cause respiratory symptoms or evolve into a disseminated infection. The same can occur in acquired immunodeficiency syndrome (AIDS) patients. We have observed a series of HIV+ patients with AIDS who presented with cutaneous histoplasmosis and in whom the clinical and histopathological features were highly unusual, including variable mucocutaneous lesions that were difficult to diagnose clinically. These patients displayed unusual, previously undescribed, histological patterns, including lichenoid pattern, nodular pseudomyxoid pattern, pyogenic granuloma-like pattern, perifollicular pattern, and superficial (S), mid (M), and deep perivascular dermatitis; and more commonly encountered patterns, such as histiocytic lobular panniculitis and focal nodular dermatitis. The novel histopathological patterns of cutaneous involvement by histoplasmosis seen in these patients resembled other common inflammatory and infectious conditions and required a high level of suspicion and the application of special stains for organisms for confirmation. These new, clinical, and histological findings do not seem to be commonly encountered in HIV- patients infected with the fungus but seem to be displayed most prominently in HIV+ patients with AIDS.

  15. Exploring the variability in Behçet's disease prevalence: a meta-analytical approach.

    Science.gov (United States)

    Maldini, Carla; Druce, Katie; Basu, Neil; LaValley, Michael P; Mahr, Alfred

    2018-01-01

    Surveys of Behçet's disease (BD) have shown substantial geographic variations in prevalence, but some of these differences may result from methodological inconsistencies. This meta-analysis explored the effect of geographic location and study methodology on the prevalence of BD. We systematically searched the literature in electronic databases and by handsearching to identify population-based prevalence surveys of BD. Studies were eligible if they provided an original population-based prevalence estimate for BD with the number of prevalent cases identified in the study area. Pooled prevalence proportions across all studies were computed by using random effects models based on a Poisson normal distribution. Pre-defined subgroup analyses and meta-regression were used to investigate the effect of covariates on the prevalence proportions. We included 45 reports published from 1974 to 2015 and covering worldwide areas. The pooled estimates of prevalence proportions (expressed as cases/100 000 inhabitants) were 10.3 (95% CI 6.1, 17.7) for all studies and 119.8 (59.8, 239.9) for Turkey, 31.8 (12.9, 78.4) for the Middle East, 4.5 (2.2, 9.4) for Asia and 3.3 (2.1, 5.2) for Europe. Subgroup analyses showed a strikingly greater prevalence for studies with a sample survey design than a census design [82.5 (95% CI 47.3, 143.9) vs 3.6 (2.6, 5.1)]. Metaregression identified study design as an independent covariate significantly affecting BD prevalence proportions. Differences in BD prevalence proportions likely reflect a combination of true geographic variation and methodological artefacts. In particular, use of a sample or census study design may strongly affect the estimated prevalence. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  16. Allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies: Hospital Israelita Albert Einstein experience.

    Science.gov (United States)

    Fernandes, Juliana Folloni; Kerbauy, Fabio Rodrigues; Ribeiro, Andreza Alice Feitosa; Kutner, Jose Mauro; Camargo, Luis Fernando Aranha; Stape, Adalberto; Troster, Eduardo Juan; Zamperlini-Netto, Gabriele; Azambuja, Alessandra Milani Prandini de; Carvalho, Bruna; Dorna, Mayra de Barros; Vilela, Marluce Dos Santos; Jacob, Cristina Miuki Abe; Costa-Carvalho, Beatriz Tavares; Cunha, Jose Marcos; Carneiro-Sampaio, Magda Maria; Hamerschlak, Nelson

    2011-06-01

    To report the experience of a tertiary care hospital with allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies. Seven pediatric patients with primary immunodeficiencies (severe combined immunodeficiency: n = 2; combined immunodeficiency: n = 1; chronic granulomatous disease: n = 1; hyper-IgM syndrome: n = 2; and IPEX syndrome: n = 1) who underwent eight hematopoietic stem cell transplants in a single center, from 2007 to 2010, were studied. Two patients received transplants from HLA-identical siblings; the other six transplants were done with unrelated donors (bone marrow: n = 1; cord blood: n = 5). All patients had pre-existing infections before hematopoietic stem cell transplants. One patient received only anti-thymocyte globulin prior to transplant, three transplants were done with reduced intensity conditioning regimens and four transplants were done after myeloablative therapy. Two patients were not evaluated for engraftment due to early death. Three patients engrafted, two had primary graft failure and one received a second transplant with posterior engraftment. Two patients died of regimen related toxicity (hepatic sinusoidal obstruction syndrome); one patient died of progressive respiratory failure due to Parainfluenza infection present prior to transplant. Four patients are alive and well from 60 days to 14 months after transplant. Patients' status prior to transplant is the most important risk factor on the outcome of hematopoietic stem cell transplants in the treatment of these diseases. Early diagnosis and the possibility of a faster referral of these patients for treatment in reference centers may substantially improve their survival and quality of life.

  17. Capturing public interest toward new tools for controlling human immunodeficiency virus (HIV) infection exploiting data from Google Trends.

    Science.gov (United States)

    Mahroum, Naim; Bragazzi, Nicola Luigi; Brigo, Francesco; Waknin, Roy; Sharif, Kassem; Mahagna, Hussein; Amital, Howard; Watad, Abdulla

    2018-04-01

    Human immunodeficiency virus vaccination and pre-exposure prophylaxis represent two different emerging preventive tools. Google Trends was used to assess the public interest toward these tools in terms of digital activities. Worldwide web searches concerning the human immunodeficiency virus vaccine represented 0.34 percent, 0.03 percent, and 46.97 percent of human immunodeficiency virus, acquired immune deficiency syndrome, and human immunodeficiency virus/acquired immune deficiency syndrome treatment-related Google Trends queries, respectively. Concerning temporal trends, digital activities were shown to increase from 0 percent as of 1 January 2004 percent to 46 percent as of 8 October 2017 with two spikes observed in May and July 2012, coinciding with the US Food and Drug Administration approval. Bursts in search number and volume were recorded as human immunodeficiency virus vaccine trials emerged. This search topic has decreased in the past decade in parallel to the increase in Truvada-related topics. Concentrated searches were noticed among African countries with high human immunodeficiency virus/acquired immune deficiency syndrome prevalence. Stakeholders should take advantage of public interest especially in preventive medicine in high disease burden countries.

  18. Approach to a child with primary immunodeficiency made simple

    Directory of Open Access Journals (Sweden)

    Dhrubajyoti Sharma

    2017-01-01

    Full Text Available Primary immunodeficiency disorders (PIDs are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood. Clinically, this group of disorders can involve any organ system of an individual such as respiratory system, gastrointestinal system, skin and mucous membrane, bone and joints, endocrine organs, and nervous system. Common dermatological manifestations include eczema, warts, molluscum contagiosum, mucocutaneous candidiasis, recurrent nonhealing ulcers, skin abscesses, erythroderma, petechiae, and nail changes. The common skin manifestations of various PIDs include eczema (seen in Wiskott–Aldrich syndrome and autosomal dominant hyper IgE syndrome; erythroderma (in Omen syndrome; viral warts or molluscum contagiosum (in autosomal recessive hyper IgE syndrome; chronic mucocutaneous candidiasis (in hyper IgE syndrome, autoimmune polyendocrinopathy candidiasis ectodermal dysplasia syndrome, Th17 cell defects; recurrent nonhealing ulcers (in leucocyte adhesion defect; skin abscesses (in antibody defects, hyper IgE syndrome, and chronic granulomatous disease; petechial or purpuric spots (in Wiskott–Aldrich syndrome.

  19. Amyloidosis in association with spontaneous feline immunodeficiency virus infection.

    Science.gov (United States)

    Asproni, Pietro; Abramo, Francesca; Millanta, Francesca; Lorenzi, Davide; Poli, Alessandro

    2013-04-01

    Tissues from 34 naturally feline immunodeficiency virus (FIV)-infected cats, 13 asymptomatic cats and 21 cats with signs of feline acquired immunodeficiency syndrome (F-AIDS), and 35 FIV-seronegative subjects were examined to determine the presence of amyloid deposits. Twenty experimentally FIV-infected cats and five specific pathogen-free (SPF) control cats were also included in the study. Paraffin-embedded sections from kidney and other organs were submitted to histological and histochemical analysis. Amyloid deposits were identified by a modified Congo red stain and confirmed by electron microscopy to demonstrate the presence of amyloid fibrils in amyloid positive glomeruli. In all positive cases, secondary amyloidosis was identified with potassium permanganate pretreatment and amyloid type was further characterised by immunohistochemistry using primary antibodies against human AA and feline AL amyloids. Amyloid deposits were present in different tissues of 12/34 (35%) naturally FIV-infected cats (seven presenting F-AIDS and five in asymptomatic phase) and in 1/30 FIV-seronegative cats. All the experimentally FIV-infected and SPF subjects showed no amyloid deposits. Amyloidosis has been reported in human lentiviral infections, and the data reported here demonstrate the need, in naturally FIV-infected cats, to consider the presence of amyloidosis in differential diagnosis of hepatic and renal disorders to better assess the prognosis of the disease.

  20. Clinical variables related to small bowel obstruction: comparison of patients with and without Crohn’s disease

    Directory of Open Access Journals (Sweden)

    Awad Al Qahtani

    2012-06-01

    Full Text Available Small bowel obstruction is a known complication of Crohn’s disease. Determining need for operation is a demanding task. The aim of this study was to fine tune the decision-making process by evaluating standard clinical and laboratory parameters in small bowel obstruction of any cause and compare etiologies. Consecutive patients with Crohn’s disease and small bowel obstruction were selected retrospectively and compared to a randomly selected group of non Crohn’s patients with obstruction over a 9 year period. Twenty-two clinical, laboratory and radiological variables were assessed for the following outcomes: i diagnosis of Crohn’s; ii operative or non operative treatment in Crohn’s; iii operative or non operative treatment without Crohn’s; iv exacerbation or adhesions causing obstruction among Crohn’s patients. Multivariable models were developed for each outcome using logistic regression. Age less than 50, history of smoking, Jewish ethnicity, white count >11x10E9, neutrophils >7.5x10E9 and platelet volume <9.9 fL, supported the diagnosis of Crohn’s disease. Operation in Crohn’s disease within the same admission was associated with a history of smoking, temperature >38˚, high pulse >100, leukocytosis (>11x10E9 and obstruction on abdominal scan, while operation in patients without Crohn’s in the sentinel admission, was associated with temperature >38˚, tachycardia, leukocytosis (>11x10E9 and previous operation. Confirmation of these predictive patterns in a validation group could help in clinical decisions regarding therapeutic options in an emergency setting.

  1. Using k-dependence causal forest to mine the most significant dependency relationships among clinical variables for thyroid disease diagnosis.

    Directory of Open Access Journals (Sweden)

    LiMin Wang

    Full Text Available Numerous data mining models have been proposed to construct computer-aided medical expert systems. Bayesian network classifiers (BNCs are more distinct and understandable than other models. To graphically describe the dependency relationships among clinical variables for thyroid disease diagnosis and ensure the rationality of the diagnosis results, the proposed k-dependence causal forest (KCF model generates a series of submodels in the framework of maximum spanning tree (MST and demonstrates stronger dependence representation. Friedman test on 12 UCI datasets shows that KCF has classification accuracy advantage over the other state-of-the-art BNCs, such as Naive Bayes, tree augmented Naive Bayes, and k-dependence Bayesian classifier. Our extensive experimental comparison on 4 medical datasets also proves the feasibility and effectiveness of KCF in terms of sensitivity and specificity.

  2. HAND-FOOT-AND-MOUTH DISEASE EPIDEMIOLOGICAL STATUS AND RELATIONSHIP WITH METEOROLOGICAL VARIABLES IN GUANGZHOU, SOUTHERN CHINA, 2008-2012

    Directory of Open Access Journals (Sweden)

    Tiegang Li

    2014-12-01

    Full Text Available Hand-foot-and-mouth disease (HFMD is becoming one of the extremely common airborne and contact transmission diseases in Guangzhou, southern China, leading public health authorities to be concerned about its increased incidence. In this study, it was used an ecological study plus the negative binomial regression to identify the epidemic status of HFMD and its relationship with meteorological variables. During 2008-2012, a total of 173,524 HFMD confirmed cases were reported, 12 cases of death, yielding a fatality rate of 0.69 per 10,000. The annual incidence rates from 2008 to 2012 were 60.56, 132.44, 311.40, 402.76, and 468.59 (per 100,000, respectively, showing a rapid increasing trend. Each 1 °C rise in temperature corresponded to an increase of 9.47% (95% CI 9.36% to 9.58% in the weekly number of HFMD cases, while a one hPa rise in atmospheric pressure corresponded to a decrease in the number of cases by 7.53% (95% CI -7.60% to -7.45%. Similarly, each one percent rise in relative humidity corresponded to an increase of 1.48% or 3.3%, and a one meter per hour rise in wind speed corresponded to an increase of 2.18% or 4.57%, in the weekly number of HFMD cases, depending on the variables considered in the model. These findings revealed that epidemic status of HFMD in Guangzhou is characterized by high morbidity but low fatality. Weather factors had a significant influence on the incidence of HFMD.

  3. Variability of resting energy expenditure in infants and young children with intestinal failure-associated liver disease.

    Science.gov (United States)

    Duro, Debora; Mitchell, Paul D; Mehta, Nilesh M; Bechard, Lori J; Yu, Yong-Ming; Jaksic, Tom; Duggan, Christopher

    2014-05-01

    The aim of the study was to determine, in a cohort of young children with intestinal failure (IF), whether the estimates of basal metabolic rate (BMR) by standard equations can approximate measured resting energy expenditure (REE) by indirect calorimetry (IC). IC was performed using the dilutional canopy technique. REE measurements were compared with standard, age-based estimation equations (World Health Organization) for BMR. Subjects were classified as hypermetabolic (REE > 110% BMR), hypometabolic (REE BMR), or normal (REE = 90%-110% BMR). Twenty-eight IF patients (11 girls, 17 boys) had an underlying diagnosis of necrotizing enterocolitis (n = 10) or a congenital gastrointestinal defect (n = 18). Median age was 5.3 months. Median interquartile range (IQR) REE was 46 (42-58) kcal · kg · day. Median (IQR) total energy intake provided 209% (172%-257%) of REE, with parenteral nutrition providing 76% (23%) of total energy intake. REE was variable, with 39% (n = 11) of measurements hypermetabolic, 39% (n = 11) hypometabolic, and the remaining 21% (n = 6) normal. Although REE was well correlated with estimated BMR (r = 0.82, P BMR was not consistently an adequate predictor of REE. BMR over- or underestimated REE by >10 kcal · kg · day in 15 of 28 (54%) patients. REE was not significantly correlated with severity of liver disease, nutritional status, total energy intake, or gestational age. Energy expenditure is variable among children with IF and IF-associated liver disease, with approximately 80% of our cohort exhibiting either hypo- or hypermetabolism. Standard estimation equations frequently do not correctly predict individual REE. Longitudinal studies of energy expenditure and body composition may be needed to guide provision of nutrition regimens.

  4. Hand-foot-and-mouth disease epidemiological status and relationship with meteorological variables in Guangzhou, southern China, 2008-2012.

    Science.gov (United States)

    Li, Tiegang; Yang, Zhicong; Liu, Xiangyi; Kang, Yan; Wang, Ming

    2014-01-01

    Hand-foot-and-mouth disease (HFMD) is becoming one of the extremely common airborne and contact transmission diseases in Guangzhou, southern China, leading public health authorities to be concerned about its increased incidence. In this study, it was used an ecological study plus the negative binomial regression to identify the epidemic status of HFMD and its relationship with meteorological variables. During 2008-2012, a total of 173,524 HFMD confirmed cases were reported, 12 cases of death, yielding a fatality rate of 0.69 per 10,000. The annual incidence rates from 2008 to 2012 were 60.56, 132.44, 311.40, 402.76, and 468.59 (per 100,000), respectively, showing a rapid increasing trend. Each 1 °C rise in temperature corresponded to an increase of 9.47% (95% CI 9.36% to 9.58%) in the weekly number of HFMD cases, while a one hPa rise in atmospheric pressure corresponded to a decrease in the number of cases by 7.53% (95% CI -7.60% to -7.45%). Similarly, each one percent rise in relative humidity corresponded to an increase of 1.48% or 3.3%, and a one meter per hour rise in wind speed corresponded to an increase of 2.18% or 4.57%, in the weekly number of HFMD cases, depending on the variables considered in the model. These findings revealed that epidemic status of HFMD in Guangzhou is characterized by high morbidity but low fatality. Weather factors had a significant influence on the incidence of HFMD.

  5. Sputum microbiome temporal variability and dysbiosis in chronic obstructive pulmonary disease exacerbations: an analysis of the COPDMAP study.

    Science.gov (United States)

    Wang, Zhang; Singh, Richa; Miller, Bruce E; Tal-Singer, Ruth; Van Horn, Stephanie; Tomsho, Lynn; Mackay, Alexander; Allinson, James P; Webb, Adam J; Brookes, Anthony J; George, Leena M; Barker, Bethan; Kolsum, Umme; Donnelly, Louise E; Belchamber, Kylie; Barnes, Peter J; Singh, Dave; Brightling, Christopher E; Donaldson, Gavin C; Wedzicha, Jadwiga A; Brown, James R

    2018-04-01

    Recent studies suggest that lung microbiome dysbiosis, the disease associated disruption of the lung microbial community, might play a key role in chronic obstructive pulmonary disease (COPD) exacerbations. However, characterising temporal variability of the microbiome from large longitudinal COPD cohorts is needed to better understand this phenomenon. We performed a 16S ribosomal RNA survey of microbiome on 716 sputum samples collected longitudinally at baseline and exacerbations from 281 subjects with COPD at three UK clinical centres as part of the COPDMAP consortium. The microbiome composition was similar among centres and between stable and exacerbations except for a small significant decrease of Veillonella at exacerbations. The abundance of Moraxella was negatively associated with bacterial alpha diversity. Microbiomes were distinct between exacerbations associated with bacteria versus eosinophilic airway inflammation. Dysbiosis at exacerbations, measured as significant within subject deviation of microbial composition relative to baseline, was present in 41% of exacerbations. Dysbiosis was associated with increased exacerbation severity indicated by a greater fall in forced expiratory volume in one second, forced vital capacity and a greater increase in CAT score, particularly in exacerbations with concurrent eosinophilic inflammation. There was a significant difference of temporal variability of microbial alpha and beta diversity among centres. The variation of beta diversity significantly decreased in those subjects with frequent historical exacerbations. Microbial dysbiosis is a feature of some exacerbations and its presence, especially in concert with eosinophilic inflammation, is associated with more severe exacerbations indicated by a greater fall in lung function. Results, NCT01620645. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless

  6. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

    DEFF Research Database (Denmark)

    Abolhassani, Hassan; Edwards, Emily S. J.; Ikinciogullari, Aydan

    2017-01-01

    In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma...... is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70-CD27 interactions therefore play a nonredundant role in T and B cell-mediated immunity, especially for protection against EBV and humoral immunity....

  7. The impact of major depression on heart rate variability and endothelial dysfunction in patients with stable coronary artery disease.

    Science.gov (United States)

    Aydin Sunbul, Esra; Sunbul, Murat; Gulec, Huseyin

    Depression is an independent risk factor in cardiovascular diseases. Changes in the cardiac autonomic functions and pro-inflammatory processes are potential biological factors. Endothelial dysfunction plays an important role in the etiopathogenesis of atherosclerosis. Our objective was to evaluate the impact of major depression on heart rate variability and endothelial dysfunction in patients with stable CAD. The study group included 65 CAD patients with a diagnosis of major depression and 54 CAD patients without major depression. All study population underwent transthoracic echocardiography, measurement of flow mediated dilatation (FMD) and 24-h holter recording for heart rate variability (HRV). Blood samples were drawn to determine the inflammatory parameters. Severity of depressive episode was assessed by Montgomery-Asberg Depression Scale (MADRS). The distribution of age and sex was similar in the patient and control groups (P=0.715, 0.354, respectively). There was no significant difference in medications used between the groups. Echocardiographic parameters were similar between the groups. Inflammatory parameters were also similar between the groups. HRV parameters were significantly lower in the patient group than controls. The absolute FMD value and percentage FMD were significantly lower in the patient group than controls (Pgender (Pgender. Clinician should pay more attention for evaluation of depressive patients with CAD. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Association of glycemic variability and the presence and severity of coronary artery disease in patients with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Zheng Hong

    2011-02-01

    Full Text Available Abstract Background Glucose variability is one of components of the dysglycemia in diabetes and may play an important role in development of diabetic vascular complications. The objective of this study was to assess the relationship between glycemic variability determined by a continuous glucose monitoring (CGM system and the presence and severity of coronary artery disease (CAD in patients with type 2 diabetes mellitus (T2DM. Methods In 344 T2DM patients with chest pain, coronary angiography revealed CAD (coronary stenosis ≥ 50% luminal diameter narrowing in 252 patients and 92 patients without CAD. Gensini score was used to assess the severity of CAD. All participants' CGM parameters and biochemical characteristics were measured at baseline. Results Diabetic patients with CAD were older, and more were male and cigarette smokers compared with the controls. Levels of the mean amplitude of glycemic excursions (MAGE (3.7 ± 1.4 mmol/L vs. 3.2 ± 1.2 mmol/L, p 1c (HbA1c, hs-CRP and total cholesterol (TC. Multivariate analysis indicated that age (p 1c (p = 0.022 and hs-CRP (p = 0.005 were independent determinants for Gensini score. Logistic regression analysis revealed that MAGE ≥ 3.4 mmol/L was an independent predictor for CAD. The area under the receiver-operating characteristic curve for MAGE (0.618, p = 0.001 was superior to that for HbA1c (0.554, p = 0.129. Conclusions The intraday glycemic variability is associated with the presence and severity of CAD in patients with T2DM. Effects of glycemic excursions on vascular complications should not be neglected in diabetes.

  9. Genome variability of foot-and-mouth disease virus during the short period of the 2010 epidemic in Japan.

    Science.gov (United States)

    Nishi, Tatsuya; Yamada, Manabu; Fukai, Katsuhiko; Shimada, Nobuaki; Morioka, Kazuki; Yoshida, Kazuo; Sakamoto, Kenichi; Kanno, Toru; Yamakawa, Makoto

    2017-02-01

    Foot-and-mouth disease virus (FMDV) is highly contagious and has a high mutation rate, leading to extensive genetic variation. To investigate how FMDV genetically evolves over a short period of an epidemic after initial introduction into an FMD-free area, whole L-fragment sequences of 104 FMDVs isolated from the 2010 epidemic in Japan, which continued for less than three months were determined and phylogenetically and comparatively analyzed. Phylogenetic analysis of whole L-fragment sequences showed that these isolates were classified into a single group, indicating that FMDV was introduced into Japan in the epidemic via a single introduction. Nucleotide sequences of 104 virus isolates showed more than 99.56% pairwise identity rates without any genetic deletion or insertion, although no sequences were completely identical with each other. These results indicate that genetic substitutions of FMDV occurred gradually and constantly during the epidemic and generation of an extensive mutant virus could have been prevented by rapid eradication strategy. From comparative analysis of variability of each FMDV protein coding region, VP4 and 2C regions showed the highest average identity rates and invariant rates, and were confirmed as highly conserved. In contrast, the protein coding regions VP2 and VP1 were confirmed to be highly variable regions with the lowest average identity rates and invariant rates, respectively. Our data demonstrate the importance of rapid eradication strategy in an FMD epidemic and provide valuable information on the genome variability of FMDV during the short period of an epidemic. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  10. Glycemic variability is an independent predictive factor for development of hepatic fibrosis in nonalcoholic fatty liver disease.

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    Motoi Hashiba

    Full Text Available Patients with nonalcoholic fatty liver disease (NAFLD and nonalcoholic steatohepatitis (NASH often have metabolic disorders including insulin resistance and type 2 diabetes mellitus (T2DM. We clarified the predictive factors in glucose metabolism for progression of hepatic fibrosis in patients with NAFLD by the 75-g oral glucose tolerance test (75gOGTT and a continuous glucose monitoring system (CGMS. One hundred sixty-nine patients (68 female and 101 male patients with biopsy-proven NAFLD with performance with 75gOGTT were enrolled and divided into four groups according to the stage of hepatic fibrosis (F0-3. The proportion of patients with T2DM significantly gradually increased, HbA1c and the homeostasis model assessment of insulin resistance were significantly elevated, and 1,5-anhydroglucitol (1,5-AG was remarkably decreased with the progression of fibrosis. In the 75gOGTT, both plasma glucose and insulin secretion were remarkably increased with the progression of fibrosis. The only factor significantly associated with advanced fibrosis was 1,5-AG (P = 0.008 as determined by multivariate logistic regression analysis. We next evaluated the changes in blood glucose during 24 hours by monitoring with the CGMS to confirm the relationship between glycemic variability and progression of fibrosis. Variability of median glucose, standard deviation of median glucose (P = 0.0022, maximum blood glucose (P = 0.0019, and ΔMin-max blood glucose (P = 0.0029 were remarkably higher in severe fibrosis than in mild fibrosis.Hyperinsulinemia and hyperglycemia, especially glycemic variability, are important predictive factors in glucose impairment for the progression of hepatic fibrosis in NAFLD.

  11. Changing patterns of human immunodeficiency virus-associated neuropathology

    Directory of Open Access Journals (Sweden)

    Gray Francoise

    2007-01-01

    Full Text Available This paper describes the evolution of the pathogenic concepts associated with the infection by the human immunodeficiency virus (HIV, with emphasis to the pathology of the nervous system. Although the first description of damage to the nervous system in the acquired immunodeficiency syndrome (AIDS only appeared in 1982, the dramatic diffusion of the epidemic worldwide, as well as the invariably rapidly fatal outcome of the disease before the introduction of efficient treatment, generated from the beginning an enormous amount of research and re-thinking on a number of pathogenetic concepts. Less than 25 years after the first autopsy series on AIDS patients were published and the virus responsible for AIDS was identified, satisfactory definition and classification of a number of neuropathological complications of HIV infection have been established. This has led to the establishment of accurate clinical and biological diagnosis of the main neurological complications of the disease, which remain a major cause of disability and death in patients. Clinical and experimental studies have provided essential insight into the pathogenesis of CNS lesions and the natural history of the disorder. The relatively recent introduction of effective antiretroviral therapy in 1995-6 dramatically improved the course of prognosis of HIV disease. However, there remain a number of unsolved pathogenetic issues, the most puzzling of which remains the precise mechanism of neuronal damage underlying the specific HIV-related cognitive disorder (HIV-dementia. In addition, although antiretroviral therapy has changed the course of neurological complications, new issues have emerged, such as the lack of improvement or even paradoxical deterioration of the neurological status in treated patients. Interpretation of these complications remains largely speculative, partly because of the small number of neuropathological studies related to the beneficial consequence of this

  12. Models of simulation and prediction of the behavior of dengue in four Colombian cities, including climate like modulating variable of the disease

    International Nuclear Information System (INIS)

    Garcia Giraldo, Jairo A; Boshell, Jose Francisco

    2004-01-01

    ARIMA-type models are proposed to simulate the behavior of dengue and to make apparent the relations with the climatic variability in four localities of Colombia. The climatic variable was introduced into the models as an index that modulates the behavior of the disease. It was obtained by means of a multivariate analysis of principal components. The investigation was carried out with information corresponding to the epidemiological weeks from January 1997 to December 2000, for both the number of disease cases and the data corresponding to the meteorological variables. The study shows that the variations of the climate between the previous 9 to 14 weeks have influence on the appearance of new cases of dengue. In particular, the precipitation in these weeks was seen to be greater when in later periods the disease presented epidemic characteristics than the precipitation in those weeks preceded the disease within endemic limits

  13. Comparison of Newly Diagnosed Ocular Hypertension and Open-Angle Glaucoma: Ocular Variables, Risk Factors, and Disease Severity

    Directory of Open Access Journals (Sweden)

    Yvonne M. Buys

    2012-01-01

    Full Text Available Purpose. To describe the distribution of ocular variables, risk factors, and disease severity in newly diagnosed ocular hypertension (OH or open-angle glaucoma (OAG. Methods. Eligible subjects underwent a complete history and examination. Adjusted odds ratios (ORs and 95% confidence intervals (CIs obtained from multiple logistic regression models were used to compare OAG to OH and advanced to early/moderate OAG. Results. 405 subjects were enrolled: 292 (72.1% with OAG and 113 (27.9% with OH. 51.7% had early, 27.1% moderate, and 20.9% advanced OAG. The OR for OAG versus OH was 8.19 (P<0.0001 for disc notch, 5.36 (P<0.0001 for abnormal visual field, 1.45 (P=0.001 for worsening mean deviation, 1.91 (P<0.0001 for increased cupping, 1.03 for increased age (P=0.030, and 0.36 (P=0.010 for smoking. Conclusions. Increased age was a risk for OAG, and smoking decreased the risk of OAG compared to OH. Almost half of the OAG subjects had moderate/advanced disease at diagnosis.

  14. Spatiotemporal Phylogenetic Analysis and Molecular Characterisation of Infectious Bursal Disease Viruses Based on the VP2 Hyper-Variable Region.

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    Abdulahi Alfonso-Morales

    Full Text Available Infectious bursal disease is a highly contagious and acute viral disease caused by the infectious bursal disease virus (IBDV; it affects all major poultry producing areas of the world. The current study was designed to rigorously measure the global phylogeographic dynamics of IBDV strains to gain insight into viral population expansion as well as the emergence, spread and pattern of the geographical structure of very virulent IBDV (vvIBDV strains.Sequences of the hyper-variable region of the VP2 (HVR-VP2 gene from IBDV strains isolated from diverse geographic locations were obtained from the GenBank database; Cuban sequences were obtained in the current work. All sequences were analysed by Bayesian phylogeographic analysis, implemented in the Bayesian Evolutionary Analysis Sampling Trees (BEAST, Bayesian Tip-association Significance testing (BaTS and Spatial Phylogenetic Reconstruction of Evolutionary Dynamics (SPREAD software packages. Selection pressure on the HVR-VP2 was also assessed. The phylogeographic association-trait analysis showed that viruses sampled from individual countries tend to cluster together, suggesting a geographic pattern for IBDV strains. Spatial analysis from this study revealed that strains carrying sequences that were linked to increased virulence of IBDV appeared in Iran in 1981 and spread to Western Europe (Belgium in 1987, Africa (Egypt around 1990, East Asia (China and Japan in 1993, the Caribbean Region (Cuba by 1995 and South America (Brazil around 2000. Selection pressure analysis showed that several codons in the HVR-VP2 region were under purifying selection.To our knowledge, this work is the first study applying the Bayesian phylogeographic reconstruction approach to analyse the emergence and spread of vvIBDV strains worldwide.

  15. Spatiotemporal Phylogenetic Analysis and Molecular Characterisation of Infectious Bursal Disease Viruses Based on the VP2 Hyper-Variable Region.

    Science.gov (United States)

    Alfonso-Morales, Abdulahi; Martínez-Pérez, Orlando; Dolz, Roser; Valle, Rosa; Perera, Carmen L; Bertran, Kateri; Frías, Maria T; Majó, Natàlia; Ganges, Llilianne; Pérez, Lester J

    2013-01-01

    Infectious bursal disease is a highly contagious and acute viral disease caused by the infectious bursal disease virus (IBDV); it affects all major poultry producing areas of the world. The current study was designed to rigorously measure the global phylogeographic dynamics of IBDV strains to gain insight into viral population expansion as well as the emergence, spread and pattern of the geographical structure of very virulent IBDV (vvIBDV) strains. Sequences of the hyper-variable region of the VP2 (HVR-VP2) gene from IBDV strains isolated from diverse geographic locations were obtained from the GenBank database; Cuban sequences were obtained in the current work. All sequences were analysed by Bayesian phylogeographic analysis, implemented in the Bayesian Evolutionary Analysis Sampling Trees (BEAST), Bayesian Tip-association Significance testing (BaTS) and Spatial Phylogenetic Reconstruction of Evolutionary Dynamics (SPREAD) software packages. Selection pressure on the HVR-VP2 was also assessed. The phylogeographic association-trait analysis showed that viruses sampled from individual countries tend to cluster together, suggesting a geographic pattern for IBDV strains. Spatial analysis from this study revealed that strains carrying sequences that were linked to increased virulence of IBDV appeared in Iran in 1981 and spread to Western Europe (Belgium) in 1987, Africa (Egypt) around 1990, East Asia (China and Japan) in 1993, the Caribbean Region (Cuba) by 1995 and South America (Brazil) around 2000. Selection pressure analysis showed that several codons in the HVR-VP2 region were under purifying selection. To our knowledge, this work is the first study applying the Bayesian phylogeographic reconstruction approach to analyse the emergence and spread of vvIBDV strains worldwide.

  16. Attempted reconstitution of a foal with primary severe combined immunodeficiency.

    Science.gov (United States)

    Campbell, T M; Studdert, M J; Ellis, W M; Paton, C M

    1983-07-01

    A foal with primary severe combined immunodeficiency, diagnosed within the first two weeks of life, was maintained with its dam in semi-isolation. The foal received continuous prophylactic antibiotic therapy, plasma from a sibling hyperimmunised with equine adenovirus vaccine, and intensive general nursing care. A full sibling female was selected as a bone marrow donor on the basis of red blood cell cross-matching and mixed lymphocyte reactions. Cyclophosphamide was given before two bone marrow transfusions at 35 and 73 days of age. To prevent graft versus host disease graft versus host disease the foal was maintained on methotrexate therapy. Reconstitution was not achieved nor were there signs of graft versus host disease. The foal died suddenly four days after the second bone marrow transfer when 77 days old. It had remained clinically free of any life threatening infectious disease and at necropsy a remarkable degree of freedom from infectious disease was confirmed. The most notable necropsy findings were bilateral nephrosis and myocardial degeneration and fibrosis. The likely cause of death was an electrolyte imbalance, particularly hypokalaemia, which secondarily affected the myocardium. Renal toxicity caused by the cytotoxic drugs, especially cyclophosphamide, may have contributed to the electrolyte imbalance.

  17. Hepatitis C, human immunodeficiency virus and metabolic syndrome: interactions.

    Science.gov (United States)

    Kotler, Donald P

    2009-03-01

    Significant concerns have been raised about the metabolic effects of antiretroviral medication, including the classic triad of dyslipidaemia, insulin resistance (IR) and characteristic alterations in fat distribution (lipoatrophy and lipohypertrophy). Co-infection with hepatitis C appears to exacerbate IR, reduce serum lipids and induce prothrombotic changes in the treated human immunodeficiency virus patient. The effects of co-infection are complex. While combination antiretroviral therapy has been shown to be associated with an increased risk of cardiovascular events through promotion of dyslipidaemia, IR and fat redistribution, co-infection exacerbates IR while reducing serum lipids. Co-infection also promotes a prothrombotic state characterized by endothelial dysfunction and platelet activation, which may enhance risk for cardiovascular disease. Consideration must be given to selection of appropriate treatment regimens and timing of therapy in co-infected patients to minimize metabolic derangements and, ultimately, reduce cardiovascular risk.

  18. Cerebral toxoplasmosis and lymphoma in patients with Acquired Immunodeficiency Syndrome

    International Nuclear Information System (INIS)

    Laviopierre, A.M.; Lawler, G.A.

    1989-01-01

    Toxoplasmosis now constitutes a relatively frequent central nervous system (CNS) complication of AIDS, primary CNS lymphoma being far less common. CT scanning using the double-dose delayed (D-D-D) scan technique has proved an effective way of helping in the diagnosis of these complications. 16 patients with CNS complications of the acquired immunodeficiency syndrome (AIDS) are described. All patients were male homosexuals. The most common demonstrable lesion in the parenchyma was toxoplasmosis, which produced an area of focal oedema, usually containing a central zone of nodular or ring-shaped enhancement. Cerebral atrophy was also a common finding. One patient had diffuse peri-ventricular lymphomatous infiltration, and a further two patients had both cerebral toxoplasmosis and lymphoma. A delayed double dose contrast examination appears to be the most accurate method of outlining the total extent of CNS disease in these patients. 11 refs., 7 figs., 2 tabs

  19. Pre-exposure Prophylaxis Against Human Immunodeficiency Virus

    Directory of Open Access Journals (Sweden)

    Güle ÇINAR

    2018-03-01

    Full Text Available According to the Center for Disease Control and Prevention (CDC, there were 2.1 million new human immunodeficiency virus (HIV cases reported worldwide in 2015, which shows that siginificant work needs to be done to prevent the transmission of HIV. Research to date has focused mainly on high-risk men who have sex with men, but many women around the world are also at a high risk for HIV transmissions. In studies conducted, the incidence of HIV infection in high-risk individuals decreases over 90% when high-risk individuals use pre-exposure prophylaxis (PreP HIV, tenofovir disoproxil fumarate-emtricitabine (TDF-FTC safely. Current data and studies on pre-exposure prophylaxis were discussed in this review.

  20. Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey

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    Alişan Yıldıran

    2017-12-01

    Full Text Available Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11, Chediak-Higashi syndrome (n=2, leukocyte adhesion deficiency (n=2, MHC class 2 deficiency (n=2, chronic granulomatous syndrome (n=2, hemophagocytic lymphohistiocytosis (n=1, Wiskott-Aldrich syndrome (n=1, and Omenn syndrome (n=1. Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.

  1. Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.

    Science.gov (United States)

    Yıldıran, Alişan; Çeliksoy, Mehmet Halil; Borte, Stephan; Güner, Şükrü Nail; Elli, Murat; Fışgın, Tunç; Özyürek, Emel; Sancak, Recep; Oğur, Gönül

    2017-12-01

    Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.

  2. Malignant syphilis with human immunodeficiency virus infection

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    Jiby Rajan

    2011-01-01

    Full Text Available Malignant syphilis or Lues maligna, commonly reported in the pre-antibiotic era, has now seen a resurgence with the advent of human immunodeficiency virus (HIV. Immunosuppression and sexual promiscuity set the stage for this deadly association of HIV and Treponema pallidum that can manifest atypically and can prove to cause diagnostic problems. We report one such case in a 30-year-old female who responded favorably to treatment with penicillin.

  3. Seroprevalence of the Hepatitis B, Hepatitis C, and Human Immunodeficiency Viruses and Treponema pallidum at the Beijing General Hospital from 2010 to 2014: A Cross-Sectional Study.

    Directory of Open Access Journals (Sweden)

    Shaoxia Xu

    Full Text Available The hepatitis B, hepatitis C, human immunodeficiency viruses and Treponema pallidum are important causes of infectious diseases concern to public health.Between 2010 and 2014, we used an automated chemiluminescence microparticle immunoassay to detect the hepatitis B, hepatitis C, and human immunodeficiency viruses as well as Treponema pallidum (the rapid plasma regain test was used in 2010-2011. Positive human immunodeficiency virus tests were confirmed via western blotting.Among 416,130 subjects, the seroprevalences for hepatitis B virus, hepatitis C virus, human immunodeficiency virus, and Treponema pallidum were 5.72%, 1.23%, 0.196%, and 0.76%, respectively. Among 671 patients with positive human immunodeficiency virus results, 392 cases were confirmed via western blotting. Hepatitis B and human immunodeficiency virus infections were more frequent in men (7.78% and 0.26%, respectively than in women (4.45% and 0.021%, respectively. The hepatitis B and C virus seroprevalences decreased from 6.21% and 1.58%, respectively, in 2010, to 5.37% and 0.988%, respectively, in 2014. The human immunodeficiency virus seroprevalence increased from 0.04% in 2010 to 0.17% in 2014, and was elevated in the Infectious Disease (2.65%, Emergency (1.71%, and Dermatology and Sexually Transmitted Diseases (1.12% departments. The specificity of the human immunodeficiency virus screening was 71.4%. The false positive rates for the Treponema pallidum screening tests increased in patients who were 60-70 years old. The co-infection rates for the hepatitis C and human immunodeficiency viruses were 0.47% in hepatitis C virus-positive patients and 7.33% in human immunodeficiency virus-positive patients.During 2010-2014, hepatitis B virus and human immunodeficiency virus infections were more frequent among men at our institution. Although the seroprevalences of hepatitis B and C viruses decreased, the seroprevalence of human immunodeficiency virus infection increased (with

  4. Intrathymic injection of hematopoietic progenitor cells establishes functional T cell development in a mouse model of severe combined immunodeficiency

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    Andrea Z. Tuckett

    2017-05-01

    Full Text Available Abstract Background Even though hematopoietic stem cell transplantation can be curative in patients with severe combined immunodeficiency, there is a need for additional strategies boosting T cell immunity in individuals suffering from genetic disorders of lymphoid development. Here we show that image-guided intrathymic injection of hematopoietic stem and progenitor cells in NOD-scid IL2rγnull mice is feasible and facilitates the generation of functional T cells conferring protective immunity. Methods Hematopoietic stem and progenitor cells were isolated from the bone marrow of healthy C57BL/6 mice (wild-type, Luciferase+, CD45.1+ and injected intravenously or intrathymically into both male and female, young or aged NOD-scid IL2rγnull recipients. The in vivo fate of injected cells was analyzed by bioluminescence imaging and flow cytometry of thymus- and spleen-derived T cell populations. In addition to T cell reconstitution, we evaluated mice for evidence of immune dysregulation based on diabetes development and graft-versus-host disease. T cell immunity following intrathymic injection of hematopoietic stem and progenitor cells in NOD-scid IL2rγnull mice was assessed in a B cell lymphoma model. Results Despite the small size of the thymic remnant in NOD-scid IL2rγnull mice, we were able to accomplish precise intrathymic delivery of hematopoietic stem and progenitor cells by ultrasound-guided injection. Thymic reconstitution following intrathymic injection of healthy allogeneic hematopoietic cells was most effective in young male recipients, indicating that even in the setting of severe immunodeficiency, sex and age are important variables for thymic function. Allogeneic T cells generated in intrathymically injected NOD-scid IL2rγnull mice displayed anti-lymphoma activity in vivo, but we found no evidence for severe auto/alloreactivity in T cell-producing NOD-scid IL2rγnull mice, suggesting that immune dysregulation is not a major concern

  5. A comparison of weather variables linked to infectious disease patterns using laboratory addresses and patient residence addresses.

    Science.gov (United States)

    Djennad, Abdelmajid; Lo Iacono, Giovanni; Sarran, Christophe; Fleming, Lora E; Kessel, Anthony; Haines, Andy; Nichols, Gordon L

    2018-04-27

    To understand the impact of weather on infectious diseases, information on weather parameters at patient locations is needed, but this is not always accessible due to confidentiality or data availability. Weather parameters at nearby locations are often used as a proxy, but the accuracy of this practice is not known. Daily Campylobacter and Cryptosporidium cases across England and Wales were linked to local temperature and rainfall at the residence postcodes of the patients and at the corresponding postcodes of the laboratory where the patient's specimen was tested. The paired values of daily rainfall and temperature for the laboratory versus residence postcodes were interpolated from weather station data, and the results were analysed for agreement using linear regression. We also assessed potential dependency of the findings on the relative geographic distance between the patient's residence and the laboratory. There was significant and strong agreement between the daily values of rainfall and temperature at diagnostic laboratories with the values at the patient residence postcodes for samples containing the pathogens Campylobacter or Cryptosporidium. For rainfall, the R-squared was 0.96 for the former and 0.97 for the latter, and for maximum daily temperature, the R-squared was 0.99 for both. The overall mean distance between the patient residence and the laboratory was 11.9 km; however, the distribution of these distances exhibited a heavy tail, with some rare situations where the distance between the patient residence and the laboratory was larger than 500 km. These large distances impact the distributions of the weather variable discrepancies (i.e. the differences between weather parameters estimated at patient residence postcodes and those at laboratory postcodes), with discrepancies up to ±10 °C for the minimum and maximum temperature and 20 mm for rainfall. Nevertheless, the distributions of discrepancies (estimated separately for minimum and maximum

  6. Spatiotemporal risk mapping of hand, foot and mouth disease and its association with meteorological variables in children under 5 years.

    Science.gov (United States)

    Xu, C D; Xiao, G X

    2017-10-01

    Hand, foot and mouth disease (HFMD) risk has become an increasing concern in the Beijing-Tianjin-Hebei region, which is the biggest urban agglomeration in north-eastern Asia. In the study, spatiotemporal epidemiological features of HFMD were analysed, and a Bayesian space-time hierarchy model was used to detect local spatial relative risk (RR) and to assess the effect of meteorological factors. From 2009 to 2013, there was an obvious seasonal pattern of HFMD risk. The highest risk period was in the summer, with an average monthly incidence of 4·17/103, whereas the index in wintertime was 0·16/103. Meteorological variables influenced temporal changes in HFMD. A 1 °C rise in air temperature was associated with an 11·5% increase in HFMD (corresponding RR 1·122). A 1% rise in relative humidity was related to a 9·51% increase in the number of HFMD cases (corresponding RR 1·100). A 1 hPa increment in air pressure was related to a 0·11% decrease in HFMD (corresponding RR 0·999). A 1 h increase in sunshine was associated with a 0·28% rise in HFMD cases (corresponding RR 1·003). A 1 m/s rise in wind speed was related to a 6·2% increase in HFMD (corresponding RR 1·064). High-risk areas were mainly large cities, such as Beijing, Tianjin, Shijiazhuang and their neighbouring areas. These findings can contribute to risk control and implementation of disease-prevention policies.

  7. Human Immunodeficiency Virus (HIV types Western blot (WB band profiles as potential surrogate markers of HIV disease progression and predictors of vertical transmission in a cohort of infected but antiretroviral therapy naïve pregnant women in Harare, Zimbabwe

    Directory of Open Access Journals (Sweden)

    Chirenje Mike Z

    2011-01-01

    Full Text Available Abstract Background Expensive CD4 count and viral load tests have failed the intended objective of enabling access to HIV therapy in poor resource settings. It is imperative to develop simple, affordable and non-subjective disease monitoring tools to complement clinical staging efforts of inexperienced health personnel currently manning most healthcare centres because of brain drain. Besides accurately predicting HIV infection, sequential appearance of specific bands of WB test offers a window of opportunity to develop a less subjective tool for monitoring disease progression. Methods HIV type characterization was done in a cohort of infected pregnant women at 36 gestational weeks using WB test. Student-t test was used to determine maternal differences in mean full blood counts and viral load of mothers with and those without HIV gag antigen bands. Pearson Chi-square test was used to assess differences in lack of bands appearance with vertical transmission and lymphadenopathy. Results Among the 64 HIV infected pregnant women, 98.4% had pure HIV-1 infection and one woman (1.7% had dual HIV-1/HIV-2 infections. Absence of HIV pol antigen bands was associated with acute infection, p = 0.002. All women with chronic HIV-1 infection had antibody reactivity to both the HIV-1 envelope and polymerase antigens. However, antibody reactivity to gag antigens varied among the women, being 100%, 90%, 70% and 63% for p24, p17, p39 and p55, respectively. Lack of antibody reactivity to gag p39 antigen was associated with disease progression as confirmed by the presence of lymphadenopathy, anemia, higher viral load, p = 0.010, 0.025 and 0.016, respectively. Although not statistically significant, women with p39 band missing were 1.4 times more likely to transmit HIV-1 to their infants. Conclusion Absence of antibody reactivity to pol and gag p39 antigens was associated with acute infection and disease progression, respectively. Apart from its use in HIV disease

  8. Management of Human Immunodeficiency Virus Infection in Advanced Age

    Science.gov (United States)

    Greene, Meredith; Justice, Amy C.; Lampiris, Harry W.; Valcour, Victor

    2013-01-01

    Importance Human immunodeficiency virus (HIV)-positive patients treated with antiretroviral therapy now have increased life expectancy and develop chronic illnesses that are often seen in older HIV-negative patients. Objective To address emerging issues related to aging with HIV. Screening older adults for HIV, diagnosis of concomitant diseases, management of multiple comorbid medical illnesses, social isolation, polypharmacy, and factors associated with end-of-life care are reviewed. Evidence Acquisition Published guidelines and consensus statements were reviewed. PubMed and PsycINFO were searched between January 2000 and February 2013. Articles not appearing in the search that were referenced by reviewed articles were also evaluated. Findings The population of older HIV-positive patients is rapidly expanding. It is estimated that by 2015 one-half of the individuals in the United States with HIV will be older than age 50. Older HIV-infected patients are prone to having similar chronic diseases as their HIV-negative counterparts, as well as illnesses associated with co-infections. Medical treatments associated with these conditions, when added to an antiretroviral regimen, increase risk for polypharmacy. Care of aging HIV-infected patients involves a need to balance a number of concurrent comorbid medical conditions. Conclusions and Relevance HIV is no longer a fatal disease. Management of multiple comorbid diseases is a common feature associated with longer life expectancy in HIV-positive patients. There is a need to better understand how to optimize the care of these patients. PMID:23549585

  9. Hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated histoplasmosis in the setting of Acquired Immunodeficiency Syndrome (AIDS).

    Science.gov (United States)

    Asanad, Samuel; Cerk, Brendan; Ramirez, Veronica

    2018-06-01

    Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive disease involving immune system over-activation leading to hemophagocytosis. HLH requires early diagnosis and prompt treatment initiation, especially in patients with Acquired Immunodeficiency Syndrome (AIDS). We present a case of a middle-aged male with AIDS and renal failure, who developed HLH secondary to disseminated histoplasmosis. Etoposide chemotherapy as recommended by the HLH 2004 Guidelines was deferred and treatment focused instead on anti-fungal therapy. Anti-retroviral therapy followed thereafter.

  10. A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with Progressive Multifocal Leukoencephalopathy

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    Hee-Jin Kim

    2009-10-01

    Full Text Available Progressive multifocal leukoencephalopathy (PML is a demyelinating disease of the central nervous system (CNS caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS. Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML.

  11. A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with Progressive Multifocal Leukoencephalopathy

    Science.gov (United States)

    Kim, Hee-Jin; Lee, Jae-Jung; Lee, Phil Hyu

    2009-01-01

    Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS). Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML. PMID:24868366

  12. Knowledge, attitude, and beliefs of young, college student blood donors about Human immunodeficiency virus

    OpenAIRE

    Dubey, Anju; Sonker, Atul; Chaudhary, Rajendra K.

    2014-01-01

    Introduction: Young people, who tend to be healthy, idealistic, and motivated, are an excellent pool of potential voluntary unpaid blood donors. Recruiting and retaining young blood donors improves the long term safety and sufficiency of a country′s blood supply. Knowledge, attitude, and beliefs about Human immunodeficiency virus (HIV) should play an important role in prevention of disease transmission. Materials and Methods: This study was a questionnaire based survey, conducted to explore t...

  13. Polyarthropathy in a cat seropositive for feline synctial-forming virus and feline immunodeficiency virus

    International Nuclear Information System (INIS)

    Becker, K.M.; Brown, N.O.; Denardo, G.

    1994-01-01

    A four-year-old, neutered male, domestic shorthair cat presented witha polyarthropathy. Indirect immunofluorescence assays revealed seropositive results for both feline synctial-forming virus (FeSFV) and feline immunodeficiency virus (FIV). Direct relationships between viral infections and polyarthropathy are not confirmed, however, possible correlations are discussed. Mechanisms of lentivirus infections and polyarthropathy in the cat are reviewed in order to theorize a potential relationship among these disease processes

  14. Fulminant gas gangrene in an adolescent with immunodeficiency. Case report and literature review

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    Edna Karina García

    2016-07-01

    Full Text Available Immunity defects are important predisposing factors to aggressive infections with high risk of mortality. The case of a teenager with a history of immunodeficiency, who developed gas gangrene infection originated in the left lower limb is reported here. The disease progressed in less than 24 hours, developed systemic involvement and led to multiple organ failure and death. Pathophysiological aspects and features of the agent are reviewed here, highlighting the importance of high index of clinical suspicion and immediate handling.

  15. Neuroradiology of acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    De La Paz, R.; Enzmann, D.

    1988-01-01

    This paper discusses MRI and CT scanning in the evaluation of AIDS patients with neurological symptoms. MRI is the more sensitive of the two techniques but has poor tissue specificity. Contrast enhancement and identification of tissue calcification on CT scans may improve tissue characterization, but a specific etiological diagnosis may not be possible with either MRI or CT scanning; confirmation by biopsy or the response to treatment is often needed. The finding of multiple focal cerebral lesions on MRI and CT scans usually indicates T. gondii infection. Toxoplasmosis may, however, coexist with primary CNS lymphoma or with fungal, mycobacterial, or viral infection. The presence of a solitary focal cerebral lesion, especially on MRI scans, suggests lymphoma or infection with an agent other than T. gondii. Focal cerebral lesions show a variety of complex signal patterns on MRI and enhancement patterns on CT, none of which are specific for a single etiology. Focal lesions on MRI and CT scans are usually associated with focal neurological deficits, but a significant minority of these lesions, especially those seen on MRI scans, may cause only generalized complaints, such as headache and encephalopathy. MRI and CT are both useful for monitoring therapy and show a reduction in the size, number, and enhancement of lesions with successful treatment. The authors conclude that, owing to its greater sensitivity, MRI appears to be more useful for detecting recurrent disease

  16. Is heart rate variability a feasible method to determine anaerobic threshold in progressive resistance exercise in coronary artery disease?

    Science.gov (United States)

    Sperling, Milena P R; Simões, Rodrigo P; Caruso, Flávia C R; Mendes, Renata G; Arena, Ross; Borghi-Silva, Audrey

    2016-01-01

    Recent studies have shown that the magnitude of the metabolic and autonomic responses during progressive resistance exercise (PRE) is associated with the determination of the anaerobic threshold (AT). AT is an important parameter to determine intensity in dynamic exercise. To investigate the metabolic and cardiac autonomic responses during dynamic resistance exercise in patients with Coronary Artery Disease (CAD). Twenty men (age = 63±7 years) with CAD [Left Ventricular Ejection Fraction (LVEF) = 60±10%] underwent a PRE protocol on a leg press until maximal exertion. The protocol began at 10% of One Repetition Maximum Test (1-RM), with subsequent increases of 10% until maximal exhaustion. Heart Rate Variability (HRV) indices from Poincaré plots (SD1, SD2, SD1/SD2) and time domain (rMSSD and RMSM), and blood lactate were determined at rest and during PRE. Significant alterations in HRV and blood lactate were observed starting at 30% of 1-RM (p<0.05). Bland-Altman plots revealed a consistent agreement between blood lactate threshold (LT) and rMSSD threshold (rMSSDT) and between LT and SD1 threshold (SD1T). Relative values of 1-RM in all LT, rMSSDT and SD1T did not differ (29%±5 vs 28%±5 vs 29%±5 Kg, respectively). HRV during PRE could be a feasible noninvasive method of determining AT in CAD patients to plan intensities during cardiac rehabilitation.

  17. Clinical Variability in Cardiovascular Disease Risk Factor Screening and Management in Adolescent and Young Adult Women with Polycystic Ovary Syndrome.

    Science.gov (United States)

    Baer, Tamara E; Milliren, Carly E; Walls, Courtney; DiVasta, Amy D

    2015-10-01

    To review the clinical presentation, evaluation, and management of normal-weight (NW), overweight (OW), and obese (OB) adolescent and young adult women with polycystic ovary syndrome (PCOS) during a 2-year follow-up. Retrospective chart review. One hundred seventy-three adolescent and young adult women, aged 12-22 years, diagnosed with PCOS. Demographic, health data, and laboratory measures were abstracted from 3 clinic visits: baseline and 1- and 2-year follow-up. Subjects were classified as NW, OW, or OB. Longitudinal data were analyzed using repeated-measures analysis of variance. Body mass index, self-reported concerns, and lifestyle changes. Most patients (73%) were OW or OB. Family history of type 2 diabetes was greater in OW (38%) and OB (53%) patients compared with NW (22%) patients (P = .002). Acanthosis nigricans was identified in OW (62%) and OB (21%) patients but not in NW patients (0%; P insulin (P PCOS were OW or OB. Substantial clinical variability existed in cardiovascular disease (CVD) screening; among those screened, OW and OB patients had greater CVD risk factors. Despite self-reported concerns about weight and diabetes risk among OW and OB patients, no clinically significant change in body mass index percentile occurred. Evidence-based interventions and recommendations for screening tests are needed to address CVD risk in adolescents and young adults with PCOS. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  18. Induced Pluripotent Stem Cells: A novel frontier in the study of human primary immunodeficiencies

    Science.gov (United States)

    Pessach, Itai M.; Ordovas-Montanes, Jose; Zhang, Shen-Ying; Casanova, Jean-Laurent; Giliani, Silvia; Gennery, Andrew R.; Al-Herz, Waleed; Manos, Philip D.; Schlaeger, Thorsten M.; Park, In-Hyun; Rucci, Francesca; Agarwal, Suneet; Mostoslavsky, Gustavo; Daley, George Q.; Notarangelo, Luigi D.

    2010-01-01

    Background The novel ability to epigenetically reprogram somatic cells into induced pluripotent stem cells through the exogenous expression of transcription promises to revolutionize the study of human diseases. Objective Here we report on the generation of 25 induced pluripotent stem cell lines from 6 patients with various forms of Primary Immunodeficiencies, affecting adaptive and/or innate immunity. Methods Patients’ dermal fibroblasts were reprogrammed by expression of four transcription factors, OCT4, SOX2, KLF4, and c-MYC using a single excisable polycistronic lentiviral vector. Results Induced pluripotent stem cells derived from patients with primary immunodeficiencies show a stemness profile that is comparable to that observed in human embryonic stem cells. Following in vitro differentiation into embryoid bodies, pluripotency of the patient-derived indiced pluripotent stem cells lines was demonstrated by expression of genes characteristic of each of the three embryonic layers. We have confirmed the patient-specific origin of the induced pluripotent stem cell lines, and ascertained maintenance of karyotypic integrity. Conclusion By providing a limitless source of diseased stem cells that can be differentiated into various cell types in vitro, the repository of induced pluripotent stem cell lines from patients with primary immunodeficiencies represents a unique resource to investigate the pathophysiology of hematopoietic and extra-hematopoietic manifestations of these diseases, and may assist in the development of novel therapeutic approaches based on gene correction. PMID:21185069

  19. [Consensus statement of the National AIDS Plan Secretariat, Spanish Society of Emergency Medicine and AIDS Study Group of the Spanish Society of Infectious Diseases and Clinical Microbiology on Emergency and Human Immunodeficiency Virus Infection].

    Science.gov (United States)

    2013-01-01

    Supporting non-HIV specialist professionals in the treatment of patients with urgent diseases resulting from HIV infection. These recommendations have been agreed by an expert panel from the National AIDS Plan Secretariat, the Spanish Society of Emergency Medicine, and the AIDS Study Group. A review has been made of the safety and efficacy results of clinical trials and cohort studies published in biomedical journals (PubMed and Embase) or presented at conferences. The strength of each recommendation (A, B, C) and the level of supporting evidence (I, II, III) are based on a modification of the criteria of the Infectious Diseases Society of America. The data to be collected from the emergency medical history in order to recognize the patient at risk of HIV infection were specified. It stressed the basic knowledge of ART principles and its importance in terms of decline in morbidity and mortality of HIV+ patients and referring to the HIV specialist for follow-up, where appropriate, including drug interactions. Management of different emergency situations that may occur in patients with HIV infection is also mentioned. The non-HIV specialist professional, will find the necessary tools to approach HIV patients with an emergency disease. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  20. Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia

    NARCIS (Netherlands)

    van den Berg, H.; Wage, K.; Burggraaf, J. D.; Peters, M.

    1997-01-01

    In an infant with skeletal anomalies and haemolytic disease, intestinal perforation was caused by necrosis of an as yet undetected B-cell lymphoma. Severe combined immunodeficiency with short-limbed skeletal dysplasia was diagnosed. This is the first published report of a patient with this syndrome

  1. Liver-related deaths in persons infected with the human immunodeficiency virus: the D:A:D study

    NARCIS (Netherlands)

    Weber, Rainer; Sabin, Caroline A.; Friis-Møller, Nina; Reiss, Peter; El-Sadr, Wafaa M.; Kirk, Ole; Dabis, Francois; Law, Matthew G.; Pradier, Christian; de Wit, Stephane; Akerlund, Börje; Calvo, Gonzalo; D'Arminio Monforte, Antonella; Rickenbach, Martin; Ledergerber, Bruno; Phillips, Andrew N.; Lundgren, Jens D.

    2006-01-01

    BACKGROUND: An increasing proportion of deaths among human immunodeficiency virus (HIV)-infected persons with access to combination antiretroviral therapy (cART) are due to complications of liver diseases. METHODS: We investigated the frequency of and risk factors associated with liver-related

  2. Epidemiological studies on viral infections and co-infections : Human immunodeficiency virus, hepatitis C virus and human papillomavirus

    NARCIS (Netherlands)

    van Santen, D.K.

    2018-01-01

    The research described in this thesis aimed to increase our understanding of the incidence, disease progression and treatment of human immunodeficiency virus (HIV), hepatitis C virus (HCV), and human papillomavirus (HPV) infections and co-infections in key populations. Chapter 1 contains an overview

  3. Phylogenetic analysis to define feline immunodeficiency virus subtypes in 31 domestic cats in South Africa

    Directory of Open Access Journals (Sweden)

    R. Kann

    2006-06-01

    Full Text Available Feline immunodeficiency virus (FIV, a lentivirus, is an important pathogen of domestic cats around the world and has many similarities to human immunodeficiency virus (HIV. A characteristic of these lentiviruses is their extensive genetic diversity, which has been an obstacle in the development of successful vaccines. Of the FIV genes, the envelope gene is the most variable and sequence differences in a portion of this gene have been used to define 5 FIV subtypes (A, B, C, D and E. In this study, the proviral DNA sequence of the V3-V5 region of the envelope gene was determined in blood samples from 31 FIV positive cats from 4 different regions of South Africa. Phylogenetic analysis demonstrated the presence of both subtypes A and C, with subtype A predominating. These findings contribute to the understanding of the genetic diversity of FIV.

  4. Disease: H00096 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ommittee. ... JOURNAL ... J Allergy Clin Immunol 120:776-94 (2007) DOI:10.1016/j.jaci.2007.08.053 ...e from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification C

  5. Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

    Science.gov (United States)

    Hoeger, Birgit; Serwas, Nina Kathrin; Boztug, Kaan

    2017-01-01

    Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell disorders with antibody deficiency and recurrent infections of various kind. Recent evidence indicates that NF-κB1 haploinsufficiency underlies a variable type of combined immunodeficiency (CID) affecting both B and T lymphocyte compartments, with a broadened spectrum of disease manifestations, including Epstein-Barr virus (EBV)-induced lymphoproliferative disease and immediate life-threatening consequences. As part of this review series focused on EBV-related primary immunodeficiencies, we discuss the current clinical and molecular understanding of monoallelic NFKB1 germline mutations with special focus on the emerging context of EBV-associated disease. We outline mechanistic implications of dysfunctional NF-κB1 in B and T cells and discuss the fatal relation of impaired T-cell function with the inability to clear EBV infections. Finally, we compare common and suggested treatment angles in the context of this complex disease.

  6. Pyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature

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    Mahboubeh Mansouri

    2015-07-01

    Full Text Available Pyoderma vegetans (PV is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD, chronic malnutrition, human immunodeficiency virus (HIV, malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and middle-aged adults. There is no sex predilection for this entity. The lesions could heal spontaneously, but usually recur and become chronic. Our patient was an 11-year-old girl suspected to have primary combined immunodeficiency complicated by chronic recurrent vegetating pustular lesions on the face and postauricular area since one year of age. The histological features of the lesions were consistent with pyoderma vegetans. This is the first case of PV beginning from early infancy in the setting of primary immunodeficiency and in an unusual location.

  7. PATIENT-CENTRED SCREENING FOR PRIMARY IMMUNODEFICIENCY, A MULTI-STAGE DIAGNOSTIC PROTOCOL DESIGNED FOR NONIMMUNOLOGISTS: 2011 UPDATE

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    E. de Vries

    2013-01-01

    Full Text Available Abstract. Members of the European Society for Immunodeficiencies (ESID and other colleagues have updated themulti-stage expert-opinion-based diagnostic protocol for non-immunologists incorporating newly defined primary immunodeficiency diseases (PIDs. The protocol presented here aims to increase the awareness of PIDs among doctors working in different fields. Prompt identification of PID is important for prognosis, but this may not be an easy task. The protocol therefore starts from the clinical presentation of the patient. Because PIDs may present at all ages, this protocol is aimed at both adult and paediatric physicians. The multi-stage design allows cost-effective screening for PID of the large number of potential cases in the early phases, with more expensive tests reserved for definitive classification in collaboration with a specialist in the field of immunodeficiency at a later stage.

  8. Distribution of immunodeficiency fact files with XML – from Web to WAP

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    Riikonen Pentti

    2005-06-01

    Full Text Available Abstract Background Although biomedical information is growing rapidly, it is difficult to find and retrieve validated data especially for rare hereditary diseases. There is an increased need for services capable of integrating and validating information as well as proving it in a logically organized structure. A XML-based language enables creation of open source databases for storage, maintenance and delivery for different platforms. Methods Here we present a new data model called fact file and an XML-based specification Inherited Disease Markup Language (IDML, that were developed to facilitate disease information integration, storage and exchange. The data model was applied to primary immunodeficiencies, but it can be used for any hereditary disease. Fact files integrate biomedical, genetic and clinical information related to hereditary diseases. Results IDML and fact files were used to build a comprehensive Web and WAP accessible knowledge base ImmunoDeficiency Resource (IDR available at http://bioinf.uta.fi/idr/. A fact file is a user oriented user interface, which serves as a starting point to explore information on hereditary diseases. Conclusion The IDML enables the seamless integration and presentation of genetic and disease information resources in the Internet. IDML can be used to build information services for all kinds of inherited diseases. The open source specification and related programs are available at http://bioinf.uta.fi/idml/.

  9. Pneumothorax in human immunodeficiency virus infection

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    Sibes Kumar Das

    2015-01-01

    Full Text Available Pneumothorax occurs more frequently in people with Human immunodeficiency virus infection in comparison with the general population. In most cases it is secondary the underlying pulmonary disorder, especially pulmonary infections. Though Pneumocystis jiroveci pneumonia is most common pulmonary infection associated with pneumothorax, other infections, non-infective etiology and iatrogenic causes are also encountered. Pneumothorax in these patients are associated with persistent bronchopleural fistula, prolonged hospital stay, poor success with intercostal tube drain, frequent requirement of surgical intervention and increased mortality. Optimal therapeutic approach in these patients is still not well-defined.

  10. The co registration of initial PET on the CT-radiotherapy reduces significantly the variabilities of anatomo-clinical target volume in the child hodgkin disease

    International Nuclear Information System (INIS)

    Metwally, H.; Blouet, A.; David, I.; Rives, M.; Izar, F.; Courbon, F.; Filleron, T.; Laprie, A.; Plat, G.; Vial, J.

    2009-01-01

    It exists a great interobserver variability for the anatomo-clinical target volume (C.T.V.) definition in children suffering of Hodgkin disease. In this study, the co-registration of the PET with F.D.G. on the planning computed tomography has significantly lead to a greater coherence in the clinical target volume definition. (N.C.)

  11. Variable Number of Tandem Repeat Markers in the Genome Sequence of Mycosphaerella Fijiensis, the Causal Agent of Black Leaf Streak Disease of Banana (Musa spp.)

    Science.gov (United States)

    Mycosphaerella fijiensis, the causal agent of banana leaf streak disease (commonly known as black Sigatoka), is the most devastating pathogen attacking bananas (Musa spp). Recently the whole genome sequence of M. fijiensis became available. This sequence was screened for the presence of Variable Num...

  12. Effects of Aerobic Exercise Training and Irbesartan on Blood Pressure and Heart Rate Variability in Patients with Chronic Obstructive Pulmonary Disease

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    Karine Marquis

    2008-01-01

    Full Text Available BACKGROUND AND OBJECTIVES: The present pilot study was undertaken to evaluate the efficacy of an aerobic exercise training (AET program alone or combined with an antihypertensive agent (irbesartan to reduce blood pressure (BP and enhance heart rate variability (HRV in chronic obstructive pulmonary disease patients.

  13. The effects of bilateral stimulation of the subthalamic nucleus on heart rate variability in patients with Parkinson's disease.

    Science.gov (United States)

    Liu, Kang-Du; Shan, Din-E; Kuo, Terry B J; Yang, Cheryl C H

    2013-07-01

    The beneficial effects of subthalamic nucleus deep brain stimulation (STN-DBS) on motor symptoms and quality of life in Parkinson's disease (PD) are well known, but little is known of the effects on autonomic function. Diffusion of current during stimulation of the STN may simultaneously involve the motor and nonmotor, limbic and associative areas of the STN. The aims of this study were to examine whether STN stimulation affects functions of the autonomic nervous system and, if so, to correlate the effects with the active contacts of electrodes in the STN. Eight PD patients with good motor control and quality of sleep after STN-DBS surgery were recruited. All patients had two days of recordings with portable polysomnography (PSG) (first night with stimulation "on" and second night "off"). From the PSG data, the first sleep cycle of each recording night was defined. Heart rate variability (HRV) was analyzed between the same uninterrupted periods of the two sleep nights. In addition, the optimal electrode positions were defined from postoperative MRI studies, and the coordinates of active contacts were confirmed. HRV spectral analysis showed that only low-frequency (LF)/high-frequency (HF) power was significantly activated in the stimulation "on" groups (P = 0.011). There was a significant negative correlation between power change of LF/HF and electrode position lateral to the midcommissural point (ρ = 0.857, P = 0.007) These results demonstrate that STN-DBS can enhance sympathetic regulation; the autonomic response may be due to electrical signals being distributed to limbic components of the STN or descending sympathetic pathways in the zona incerta.

  14. 45 CFR 96.128 - Requirements regarding human immunodeficiency virus.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Requirements regarding human immunodeficiency virus. 96.128 Section 96.128 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL... human immunodeficiency virus. (a) In the case of a designated State as described in paragraph (b) of...

  15. Neurologic manifestations of human immunodeficiency virus infection in children

    NARCIS (Netherlands)

    Epstein, L. G.; Sharer, L. R.; Oleske, J. M.; Connor, E. M.; Goudsmit, J.; Bagdon, L.; Robert-Guroff, M.; Koenigsberger, M. R.

    1986-01-01

    This report describes the neurologic manifestations of 36 children with human immunodeficiency virus (HIV) infection. In this cohort, in 16 of 21 children with acquired immunodeficiency syndrome (AIDS), three of 12 children with AIDS-related complex, and one of three asymptomatic seropositive

  16. Allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies: Hospital Israelita Albert Einstein experience

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    Juliana Folloni Fernandes

    2011-06-01

    Full Text Available Objective: To report the experience of a tertiary care hospital withallogeneic hematopoietic stem cell transplantation in children withprimary immunodeficiencies. Methods: Seven patients with primaryimmunodeficiencies (severe combined immunodeficiency: n = 2;combined immunodeficiency: n = 1; chronic granulomatous disease:n = 1; hyper-IgM syndrome: n = 2; and IPEX syndrome: n = 1who underwent eight hematopoietic stem cell transplants (HSCTin a single center, from 2007 to 2010, were studied. Results: Twopatients received transplants from HLA-identical siblings; the othersix transplants were done with unrelated donors (bone marrow: n= 1; cord blood: n = 5. All patients had pre-existing infectionsbefore hematopoietic stem cell transplants. One patient receivedonly anti-thymocyte globulin prior to transplant, three transplantswere done with reduced intensity conditioning regimens and fourtransplants were done after myeloablative therapy. Two patientswere not evaluable for engraftment due to early death. Three patientsengrafted, two had primary graft failure and one received a secondtransplant with posterior engraftment. Two patients died of regimenrelated toxicity (hepatic sinusoidal obstruction syndrome; one patient died of progressive respiratory failure due to Parainfluenza infection diagnosed prior to transplant. Four patients are alive and well from 60 days to 14 months after transplant. Conclusion: Patients’ status prior to transplant is the most important risk factor on the outcome of hematopoietic stem cell transplants in the treatment of these diseases. Early diagnosis and the possibility of a faster referral of these patients for treatment in reference centers may substantially improve their survival and quality of life.

  17. [Primary Intracranial Malignant Lymphoma Associated with Acquired Immunodeficiency Syndrome(AIDS):A Case Report].

    Science.gov (United States)

    Inaka, Yasufumi; Otani, Naoki; Nishida, Sho; Fujii, Kazuya; Ueno, Hideaki; Tomura, Satoshi; Tomiyama, Arata; Osada, Hideo; Wada, Kojiro; Maeda, Takuya; Mori, Kentaro

    2017-11-01

    The spread of human immunodeficiency virus(HIV)infection may result in an increased likelihood of surgery in patients with HIV infection. We treated a patient with intracranial malignant lymphoma associated with acquired immunodeficiency syndrome(AIDS)caused by HIV infection. The recommendations of the countermeasure manual for AIDS were followed. Only surgical staff without finger injury or inflammation were permitted to be involved in the operation. All staff were dressed in a waterproof, full-body surgical gown, and wore double gloves, double foot covers, and an N95 mask. The surgery could be performed safely with such infection control measures. Histological examination revealed a diffuse large B-cell lymphoma. The patient was referred to the Division of Infectious Diseases and Respiratory Medicine for chemotherapy.

  18. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

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    Raz Somech

    2014-01-01

    Full Text Available Quantification of the T cell receptor excision circles (TRECs has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation.

  19. Cellular Restriction Factors of Feline Immunodeficiency Virus

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    Carsten Münk

    2011-10-01

    Full Text Available Lentiviruses are known for their narrow cell- and species-tropisms, which are determined by cellular proteins whose absence or presence either support viral replication (dependency factors, cofactors or inhibit viral replication (restriction factors. Similar to Human immunodeficiency virus type 1 (HIV-1, the cat lentivirus Feline immunodeficiency virus (FIV is sensitive to recently discovered cellular restriction factors from non-host species that are able to stop viruses from replicating. Of particular importance are the cellular proteins APOBEC3, TRIM5α and tetherin/BST-2. In general, lentiviruses counteract or escape their species’ own variant of the restriction factor, but are targeted by the orthologous proteins of distantly related species. Most of the knowledge regarding lentiviral restriction factors has been obtained in the HIV-1 system; however, much less is known about their effects on other lentiviruses. We describe here the molecular mechanisms that explain how FIV maintains its replication in feline cells, but is largely prevented from cross-species infections by cellular restriction factors.

  20. Cellular Restriction Factors of Feline Immunodeficiency Virus

    Science.gov (United States)

    Zielonka, Jörg; Münk, Carsten

    2011-01-01

    Lentiviruses are known for their narrow cell- and species-tropisms, which are determined by cellular proteins whose absence or presence either support viral replication (dependency factors, cofactors) or inhibit viral replication (restriction factors). Similar to Human immunodeficiency virus type 1 (HIV-1), the cat lentivirus Feline immunodeficiency virus (FIV) is sensitive to recently discovered cellular restriction factors from non-host species that are able to stop viruses from replicating. Of particular importance are the cellular proteins APOBEC3, TRIM5α and tetherin/BST-2. In general, lentiviruses counteract or escape their species’ own variant of the restriction factor, but are targeted by the orthologous proteins of distantly related species. Most of the knowledge regarding lentiviral restriction factors has been obtained in the HIV-1 system; however, much less is known about their effects on other lentiviruses. We describe here the molecular mechanisms that explain how FIV maintains its replication in feline cells, but is largely prevented from cross-species infections by cellular restriction factors. PMID:22069525

  1. Assessment of sexual risk behaviors and perception of vulnerability to sexually transmitted diseases/acquired immunodeficiency syndrome in women, 1999–2012: a population based survey in a medium-sized Brazilian city

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    Marilia Arndt Mesenburg

    2014-07-01

    Full Text Available Sexual behavior is a key factor for susceptibility to sexually transmitted diseases. An evaluation of the sexual behavior of women at reproductive age was conducted in 1999. A replication of this study aims to evaluate the current situation and identify changes in sexual behavior, 13 years later. This is a population-based cross-sectional study, conducted with 1071 women in Pelotas, Brazil. Compared to the 1999 study, a 14% increase in early sexual debut and an 8% decrease in the non-use of condoms were observed in 2012. The proportion of women who reported anal sex doubled between these periods. There was no trend of increase or decrease in the prevalence of behaviors with distinct patterns being observed for each of them. Reduction of non-use of condoms may be an indicator of the effectiveness of campaigns to promote safe sex. However, the increased prevalence of early sexual debut and anal sex indicates the need for campaigns to continue and to expand their focus, especially among vulnerable groups.

  2. Emphysema Distribution and Diffusion Capacity Predict Emphysema Progression in Human Immunodeficiency Virus Infection

    Science.gov (United States)

    Leung, Janice M; Malagoli, Andrea; Santoro, Antonella; Besutti, Giulia; Ligabue, Guido; Scaglioni, Riccardo; Dai, Darlene; Hague, Cameron; Leipsic, Jonathon; Sin, Don D.; Man, SF Paul; Guaraldi, Giovanni

    2016-01-01

    Background Chronic obstructive pulmonary disease (COPD) and emphysema are common amongst patients with human immunodeficiency virus (HIV). We sought to determine the clinical factors that are associated with emphysema progression in HIV. Methods 345 HIV-infected patients enrolled in an outpatient HIV metabolic clinic with ≥2 chest computed tomography scans made up the study cohort. Images were qualitatively scored for emphysema based on percentage involvement of the lung. Emphysema progression was defined as any increase in emphysema score over the study period. Univariate analyses of clinical, respiratory, and laboratory data, as well as multivariable logistic regression models, were performed to determine clinical features significantly associated with emphysema progression. Results 17.4% of the cohort were emphysema progressors. Emphysema progression was most strongly associated with having a low baseline diffusion capacity of carbon monoxide (DLCO) and having combination centrilobular and paraseptal emphysema distribution. In adjusted models, the odds ratio (OR) for emphysema progression for every 10% increase in DLCO percent predicted was 0.58 (95% confidence interval [CI] 0.41–0.81). The equivalent OR (95% CI) for centrilobular and paraseptal emphysema distribution was 10.60 (2.93–48.98). Together, these variables had an area under the curve (AUC) statistic of 0.85 for predicting emphysema progression. This was an improvement over the performance of spirometry (forced expiratory volume in 1 second to forced vital capacity ratio), which predicted emphysema progression with an AUC of only 0.65. Conclusion Combined paraseptal and centrilobular emphysema distribution and low DLCO could identify HIV patients who may experience emphysema progression. PMID:27902753

  3. Epidemiology of human immunodeficiency virus infection in blood donations in Europe and Italy.

    Science.gov (United States)

    Suligoi, Barbara; Raimondo, Mariangela; Regine, Vincenza; Salfa, Maria Cristina; Camoni, Laura

    2010-07-01

    The safety of blood with regards to transmission of infectious diseases is guaranteed by European laws that regulate both the selection of donors through pre-donation questionnaires and serological screening. However, variability in the epidemiology of human immunodeficiency virus (HIV) infection in different countries and some differences in the selection of donors can influence the efficacy (with regards to the safety of blood) of these processes. In this study we compared the prevalence of HIV in blood donations in the three macro-areas of Europe and in various western European countries, analysed the criteria of selection and rewarding of donors in western European countries, and studied the trend in the prevalence of HIV in Italy from to 1995 and 2006. European data were derived from the European Centre for the Surveillance of HIV; Italian data were obtained from the Transfusion-Transmitted Infections Surveillance System and National and Regional Register of blood and plasma. The information on eligibility criteria and rewarding offered to donors was derived from international sources. The prevalence of HIV in blood donations was highest in eastern Europe, followed by central Europe and western Europe. Among the western European countries, Spain, Italy and Israel had the highest prevalences; the prevalence was noted to be higher in countries which did not offer any rewarding to the donor. In Italy the prevalence of HIV was 3.8 cases per 100,000 donations in 2006 and increased between 1995 and 2006, both among donations from repeat donors and first time donors. The data highlight the need to continue improving the selection of donors and the coverage of the surveillance systems for HIV infection in transfusion services.

  4. Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

    Science.gov (United States)

    Rae, William; Ward, Daniel; Mattocks, Christopher J; Gao, Yifang; Pengelly, Reuben J; Patel, Sanjay V; Ennis, Sarah; Faust, Saul N; Williams, Anthony P

    2017-09-01

    Primary immunodeficiencies (PIDs) are rare inborn errors of immunity that have a heterogeneous phenotype that can include severe susceptibility to life-threatening infections from multiple pathogens, unique sensitivity to a single pathogen, autoimmune/inflammatory (AI/I) disease, allergies and/or malignancy.