WorldWideScience

Sample records for variable immunodeficiency etiological

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

    Science.gov (United States)

    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.

  2. Autoimmune cytopenias related to common variable immunodeficiency

    Directory of Open Access Journals (Sweden)

    Vlasta Petric

    2011-09-01

    Full Text Available Background: Common variable immunodeficiency disorders are characterised by defective antibody production leading to recurrent infections. Noninfective complications are a consequence of autoimmunity, granuloma and polyclonal lymphoid infiltration. We often detect autoimmune cytopenias before primary immunodefciency is confirmed. Patients and methods: We report a case of 39-year old man with recurrent respiratory infections, autoimmune thrombocytopenia and haemolytic anemia who had common varible immunodeficiency confirmed. He had a lack of serum IgG, IgA and IgM, bronchiectasis, lymphadenopathy, splenomegaly, hepatic granuloma, autoimmune gastritis with B12 deficiency and Evans syndrome. We treated autoimmune cytopenias with methylprednisolon and cyclosporine. After substitution therapy with intravenous immunoglobulin the frequency of espiratory infections decreased. Occurrence of diarrhea is suspected for enteropathy, however, hystologic identification is required. Because of patologically changed gastric mucosa and signs of polyclonal lymphoid infiltration, the patient is at high risk for malignancy and the outcome of the disease remains unpredictable. Conclusions: Generally, we discover common variable immunodeficiency at management of noninfective complications, in wich intravenous immunoglobulin are not effective. Autoimmune cytopenias and some other complications are successfully treated with glucocorticoids. Careful monitorig of these patients is important because of a high risk for malignancy.

  3. Organising pneumonia in common variable immunodeficiency.

    Science.gov (United States)

    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.

  4. Autoimmune Cytopenias In Common Variable Immunodeficiency (CVID

    Directory of Open Access Journals (Sweden)

    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.

  5. Extranodal marginal zone (MALT) lymphoma in common variable immunodeficiency.

    NARCIS (Netherlands)

    Desar, I.M.; Keuter, M.; Raemaekers, J.M.M.; Jansen, J.B.M.J.; Krieken, J.H.J.M. van; Meer, J.W.M. van der

    2006-01-01

    We describe two patients with common variable immunodeficiency (CVID) who developed extranodal marginal zone lymphoma (formerly described as mucosa-associated lymphoid tissue lymphoma or MALT lymphoma). One patient, with documented pernicious anaemia and chronic atrophic gastritis with metaplasia,

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

    Directory of Open Access Journals (Sweden)

    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.

  7. Common variable immunodeficiency and isosporiasis: first report case

    Directory of Open Access Journals (Sweden)

    Gisele Barbosa e Silva

    2012-12-01

    Full Text Available We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID. This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

  8. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management.

    Science.gov (United States)

    Azizi, Gholamreza; Abolhassani, Hassan; Asgardoon, Mohammad Hosein; Alinia, Tina; Yazdani, Reza; Mohammadi, Javad; Rezaei, Nima; Ochs, Hans D; Aghamohammadi, Asghar

    2017-02-01

    Common variable immunodeficiency (CVID) comprises a large heterogeneous group of patients with primary antibody deficiency. Areas covered: The affected patients are characterized by increased susceptibility to infections and low levels of serum immunoglobulin. However, enteropathy, granulomatous organ infiltrates, malignancy, inflammatory and autoimmune conditions are also prevalent. The concomitance of immunodeficiency and autoimmunity appears to be paradoxical and creates difficulties in the management of autoimmune complications affecting these patients. Expert commentary: The management of autoimmunity in patients with CVID requires special considerations because dysregulation and dysfunctions of the immune system along with persistent inflammation impair the process of diagnosis and treatment.

  9. Common Variable Immunodeficiency (CVID: A Case Report

    Directory of Open Access Journals (Sweden)

    Maryam Montazeri

    2017-03-01

    Full Text Available Common variable immune deficiency disease is the most prevalent acquired immune deficiency in human being after selective immunoglobulin A deficiency. It causes reduction of immunoglobulin levels and specific antibodies production and enhancement of recurrent and chronic infections risk, especially respiratory infections. CVID patients faces increased risk of granulomatous disease, autoimmune and phenomenon and malignancy. The disease involves males and females equally. Some studies showed that early diagnosis of CVID disease and regular treatment of patients with IVIG may have an efficient role in decreasing pneumonia and frequency of hospitalization due to infections and its complications. In this study we report a 16 years old girl with CVID, without clinical history of determined infection with recurrent sinusitis.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Common variable immunodeficiency following Epstein-Barr virus infection.

    Science.gov (United States)

    Zuccaro, G; Della Bella, S; Polizzi, B; Vanoli, M; Scorza, R

    1997-01-01

    The authors present a case of a patient who developed recurrent bacterial upper respiratory and pulmonary infections and marked hypogammaglobulinemia with a gradual decrease of serum IgG, IgA and IgM some months after acute Epstein-Barr virus infection. Test for identification of lymphocyte subpopulation showed increased CD8+ T-cells with a surface phenotype (CD8+, CD57+, HLA-DR+) characteristic of virus-induced, activated cytotoxic cells. Viral investigations showed a positive anti-EBNA titer, an IgG titer anti-VCA of 1:40, a negative IgG titer anti-EA and human immunodeficiency virus negativity. The authors conclude that these clinical features are indicative of possible common variable immunodeficiency following Epstein-Barr virus infection.

  12. 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.

  13. Abnormality of regulatory T cells in common variable immunodeficiency.

    Science.gov (United States)

    Azizi, Gholamreza; Hafezi, Nasim; Mohammadi, Hamed; Yazdani, Reza; Alinia, Tina; Tavakol, Marzieh; Aghamohammadi, Asghar; Mirshafiey, Abbas

    2017-05-01

    Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies (PAD) which is defined by recurrent infections, hypogammaglobulinemia and defects in B-cell differentiation into plasma cells and memory B cells. T cell abnormalities have also been described in CVID patients. Several studies reported that Treg frequencies and their functional characteristics are disturbed and might account for the aberrant immune responses observed in CVID patients. The aim of this review is to describe phenotypic and functional characteristics of Treg cells, and to review the literature with respect to the reported Treg defects and its association with the clinical manifestation in CVID. Copyright © 2016. Published by Elsevier Inc.

  14. [Combined variable immunodeficiency with unusal features. A case report].

    Science.gov (United States)

    De Charry, F; Peterschmitt Tonetti, A; De Charry, C; Baseggio, L; Pasquet, F; Khenifer, S; Rassat, R; Pavic, M

    2015-05-01

    The association granulomatosis - combined variable immunodeficiency (CVID) - is well known from the clinicians. However, the association with a large granular lymphocyte (LGL) leukemia has not been yet reported. We report a 50-year-old woman, followed for CVID associated with a granulomatous disease. During the follow-up, the patient developed a granulomatous lymphocytic interstitiel lung disease (GLILD). Secondarily, she presented a LGL leukemia. To our knowledge, this is the first reported case of an association between CVID and LGL leukemia. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  15. 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.

  16. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders

    Energy Technology Data Exchange (ETDEWEB)

    Hampson, F.A. [Department of Radiology, Papworth Hospital, Papworth Everard, Cambridge (United Kingdom); Chandra, A. [Department of Biochemistry and Immunology, Addenbrooke' s Hospital, Cambridge (United Kingdom); Screaton, N.J. [Department of Radiology, Papworth Hospital, Papworth Everard, Cambridge (United Kingdom); Condliffe, A. [Department of Respiratory Medicine, Addenbrooke' s Hospital, Cambridge (United Kingdom); Kumararatne, D.S. [Department of Biochemistry and Immunology, Addenbrooke' s Hospital, Cambridge (United Kingdom); Exley, A.R. [The Respiratory Infection, Inflammation and Immunology Service, Department of Immunology, Papworth Hospital, Papworth Everard, Cambridge (United Kingdom); Babar, J.L., E-mail: judith.babar@addenbrookes.nhs.uk [Department of Radiology, Addenbrooke' s Hospital, Cambridge (United Kingdom)

    2012-06-15

    Respiratory disease is a significant cause of morbidity and mortality amongst patients with primary immunodeficiency disorders. Computed tomography (CT) plays an important role in the multidisciplinary approach to these conditions, in detecting, characterizing, and quantifying the extent of lung damage and in directing treatment. The aim of this review is to classify the primary immunodeficiency disorders and describe the thoracic complications and the associated CT findings whilst discussing the role of radiology in diagnosis and surveillance.

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

    Science.gov (United States)

    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.

  18. 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.

  19. TACI mutations and disease susceptibility in patients with common variable immunodeficiency

    NARCIS (Netherlands)

    Poodt, A. E. J.; Driessen, G. J. A.; de Klein, A.; van Dongen, J. J. M.; van der Burg, M.; de Vries, E.

    The most prevalent primary immunodeficiency is common variable immunodeficiency (CVID). Mutations have been described in four genes, ICOS, CD19, BAFF-R and TNFRSF13B (encoding TACI), together associated with 10-15% of CVID cases. We investigated a family with CVID and identified the heterozygous

  20. 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.

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

    Science.gov (United States)

    Chotirmall, S H; Low, T B; Hassan, T; Branagan, P; Kernekamp, C; Flynn, M G; Gunaratnam, C; McElvaney, N G

    2011-06-01

    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. We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). 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.

  2. 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.

  3. Changes in the etiology, incidence and prognosis of acute lower respiratory track infections in human immunodeficiency virus patients.

    Science.gov (United States)

    Perelló, Rafael; Escoda, Ona; Camón, Silvia; Miró, Òscar; Castañeda, Marta; Moreno, Asunción; Marcos, Maria Ángeles; Perea, Verónica; Alcolea, Natalia; Sánchez, Miquel; Gatell, Josep Maria; Martínez, Esteban

    2015-04-01

    To describe the incidence, the changes in the etiology and the prognosis of lower respiratory tract infection (LRTI) in HIV infected patients, presenting by the first time to the Emergency Department (ED), during years 2000-2010. Prospective collection of data. Data were collected on the first visit of HIV-infected patients at our ED due to a LRTI, (defined according to the criteria of the European Respiratory Society), between 1/1/2000 and 31/12/2010. A series of epidemiological and laboratory variables as well as the need for admission to the intensive care unit (ICU). LRTI etiology were also collected. The influence ofthe mentioned variables on 30-day mortality were analyzed. One hundred thirty one patients were included. LRTI represented 27% of visits to the ED by HIV-infected patients. Mean age was 39±9 years. 72% of patients were males. 18% required admission to the ICU. The most frequent LRTI was pneumonia by P. jiroveci in 35 cases, bacterial penumonia in 27 and pulmonary tuberculosis in 20. LRTI incidence gradually reduced significantly over time from 6.13 × 1000 patients/year in year 2000 to 0.23 × 1000 patients/year in 2010 (p<0.05). Overall mortality was 14%. Logistic regression analysis showed that admission to ICU (p<0.004) and viral load (p<0.029) were independent variables predicting mortality. LRTI is a pathology with a decreasing incidence, probably related to the widespread utilization increased of HAART regimens. lts etiology has also been changing, but with a non negligible mortality, mostly when ICU admission was required. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  4. Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

    NARCIS (Netherlands)

    Finck, A.; Meer, J.W.M. van der; Schaffer, A.A.; Pfannstiel, J.; Fieschi, C.; Plebani, A.; Webster, A.D.; Hammarstrom, L.; Grimbacher, B.

    2006-01-01

    The phenotype of common variable immunodeficiency (CVID) is characterized by recurrent infections owing to hypogammaglobulinemia, with deficiency in immunoglobulin (Ig)G and at least one of IgA or IgM. Family studies have shown a genetic association between CVID and selective IgA deficiency (IgAD),

  5. Disseminated Mycoplasma orale infection in a patient with common variable immunodeficiency syndrome.

    Science.gov (United States)

    Paessler, Michelle; Levinson, Arnold; Patel, Jean Baldus; Schuster, Mindy; Minda, Melanie; Nachamkin, Irving

    2002-10-01

    Human infection with Mycoplasma species other than M. pneumoniae are infrequent, but may be encountered in patients with immunodeficiencies. We report a patient with combined variable immunodeficiency that developed multiple abscesses and destructive bone disease caused by M. orale, an organism generally considered to be non-pathogenic. Molecular laboratory methods, 16S rRNA sequence analysis, were used to detect the organism directly in the surgical specimen and confirmed following isolating of the organism. This case demonstrates the importance of molecular technology in the diagnosis of difficult infectious disease problems.

  6. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Yuri Silva Macedo

    2017-01-01

    Full Text Available Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc. Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.

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

    OpenAIRE

    Balwani Manish R; Kute Vivek B.; Shah Pankaj R; Wakhare Pawan; Trivedi Hargovind L

    2015-01-01

    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 rec...

  8. [Lupus nephritis associated with common variable immunodeficiency: favourable outcome with intravenous immunoglobulin treatment].

    Science.gov (United States)

    Geneviève, M; Bonnet, F; Michaux, C; Geffroy, C-E; Vandenhende, M-A; Combe, C; Morlat, P

    2012-06-01

    We report a 24-year-old woman who presented with a nephrotic syndrome as the revealing manifestation of systemic lupus erythematosus (SLE) and an associated hypogammaglobulinemia related to a common variable immunodeficiency (CVID). Outcome of SLE was favourable with intravenous immunoglobulin treatment solely. Relationships between SLE and CVID are discussed. Copyright © 2011 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

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

    Science.gov (United States)

    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

  10. Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort

    DEFF Research Database (Denmark)

    Westh, L; Mogensen, T H; Dalgaard, L S

    2017-01-01

    In this study, we identified all adults living in Denmark diagnosed with common variable immunodeficiency (CVID) and characterized them according to clinical presentation and EUROclass classification. Using a retrospective, cross-sectional design, possible CVID patients were identified in the Dan......In this study, we identified all adults living in Denmark diagnosed with common variable immunodeficiency (CVID) and characterized them according to clinical presentation and EUROclass classification. Using a retrospective, cross-sectional design, possible CVID patients were identified...... in the Danish National Patient Register and Centers in Denmark treating patients with primary immunodeficiencies. The CVID diagnosis was verified by review of medical records. One-hundred-seventy-nine adults with CVID were identified. This corresponds to a prevalence of 1:26,000. The median age at onset......-infectious complications were strongly associated with B cell phenotype, with all having a reduced number of isotype-switched memory B cells. One-hundred-seventy (95%) were treated with immunoglobulin replacement therapy, primarily administered subcutaneously. According to international guidelines, diagnostic evaluation...

  11. The Microbial Flora of Saliva and Faeces in Individuals with Selective IgA Deficiency and Common Variable Immunodeficiency

    OpenAIRE

    Norhagen, G.; Engström, P. -E.; Hammarström, L.; Smith, C. I. E.; Nord, C. E.

    2011-01-01

    The microflora was determined in saliva and faecal samples from 36 individuals with selective IgA deficiency and 28 individuals with common variable immunodeficiency. Most microbial species in both saliva and faeces in individuals with selective IgA deficiency and common variable immunodeficiency remained unchanged compared to healthy normal individuals. In saliva statistically significant increased numbers of Actinomyces species and decreased numbers of Staphylococcus epidermidis were noted ...

  12. 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...

  13. 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.

  14. EBV-positive primary central nervous system lymphomas in monozygote twins with common variable immunodeficiency and suspected multiple sclerosis.

    Science.gov (United States)

    Jensen, M K; Koch-Henriksen, N; Johansen, P; Varming, K; Christiansen, C B; Knudsen, F

    1997-12-01

    Common variable immunodeficiency represents the most frequently occurring primary immunodeficiency disorder and is usually detected sporadically in patients with no family history of immunodeficiency. We present the case stories of two monozygote twins, who following a period of decreasing serum immunoglobulins developed primary central nervous system lymphomas. One twin had clinical and paraclinical features mimicking multiple sclerosis. Immunohistochemical investigations on biopsy tissue showed expression of the bcl-2 and p53 gene products, and Epstein-Barr virus (EBV) encoded small RNA's (EBER) indicating latent infection were detected in lymphoma cells using in situ hybridisation techniques. The pathogenetic role of EBV in oncogenesis is discussed.

  15. RNA silencing and HIV: A hypothesis for the etiology of the severe combined immunodeficiency induced by the virus

    Directory of Open Access Journals (Sweden)

    Ludwig Linda B

    2008-09-01

    Full Text Available Abstract A novel intrinsic HIV-1 antisense gene was previously described with RNA initiating from the region of an HIV-1 antisense initiator promoter element (HIVaINR. The antisense RNA is exactly complementary to HIV-1 sense RNA and capable of forming ~400 base-pair (bp duplex RNA in the region of the long terminal repeat (LTR spanning the beginning portion of TAR in the repeat (R region and extending through the U3 region. Duplex or double-stranded RNA of several hundred nucleotides in length is a key initiating element of RNA interference (RNAi in several species. This HIVaINR antisense RNA is also capable of forming multiple stem-loop or hairpin-like secondary structures by M-fold analysis, with at least one that perfectly fits the criteria for a microRNA (miRNA precursor. MicroRNAs (miRNAs interact in a sequence-specific manner with target messenger RNAs (mRNAs to induce either cleavage of the message or impede translation. Human mRNA targets of the predicted HIVaINR antisense RNA (HAA microRNAs include mRNA for the human interleukin-2 receptor gamma chain (IL-2RG, also called the common gamma (γc receptor chain, because it is an integral part of 6 receptors mediating interleukin signalling (IL-2R, IL-4R, IL-7R, IL-9R, IL-15R and IL-21R. Other potential human mRNA targets include interleukin-15 (IL-15 mRNA, the fragile × mental retardation protein (FMRP mRNA, and the IL-1 receptor-associated kinase 1 (IRAK1 mRNA, amongst others. Thus the proposed intrinsic HIVaINR antisense RNA microRNAs (HAAmiRNAs of the human immunodeficiency virus form complementary targets with mRNAs of a key human gene in adaptive immunity, the IL-2Rγc, in which genetic defects are known to cause an X-linked severe combined immunodeficiency syndrome (X-SCID, as well as mRNAs of genes important in innate immunity. A new model of intrinsic RNA silencing induced by the HIVaINR antisense RNA in the absence of Tat is proposed, with elements suggestive of both small

  16. Thrombocytopenia in common variable immunodeficiency patients – clinical course, management, and effect of immunoglobulins

    Science.gov (United States)

    Siedlar, Maciej; Kowalczyk, Danuta; Szaflarska, Anna; Błaut-Szlósarczyk, Anita; Zwonarz, Katarzyna

    2015-01-01

    Common variable immunodeficiency (CVID) is a primary immunodeficiency of humoral immunity with heterogeneous clinical features. Diagnosis of CVID is based on hypogammaglobulinaemia, low production of specific antibodies, and disorders of cellular immunity. The standard therapy includes replacement of specific antibodies with human immunoglobulin, prophylaxis, and symptomatic therapy of infections. High prevalence of autoimmunity is characteristic for CVID, most commonly: thrombocytopaenia and neutropaenia, celiac disease, and systemic autoimmune diseases. The study included seven children diagnosed with CVID and treated with immunoglobulin substitution from 2 to 12 years. Thrombocytopenia was diagnosed prior to CVID in four children, developed during immunoglobulin substitution in three children. In one boy with CVID and thrombocytopaenia, haemolytic anaemia occurred, so a diagnosis of Evans syndrome was established. Therapy of thrombocytopaenia previous to CVID included steroids and/or immunoglobulins in high dose, and azathioprine. In children with CVID on regular immunoglobulin substitution, episodes of acute thrombocytopaenia were associated with infections and were treated with high doses of immunoglobulins and steroids. In two patients only chronic thrombocytopaenia was noted. Splenectomy was necessary in one patient because of severe course of thrombocytopaenia. The results of the study indicated a supportive role of regular immunoglobulin substitution in patients with CVID and chronic thrombocytopaenia. However, regular substitution of immunoglobulins in CVID patients did not prevent the occurrence of autoimmune thrombocytopaenia episodes or exacerbations of chronic form. In episodes of acute thrombocytopaenia or exacerbations of chronic thrombocytopaenia, infusions of immunoglobulins in high dose are effective, despite previous regular substitution in the replacing dose. PMID:26155188

  17. Thrombocytopenia in common variable immunodeficiency patients - clinical course, management, and effect of immunoglobulins.

    Science.gov (United States)

    Pituch-Noworolska, Anna; Siedlar, Maciej; Kowalczyk, Danuta; Szaflarska, Anna; Błaut-Szlósarczyk, Anita; Zwonarz, Katarzyna

    2015-01-01

    Common variable immunodeficiency (CVID) is a primary immunodeficiency of humoral immunity with heterogeneous clinical features. Diagnosis of CVID is based on hypogammaglobulinaemia, low production of specific antibodies, and disorders of cellular immunity. The standard therapy includes replacement of specific antibodies with human immunoglobulin, prophylaxis, and symptomatic therapy of infections. High prevalence of autoimmunity is characteristic for CVID, most commonly: thrombocytopaenia and neutropaenia, celiac disease, and systemic autoimmune diseases. The study included seven children diagnosed with CVID and treated with immunoglobulin substitution from 2 to 12 years. Thrombocytopenia was diagnosed prior to CVID in four children, developed during immunoglobulin substitution in three children. In one boy with CVID and thrombocytopaenia, haemolytic anaemia occurred, so a diagnosis of Evans syndrome was established. Therapy of thrombocytopaenia previous to CVID included steroids and/or immunoglobulins in high dose, and azathioprine. In children with CVID on regular immunoglobulin substitution, episodes of acute thrombocytopaenia were associated with infections and were treated with high doses of immunoglobulins and steroids. In two patients only chronic thrombocytopaenia was noted. Splenectomy was necessary in one patient because of severe course of thrombocytopaenia. The results of the study indicated a supportive role of regular immunoglobulin substitution in patients with CVID and chronic thrombocytopaenia. However, regular substitution of immunoglobulins in CVID patients did not prevent the occurrence of autoimmune thrombocytopaenia episodes or exacerbations of chronic form. In episodes of acute thrombocytopaenia or exacerbations of chronic thrombocytopaenia, infusions of immunoglobulins in high dose are effective, despite previous regular substitution in the replacing dose.

  18. 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

  19. Common variable immunodeficiency in miniature dachshunds affected with Pneumonocystis carinii pneumonia.

    Science.gov (United States)

    Lobetti, R

    2000-01-01

    Seven miniature dachshunds, all under the age of 1 year, were presented with polypnea, tachypnea, and exercise intolerance as a result of Pneumocystis carinii pneumonia, which was diagnosed on transtracheal aspirate cytology. In all of the dogs, historical and clinical signs were suggestive of immune incompetence. Immunological studies undertaken were leukogram parameters, serum immunoglobulin fraction quantification, lymphocyte transformation assay. CD3 and CD79a lymphocyte markers on lymphoid tissue, and anti-canine immunoglobulin G immunoperoxidase staining. The immunological studies showed hypogammaglobulinemia, deficiency of serum immunoglobulins A, G, and M, decreased lymphocyte transformation response to phytohemagglutinin and pokeweed mitogens and absence of B lymphocytes with presence of T lymphocytes in the lymphoid tissue stained with CD3 and CD79a lymphocyte markers. The preceding findings suggest that P. carinii pneumonia occurring in the miniature dachshund is a result of both a T- and B-cell deficiency. This presentation is not the classic primary severe combined immunodeficiency syndrome but rather combined variable immunodeficiency, which has been well documented in humans but never in the dog.

  20. Proteomic Analysis of Sera from Common Variable Immunodeficiency Patients Undergoing Replacement Intravenous Immunoglobulin Therapy

    Directory of Open Access Journals (Sweden)

    Giuseppe Spadaro

    2011-01-01

    Full Text Available Common variable immunodeficiency is the most common form of symptomatic primary antibody failure in adults and children. Replacement immunoglobulin is the standard treatment of these patients. By using a differential proteomic approach based on 2D-DIGE, we examined serum samples from normal donors and from matched, naive, and immunoglobulin-treated patients. The results highlighted regulated expression of serum proteins in naive patients. Among the identified proteins, clusterin/ApoJ serum levels were lower in naive patients, compared to normal subjects. This finding was validated in a wider collection of samples from newly enrolled patients. The establishment of a cellular system, based on a human hepatocyte cell line HuH7, allowed to ascertain a potential role in the regulation of CLU gene expression by immunoglobulins.

  1. Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency.

    Science.gov (United States)

    Geier, Christoph B; Kraupp, Sophie; Bra, David; Eibl, Martha M; Farmer, Jocelyn R; Csomos, Krisztian; Walter, Jolan E; Wolf, Hermann M

    2017-11-01

    Recent studies identified an emerging role of group 2 and 3 innate lymphoid cells (ILCs) as key players in the generation of T-dependent and T-independent antibody production. In this retrospective case-control study, CD117+ ILCs (including the majority of ILC2 and ILC3) were reduced in patients with common variable immunodeficiency (CVID). The reduction in CD117+ ILCs was distinctive to CVID and could not be observed in patients with X-linked agammaglobulinemia. Patients with a more pronounced reduction in CD117+ ILC numbers showed significantly lower numbers of peripheral MZ-like B cells and an increased prevalence of chronic, non-infectious enteropathy. Subsequent phenotyping of ILC subsets in CVID revealed that the reduction in CD117+ ILC numbers is due to a reduction in ILC2 numbers. In vitro expansion of CVID ILC2 in response to IL-2, IL-7, IL-25 and IL-33 was impaired. Furthermore, upregulation of MHCII and IL-2RA in response to IL-2, IL-7, IL-25 and IL-33 was impaired in CVID ILC2. Thus, our results indicate a dysregulation of ILC subsets with a reduction in ILC2 numbers in CVID, however, further studies are needed to explore whether ILC abnormalities are a primary finding or secondary to disease complications encountered in CVID. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  2. Common Variable Immunodeficiency Associated with Hepatosplenic T-Cell Lymphoma Mimicking Juvenile Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    A. A. Jesus

    2011-01-01

    Full Text Available Common variable immunodeficiency (CVID is a heterogeneous disorder with susceptibility to infections, autoimmune manifestations, and cancer. To our knowledge, CIVD with T-cell lymphoma mimicking juvenile systemic lupus erythematosus (JSLE was not described in the literature, and one case was reported herein. An 8-year-old female was admitted in our Pediatric Immunology Unit with a clinical history of hypogammaglobulinemia, recurrent upper respiratory infections, and pneumonias. She had a marked decrease of three serum immunoglobulin isotypes, and the diagnosis of CVID was established. At the age of 17 years, she presented with oral ulceration, nonerosive arthritis, nephritis, serositis, cytopenia, positive antiphospholipid antibodies, and positive antinuclear antibody fulfilling the American College of Rheumatology (ACR criteria for SLE. She was treated with intravenous methylprednisolone for three consecutive days, and intravenous immunoglobulin, and maintenance therapy of chloroquine, azathioprine and prednisone 40 mg/day. Two months later, she died of septic shock secondary to acute pneumonia. The necropsy showed hepatosplenic T-cell lymphoma with diffuse involvement of bone marrow, spleen, liver, and lungs. The lymphoma cells were positive for CD3 immunostaining and negative for CD20 and lysozyme. In conclusion, the association of CVID and hepatosplenic T-cell lymphoma may simulate JSLE diagnosis.

  3. Common variable immunodeficiency associated with hepatosplenic T-cell lymphoma mimicking juvenile systemic lupus erythematosus.

    Science.gov (United States)

    Jesus, A A; Jacob, C M A; Silva, C A; Dorna, M; Pastorino, A C; Carneiro-Sampaio, M

    2011-01-01

    Common variable immunodeficiency (CVID) is a heterogeneous disorder with susceptibility to infections, autoimmune manifestations, and cancer. To our knowledge, CIVD with T-cell lymphoma mimicking juvenile systemic lupus erythematosus (JSLE) was not described in the literature, and one case was reported herein. An 8-year-old female was admitted in our Pediatric Immunology Unit with a clinical history of hypogammaglobulinemia, recurrent upper respiratory infections, and pneumonias. She had a marked decrease of three serum immunoglobulin isotypes, and the diagnosis of CVID was established. At the age of 17 years, she presented with oral ulceration, nonerosive arthritis, nephritis, serositis, cytopenia, positive antiphospholipid antibodies, and positive antinuclear antibody fulfilling the American College of Rheumatology (ACR) criteria for SLE. She was treated with intravenous methylprednisolone for three consecutive days, and intravenous immunoglobulin, and maintenance therapy of chloroquine, azathioprine and prednisone 40  mg/day. Two months later, she died of septic shock secondary to acute pneumonia. The necropsy showed hepatosplenic T-cell lymphoma with diffuse involvement of bone marrow, spleen, liver, and lungs. The lymphoma cells were positive for CD3 immunostaining and negative for CD20 and lysozyme. In conclusion, the association of CVID and hepatosplenic T-cell lymphoma may simulate JSLE diagnosis.

  4. [Estimation of glomerular filtration rate in adults with common variable immunodeficiency treated with intravenous immunoglobulin. What formula should we use?].

    Science.gov (United States)

    Gaspar, Arturo; Miranda, Guadalupe; López, Eunice; Rodríguez, Karen; Segura, Nora

    2014-01-01

    The common variable immunodeficiency (CVID) is characterized by absence of isohemagglutinins and two standard deviations of normal levels of immunoglobulins. His treatment includes administering immunoglobulin, more frequently intravenous (IVIG). A side effect is the possible severe renal insufficiency secondary to the use of preparations containing sucrose. These patients have weight loss, decreased muscle mass associated with gastrointestinal disorders and bronchiectasis that limit physical activity and other factors. There are different formulas for determining the glomerular filtration rate, we compared the most commonly used to determine the most appropriate in this population. To determine the correlation between glomerular filtration rate using the MDRD formula, CKD-EPI and Cockcroft-Gault and that obtained through the urine creatinine clearance 24 h in patients with common variable immunodeficiency who are treated with IVIG. A transversal, observational and descriptive study that included 19 patients with common variable immunodeficiency, 12 women and 7 men, mean age 36 years, was done. Descriptive statistics with mean, median, mode and standard deviation was used. To measure the concordance of the measurements for quantitative variables intraclass correlation coefficient was used and to determine the correlation between the stages of renal function with different formulas kappa index was calculated. The values of the intraclass correlation coefficient showed a good correlation between creatinine clearance in 24 h urine with CKDEPI, mediocre with MDRD and nil with the Cockroft-Gault formula. Glomerular filtration rate obtained with CKD-EPI proved to be partially most useful, with a good correlation in relation to urine creatinine clearance in 24 h. Its routine use is recommended over other formulas in common variable immunodeficiency patients with suspected renal disease secondary to the use of IVIG.

  5. 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.

  6. Common variable immunodeficiency with coexisting central nervous system sarcoidosis: case report and literature review with implications for diagnosis and pathogenesis.

    Science.gov (United States)

    Dziadzio, Magdalena; Hortobágyi, Tibor; Kidd, Desmond; Chee, Ronnie

    2011-11-30

    We describe a patient with a history of longstanding primary generalised epilepsy, on anticonvulsant therapy, who presented with fever, headache, worsening seizures and hallucinations. Among various investigations, the patient had high CSF protein and ACE levels, leptomeningeal nodular enhancement on MRI brain and non-caseating granulomas in the brain and meninges on the biopsy. The patient was diagnosed with neurosarcoidosis. Subsequently, he was found to be panhypogammaglobulinaemic and was diagnosed with probable common variable immunodeficiency (CVID). The coexistence of common variable immunodeficiency and neurosarcoidosis is rare. Typically, non-caseating granulomas in CVID patients are localised in the lymphatic tissue and solid organs. To our knowledge, there are only five reports of the granulomas of the central nervous system (CNS) in CVID. We discuss the diagnostic difficulties in this case and review the literature.

  7. Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults.

    Science.gov (United States)

    Aghamohammadi, A; Abolhassani, H; Moazzami, K; Parvaneh, N; Rezaei, N

    2010-01-01

    Common variable immunodeficiency (CVID) is a heterogeneous group of disorders with a wide range of clinical manifestations and immunological findings, which could possibly form the basis for classification into different phenotypes. This study was performed to distinguish between different clinical phenotypes in Iranian patients with CVID and compare complications and prognosis between these subgroups. Ninety-three CVID patients were classified according to 5 clinical phenotypes: infections only (n=42), polyclonal lymphocytic infiltration (n=35), autoimmunity (n=10), malignancy (n=10), and enteropathy (n=9). The patients were further categorized into 4 groups based on age of diagnosis (cutoff, 13 years) and parental consanguinity. Grouping of patients showed that CVID children with parental consanguinity was the most frequent group (51%), followed by CVID children without parental consanguinity (21%), CVID adults without parental consanguinity (21%), and CVID adults with parental consanguinity (7%). There were significant associations between the group of CVID children with parental consanguinity and the polyclonal lymphocytic infiltration (P=.011) and enteropathy (P=.048) phenotypes. This group also had a higher mortality rate than other groups (P=.014). High serum levels of immunoglobulin M (IgM) at the time of diagnosis were associated with the eventual development of autoimmunity (P=.023). The adjusted odds ratio (OR) for mortality in all phenotypes showed that mortality was significantly increased in patients with the polyclonal lymphocytic infiltration phenotype (Mantel-Haenszel OR=5.3, CI=3.42-6.2). Parameters such as parental consanguinity and early onset of disease could describe a subgroup of CVID patients characterized by more complications, poorer prognosis, and a need for greater medical care and attention.

  8. 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]*106/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 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 CD21low CD38low 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.

  9. "HUMAN LEUKOCYTE CLASS I AND II ANTIGENS IN IRANIAN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY"

    Directory of Open Access Journals (Sweden)

    "A. Aghamohammadi

    2004-09-01

    Full Text Available Common variable immunodeficiency (CVID is a heterogeneous heritable disease characterized by arrest in B cell differentiation. An association between CVID and two HLA haplotypes, haplotype I (HLA-A1, HLA-B8, HLA-DR3 and haplotype II (HLA-A29, HLA-B44, HLADR7has been previously documented. In the present study, we have attempted to find an association between susceptibility to CVID and HLA class I and II antigens in Iranian population. Seventeen Iranian patients with CVID (mean age 17, range 3-28 years; 12 male and 5 female, including two couples of brothers and 100 healthy controls were studied. All subjects were typed for HLA class 1, and 12 patients and all controls were typed for HLA class II, using microdroplet lymphocytotoxicity technique. Out of 12 CVID patients typed for HLA-DR and DQ specificities, five patients presented DR-1, which showed an increased frequency in patient (41.6% vs. 12% in controls, and 3 presented DQ-2, which also showed an increased frequency (25% vs. 4% in controls, both of which reached statistical significance (P = 0.018 and P = 0.026, respectively. HLA-DR10 was present in 2 patients (16.6%, which was markedly more frequent compared to controls, but this difference was not significant statistically. Our results suggest that HLA-DR1 and DQ-2 may contribute to susceptibility to CVID. We did not find any significant association between HLA-A1, B8 and DR3 that has been previously reported to be associated with CVID.

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

    Directory of Open Access Journals (Sweden)

    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

  11. [Study of quality of life in adults with common variable immunodeficiency by using the Questionnaire SF-36].

    Science.gov (United States)

    López-Pérez, Patricia; Miranda-Novales, Guadalupe; Segura-Méndez, Nora Hilda; Del Rivero-Hernández, Leonel; Cambray-Gutiérrez, Cesar; Chávez-García, Aurora

    2014-01-01

    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 immunodeficiency (CVID) is the most commonly diagnosed primary immunodeficiency. To evaluate the quality of life in patients with CVID using the questionnaire SF -36. A descriptive cross-sectional survey included 23 patients diagnosed with CVID, belonging to the Immunodeficiency Clinic Service of Allergology and Clinical Immunology in CMN Siglo XXI, IMSS. The questionnaire SF- 36 validated in Spanish was applied. descriptive statistics with simple frequencies and percentages, inferential statistics: Fisher exact test and ANOVA to compare means. 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 genders were: 54% general health, vitality 59% and physical performance 72%. No differences were found regarding gender. The only issue in which statistically significant 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 haematologicaloncological (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. Adult patients with CVID show deterioration in different dimensions, particularly in the areas of general health, vitality and physical performance. Patients with severe comorbidities such as leukemia, lymphomas, malignancies and severe bronchiectasis show further deterioration in some aspects of quality of life, especially in physical performance and emotional role. A higher number of

  12. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients

    Science.gov (United States)

    Gobert, Delphine; Busse, James B.; Cunningham-Rundles, Charlotte; Galicier, Lionel; Dechartres, Agnès; Berezne, Alice; Bonnotte, Bernard; DeRevel, Thierry; Auzary, Christophe; Jaussaud, Roland; Larroche, Claire; LeQuellec, Alain; Ruivard, Marc; Seve, Pascal; Smail, Amar; Viallard, Jean-François; Godeau, Bertrand; Hermine, Olivier; Michel, Marc

    2012-01-01

    Summary Patients with common variable immunodeficiency (CVID) are at high risk of developing immune thrombocytopenia (ITP) and/or autoimmune haemolytic anaemia (AHA). Given their underlying immunodeficiency, immunosuppressive treatment of these manifestations may increase the risk of infection. To assess efficacy and safety of rituximab in patients with CVID-associated ITP/AHA, a multicentre retrospective study was performed. Thirty-three patients, 29 adults and four children, were included. Patients received an average of 2·6 treatments prior to rituximab including steroids, intravenous immunoglobulin and splenectomy (21%). The median ITP/AHA duration at time of first rituximab administration was 12 months [range 1–324] and the indication for using rituximab was ITP (22 cases), AHA (n = 5) or both (n = 7); 1 patient was treated sequentially for ITP and then AHA. The overall initial response rate to rituximab was 85% including 74% complete responses. After a mean follow-up of 39 ± 30 months after rituximab first administration, 10 of the initial responders relapsed and re-treatment with rituximab was successful in 7/9. Severe infections occurred after rituximab in eight adults (24%), four of whom were not on immunoglobulin replacement therapy. In conclusion, rituximab appears to be highly effective and relatively safe for the management of CVID-associated severe immune cytopenias. PMID:21981575

  13. Multidrug-resistant bacteria induce recurrent keratoconjunctivitis in a patient with common variable immunodeficiency: case report and literature review.

    Science.gov (United States)

    Chao, Jiang; Yumei, Zhou; Zhiqun, Wang; Yang, Zhang; Xuguang, Sun

    2013-11-01

    We present a case study regarding a patient with recurrent keratoconjunctivitis that presented as an initial manifestation of common variable immunodeficiency (CVID). We describe a case and review the recent relevant medical literature. A 33-year-old male had recurrent keratoconjunctivitis induced by multidrug-resistant bacteria. Topical vancomycin treatment was effective, but infection recurred when the vancomycin treatment was stopped. The patient was transferred to the Department of Medicine to rule out potential systemic immune diseases and was finally diagnosed with CVID. Intravenous immunoglobulin (IVIG) was administered, and the patient was followed up monthly without any recurrence of infection to date. IVIG will be administered monthly for the patient's lifetime. Keratoconjunctivitis is a CVID-associated manifestation, sometimes appearing as the first presentation. CVID should be considered when unexplained recurrent conjunctival and/or corneal bacterial infections are observed. Topical therapy is not sufficient to treat this infection and IVIG is necessary.

  14. 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.

  15. Total and High Molecular Weight Adiponectin Expression Is Decreased in Patients with Common Variable Immunodeficiency: Correlation with Ig Replacement Therapy

    Directory of Open Access Journals (Sweden)

    Antonio Pecoraro

    2017-07-01

    Full Text Available Adiponectin (Acrp30 is an adipokine widely studied for its beneficial metabolic properties. It circulates as low molecular weight (LMW, medium molecular weight (MMW, and high molecular weight (HMW oligomers. The latter exerts the most potent biological effects. Acrp30 attracted renewed interest with the finding that it was associated with the development and progression of immune disorders. The mechanisms underlying this association and the role of Acrp30 in the pathophysiology of immune-mediated conditions remain unknown. Common variable immunodeficiency (CVID is a primary immunodeficiency characterized by chronic activation of the immune system, impaired antibody production, and imbalanced cytokine production. In the attempt to shed light on the expression of Acrp30 in CVID, we: (a investigated total Acrp30 and its oligomerization state in CVID patients undergoing maintenance Ig replacement therapy; (b assessed the effects of Ig replacement therapy on Acrp30 expression in treatment-naïve CVID patients, namely, patients not treated before diagnosis, before and after the first Ig administration; and (c evaluated the correlation between Acrp30 levels and clinical phenotypes of the disease. As controls, we analyzed healthy subjects and patients affected by a non-immunodeficiency chronic inflammatory demyelinating polyneuropathy (CIDP, before and after Ig infusion. We found that total Acrp30 and HMW oligomers were decreased in CVID but not in CIDP patients versus controls. Moreover, Acrp30 levels were correlated with IgA levels and were associated with two CVID phenotypes, namely, autoimmune cytopenia and enteropathy. Receiver operating characteristic curve analysis indicated that Acrp30 modulation is specific for CVID patients. Acrp30 and HMW levels quickly and dramatically increased after Ig infusion only in eight treatment-naïve CVID patients but not in five CIDP patients. This finding indicates that Ig administration per se is not able to

  16. 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.

  17. The circulating T helper subsets and regulatory T cells in patients with common variable immunodeficiency with no known monogenic disease.

    Science.gov (United States)

    Azizi, G; Mirshafiey, A; Abolhassani, H; Yazdani, R; Ansariha, F J; Shaghaghi, M; Mortazavi-Jahromi, S S; Noorbakhsh, F; Rezaei, N; Aghamohammadi, A

    2018-01-18

    Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency (PID), characterized by heterogeneous clinical manifestations and defects in B- and T- cells. In the present study, we investigated the T helper (Th) cell subsets and regulatory T (Treg) cells, and their related cytokines and transcription factors in the CVID patients with no definite genetic diagnosis. The study population comprised 13 CVID patients and 13 healthy controls (HC). Mutation analysis was done by whole exome sequencing in CVID patients to rule out monogenic PIDs. Th subsets and Treg were examined by flow cytometry. The expression of determinant cytokines (IFN-γ, IL-17, IL-22, and IL-10), and cell subset specific transcription factors were evaluated before and after stimulation. The main clinical presentations of these patients were infections only and lymphoproliferations phenotypes, but no autoimmune and allergy phenotype were recorded. The frequencies of CD4+ T cells, Th17, and Treg cells were significantly reduced in CVID patients, however the subsets of Th1, Th1-like Th17 and Th22 cells were normal. After stimulation, retinoic-acid-orphan-receptor-C (RORC), and runt-related transcription factor 1 (RUNX1), IL17, and IL10 genes' expression in CVID patients were significantly lower, in comparison to the HC. Moreover, there was a lower concentration of IL-17 and IL-10 in cell culture supernatants of stimulated CD4+ T cells of CVID patients than HC. Our findings demonstrate that the imbalance of Th17 and Tregs could be an associated with infections only and lymphoproliferations phenotype in CVID patients without monogenic disorders.

  18. [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.

  19. Gene expression profiling in peripheral blood mononuclear cells of patients with common variable immunodeficiency: modulation of adaptive immune response following intravenous immunoglobulin therapy.

    Directory of Open Access Journals (Sweden)

    Marzia Dolcino

    Full Text Available BACKGROUND: Regular intravenous immunoglobulin treatment is used to replace antibody deficiency in primary immunodeficiency diseases; however the therapeutic effect seems to be related not only to antibody replacement but also to an active role in the modulation of the immune response. Common variable immunodeficiency is the most frequent primary immunodeficiency seen in clinical practice. METHODS: We have studied the effect of intravenous immunoglobulin replacement in patients with common variable immunodeficiency by evaluating the gene-expression profiles from Affimetrix HG-U133A. Some of the gene array results were validated by real time RT-PCR and by the measurement of circulating cytokines and chemokines by ELISA. Moreover we performed FACS analysis of blood mononuclear cells from the patients enrolled in the study. RESULTS: A series of genes involved in innate and acquired immune responses were markedly up- or down-modulated before therapy. Such genes included CD14, CD36, LEPR, IRF-5, RGS-1, CD38, TNFRSF25, IL-4, CXCR4, CCR3, IL-8. Most of these modulated genes showed an expression similar to that of normal controls after immunoglobulin replacement. Real time RT-PCR of selected genes and serum levels of IL-4, CXCR4 before and after therapy changed accordingly to gene array results. Interestingly, serum levels of IL-8 remained unchanged, as the corresponding gene, before and after treatment. FACS analysis showed a marked decrease of CD8+T cells and an increase of CD4+T cells following treatment. Moreover we observed a marked increase of CD23⁻CD27⁻IgM⁻IgG⁻ B cells (centrocytes. CONCLUSIONS: Our results are in accordance with previous reports and provide further support to the hypothesis that the benefits of intravenous immunoglobulin therapy are not only related to antibody replacement but also to its ability to modulate the immune response in common variable immunodeficiency.

  20. 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

    2017-11-24

    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. Published by Elsevier Inc.

  1. Immunodeficiency in chronic sinusitis: recognition and treatment.

    Science.gov (United States)

    Stevens, Whitney W; Peters, Anju T

    2015-01-01

    Chronic rhinosinusitis (CRS) is estimated to affect over 35 million people. However, not all patients with the diagnosis respond to standard medical and surgical treatments. Although there are a variety of reasons a patient may be refractory to therapy, one possible etiology is the presence of an underlying immunodeficiency. This review will focus on the description, recognition, and treatment of several antibody deficiencies associated with CRS, including common variable immunodeficiency (CVID), selective IgA deficiency, IgG subclass deficiency, and specific antibody deficiency (SAD). The diagnosis of antibody deficiency in patients with CRS is important because of the large clinical implications it can have on sinus disease management. CVID is treated with immunoglobulin replacement, whereas SAD may be managed symptomatically and sometimes with prophylactic antibiotics and/or immunoglobulin replacement.

  2. Health-related quality of life in patients with common variable immunodeficiency switching from intravenous to subcutaneous immunoglobulin therapy

    Directory of Open Access Journals (Sweden)

    Mona Al-Ahmad

    2017-01-01

    Full Text Available Common variable immunodeficiency (CVID is the most common symptomatic primary immunodeficiency disease (PID among adults. CVID consists of two phenotypes – one in which infections are the characteristic and another in which impressive inflammatory and/or hematological complications also develop, including lymphadenopathy, splenomegaly, autoimmune cytopenias, enteropathy, and granulomatous disease. These phenotypes appear to be stable, are related to immunological and inflammatory markers, and are predictive of outcomes. Both subcutaneous immunoglobulin (SCIG and intravenous immunoglobulin (IVIG are equally effective for replacement therapy. No data are available about specific factors affecting the quality of life related to switching from IVIG to SCIG in the Arabian Gulf area. We present the case reports of three adult CVID patients, who were shifted from IVIG to SCIG by the US conversion method (1 : 1.5. We followed-up patients for clinical outcomes, side-effects, immunoglobulin G (IgG trough levels, annual infection rate, and quality of life using questionnaires (RAND-36 over a 3-year period. Three patients (two females and one male, with a mean age of 26 years, had received IVIG [Gamunex-C (Grifols Therapeutics Inc., NC, 27709 USA 10%; Grifols] treatment for an average duration of 4 years and had average IgG trough levels of 7.7±2.9 g/dl. Patients were shifted to SCIG [Subcuvia (Baxalta Innovation GmbH, Vienna, Austria 10%; Baxter] for different reasons. SCIG was administered, using an infusion pump, under medical supervision at the hospital, on a weekly basis. The average IgG trough level on SCIG was 10.4±1.5 g/dl. The annual infection rate of pneumonias, sinusitis, otitis media, and others significantly declined after switching to SCIG in all three patients. However, while on IVIG treatment, some patients reported headache and malaise, but when on the SCIG treatment the reactions were mild and infusion site-related such as erythema

  3. [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.

  4. Predictors of shingles reports at diagnosis of common variable immunodeficiency and selective immunoglobulin G subclass deficiency in 212 Alabama adults

    Directory of Open Access Journals (Sweden)

    James C. Barton

    2012-07-01

    Full Text Available We sought to determine predictors of shingles reports in adults with common variable immunodeficiency or immunoglobulin (Ig G subclass deficiency (CVID/IgGSD. We tabulated observations at diagnosis of CVID/IgGSD in 212 white adult index patients (165 women, 47 men who responded to a question about having had shingles. None had been vaccinated for herpes zoster. We analyzed age, sex, and shingles reports; blood levels of CD19+, CD4+, CD8+, and CD56+ mononuclear cells; serum levels of IgG subclasses, IgA, and IgM; and positivity for human leukocyte antigen (HLA-A and -B haplotypes. Cell counts and immunoglobulin levels were normalized with loge (ln transformation for analyses. Thirty-one patients (14.6% reported shingles; 11 reported recurrent or disseminated shingles. Patients with shingles reports had greater mean age at diagnosis of CVID/IgGSD [54±13 (standard deviation years vs. 47±12 years; P=0.0130] and a greater prevalence of HLA-A*01, B*08 positivity (35.5% vs. 17.7%; P=0.0227. In a 13-factor logistic regression model, there was a positive association of age with shingles reports [P=0.0151; odds ratio (1.05, 95% confidence interval 1.01, 1.08]. HLA-A*01, B*08 positivity was also positively associated with shingles reports [P=0.0480; odds ratio 2.61 (1.00, 6.81]. During a mean followup interval of 7.5 years after CVID/IgGSD diagnosis, the prevalence of recurrent shingles was almost five-fold greater in patients with previous shingles reports. In conclusion, in white adults at CVID/IgGSD diagnosis, age at diagnosis and positivity for HLA-A*01, B*08 have significant positive associations with reports of previous shingles.

  5. Common Variable Immunodeficiency (CVID)

    Science.gov (United States)

    ... Applying Timelines for Assignment, Review, & Funding Timeline for Managing Your Grant Apply for a Grant Sample Applications ... Foreign Organization System Review Sample Agenda: FOS Workshops Changes to Project or ... Center Organizational Chart Find NIAID Staff Office of the Director ...

  6. Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y.

    Science.gov (United States)

    Barton, James C; Bertoli, Luigi F; Acton, Ronald T

    2003-01-01

    Eight hemochromatosis probands with HFE C282Y homozygosity had frequent, severe, or unusual infections and common variable immunodeficiency (CVID) or immunoglobulin (Ig) G subclass deficiency (IgGSD). Thus, we performed serum Ig isotyping and other characterization of 43 additional unselected probands, 5 human leukocyte antigen (HLA)-identical siblings, and 240 consecutive CVID or IgGSD index patients. C282Y allele frequencies were estimated in 58 CVID or IgGSD index patients without hemochromatosis phenotypes and in 341 controls. HLA-A and -B haplotypes and frequencies were determined in all 51 probands, 186 CVID or IgGSD index patients without hemochromatosis phenotypes, and 751 controls. Thirteen unselected probands (30%) had CVID or IgGSD. Among all 21 hemochromatosis probands with CVID (n = 4) or IgGSD (n = 17), Ig subclass deficiency patterns were IgG(1) (n = 5), IgG(1) and IgG(3) (n = 6), IgG(3) (n = 9), and IgG(1), IgG(3), and IgG(4) (n = 1). IgG(2) or IgA deficiency was not detected; one proband had IgM deficiency. Mean values of total IgG, IgG(1), and IgG(3) were significantly lower in probands with CVID or IgGSD. Mean values of age, transferrin saturation, and ferritin at diagnosis and phlebotomy units required to induce iron depletion were similar in probands with or without CVID or IgGSD; phlebotomy had no apparent effect on IgG levels. C282Y frequencies were similar in CVID or IgGSD index cases without hemochromatosis phenotypes and in controls. There was concordance of Ig and hemochromatosis phenotypes in probands and respective HLA-identical siblings. Eight of 240 CVID or IgGSD index patients had hemochromatosis phenotypes and C282Y homozygosity (3 vs 0.7% and 0.2% controls; P IgG abnormalities characteristic of CVID or IgGSD are common in hemochromatosis probands, and that the prevalence of hemochromatosis is increased in CVID and IgGSD index cases. These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y

  7. Introduction of Exogenous Epitopes in the Variable Regions of the Human Immunodeficiency Virus Type 1 Envelope Glycoprotein: Effect on Viral Infectivity and the Neutralization Phenotype▿

    Science.gov (United States)

    Wallace, Aaron; Stamatatos, Leonidas

    2009-01-01

    In this study we examined whether human immunodeficiency virus type 1 (HIV-1) is equally susceptible to neutralization by a given antibody when the epitope of this antibody is introduced at different positions within the viral envelope glycoprotein (Env). To this end, we introduced two exogenous “epitope tags” at different locations within three major Env regions in two distinct HIV-1 isolates. We examined how the introduction of the exogenous epitopes affects Env expression, Env incorporation into virions, Env fusogenic potential, and viral susceptibility to neutralization. Our data indicate that even within the same Env region, the exact positioning of the epitope impacts the susceptibility of the virus to neutralization by the antibody that binds to that epitope. Our data also indicate that even if the same epitope is introduced in the exact same position on two different Envs, its exposure and, as a result, the neutralization susceptibility of the virus, can be very different. In contrast to the findings of previous studies conducted with HIV-1 isolates other than those used here, but in agreement with results obtained with simian immunodeficiency virus, we observed that tagging of the fourth variable region of Env (V4) did not result in neutralization by the anti-tag antibodies. Our data indicate that epitopes in V4 are not properly exposed within the functional HIV-1 trimeric Env spike, suggesting that V4 may not be a good target for vaccine-elicited neutralizing antibodies. PMID:19494007

  8. Introduction of exogenous epitopes in the variable regions of the human immunodeficiency virus type 1 envelope glycoprotein: effect on viral infectivity and the neutralization phenotype.

    Science.gov (United States)

    Wallace, Aaron; Stamatatos, Leonidas

    2009-08-01

    In this study we examined whether human immunodeficiency virus type 1 (HIV-1) is equally susceptible to neutralization by a given antibody when the epitope of this antibody is introduced at different positions within the viral envelope glycoprotein (Env). To this end, we introduced two exogenous "epitope tags" at different locations within three major Env regions in two distinct HIV-1 isolates. We examined how the introduction of the exogenous epitopes affects Env expression, Env incorporation into virions, Env fusogenic potential, and viral susceptibility to neutralization. Our data indicate that even within the same Env region, the exact positioning of the epitope impacts the susceptibility of the virus to neutralization by the antibody that binds to that epitope. Our data also indicate that even if the same epitope is introduced in the exact same position on two different Envs, its exposure and, as a result, the neutralization susceptibility of the virus, can be very different. In contrast to the findings of previous studies conducted with HIV-1 isolates other than those used here, but in agreement with results obtained with simian immunodeficiency virus, we observed that tagging of the fourth variable region of Env (V4) did not result in neutralization by the anti-tag antibodies. Our data indicate that epitopes in V4 are not properly exposed within the functional HIV-1 trimeric Env spike, suggesting that V4 may not be a good target for vaccine-elicited neutralizing antibodies.

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

    Science.gov (United States)

    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

    2015-06-17

    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.

  10. Influence of educational status and other variables on human immunodeficiency virus risk perception among military personnel: a large cohort finding.

    Science.gov (United States)

    Essien, E James; Ogungbade, Gbadebo O; Ward, Doriel; Ekong, Ernest; Ross, Michael W; Meshack, Angela; Holmes, Laurens

    2007-11-01

    Human immunodeficiency virus (HIV) risk perception remains an effective determinant of HIV transmission. Although higher educational attainment has been associated with increased HIV risk perception, this predictor remains to be assessed among Nigerian military personnel (NMP). In a prospective cohort of 2,213 NMP, the effects of education and other factors on HIV risk perception were assessed at baseline by using the X2 statistic and unconditional logistic regression. There was an inverse correlation between higher educational attainment and HIV risk perception in the univariate model (prevalence odds ratio, 0.64; 95% confidence interval, 0.52-0.79). This association persisted after adjustment for relevant covariates in the multivariate model (prevalence odds ratio, 0.70; 95% confidence interval, 0.56-0.88). Similarly, there was a direct correlation between use of alcohol and marijuana and HIV risk perception (p 0.05). This study indicates an inverse correlation between educational attainment and HIV risk perception, as well as a direct correlation between alcohol and marijuana use and HIV risk perception, among NMP. Therefore, HIV prevention interventions targeted at NMP need to include multiple factors that may affect risk perception regardless of the educational status of the participants.

  11. 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 cats were hypertensive (⩾160 mmHg) compared with control cats ( P = 0.025). The prevalence of renal azotaemia did not significantly differ between groups, although FIV-infected cats had significantly lower urine specific gravity (USG) ( P = 0.0273) and a higher incidence of USG below 1.035 ( P = 0.043). Urinary protein:creatinine ratio (UPC) was significantly higher in FIV-infected cats ( P = 0.0005) and proteinuria (UPC >0.4) occurred more frequently in FIV-infected cats ( P 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.

  12. 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.

  13. The Burden of Smoking in the Health-Disease Process in People with Human Immunodeficiency Virus and AIDS

    Directory of Open Access Journals (Sweden)

    Yoenny Peña García

    2017-09-01

    Full Text Available Foundation: smoking affects individual, familial and social health of people living with the human immunodeficiency virus and AIDS. The effects of the habit on these patients influence morbidity and mortality and increase the risk of various diseases and affect the immune response to antiretroviral treatment. Objective: to determine the burden of smoking on the disease health process in patients living with human immunodeficiency virus and AIDS. Methods: an analytical cohort study was performed. It was analyzed as a dependent variable for smoking in people living with the human immunodeficiency virus and AIDS, and as independent variables: age, years of exposure (as a smoker, diseases that have suffered in the last 5 years, immunological condition, and response to antiretroviral therapy. The relative risk and the etiologic risk fraction were calculated, as well as the Chi2 test to estimate the strength of association between the independent and dependent variables. Results: smoking in patients living with human immunodeficiency virus and AIDS had a significant statistical association with different related effects, which in order of strength of association increases the risk of deterioration of the immune system and the incidence of malignant tumours and pneumonia Pneumocystis jirovecii. Conclusion: there was a causal relationship between smoking and the immunodeficiency virus in addition to the incidence of Pneumocystis jirovecii pneumonia. It was show that smoking impairs the immune condition of these patients and affects the adequate response to antiretroviral treatment.

  14. Ethnopharmacology of human immunodeficiency virus in South ...

    African Journals Online (AJOL)

    Infection with the human immunodeficiency virus (HIV), the etiologic agent of acquired immune deficiency syndrome (AIDS), continues to pose an unprecedented public health problem of enormous proportions worldwide. Current treatment options for HIV/AIDS have not been satisfactory and the quest for effective curative or ...

  15. New Findings in Cleavage Sites Variability across Groups, Subtypes and Recombinants of Human Immunodeficiency Virus Type 1

    Science.gov (United States)

    Torrecilla, Esther; Llácer Delicado, Teresa; Holguín, África

    2014-01-01

    Background Polymorphisms at cleavage sites (CS) can influence Gag and Pol proteins processing by the viral protease (PR), restore viral fitness and influence the virological outcome of specific antiretroviral drugs. However, data of HIV-1 variant-associated CS variability is scarce. Methods In this descriptive research, we examine the effect of HIV-1 variants on CS conservation using all 9,028 gag and 3,906 pol HIV-1 sequences deposited in GenBank, focusing on the 110 residues (10 per site) involved at 11 CS: P17/P24, P24/P2, P2/P7, P7/P1, P1/P6gag, NC/TFP, TFP/P6pol, P6pol/PR, PR/RTp51, RTp51/RTp66 and RTp66/IN. CS consensus amino acid sequences across HIV-1 groups (M, O, N, P), group M 9 subtypes and 51 circulating recombinant forms (CRF) were inferred from our alignments and compared to the HIV-1 consensus-of-consensuses sequence provided by GenBank. Results In all HIV-1 variants, the most conserved CS were PR/RTp51, RTp51/RTp66, P24/P2 and RTp66/IN and the least P2/P7 and P6pol/PR. Conservation was significantly lower in subtypes vs. recombinants in P2/P7 and TFP/P6pol and higher in P17/P24. We found a significantly higher conservation rate among Group M vs. non-M Groups HIV-1. The late processing sites at Gag (P7/P1) and GagPol precursors (PR/RTp51) presented a significantly higher conservation vs. the first CS (P2/P7) in the 4 HIV-1 groups. Here we show 52 highly conserved residues across HIV-1 variants in 11 CS and the amino acid consensus sequence in each HIV-1 group and HIV-1 group M variant for each 11 CS. Conclusions This is the first study to describe the CS conservation level across all HIV-1 variants and 11 sites in one of the largest available sequence HIV-1 dataset. These results could help other researchers for the future design of both novel antiretroviral agents acting as maturation inhibitors as well as for vaccine targeting CS. PMID:24516589

  16. Efficiency of recombinant bacille Calmette-Guérin in inducing humoral and cell mediated immunities against human immunodeficiency virus type 1 third variable domain in immunized mice.

    Science.gov (United States)

    Kim, Young Jae

    2011-01-01

    The third variable (V3) loop of the human immunodeficiency virus type 1 (HIV-1) envelope glycoprotein has been intensively studied for AIDS vaccine development. Bacille Calmette-Guérin (BCG) is widely used to immunize against tuberculosis and has many advantages as a vaccine vehicle, such as low toxicity, adjuvant potential, low cost, and long-lasting immune-inducing capacity. This work was initiated to investigate the immunogenicity of recombinant BCG (rBCG-mV3) designed to express trimeric HIV-1 V3 loop (mV3) in rBCG-mV3-immunized animals. HIV-1 V3-concatamer was cloned into pMV261, a BCG-expression vector, and then rBCG-mV3 was constructed by introducing the recombinant plasmid (pMV-V3). The recombinant BCG was examined with regard to its expression of V3-concatamer and the genetic stability in vivo and in vitro. The immune responses induced by recombinant BCG were tested in immunized mice and guinea pigs. The rBCG-mV3 expressed detectable amounts of V3-concatamer when induced by single heat-shock. The recombinant BCG was genetically stable and maintained the introduced mV3 gene for several weeks. V3-specific antibodies were clearly detected 6 weeks after inoculation. The antibody titer rapidly increased after immunization up to 10 weeks, and then maintained for over 4 weeks. IgG2a was prevalent in the V3-specific antiserum. The recombinant BCG was also effective in inducing delayed-type hypersensitivity responses in the immunized guinea pigs. rBCG-immunized mice retained substantial amounts of V3-specific T cells in the spleen, even 5 months after the first immunization. Recombinant BCG-mV3 is very efficient in inducing humoral and long-lasting cell-mediated immunity against HIV-1 V3 in the immunized animals.

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

    Science.gov (United States)

    Compeer, Ewoud B; Janssen, Willemijn; van Royen-Kerkhof, Annet; van Gijn, Marielle; van Montfrans, Joris M; Boes, Marianne

    2015-05-10

    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 antigen-specific antibodies involves two key actions of B-cell receptors (BCR): transmembrane signaling through BCR-complexes to induce B-cell differentiation and proliferation, and BCR-mediated antigen internalization for class-II MHC-mediated presentation to acquire antigen-specific CD4(+) T-cell help.We identified a variant (L3P) in the B-lymphoid tyrosine kinase (BLK) gene of 2 related CVID-patients, which was absent in healthy relatives. BLK belongs to the Src-kinases family and involved in BCR-signaling. Here, we sought to clarify BLK function in healthy human B-cells and its association to CVID.BLK expression was comparable in patient and healthy B-cells. Functional analysis of L3P-BLK showed reduced BCR crosslinking-induced Syk phosphorylation and proliferation, in both primary B-cells and B-LCLs. B-cells expressing L3P-BLK showed accelerated destruction of BCR-internalized antigen and reduced ability to elicit CD40L-expression on antigen-specific CD4(+) T-cells.In conclusion, we found a novel BLK gene variant in CVID-patients that causes suppressed B-cell proliferation and reduced ability of B-cells to elicit antigen-specific CD4(+) T-cell responses. Both these mechanisms may contribute to hypogammaglobulinemia in CVID-patients.

  18. Noninfectious complications in patients with pediatric-onset common variable immunodeficiency correlated with defects in somatic hypermutation but not in class-switch recombination.

    Science.gov (United States)

    Almejún, María Belén; Campos, Bárbara Carolina; Patiño, Virginia; Galicchio, Miguel; Zelazko, Marta; Oleastro, Matías; Oppezzo, Pablo; Danielian, Silvia

    2017-03-01

    Common variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by impaired immunoglobulin production and usually presents with a normal quantity of peripheral B cells. Most attempts aiming to classify these patients have mainly been focused on T- or B-cell phenotypes and their ability to produce protective antibodies, but it is still a major challenge to find a suitable classification that includes the clinical and immunologic heterogeneity of these patients. In this study we evaluated the late stages of B-cell differentiation in a heterogeneous population of patients with pediatric-onset CVID to clinically correlate and assess their ability to perform somatic hypermutation (SHM), class-switch recombination (CSR), or both. We performed a previously reported assay, the restriction enzyme hotspot mutation assay (IgκREHMA), to evaluate in vivo SHM status. We amplified switch regions from genomic DNA to investigate the quality of the double-strand break repairs in the class-switch recombination process in vivo. We also tested the ability to generate immunoglobulin germline and circle transcripts and to upregulate the activation-induced cytidine deaminase gene through in vitro T-dependent and T-independent stimuli. Our results showed that patients could be classified into 2 groups according to their degree of SHM alteration. This stratification showed a significant association between patients of group A, severe alteration, and the presence of noninfectious complications. Additionally, 60% of patients presented with increased microhomology use at switched regions. In vitro activation revealed that patients with CVID behaved heterogeneously in terms of responsiveness to T-dependent stimuli. The correlation between noninfectious complications and SHM could be an important tool for physicians to further characterize patients with CVID. This categorization would help to improve elucidation of the complex mechanisms involved in B

  19. 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

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Etiological agents of diarrhea in patients infected by the human immunodeficiency virus-1: a review Agentes etiológicos da diarréia em pacientes infectados pelo vírus da imunodeficiência tipo-1: revisão

    Directory of Open Access Journals (Sweden)

    Andréa Regina Baptista Rossit

    2009-04-01

    Full Text Available Despite the importance of understanding the epidemiology of agents responsible for infectious diarrhea in human immunodeficiency virus (HIV/acquired immunodeficiency syndrome (AIDS population, the number of articles about this subject is relatively few. The current article summarizes published data on bacterial, fungal, viral and parasitic enteropathogens in the HIV/AIDS seropositive subjects in different countries, regions and localities. In general, there is a great difference in the frequencies of etiological agents due to factors which include immune status, geographical location, climate and socioeconomic conditions. It is important to stress that a great prevalence of infection by emergent agents has been reported in the more advanced stages of AIDS. Therefore, to establish specific treatment depends directly on knowledge of these agents and risk factors associated to their distribution. Moreover, the colonization by potential pathogenic agents verified in these individuals is high thus implicating that they act as carriers. Finally, public health measures of control and prevention must take into consideration the regional previously identified enteropathogens, especially in areas where HIV prevalence is high.Muito embora a importância do conhecimento sobre a epidemiologia dos agentes responsáveis pela diarréia infecciosa nos portadores do vírus da imunodeficiência humana (HIV e/ou doentes pela síndrome da imunodeficiência adquirida (SIDA, o número de artigos científicos sobre o tema é relativamente pequeno. Este artigo resume os dados já publicados sobre os enteropatógenos bacterianos, fúngicos, virais e parasitários que acometem os indivíduos soropositivos para o HIV e/ou doentes pela SIDA em diferentes países, regiões e localidades. Em geral, existe uma grande diferença nas freqüências dos agentes etiológicos, devido a fatores que incluem status imunológico, localização geográfica, clima e condições socioecon

  3. Testing for Human Immunodeficiency Virus

    Science.gov (United States)

    ... education Fact Sheet PFS005: Testing for Human Immunodeficiency Virus AUGUST 2015 • Reasons for Getting Tested • Who Should ... For More Information • Glossary Testing for Human Immunodeficiency Virus Human immunodeficiency virus (HIV) is the virus that ...

  4. Recurrent Infections May Signal Immunodeficiencies

    Science.gov (United States)

    ... Recurrent Infections May Signal Immunodeficiencies Share | Recurrent Infections May Signal Immunodeficiencies This article has been reviewed by ... common bacterial infections? If so, these recurrent infections may be a sign of an immunodeficiency disorder. The ...

  5. Etiology of Spastic Diplegia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-05-01

    Full Text Available The clinical and etiologic profile of spastic diplegia was studied in a retrospective chart review of 54 patients diagnosed during a 12-year period at Montreal Children’s Hospital, Quebec, Canada.

  6. Etiology of Inguinal Hernias

    DEFF Research Database (Denmark)

    Öberg, Stina; Andresen, Kristoffer; Rosenberg, Jacob

    2017-01-01

    BACKGROUND: The etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women. The aim was to summarize the evidence on hernia etiology, with focus on differences between lateral and medial hernias. RESULTS: Lateral...... with patients with lateral hernias. However, connective tissue alteration may play a role in development of both subtypes. Inguinal hernias have a hereditary component with a complex inheritance pattern, and inguinal hernia susceptible genes have been identified that also are involved in connective tissue...... homeostasis. CONCLUSION: The etiology of lateral and medial hernias are at least partly different, but the final explanations are still lacking on certain areas. Further investigations of inguinal hernia genes may explain the altered connective tissue observed in patients with inguinal hernias. The precise...

  7. Epitope-specific CD8+ T cell kinetics rather than viral variability determine the timing of immune escape in simian immunodeficiency virus infection.

    Science.gov (United States)

    Martyushev, Alexey P; Petravic, Janka; Grimm, Andrew J; Alinejad-Rokny, Hamid; Gooneratne, Shayarana L; Reece, Jeanette C; Cromer, Deborah; Kent, Stephen J; Davenport, Miles P

    2015-05-01

    CD8(+) T cells are important for the control of chronic HIV infection. However, the virus rapidly acquires "escape mutations" that reduce CD8(+) T cell recognition and viral control. The timing of when immune escape occurs at a given epitope varies widely among patients and also among different epitopes within a patient. The strength of the CD8(+) T cell response, as well as mutation rates, patterns of particular amino acids undergoing escape, and growth rates of escape mutants, may affect when escape occurs. In this study, we analyze the epitope-specific CD8(+) T cells in 25 SIV-infected pigtail macaques responding to three SIV epitopes. Two epitopes showed a variable escape pattern and one had a highly monomorphic escape pattern. Despite very different patterns, immune escape occurs with a similar delay of on average 18 d after the epitope-specific CD8(+) T cells reach 0.5% of total CD8(+) T cells. We find that the most delayed escape occurs in one of the highly variable epitopes, and that this is associated with a delay in the epitope-specific CD8(+) T cells responding to this epitope. When we analyzed the kinetics of immune escape, we found that multiple escape mutants emerge simultaneously during the escape, implying that a diverse population of potential escape mutants is present during immune selection. Our results suggest that the conservation or variability of an epitope does not appear to affect the timing of immune escape in SIV. Instead, timing of escape is largely determined by the kinetics of epitope-specific CD8(+) T cells. Copyright © 2015 by The American Association of Immunologists, Inc.

  8. 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.

  9. The Etiology of Giftedness

    Science.gov (United States)

    Thompson, Lee Anne; Oehlert, Jeremy

    2010-01-01

    Many theories of giftedness either explicitly or implicitly acknowledge the role of genetic influences; yet, empirical work has not been able to establish the impact that genes have specifically on gifted behavior. In contrast, a great deal of research has been targeted at understanding the etiology of individual differences in general and…

  10. [Etiology of affective disorders].

    Science.gov (United States)

    Shinohara, M; Kariya, T

    1994-05-01

    We discussed mainly neurochemical etiology of affective disorders (A.D.). Neurochemically, decreased 5-HT uptake in the platelet, increased 5-HT2 receptor in the platelet and cortex of suicides, increased beta receptor in the brains of suicide, functional abnormality of alpha 2 receptor in clonidine, DMI test, GABAB receptor up-regulation after chronic administration of antidepressants and mood stabilizers, participation of neuropeptide Y, and abnormality of HPA axis were recognized. Moreover, we referred to the importance of psychosocial and genetic factors. As for the etiology of A.D., while predisposition and environment participate, the method of participation will be different in subtypes. Frailty to stress in a broad sense, however is commonly seen in A.D. Though psychosocial factors are important, the physical condition, which involves fatigue, cannot be ignored. And, it is the most important that the biological and genetical factors which cause A.D., in the face of stimuli, must first be elucidated.

  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. Etiological relationships in atopy

    DEFF Research Database (Denmark)

    Thomsen, Simon Francis; Kyvik, Kirsten Ohm; Backer, Vibeke

    2008-01-01

    respiratory allergic symptoms, that is, asthma and hay fever, to be between .47 and .95. Furthermore, atopic traits share a portion of their genetic determinants with other complex disorders like obesity and behavioral traits. A correlation of about .3 and .34 has been reported between genes associated...... with asthma and obesity, and between genes associated with asthma and depression, respectively. We emphasize that multivariate methods applied to twin studies, especially when genetic marker information is available, provide a valuable framework within which complex etiological mechanisms underlying atopy can...

  13. [FAI - concept and etiology].

    Science.gov (United States)

    Leunig, M; Ganz, R

    2009-05-01

    Femoroacetabular impingement (FAI), a recently proposed mechanical concept regarding the development of osteoarthritis (OA) of the hip, is gaining increased acceptance. Both osseous deformity and use of the hip may result in hip damage. Osseous deformities are seen on the acetabular (pincer) or the femoral (cam) side of the hip, leading to characteristic alterations of the acetabular rim. Cam FAI is found in 20-30-year-old athletic men, revealing deep cartilage avulsions from the acetabular rim while the labrum is frequently intact. In pincer FAI, found in 30-40-year-old women, the labrum is frequently significantly destroyed with only minor damage to the acetabular rim. Professional or athletic impact activities can trigger even mild FAI deformities to become symptomatic. For some FAI deformities, the etiologies are known, but for most of them the exact causes are unknown. An improved understanding of the etiology of FAI and its role in the development of hip OA might lead to a reduction in the prevalence of so-called primary OA of the hip.

  14. [Less frequent etiology in uveitis].

    Science.gov (United States)

    Ignat, F; Preda, M; Perovic, I

    2001-01-01

    This material intends to present three clinical observations regarding the uveitis etiology, that is represented by the association of some etiological factors less known: Toxoplasma gondii, Listeria monocytogenes, Leptospira icterohaemorrhagiae. The uveitis described here have been severe in the fast evolution and with trends of reappearence. This work demonstrates that the strict etiological antibacteria and antiparasite therapy is not enough and only corticotherapy is able to fight against the accentuated inflammatory phenomena that go along with type of uveitis.

  15. 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.

  16. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

    Science.gov (United States)

    Wiseman, Daniel H; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M; Giardina, Patricia J; Klaassen, Robert J; Chakraborty, Pranesh; Geraghty, Michael T; Major-Cook, Nathalie; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A; Marques, Laura; Hughes, Stephen; Bonney, Denise K; Bottomley, Sylvia S; Fleming, Mark D; Wynn, Robert F

    2013-07-04

    Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1 g/dL) and markedly microcytic (median mean corpuscular volume, 62.0 fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B-cell lymphopenia (CD19⁺ range, 0.016-0.22 × 10⁹/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features. Most required regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Median survival was 48 months, with 7 deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B-cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation.

  17. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

    Science.gov (United States)

    May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M.; Giardina, Patricia J.; Klaassen, Robert J.; Chakraborty, Pranesh; Geraghty, Michael T.; Major-Cook, Nathalie; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A.; Marques, Laura; Hughes, Stephen; Bonney, Denise K.; Bottomley, Sylvia S.; Fleming, Mark D.; Wynn, Robert F.

    2013-01-01

    Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1 g/dL) and markedly microcytic (median mean corpuscular volume, 62.0 fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B-cell lymphopenia (CD19+ range, 0.016-0.22 × 109/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features. Most required regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Median survival was 48 months, with 7 deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B-cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation. PMID:23553769

  18. 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...

  19. 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...

  20. Spoken language outcomes after hemispherectomy: factoring in etiology.

    Science.gov (United States)

    Curtiss, S; de Bode, S; Mathern, G W

    2001-12-01

    We analyzed postsurgery linguistic outcomes of 43 hemispherectomy patients operated on at UCLA. We rated spoken language (Spoken Language Rank, SLR) on a scale from 0 (no language) to 6 (mature grammar) and examined the effects of side of resection/damage, age at surgery/seizure onset, seizure control postsurgery, and etiology on language development. Etiology was defined as developmental (cortical dysplasia and prenatal stroke) and acquired pathology (Rasmussen's encephalitis and postnatal stroke). We found that clinical variables were predictive of language outcomes only when they were considered within distinct etiology groups. Specifically, children with developmental etiologies had lower SLRs than those with acquired pathologies (p =.0006); age factors correlated positively with higher SLRs only for children with acquired etiologies (p =.0006); right-sided resections led to higher SLRs only for the acquired group (p =.0008); and postsurgery seizure control correlated positively with SLR only for those with developmental etiologies (p =.0047). We argue that the variables considered are not independent predictors of spoken language outcome posthemispherectomy but should be viewed instead as characteristics of etiology. Copyright 2001 Elsevier Science.

  1. 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.

  2. The Etiology of Primary Hyperhidrosis

    DEFF Research Database (Denmark)

    Hashmonai, Moshe; Cameron, Alan E.P.; Connery, Cliff P.

    2017-01-01

    Purpose: Primary hyperhidrosis is a pathological disorder of unknown etiology, affecting 0.6-5% of the population, and causing severe functional and social handicaps. As the etiology is unknown, it is not possible to treat the root cause. Recently some differences between affected and non......-affected people have been reported. The aim of this review is to summarize these new etiological data. Methods: Search of the literature was performed in the PubMed/Medline Database and pertinent articles were retrieved and reviewed. Additional publications were obtained from the references of these articles...... of patients with hyperhidrosis has been reported. Conclusions: Despite these accumulated data, the etiology of primary hyperhidrosis remains obscure. Nevertheless, three main lines for future research seem to be delineated: genetics, histological observations, and enzymatic studies....

  3. 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.

  4. 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.

  5. Etiologic Factors in Erythema Nodosum

    Directory of Open Access Journals (Sweden)

    Mehmet Ali Gürer

    2008-12-01

    Full Text Available Background and Design: Erythema nodosum (EN is the most common type of inflammatory nodules. Etiologic factors that lead to EN show a wide spectrum including drugs, infections, malignant and inflammatory diseases. The aim of our study was to investigate frequency of etiologic factors, clinical and laboratory findings of EN patients treated in our clinic, and to identify whether these findings were predictive for a specific etiology in these patients or not. Material and Method: A total of 72 patients diagnosed with EN in our clinic during the period 2003-2007 were included. Results: Patients were divided into two groups with regard to their etiologies. Group I was consisting of 30 cases (41.6% in whom no underlying disease or precipitating factor were found and Group II was consisting of 42 cases (58.4% in whom an etiologic factor was identified. Infections (n=24 were the most common identified etiologic factors followed by Behcet's disease (BD, drugs, pregnancy, and sarcoidosis. Statistical analysis revealed no difference according to age and sex characteristics, localization of disease, and the presence of fever and arthralgia as accompanying findings between the groups (p>0.05. The duration of disease was longer in Group II and patients in Group II were found to have more frequently >1 attack of EN, culture positivity and elevated ASO level when compared with that of Group I (p0.05.Conclusion: Infections, BD and drugs were the most frequently detected etiologic factors in our study. Our results revealed that the localization of lesions and laboratory findings like elevated ESR and CRP, leukocytosis, and anemia were not predictors of secondary EN, and that a further search for an underlying disease is necessary in patients having relapsing EN with a long disease duration. (Turkderm 2008; 42: 113-7

  6. An etiological model of perfectionism.

    Directory of Open Access Journals (Sweden)

    Gayle K Maloney

    Full Text Available OBJECTIVE: Perfectionism has been recognized as a transdiagnostic factor that is relevant to anxiety disorders, eating disorders and depression. Despite the importance of perfectionism in psychopathology to date there has been no empirical test of an etiological model of perfectionism. METHOD: The present study aimed to address the paucity of research on the etiology of perfectionism by developing and testing an etiological model using a sample of 311 clients seeking treatment. RESULTS: Structural equation modeling showed a direct relationship between high Parental Expectations and Criticism, and Perfectionism. There was also an indirect relationship between Parental Bonding and Perfectionism that was mediated by core schemas of disconnection and rejection. Finally, it was found that Neuroticism had both an indirect relationship, which was mediated by core schemas, and a direct relationship with perfectionism. CONCLUSIONS: The study provided the first direct test of an etiological model of perfectionism to date. Clinical implications include investigating whether the inclusion of etiological factors in the understanding and treatment of perfectionism is effective.

  7. Spectrum of etiologies causing hydrometrocolpos.

    Science.gov (United States)

    Cerrah Celayir, Aysenur; Kurt, Gökmen; Sahin, Ceyhan; Cici, Inanç

    2013-01-01

    Hydrometrocolpos (HMC) develops as a result of vaginal outflow obstruction and the accumulation of secretions. It might be secondary to persistent cloaca, urogenital sinus, some syndromes, presence of the vaginal septum, vaginal atresia, and imperforate hymen. Each of them has different treatment options and follow-up protocols. This study was performed to identify the etiology and the related management of patients with HMC. A descriptive series of patients with HMC managed in our hospital between 2004 and 2011 is being presented. The medical record of these patients was analyzed for etiology, management, and outcome. Eight patients with HMC were managed during 7 years at our department. Underlying etiologies included urogenital sinus (n=3), and 1 each of imperforate hymen, transverse vaginal septum, Herlyn-Werner-Wunderlich syndrome, persistent cloaca, and a variant of the cloaca. Four patients were prenatally diagnosed. The patient with imperforate hymen was managed successfully with incision and drainage. Abdominal vaginostomy was done in three patients with urogenital sinus as initial procedure. In patient with persistent cloaca, a colostomy and abdominal vaginostomy were performed. Patient with cloaca variant died due to persistent acidosis and salt wasting. HMC may have different etiological factors which may dictate different surgical management. Etiology of HMC can be as simple as imperforate hymen to the most severe cloacal malformations.

  8. Screening for Human Immunodeficiency Virus (HIV)

    Science.gov (United States)

    Understanding Task Force Recommendations Screening for Human Immunodeficiency Virus (HIV) The U.S. Preventive Services Task Force (Task Force) has issued a final recommendation statement on Screening for Human Immunodeficiency Virus (HIV) . This ...

  9. 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

  10. Promoting Cardiovascular Health in Patients Living with Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Harris, Robin

    2018-03-01

    Patients living with human immunodeficiency virus/acquired immunodeficiency syndrome (PLWHA) are at increased risk of cardiovascular disease because of advances in human immunodeficiency virus/acquired immunodeficiency syndrome treatment and increased life expectancy. Cardiovascular health promotion in PLWHA includes strategies for risk factor reduction, disease prevention, early detection, and treatment of cardiovascular disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Update on the treatment of primary immunodeficiencies.

    Science.gov (United States)

    García, J M; Español, T; Gurbindo, M D; Casas C, C

    2007-01-01

    antibody immunodeficiency persists in many cases. The results are better the earlier it is performed, with the absence of previous infections, and with the degree of matching. The patient must be maintained in a laminar flow room with broad anti-infectious prophylaxis and with the intravenous administration of gammaglobulin for a variable period. Many other complications can be expected. Gene therapy. Patients with PID are ideal candidates, as they are monogenic, the haematopoietic cells are easily obtained and virus replication is easy within them. Vectors (viruses) "infect" the stem cells of the patient's bone marrow, producing the transfection of the wild (healthy) gene in these cells. Encouraging results have been achieved in X-linked SCID as there are a number of patients who are considered "cured", although neoplastic processes have occurred due to the activation of proto-oncogenes close to the point of insertion of the external gene, using retroviruses as vectors; there are now trials with adenovirus, physical methods (direct injection...) and chemical methods (viral modification, artificial viruses...). Gene therapy has also been performed in patients with Chronic Granulomatous Disease and trials will improve in the future with changes in protocols used in oncology and infectious diseases.

  12. of human immunodeficiency virus (HIV)

    African Journals Online (AJOL)

    Context: With increasing feminization of the human immunodeficiency virus (HIV) pandemic especially in Africa, more seropositive women are getting pregnant. There is therefore an increasing need for prevention of mother to child transmission (PMTCT) of HIV and increased need for awareness by our women. Objective: ...

  13. Cutaneous manifestations of primary immunodeficiency

    NARCIS (Netherlands)

    Sillevis Smitt, Johannes H.; Kuijpers, Taco W.

    2013-01-01

    To show that skin symptoms help in the recognition of primary immunodeficiencies (PIDs). To analyze whether recent molecular data help in understanding genotype/phenotype relations. Erythroderma in Omenn syndrome may be caused by either mutations in genes associated with severe combined

  14. Contact vitiligo: etiology and treatment

    Directory of Open Access Journals (Sweden)

    Singh P

    2003-01-01

    Full Text Available Fifty patients of contact vitiligo were studied. EtiologicaI agents of contact vitiligo were identified by clinical history, distribution of lesions and patch testing with suspected material. All patients were advised to avoid the suspected agent and treated with PUVASOL and topical steroid. Out of 50 patients (Male 8%, Female 92% age 14-60 years., etiological agent of contact vitiligo was found to be sticking bindi alone in 24 (48%, while bindi along with other etiological agents were found to be purse, foot wear, plastic watch strap, lipstick and tooth paste in 14 ( 28% cases. 14 (28% patients also had disseminated lesions of vitiligo along with contact vitiligo. Positive reaction with patch testing was observed in 18 (36% while depigmentation was seen in 4 ( 8% cases. We observed that response of treatment was better in patients with shorter duration of disease while poor response was seen in patients with longer duration of disease.

  15. THE ETIOLOGY OF BACTERIAL VAGINOSIS

    Science.gov (United States)

    Turovskiy, Yevgeniy; Noll, Katia Sutyak; Chikindas, Michael L.

    2011-01-01

    Bacterial vaginosis (BV) is the most common vaginal infection among women of childbearing age. This condition is notorious for causing severe complications related to the reproductive health of women. Five decades of intense research established many risk factors for acquisition of BV, however due to the complexity of BV and due to lack of a reliable animal model for this condition, its exact etiology remains elusive. In this manuscript we use a historical perspective to critically review the development of major theories on the etiology of BV, ultimately implicating BV-related pathogens, healthy vaginal microbiota, bacteriophages and the immune response of the host. None of these theories on their own can reliably explain the epidemiological data. Instead, BV is caused by a complex interaction of multiple factors, which include the numerous components of the vaginal microbial ecosystem and their human host. Many of these factors are yet to be characterized because a clear understanding of their relative contribution to the etiology of BV is pivotal to formulation of an effective treatment for and prophylaxis of this condition. PMID:21332897

  16. Biventricular thrombi in dilated cardiomyopathy in a patient with human immunodeficiency virus infection: a case report.

    Science.gov (United States)

    Nkoke, Clovis; Kuate, Liliane Mfeukeu; Luchuo, Engelbert Bain; Edie, Sandrine Dikosso; Boombhi, Jerome; Menanga, Alain

    2015-04-28

    Sub-Saharan Africa is undergoing epidemiological transition with an increase in the prevalence of cardiovascular diseases that will add to the already devastating burden of infectious diseases such as human immunodeficiency virus infection. Human immunodeficiency virus infection is increasingly being recognized as an important etiological factor for dilated cardiomyopathy with the potential complication of intraventricular thrombus. However, biventricular thrombi are extremely rare. We report on a rare finding of biventricular thrombi in dilated cardiomyopathy in a patient with human immunodeficiency virus infection in Cameroon. A 52-year old Cameroonian male patient with human immunodeficiency virus infection since 4 years, longstanding heavy alcohol consumption and cigarette smoking presented with gradually worsening shortness of breath, fatigue, persistent dry cough and lower extremity swelling of about two weeks duration. Congestive heart failure was diagnosed. Echocardiography showed left ventricular chamber enlargement with severe left ventricular systolic dysfunction and biventricular thrombi. The thrombi were immobile and regular in configuration, suggesting they were old. He was treated with a conventional heart failure treatment including loop diuretics and angiotensin converting enzyme inhibitors and anticoagulants for the biventricular thrombi. Six months later, a control echocardiography showed a significant decrease in the size of the thrombi. There was no evidence of systemic or pulmonary embolization during follow up. Dilated cardiomyopathy may be seen in patients with human immunodeficiency virus infection, although other mechanisms needs to be assessed, but the occurrence of biventricular thrombi is rare.

  17. Infectious encephalitis: Management without etiological diagnosis 48hours after onset.

    Science.gov (United States)

    Fillatre, P; Crabol, Y; Morand, P; Piroth, L; Honnorat, J; Stahl, J P; Lecuit, M

    2017-05-01

    The etiological diagnosis of infectious encephalitis is often not established 48hours after onset. We aimed to review existing literature data before providing management guidelines. We performed a literature search on PubMed using filters such as "since 01/01/2000", "human", "adults", "English or French", and "clinical trial/review/guidelines". We also used the Mesh search terms "encephalitis/therapy" and "encephalitis/diagnosis". With Mesh search terms "encephalitis/therapy" and "encephalitis/diagnosis", we retrieved 223 and 258 articles, respectively. With search terms "encephalitis and corticosteroid", we identified 38 articles, and with "encephalitis and doxycycline" without the above-mentioned filters we identified 85 articles. A total of 210 articles were included in the analysis. Etiological investigations must focus on recent travels, animal exposures, age, immunodeficiency, neurological damage characteristics, and potential extra-neurological signs. The interest of a diagnosis of encephalitis for which there is no specific treatment is also to discontinue any empirical treatments initially prescribed. Physicians must consider and search for autoimmune encephalitis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Human inmmunoglobulin in primary immunodeficiencies

    Directory of Open Access Journals (Sweden)

    Sheffler Mendoza Selma

    2014-07-01

    Full Text Available Human immunoglobulin replacement therapy has become a corner- stone in the treatment of patients with primary immunodeficiencies (PID. Currently indicated as first-line therapy for predominantly antibody deficiencies, severe combined immunodeficiencies, and some well-defined syndromes with immunodeficiencies, it is also indicated as adjunct therapy in many other PID. Although considered a high-cost medication, elegant studies had showed that patients correctly treated with human immunoglobulin replacement therapy result in lower costs derived from their health- attention. Major benefits of immunoglobulin replacement therapy include but are not restricted to: protection against infectious processes, organ damage progression-arrest, immune modulation and quality-of-life improvement. Two modalities of treatment are currently used, intravenous and subcutaneous, each has clear advantages and disadvantages when compared to the other, which are presented in this article. The correct use of human immunoglobulin for the treatment of patients with PID translates in better medical-practices improving survival and quality of life of affected patients.

  19. Etiological factors of preterm delivery

    Directory of Open Access Journals (Sweden)

    Elvira Brkičević

    2013-09-01

    Full Text Available Introduction: Preterm delivery is the delivery before 37 weeks of gestation are completed. Preterm birth is a major course of neonatal morbidity and mortality, the incidence of premature delivery in developedcountries is 5 to 9%. Aims of this study were to determine the common etiological factors for preterm delivery, most common weeks of gestation for pretern delivery, and most commom way of delivery for preterm delivery.Methods: The study included 600 patients divided into two groups, experimental group (included 300 preterm delivered pregnant women, control group (included 300 term delivered women.Results: The incidence of preterm delivery in pregnant women younger than 18 years was 4.4%, and in pregnant women older than 35 years was 14%. 44.6 % of preterm delivered women at the experimentalgroup had lower education. In the experimental group burdened obstetrical history had 29%, 17.2% had a preterm delivery, 35.6% had a premature rupture of membranes, 15% had a preterm delivery before32 weeks of gestation, 12.4% between 32-33.6 weeks of gestation, while 72.6% of deliveries were between 34- 36.6 weeks of gestation. Multiple pregnancy as an etiological factor was present in 10.07% ofcases. Extragenital diseases were present in 10.4%. In the experimental group there were 29%, while in the control group there were 15% subjects with burdened obstetrical history.Conclusions: Preterm birth more often occurs in a pregnant women younger than 18 and older than 35 years, and in a pregnant women of lower educational degree. Preterm delivery in the most commoncases was fi nished in period from 34 to 36.6 weeks of gestation. The most common etiological factor of preterm delivery in the experimental group was preterm rupture of membranes and idiopathic pretermdelivery.

  20. Etiology of Nasal Bone Fractures.

    Science.gov (United States)

    Hwang, Kun; Ki, So Jung; Ko, Sang Hyun

    2017-05-01

    The aim of this study was to perform a systematic review of the etiology of nasal bone fractures (NBFs).In PubMed (500 titles) and Scopus (272), the search terms "nasal bone fracture" AND "etiology OR cause" were used. Among the 772 titles, 137 were duplicated and excluded. The 552 titles were excluded and 83 abstracts were read. Subsequently, 42 abstracts were excluded and 41 full articles providing data on etiologies of NBFs were reviewed. Finally, 26 papers were incorporated into this analysis.The causes of NBFs were different between adults and children. In adults, the most frequent causes were fights (36.3%), traffic accidents (20.8%), sports (15.3%), and falls (13.4%). In children, the most frequent causes were sports (59.3%), fights (10.8%), traffic accidents (8.3%), collisions (5.0%), and falls (3.3%). It is noticeable that fights, traffic accidents, and falls were more frequent in adults than in children, although sports and collisions were more frequent in children than in adults (P causes of NBFs varied geographically. Fights were the most frequent cause in Asia (36.7%), South America (46.5%), and Europe (40.8%). In North America, however, traffic accidents were the most frequent cause (33.6%), followed by fights (20.7%) and sports (17.3%). Among the sports injuries, ball-related sports were the most frequent cause (84.2%). Fighting-related sports (6.4%) contributed to relatively small proportion of NBFs.In efforts to prevent NBFs in children, sports injuries should be primarily considered. Restraining devices such as seatbelts are needed to prevent NBFs caused by traffic accidents, especially in North America.

  1. Intrathoracic neoplasia: Epidemiology and etiology

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1992-05-01

    Neoplasms of the thorax encompass those derived from the thoracic wall, trachea, mediastinum, lungs and pleura. They represent a wide variety of lesions including benign and malignant tumors arising from many tissues. The large surface area, 60 to 90 m{sup 2} in man, represented by the respiratory epithelium and associated thoracic structures are ideal targets for carcinogens carried by inspired air. The topic of discussion in this report is the epidemiology, etiology, and mechanisms of spontaneous intrathoracic neoplasia in animals and man. Much of what we know or suspect about thoracic neoplasia in animals has been extrapolated from experimentally-induced neoplasms.

  2. Study of opportunistic intestinal parasitic infections in human immunodeficiency virus/acquired immunodeficiency syndrome patients

    Directory of Open Access Journals (Sweden)

    Manish Kumar Mathur

    2013-01-01

    Full Text Available Introduction: Intestinal parasites predominantly coccidian parasites are a common cause for diarrhea in human immunodeficiency virus (HIV-positive patients. Materials and Methods: The study was conducted during January 2009-December 2010. A total of 1,088 stool samples from 544 seropositive HIV positive cases were examined microscopically for ova and cyst using wet mount preparations and stained smears. Out of 544 patients, 343 had prolonged diarrhea for more than 4 weeks, 57 had acute diarrhea of lesser than 7 days and 144 were asymptomatic cases who attended out-patient department; included in this study after taking consent from patients. Enteric pathogens were detected in 274 (50.36% of the 544 patients. Results and Conclusions: The parasites identified were Cryptosporidium (135, Isospora belli (42, Cyclospora (12, Microsporidia (02, Entamoeba histolytica (49, Hookworm (34. Intestinal parasites in chronic diarrhea were significantly higher than the acute diarrhea (63.05% vs. 7.35%; P < 0.05. Parasitic pathogens were frequently associated with HIV-positive patients with diarrhea in Western India. Stools of all HIV-positive patients with diarrhea should thoroughly be investigated to identify etiologic agents for proper management.

  3. Advances of gene therapy for primary immunodeficiencies

    OpenAIRE

    Fabio Candotti

    2016-01-01

    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 advanc...

  4. Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome in Older Adults.

    Science.gov (United States)

    Scott, Jake; Goetz, Matthew Bidwell

    2016-08-01

    Improved survival with combination antiretroviral therapy has led to a dramatic increase in the number of human immunodeficiency virus (HIV)-infected individuals 50 years of age or older such that by 2020 more than 50% of HIV-infected persons in the United States will be above this age. Recent studies confirm that antiretroviral therapy should be offered to all HIV-infected patients regardless of age, symptoms, CD4+ cell count, or HIV viral load. However, when compared with HIV-uninfected populations, even with suppression of measurable HIV replication, older individuals are at greater risk for cardiovascular disease, malignancies, liver disease, and other comorbidities. Published by Elsevier Inc.

  5. 110 HUMAN IMMUNODEFICIENCY VIRUS (HIV) SEROPOSITIVITY ...

    African Journals Online (AJOL)

    INTRODUCTION. An estimated 42 million people worldwide are now infected with the human immunodeficiency virus. (HIV), (1) the causative agent of the acquired immunodeficiency syndrome compared with. 30million people that were infected in 1997(2). Ninety per cent (90%) of these live in developing countries.

  6. Post exposure prophylaxis against human immunodeficiency virus ...

    African Journals Online (AJOL)

    2015-11-23

    Nov 23, 2015 ... immunodeficiency virus post ex- posure prophylaxis (HIV PEP) among paediatricians in Nigeria. ... pathogens including human immunodeficiency virus. (HIV) during the course of providing care for their pa- tients. ..... Ford N, Shubber Z, Calmy A,. Irvine C, Rapparini C, Ajose O, et al. Choice of antiretroviral ...

  7. 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

  8. Esophago-pleural fistula with multiple esophageal ulcers in human immunodeficiency virus infected patients: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Soo Hee; Lee, Young Kyung; Choi, Jae Phil; Son, Jin Sung [Seoul Medical Center, Seoul(Korea, Republic of)

    2014-03-15

    Esophagitis is a common complication in patients with human immunodeficiency virus (HIV) infection. Esophagitis in HIV infected patient is caused by candidiasis, cytomegalovirus, herpes simplex virus, or idiopathic esophagitis with no detectable etiology. Esophagitis in HIV infected patient is occasionally combined with esophageal ulcers. We report chest CT findings and clinical manifestation of esophago-pleural fistula with pneumothorax in a HIV infected patient, who was treated for aspiration pneumonia and esophageal ulcers.

  9. Syncope: epidemiology, etiology and prognosis.

    Directory of Open Access Journals (Sweden)

    Rose M F Lisboa Da Silva

    2014-12-01

    Full Text Available Syncope is a common medical problem, with a frequency between 15% and 39%. In the general population, the annual number episodes are 18.1 to 39.7 per 1000 patients, with similar incidence between genders. The first report of the incidence of syncope is 6.2 per 1000 person-years. However, there is a significant increase in the incidence of syncope after 70 years of age with rate annual 19.5 per thousand individuals after 80 years. It presents a recurrence rate of 35% and 29% of physical injury. Among the causes of syncope, the mediated neural reflex, known as neurocardiogenic or vasovagal syncope, is the most frequent. The others are of cardiac origin, orthostatic hypotension, carotid sinus hypersensitivity, neurological and endocrinological causes and psychiatric disorders. The diagnosis of syncope can be made by clinical method associated with the electrocardiogram in up 50% of patients. Its prognosis is determined by the underlying etiology specifically the presence and severity of cardiac disease. The annual mortality can reach between 18 and 33% if cardiac cause, and between 0 and 12% if the noncardiac cause. Thus, it is imperative to identify its cause and risk stratification for positive impact in reducing morbidity and mortality.

  10. Priapism: etiology, pathophysiology and management

    Directory of Open Access Journals (Sweden)

    Van Der Horst C.

    2003-01-01

    Full Text Available The understanding of erectile physiology has improved the prompt diagnosis and treatment of priapism. Priapism is defined as prolonged and persistent erection of the penis without sexual stimulation and failure to subside despite orgasm. Numerous etiologies of this condition are considered. Among others a disturbed detumescence mechanism, which may due to excess release of contractile neurotransmitters, obstruction of draining venules, malfunction of the intrinsic detumescence mechanism or prolonged relaxation of intracavernosal smooth muscle are postulated. Treatment of priapism varies from a conservative medical to a drastic surgical approach. Two main types of priapism; veno-occlusive low flow (ischemic and arterial high flow (non-ischemic, must be distinguished to choose the correct treatment option for each type. Patient history, physical examination, penile hemodynamics and corporeal metabolic blood quality provides distinction between a static or dynamic pathology. Priapism can be treated effectively with intracavernous vasoconstrictive agents or surgical shunting. Alternative options, such as intracavernous injection of methylene blue (MB or selective penile arterial embolization (SPEA, for the management of high and low flow priapism are described and a survey on current treatment modalities is given.

  11. Melasma. Etiologic and therapeutic considerations.

    Science.gov (United States)

    Grimes, P E

    1995-12-01

    Melasma is a common acquired symmetric hypermelanosis characterized by irregular light- to gray-brown macules and patches involving sun-exposed areas of skin. Etiologic factors in the pathogenesis of melasma include genetic influences, exposure to UV radiation, pregnancy, hormonal therapies, cosmetics, phototoxic drugs, and antiseizure medications. Melasma is often a therapeutically challenging disease, and current treatments include hypopigmenting agents, chemical peels, and lasers. Hypopigmenting agents include phenolic and nonphenolic derivatives. Phenolic agents include hydroquinone and hydroquinone combination preparations. Despite controversies regarding the issue of hydroquinone-induced ochronosis, hydroquinone remains the most effective topically applied bleaching agent approved by the Food and Drug Administration for the treatment of melasma. Nonphenolic bleaching agents include tretinoin and azelaic acid. Superficial, medium, and deep chemical peels are more often used in lighter-complexioned patients. Such peels should be used with caution in blacks. Although lasers have demonstrated significant efficacy in the treatment of a variety of hyperpigmentary disorders, their precise efficacy and place in the therapy of melasma have yet to be established. In the hierarchy of therapies for melasma, the treating physician must consider the devastating psychosocial impact of pigmentary imperfections within the realm of the benefits and risks associated with each treatment.

  12. Systematic review of vestibular disorders related to human immunodeficiency virus and acquired immunodeficiency syndrome.

    Science.gov (United States)

    Heinze, B; Swanepoel, D W; Hofmeyr, L M

    2011-09-01

    Disorders of the auditory and vestibular system are often associated with human immunodeficiency virus infection and acquired immunodeficiency syndrome. However, the extent and nature of these vestibular manifestations are unclear. To systematically review the current peer-reviewed literature on vestibular manifestations and pathology related to human immunodeficiency virus and acquired immunodeficiency syndrome. Systematic review of peer-reviewed articles related to vestibular findings in individuals with human immunodeficiency virus infection and acquired immunodeficiency syndrome. Several electronic databases were searched. We identified 442 records, reduced to 210 after excluding duplicates and reviews. These were reviewed for relevance to the scope of the study. We identified only 13 reports investigating vestibular functioning and pathology in individuals affected by human immunodeficiency virus and acquired immunodeficiency syndrome. This condition can affect both the peripheral and central vestibular system, irrespective of age and viral disease stage. Peripheral vestibular involvement may affect up to 50 per cent of patients, and central vestibular involvement may be even more prevalent. Post-mortem studies suggest direct involvement of the entire vestibular system, while opportunistic infections such as oto- and neurosyphilis and encephalitis cause secondary vestibular dysfunction resulting in vertigo, dizziness and imbalance. Patients with human immunodeficiency virus and acquired immunodeficiency syndrome should routinely be monitored for vestibular involvement, to minimise functional limitations of quality of life.

  13. Epidemiological Patterns of Human Immunodeficiency Virus and ...

    African Journals Online (AJOL)

    Olaleye

    ajol.com. Received: July 2007. Accepted (Revised):. October 2007. Published. January 2008. Full Length Research Article. Epidemiological Patterns of Human. Immunodeficiency Virus and Herpes Simplex. Virus Co-Infection in Ibadan, Nigeria.

  14. Learning about Severe Combined Immunodeficiency (SCID)

    Science.gov (United States)

    Skip to main content Learning About Severe Combined Immunodeficiency (SCID) Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding ...

  15. Perceptions and knowledge about the acquired immunodeficiency ...

    African Journals Online (AJOL)

    Perceptions and knowledge about the acquired immunodeficiency syndrome among students in university residences. R.H. Friedland, S.K. Jankelowitz, M de Beer, C De Klerk, V. Khoury, T. Csizmadia, G.N. Padayachee, S. Levy ...

  16. Oral Manifestations of Human Immunodeficiency Virus Infection

    OpenAIRE

    Epstein, Joel B.; Mathias, Richard G.

    1988-01-01

    The AIDS epidemic continues. All health-care workers, including physicians and dental personnel, may be instrumental in recognizing risk factors associated with Acquired Immunodeficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) infection. Oral signs and symptoms of HIV infection may be the first presentation of the disease or may develop during the course of the disease and require management. Knowledge of the signs, symptoms and associated infections and tumours is needed to as...

  17. Psychosocial issues in pediatric human immunodeficiency virus.

    Science.gov (United States)

    Adler, R K

    2000-01-01

    This article discusses the psychosocial issues associated with pediatric human immunodeficiency virus and acquired immunodeficiency syndrome (HIV/AIDS). Using a psychosocial model instead of the usual medical or rehabilitation model will challenge speech-language pathologists to incorporate an understanding of the psychosocial stresses that affect a child's progression through HIV/AIDS and ensure that they receive adequate consideration in a total treatment model. A case study illustrates the relationship between communication disorders and HIV/AIDS.

  18. [Etiology and diagnosis of intellectual disability].

    Science.gov (United States)

    Yang, Pu; Gui, Bao-Heng; Wu, Ling-Qian

    2015-06-01

    Intellectual disability, occurring in 1%-3% of the general population, is a common disease of the nervous system in children. Since diverse genetic and environmental factors contribute to its pathogenesis, the etiological diagnosis of intellectual disability is challenging with respect to the selection of diagnostic tests. It is important to determine the etiology of intellectual disability for the assessment of prognosis, treatment and the family plan. This paper summarizes the research progress in etiology and diagnosis for intellectual disability and introduces the recommended clinical genetics diagnostic approach from the American Academy of Pediatrics.

  19. Fibromyalgia in 300 adult index patients with primary immunodeficiency.

    Science.gov (United States)

    Barton, James C; Bertoli, Luigi F; Barton, Jackson C; Acton, Ronald T

    2017-01-01

    We sought to determine the prevalence and clinical and laboratory associations of fibromyalgia in adults with primary immunodeficiency (immunoglobulin (Ig) G subclass deficiency (IgGSD) and common variable immunodeficiency (CVID). We performed a retrospective analysis of these observations in 300 non-Hispanic white adult index patients with recurrent/severe respiratory tract infections and IgGSD or CVID: age; sex; IgGSD; fibromyalgia; chronic fatigue; autoimmune conditions (ACs); interstitial cystitis (IC); diabetes; body mass index; serum Ig isotypes; blood lymphocytes and subsets; and human leukocyte antigen (HLA)-A and -B types and haplotypes. We performed univariate comparisons, logistic multivariable regressions, and an analysis of covariance. Mean age was 49 ± 12 (standard deviation) y. There were 246 women (82.0%). IgGSD was diagnosed in 276 patients (92.0%). Fifty-six patients had fibromyalgia (18.7%; female:male 13:1). Other characteristics included: chronic fatigue, 63.0%; aggregate ACs, 35.3%; Sjögren's syndrome, 8.0%; IC, 3.0%; diabetes, 10.3%; and HLA-A*29, B*44 positivity, 9.7%. Prevalences of female sex; chronic fatigue; IC; and HLA-A*29, B*44 positivity were greater in patients with fibromyalgia. Logistic regression on fibromyalgia revealed three positive associations: chronic fatigue (p=0.0149; odds ratio 2.6 [95% confidence interval 1.2, 5.6]); Sjögren's syndrome (p=0.0004; 5.2 [2.1, 13.2]); and IC (p=0.0232; 5.7 [1.3, 25.7]). In an analysis of covariance, there were significant interactions of chronic fatigue, Sjögren's syndrome, and interstitial cystitis on fibromyalgia. Fibromyalgia is common in non-Hispanic white adult index patients with primary immunodeficiency, especially women. Chronic fatigue, Sjögren's syndrome, and IC are significantly associated with fibromyalgia after adjustment for other independent variables.

  20. Primary immunodeficiencies underlying fungal infections.

    Science.gov (United States)

    Lanternier, Fanny; Cypowyj, Sophie; Picard, Capucine; Bustamante, Jacinta; Lortholary, Olivier; Casanova, Jean-Laurent; Puel, Anne

    2013-12-01

    We review the primary immunodeficiencies (PIDs) underlying an increasing variety of superficial and invasive fungal infections. We also stress that the occurrence of such fungal infections should lead physicians to search for the corresponding single-gene inborn errors of immunity. Finally, we suggest that other fungal infections may also result from hitherto unknown inborn errors of immunity, at least in some patients with no known risk factors. An increasing number of PIDs are being shown to underlie fungal infectious diseases in children and young adults. Inborn errors of the phagocyte NADPH oxidase complex (chronic granulomatous disease), severe congenital neutropenia (SCN) and leukocyte adhesion deficiency type I confer a predisposition to invasive aspergillosis and candidiasis. More rarely, inborn errors of interferon-γ immunity underlie endemic mycoses. Inborn errors of interleukin-17 immunity have recently been shown to underlie chronic mucocutaneous candidiasis (CMC), while inborn errors of caspase recruitment domain-containing protein 9 (CARD9) immunity underlie deep dermatophytosis and invasive candidiasis. CMC, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis, and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive of a specific type of PID. In the absence of overt risk factors, single-gene inborn errors of immunity should be sought in children and young adults with these and other fungal diseases.

  1. Etiological approach to chronic urticaria

    Directory of Open Access Journals (Sweden)

    Krupa Shankar D

    2010-01-01

    Full Text Available Background: In 1769, William Cullen introduced the word "urticaria" (transient edematous papules, plaque with itching. Urticaria affects 15-25% of people at least once in their life time. It is a clinical reaction pattern triggered by many factors causing the liberation of vasoactive substances such as histamine, prostaglandins and kinins. Urticaria is classified according to its duration into acute (< 6 weeks duration and chronic (>6 weeks duration. Various clinical investigations may be initiated to diagnosis the cause. Aims: To evaluate the types of chronic urticaria with reference to etiology from history and investigations . Materials and Methods: A total of 150 patients with chronic urticaria of more than six weeks were studied. Autologous serum skin test (ASST was performed after physical urticarias were excluded. Standard batteries of tests were performed after ASST in all patients; and other specific investigations were done where necessary. Skin prick test was done in idiopathic urticaria. Results: The study sample consisted of 62 male and 88 female patients with a mean age of 21-40 years. About 50% of patients showed an ASST positive reaction, 3.9% were positive for antinuclear antibody (ANA, IgE titer was elevated in 37%, H. pylori antibodies was positive in 26.7%. Thyroid antibodies were positive in 6.2%. Giardia and entamoeba histolytica was reported in 3.3% on routine stool examination and on urinalysis 8% had elevated WBC counts; 12% showed para nasal sinusitis, with maxillary sinusitis of 7.3%. Random blood sugar was high in 5.3%. Four patients had ASOM, two had positive KOH mount for dermatophytes, abdominal USG showed cholecystitis in two patients. Recurrent tonsillitis was noted in two patients. Urticaria following intake of NSAIDs was observed in four patients and with oral contraceptive pills in one patient. Contact urticaria to condom (latex was seen in one patient. Cholinergic (4.7% and dermographic (4.7% urticaria were

  2. Musculoskeletal etiologies of pelvic pain.

    Science.gov (United States)

    Prather, Heidi; Camacho-Soto, Alejandra

    2014-09-01

    Several musculoskeletal diagnoses are frequently concomitant with pelvic floor pathology and pain. The definition of pelvic pain itself often depends on the medical specialist evaluating the patient. Because there is variability among disorders associated with pelvic pain, patients may seek treatment for extended periods as various treatment options are attempted. Further, health care providers should recognize that there may not be a single source of dysfunction. This article discusses the musculoskeletal disorders of the pelvic girdle (structures within the bony pelvis) and their association with lumbar spine and hip disorders. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Etiology of Cervicitis and Treatment with Minocycline

    Directory of Open Access Journals (Sweden)

    William R Bowie

    1993-01-01

    Full Text Available Objective: To evaluate the etiology of cervicitis using the recommended Canadian definition, and to evaluate the efficacy and tolerability of seven days of minocycline treatment, 100 versus 200 mg at bedtime.

  4. Etiology of Shock in the Emergency Department

    DEFF Research Database (Denmark)

    Holler, Jon Gitz; Jensen, Helene Kildegaard; Henriksen, Daniel Pilsgaard

    2018-01-01

    were included. Discharge diagnoses defined the etiology and were grouped as; distributive septic shock (SS), distributive non-septic shock (NS)), cardiogenic shock (CS), hypovolemic shock (HS), obstructive shock (OS) and other conditions (OC). Outcomes were etiology-based characteristics, annual IR per......INTRODUCTION: The knowledge of the etiology and associated mortality of undifferentiated shock in the emergency department (ED) is limited. We aimed to describe the etiology based proportions and incidence rates (IR) of shock, as well as the associated mortality in the ED. METHODS: Population......-based cohort study at an University Hospital ED in Denmark from January 1, 2000, to December 31, 2011. Patients aged ≥18 years living in the ED-catchment area (N = 225,000) with a first time ED presentation with shock (n = 1,646) defined as hypotension (systolic blood pressure ≤100 mmHg)) and ≥1 organ failures...

  5. Rhabdomyolysis with different etiologies in childhood

    OpenAIRE

    Alaygut, Demet; Torun Bayram, Meral; Kasap, Belde; Soylu, Alper; Türkmen, Mehmet; Kavukcu, Salih

    2017-01-01

    AIM To investigate different etiologies and management of the rhabdomyolysis in children. METHODS Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the...

  6. Extraintestinal rotavirus infections in children with immunodeficiency.

    Science.gov (United States)

    Gilger, M A; Matson, D O; Conner, M E; Rosenblatt, H M; Finegold, M J; Estes, M K

    1992-06-01

    Some rotavirus strains, including vaccine candidates, have been demonstrated to cause hepatitis in immunodeficient and malnourished mice and to grow in human liver cells. To determine whether rotavirus spreads outside the intestine in naturally infected children, we examined tissues from four immunodeficient children affected with severe combined immunodeficiency disease, acquired immunodeficiency disease syndrome, or DiGeorge syndrome. Chronic rotavirus-related diarrhea, which persisted until death, had also developed in each child. Using indirect immunoperoxidase techniques, we identified rotavirus antigen in the liver and kidney with a hyperimmune guinea pig antiserum prepared to double-shelled rotavirus particles. Similar immunostaining with an antiserum to a rotavirus nonstructural protein (NS26) provided evidence of active virus replication. The observed reactivity was eliminated specifically when serial sections were immunostained with the same antiserum that had been absorbed with either double-shelled rotavirus particles or NS26. Immunostaining was not observed in the liver of children with other diseases (alpha 1-antitrypsin deficiency, inspissated bile syndrome, and acute rejection of a transplanted liver). These findings demonstrate that rotavirus infections in children can extend beyond the intestinal tract. Further studies are warranted to determine whether extraintestinal rotavirus replication occurs in children without severe immunodeficiency, such as malnourished children.

  7. Occurrence of intestinal microsporidia in immunodeficient patients in Poland

    Directory of Open Access Journals (Sweden)

    Małgorzata Bednarska

    2014-06-01

    Full Text Available Microsporidial infections may be asymptomatic in immunocompetent hosts, but can be severe and disseminated in HIV/AIDS patients, children, the elderly, or in immunocompromised individuals, including those with primary or medically-induced immunodeficiencies. 209 faecal samples were collected from 80 clinical patients, with or without abdominal symptoms, and tested for the presence of the parasites. Microsporidia were found in 10 of the 80 patients (12.5% using trichrom staining of faecal smears and/or PCR. [i]Encephalitozoon[/i] intestinalis and 1 unidentified species were identified in 2 of the 32 children with primary immunodeficiencies (6%, presenting with diarrhoea, including one co-infection with [i]Cryptosporidium meleagridis[/i]. In the group of patients with medically-induced immunosuppression (transplant recipients, 8 of the 48 patients (17% were tested positive for microsporidia. Thus, these pathogens should be taken into account when the other etiological agents cannot be found in diarrheic patients with PIDs or undergoing immunosuppressive treatment before or after transplantation. This article presents the results of the first epidemiological study on the ccurrence and prevalence of microsporidia in patients with primary and secondary immunodeficiency in Poland.

  8. Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders.

    Science.gov (United States)

    Singhi, Aatur D; Goyal, Alka; Davison, Jon M; Regueiro, Miguel D; Roche, Robyn L; Ranganathan, Sarangarajan

    2014-04-01

    . Although anti-enterocyte antibodies were identified in the majority of the cases, their presence was variable and insensitive. In addition, pediatric autoimmune enteropathy was frequently encountered in the setting of immunodeficiency disorders.

  9. [Revertant somatic mosaicism in primary immunodeficiency diseases].

    Science.gov (United States)

    Wada, Taizo

    2014-01-01

    Revertant somatic mosaicism has been described in an increasing number of genetic disorders including primary immunodeficiency diseases. Both back mutations leading to restoration of wild-type sequences and second-site mutations resulting in compensatory changes have been demonstrated in mosaic individuals. Recent studies identifying revertant somatic mosaicism caused by multiple independent genetic changes further support its frequent occurrence in primary immunodeficiency diseases. Revertant mosaicism acquires a particular clinical relevance because it may lead to selective growth advantage of the corrected cells, resulting in improvement of disease symptoms or atypical clinical presentations. This phenomenon also provides us unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. Here we review the recent findings of revertant somatic mosaicism in primary immunodeficiency diseases and discuss its clinical implications.

  10. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

    Science.gov (United States)

    Velasco, Guillaume; Walton, Emma L; Sterlin, Delphine; Hédouin, Sabrine; Nitta, Hirohisa; Ito, Yuya; Fouyssac, Fanny; Mégarbané, André; Sasaki, Hiroyuki; Picard, Capucine; Francastel, Claire

    2014-04-17

    Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly related to a genomic methylation defect that mainly affects juxtacentromeric heterochromatin regions of certain chromosomes, leading to chromosomal rearrangements that constitute a hallmark of this syndrome upon cytogenetic testing. Mutations in the de novo DNA methyltransferase DNMT3B, the protein ZBTB24 of unknown function, or loci that remain to be identified, lie at its origin. Despite unifying features, common or distinguishing molecular signatures are still missing for this disease. We used the molecular signature that we identified in a mouse model for ICF1 to establish transcriptional biomarkers to facilitate diagnosis and understanding of etiology of the disease. We assayed the expression and methylation status of a set of genes whose expression is normally restricted to germ cells, directly in whole blood samples and epithelial cells of ICF patients. We report that DNA hypomethylation and expression of MAEL and SYCE1 represent robust biomarkers, easily testable directly from uncultured cells to diagnose the most prevalent sub-type of the syndrome. In addition, we identified the first unifying molecular signatures for ICF patients. Of importance, we validated the use of our biomarkers to diagnose a baby born to a family with a sick child. Finally, our analysis revealed unsuspected complex molecular signatures in two ICF patients suggestive of a novel genetic etiology for the disease. Early diagnosis of ICF syndrome is crucial since early immunoglobulin supplementation can improve the course of disease. However, ICF is probably underdiagnosed, especially in patients that present with incomplete phenotype or born to families with no affected relatives. The specific and robust

  11. ETIOLOGICAL FACTORS OF CHRONIC GASTRITIS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    G.V. Volynets

    2006-01-01

    Full Text Available In the article the data on the study of the etiological factors of various types of chronic gastritis in children are presented. Based on revealing of the auto antibodies to parietal gastric cells in 40,0% of children autoimmune gastritis (a type gastritis is diagnosed. Helicobacterr pylori infection is revealed in 44,8% of children. In 27,6% of children type c gastritis is diagnosed. Autoimmune gastritis in children has been linked to the active phase of chronic epsteinbbarr virus infection. the etiological factors of nonautoimmune gastritis are Helicobacter pylori infection (type b gastritis and multiple duodenogastric refluxes (type c gastritis.Key words: children, chronic gastritis, etiological factors, autoimmune gastritis, nonautoimmune gastritis, active phase of chronic Epstein-Barr virus infection, Helicobacter pylori infection.

  12. ETIOLOGICAL FACTORS FOR VOCAL FOLD POLYP FORMATION

    Directory of Open Access Journals (Sweden)

    DAŠA GLUVAJIĆ

    2016-05-01

    Full Text Available Background: Vocal fold polyp is one of the most common causes for hoarseness. Many different etiological factors contribute to vocal fold polyp formation. The aim of the study was to find out whether the etiological factors for polyp formation have changed in the last 30 years.Methods: Eighty-one patients with unilateral vocal fold polyp were included in the study. A control group was composed of 50 volunteers without voice problems who matched the patients by age and gender. The data about etiological factors and the findings of phoniatric examination were obtained from the patients' medical documentation and from the questionnaires for the control group. The incidence of etiological factors was compared between the two groups. The program SPSS, Version 18 was used for statistical analysis.Results: The most frequent etiological factors were occupational voice load, GER, allergy and smoking. In 79% of patients 2 – 6 contemporary acting risk factors were found. Occupational voice load (p=0,018 and GER (p=0,004 were significantly more frequent in the patients than in the controls. The other factors did not significantly influence the polyp formation.Conclusions: There are several factors involved simultaneously in the formation of vocal fold polyps both nowadays and 30 years ago. Some of the most common factors remain the same (voice load, smoking, others are new (GER, allergy, which is probably due to the different lifestyle and working conditions than 30 years ago. Occupational voice load and GER were significantly more frequently present in the patients with polyp than in the control group. Regarding the given results it is important to instruct workers with professional vocal load about etiological factors for vocal fold polyp formation.

  13. Quemaduras y etiología medicolegal Burns and medicolegal etiology

    Directory of Open Access Journals (Sweden)

    Héctor Barreiro Ramos

    2006-12-01

    Full Text Available Las muertes por quemaduras plantean a la instrucción policial y al médico legista diversos problemas, entre los que se encuentran, determinar su causa medicolegal, es decir, si se trata de un homicidio, suicidio o accidente, pero para tan trascendental afirmación solo contamos con las versiones de testigo del hecho, sin contar con los elementos científicos que nos orienten, como pudiera ser algún indicador somático o de otro tipo. En tal caso nos preguntamos si existen variables que nos orienten en la causa medicolegal de la muerte. El propósito, por tanto, del trabajo consiste en evaluar un grupo de variables como posibles indicadores de la causa medicolegal de las muertes por llamas. El universo de trabajo fueron 135 fallecidos atendidos en el Centro Provincial de Medicina Legal de La Habana en el decenio 1994-2003, y la muestra la formaron 75 de ellos. Los resultados señalan que el 62 % de los fallecidos fueron suicidios, el 32 % accidentes y el 5 % homicidios, con un predominio del sexo femenino. El suicidio tiene una media de 70 años, para el accidente es 45, y para el homicidio 58. El lugar del hecho más frecuente fue la casa. El agente causal más encontrado fue en primer lugar el alcohol y en segundo el queroseno; en el suicidio el alcohol fue el más empleado, mientras que en el accidente, por el contrario, el más causal fue el queroseno. En el homicidio solo se empleó el alcohol. Se concluye que no existe un solo indicador que nos pueda confirmar la etiología medicolegal de estas muertes, pero el conjunto de ellos sí nos puede señalar con bastante certeza la causa probable.Deaths caused by burns pose diverse problems to the police instruction and to the legist physician. One of these problems is to determine its medicolegal cause, that is, wether it is a homicide, suicide or accident, but for such a trascendental affirmation we only have the versions of the witness, without the scientific elements that may orientate us

  14. [Tendinitis in athletes: etiology, diagnosis and treatment].

    Science.gov (United States)

    Gremion, G; Zufferey, P

    2015-03-11

    Tendinopathy is one of the most common diagnosis in sports. Knowledges about their etiology, the repair process to their diagnosis and their treatment have improved thanks to the development of imaging, especially ultra- sound. The disorder whose etiology could be mechanical or degenerative can cause long- term disability and sometimes the end of the sport carreer. The risk of reccurence is com- mon; this may lead to tendon rupture whose functional effects can be significative. The management should be early: it must respect the deadlines for tendon healing and pro- pose a gradual recovery efforts after elimina tion of the contributing factors involved.

  15. Intrauterine growth retardation (IUGR): epidemiology and etiology.

    Science.gov (United States)

    Romo, Agustín; Carceller, Raquel; Tobajas, Javier

    2009-02-01

    Intrauterine growth retardation (IUGR) is mainly due to a pathologic slow-down in the fetal growth pace, resulting in a fetus that is unable to reach its growth potential. IUGR frequency will vary depending on the discrimination criteria adopted. It is extremely important to use local or national fetal growth graphs in order to avoid some confounding factors. IUGR incidence in newborns would be between 3% and 7% of the total population. In our experience it is 5.13% a figure similar to the one obtained by other authors but with a progressively higher incidence during the last decade. There are multiple maternal factors that can generally be grouped into constitutional and general factors given that they affect age, weight, race, maternal cardiac volume, etc, socioeconomic factors with key incidence in the mother's nutrition level, where a poor maternal nutrition level would be the key factor in this group. We have evaluated multiple factors as possible contributors to the IUGR risk: race, parents' age, mother's height (cm), mother's birth weight and before pregnancy (kg), ponderal gain and blood pressure during pregnancy, and previous SGA newborns. Socioeconomic factors like social class, parents' profession, habitual residence, salary, immigration, and diet were also evaluated. We also included variables such as total daily working time and time mothers spent standing up, daily sleeping time (hrs), stress self-perception test at work and primiparity age. Toxic factors during pregnancy: tobacco (active and passive), alcohol, drugs and coffee consumption. Fetal or utero-placental factors were considered. In our study, the most significant etiologic factors were: Active and passive tobacco consuming, mother's stress level, increase of total months worked during pregnancy, total daily working hours and time mothers spent standing up and finally, the parent's height. Our data support the main objective of reducing the incidence of SGA newborns after IUGR by fighting

  16. Human immunodeficiency virus type 2: pathogenesis and antiretroviral therapy

    NARCIS (Netherlands)

    M.E. van der Ende (Marchina)

    2000-01-01

    textabstractHuman immunodeficiency virus type1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), and simian immunodeficiency virus (SIV) have been identified as hither unknown primate members of the Lentivirinae subfamily of the family Retroviridae in 1983, 1986 and 1985 respectively, HIV-1

  17. Human Immunodeficiency Virus Related Knowledge, Risk ...

    African Journals Online (AJOL)

    University, Kaski, Nepal,3Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India, 5Department of. Obstetrics and Gynecological Nursing, Institute of Nursing science, KLE University, Belgaum, Karnataka, India. Abstract. Background: Despite the implementation of anti‑human immunodeficiency virus ...

  18. Tools for genotyping human immunodeficiency virus, and ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-12-29

    Dec 29, 2008 ... Janini LM, Tanuri A, Schechter M, Peralta JM, Vicente AC, Dela Torre. N, Pieniazek NJ, Luo CC, Ramos A, Soriano V, Schochetman G,. Rayfield MA, Pieniazek D (1998). Horizontal and vertical transmission of human immunodeficiency virus type 1 dual infections caused by viruses of subtypes B and C. J ...

  19. 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 ...

  20. 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: ...

  1. 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 ...

  2. Human Immunodeficiency Virus Infection among Psychiatric ...

    African Journals Online (AJOL)

    Background: Psychiatric patients are considered high risked group for Human immunodeficiency virus (HIV) infection. This has been found to be as a result of poor judgment and irrationality associated with some of the disorders. However, there is dearth of literature on the prevalence of HIV infection among psychiatric ...

  3. Clinical characteristics of Human Immunodeficiency Virus (HIV ...

    African Journals Online (AJOL)

    Renal failure is a common finding in human immunodeficiency virus infected patients, and it contributes significantly to their morbidity and mortality. Most dialysis centres in Nigeria currently do not accept HIV positive patients for dialysis therapy for many reasons. The prevailing high level of stigmatization of HIV positive ...

  4. Transurethral prostatectomy in human immunodeficiency virus ...

    African Journals Online (AJOL)

    Human immunodeficiency virus (HIV) infection is increasing world-wide and highly active antiretroviral treatment. (HAAT) is allowing afflicted individuals to live near normal life span and acquire surgical diseases of the aged as in the unaffected population. This pose occupational hazards to operating surgeons especially in ...

  5. Dental Practice, Human Immunodeficiency Virus Transmission and ...

    African Journals Online (AJOL)

    The acquired immune deficiency syndrome (AIDS) is a major cause of death in Africa today and it is estimated that 80% of the over 40 million people living with human immunodeficiency virus (HIV)/AIDS (PLWHA) world-wide are residing in sub-Saharan countries.[1] In Nigeria, AIDS was first reported in 1986 following the ...

  6. 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 ...

  7. Seroprevalence of Human Immunodeficiency Virus, Hepatitis B ...

    African Journals Online (AJOL)

    Gonçales FL Jr, Pereira JS, Da Silva C, Thomaz GR, Pavan MH,. Fais VC, et al. Hepatitis B virus DNA in sera of blood donors and of patients infected with hepatitis C virus and human immunodeficiency virus. Clin Diagn Lab Immunol. 2003;10:718‑20. 25. Bahaf F, Tanomand A, Montazam H, Sany AA. Seroprevalence.

  8. Attitudes of patients towards voluntary human immunodeficiency ...

    African Journals Online (AJOL)

    Attitudes of patients towards voluntary human immunodeficiency virus counselling and testing in two Nigerian tertiary hospitals. ... Asked Questions about PDFs. Alternatively, you can download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download ...

  9. Human Immunodeficiency Virus Infection Occupational Post ...

    African Journals Online (AJOL)

    opsig

    potentially infected body fluids so that they can present themselves rapidly for risk assessment and commencement of ART if necessary in the event of an occupational exposure to HIV. INTRODUCTION. Human Immunodeficiency Virus (HIV) is the virus that causes Acquired Immune Deficiency Syndrome. (AIDS). It can be ...

  10. Human immunodeficiency virus infection among migrant fishermen ...

    African Journals Online (AJOL)

    Background: People migrate from place to place for diverse reasons chief among which is economic. Migrant fishermen like other migrant population lead high risk sexual lifestyle and are therefore, predisposed to Human immunodeficiency virus (HIV) infection. Aim: To determine the prevalence of HIV among migrant ...

  11. Acquired immunodeficiency syndrome with subacute sclerosing panencephalitis.

    Science.gov (United States)

    Gowda, Vykuntaraju K N; Sukanya, V; Shivananda

    2012-11-01

    A 7-year-old boy with acquired immunodeficiency syndrome, receiving antiretroviral drugs for 2 years, presented with a recent onset of myoclonic jerks and cognitive deterioration. On examination, he manifested myoclonic jerks once every 10-15 seconds. His electroencephalogram indicated periodic complexes, and his cerebrospinal fluid tested positive for measles antibodies. Copyright © 2012 Elsevier Inc. All rights reserved.

  12. Newborn screening for severe primary immunodeficiencies

    OpenAIRE

    Borte, Stephan

    2014-01-01

    Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. This is often accompanied by severe recurrent infections with drug-resistant, long progressions. In addition, there are associated immune regulation disorders, which may manifest themselves in granuloma formation, autoimmunity, recurrent fever, eczema, lymphoproliferation and chronic intestinal inflammation. More than 240 ...

  13. 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 ...

  14. 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 ...

  15. Dental Practice, Human Immunodeficiency Virus Transmission and ...

    African Journals Online (AJOL)

    Background: More than 40 oral manifestations of human immunodeficiency virus (HIV) infection have been recorded and between 70% and 90% of persons with HIV infection will have at least one oral manifestation at some time during the course of their disease. Oral health-care workers (OHCWs) are therefore, key players ...

  16. Haematological Changes in Human immunodeficiency Virus ...

    African Journals Online (AJOL)

    Haematological Changes in Human immunodeficiency Virus Infected Pregnant Women in Benin City, Nigeria. ... A differential leucocyte count was also done by the thin blood film method, stained with Leishman stain and examined microscopically. The erythrocyte sedimentation rate (ESR) was carried out using the

  17. 110 HUMAN IMMUNODEFICIENCY VIRUS (HIV) SEROPOSITIVITY ...

    African Journals Online (AJOL)

    ABSTRACT. 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 ...

  18. Treatment Outcomes among Human Immunodeficiency Virus and ...

    African Journals Online (AJOL)

    The complex interactions between Human Immunodeficiency Virus (HIV) and Tuberculosis (TB) infections may be magnified, in the presence of another potentially stressful condition like pregnancy. Though co-infection among pregnant women is rare, treatment outcomes may depend on accessibility to comprehensive ...

  19. Human Immunodeficiency Virus Seroconversion and Associated ...

    African Journals Online (AJOL)

    syphilis during ANC visit (P < 0.001) were found to be independent predictors of HIV seroconversion among pregnant women ... The syphilis screening among pregnant women in the ANC in Tanzania is based on the Venereal Disease ... booked at 4 months of gestation age [Table 1]. Human immunodeficiency virus ...

  20. Comparative periodontal status of human immunodeficiency virus ...

    African Journals Online (AJOL)

    P. M. B. 12003, Idi-Araba, Lagos, Nigeria. E-mail: kumeiz09@gmail.com. Introduction. Exacerbated chronic periodontitis is part of the spectrum of periodontal diseases that has been described in association with the human immunodeficiency virus (HIV) infection. As far back as the early 1990s, studies exploring the possible.

  1. Determinants of risk behavior for human immunodeficiency virus/acquired immunodeficiency syndrome in people with severe mental illness.

    Science.gov (United States)

    Rosenberg, S D; Trumbetta, S L; Mueser, K T; Goodman, L A; Osher, F C; Vidaver, R M; Metzger, D S

    2001-01-01

    We examined the prevalence and correlates of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) risk behaviors in a large sample of severely mentally ill (SMI) patients. Risk levels were correlated with demographic factors, diagnosis, symptom severity, trauma history, post-traumatic stress disorder (PTSD), substance use disorder (SUD), and sexual orientation. SMI clients from urban and rural settings (N = 275) were assessed regarding HIV/AIDS risk behaviors, and hypothesized risk factors. Patients exhibited substantial levels of risky behavior, particularly sexual risk. Correlates of increased risk included SUD, trauma, male homosexual orientation, younger age, and symptom severity. Structural equation modeling identified SUD and sexual orientation as the primary determinants of both drug and sexual risk behavior. We conclude that specific illness related variables appear to have less impact on risk behavior among people with SMI than previously hypothesized. Substance abuse prevention and treatment may be the most effective means of reducing HIV risk in this population. Copyright 2001 by W.B. Saunders Company

  2. Diarrea crónica refractaria y malabsorción secundaria a hipogammaglobulinemia común variable, infestación crónica por giardia lamblia y gastrectomía total por adenocarcinoma gástrico: un manejo nutricional complejo Chonic diarrhea and malabsorption due to common variable immunodeficiency, gastrectomy and giardiasis infection: a difficult nutritional management

    OpenAIRE

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

    2011-01-01

    El adenocarcinoma gástrico es una de las causas más frecuentes de mortalidad en el mundo, siendo la cirugía el único tratamiento potencialmente curativo, aunque los efectos adversos digestivos y nutricionales son frecuentes y abundantes. La hipogammaglobulinemia variable común es causa de frecuentes manifestaciones digestivas, derivándose las más importantes en diarrea crónica causada por giardiasis, hiperplasia nodular linfoide o atrofia vellosa, siendo frecuente la malabsorción y la desnutr...

  3. Recent Research on the Etiologies of Autism.

    Science.gov (United States)

    Fisher, Eileen; Van Dyke, Don C.; Sears, Lonnie; Matzen, Jane; Lin-Dyken, Deborah; McBrien, Dianne M.

    1999-01-01

    Reviews recent research on the etiologies of autism, including genetic research, anatomic and neuroimaging studies, topics in neurophysiology research (including serotonin, dopamine, and opiods), immunologic research, studies of autism phenotype, and electroencephalographic studies. It concludes that, as of yet, research has found no clear…

  4. Oropharyngeal Dysphagia: neurogenic etiology and manifestation.

    Science.gov (United States)

    Sebastian, Swapna; Nair, Prem G; Thomas, Philip; Tyagi, Amit Kumar

    2015-03-01

    To determine the type, severity and manifestation of dysphagia in patients with neurogenic etiology. Clinical documentation was done on the different etiologies, its manifestation, assessment findings and management strategies taken for patients with neurogenic oropharyngeal dysphagia who were referred for assessment and management of dysphagia over a period of three months in a tertiary care teaching hospital. Flexible endoscopic examination was done in all the patients. The severity of dysphagia in these patients were graded based on Gugging Swallowing Screen (GUSS). A total of 53 patients with neurogenic oropharyngeal dysphagia were evaluated by an otolaryngologist and a speech language pathologist over a period of three months. The grading of severity based on GUSS for these patients were done. There were 30 patients with recurrent laryngeal nerve injury due to various etiologies, one patient with Neurofibroma-vestibular schwanoma who underwent surgical excision, 16 patients with stroke, two patients with traumatic brain injury, two patients with Parkinsonism and two patients with myasthenia gravis. The manifestation of dysphagia was mainly in the form of prolonged masticatory time, oral transit time, and increased number of swallows required for each bolus, cricopharyngeal spasms and aspiration. Among the dysphagia patients with neurogenic etiology, dysphagia is manifested with a gradual onset and is found to have a progressive course in degenerative disorders. Morbidity and mortality may be reduced with early identification and management of neurogenic dysphagia.

  5. Etiology and pathogenesis of adolescent idiopathic scoliosis

    NARCIS (Netherlands)

    Schlösser, Tom P C; Colo, Dino; Castelein, RM

    2015-01-01

    Despite many years of dedicated research into the etio-pathogenesis, not one single cause for adolescent idiopathic scoliosis has been identified. The purpose of this review is to give a comprehensive overview of the current evidence and main etiological theories. Intrinsic causal mechanisms are

  6. Etiology of Inguinal Hernias: A Comprehensive Review.

    Science.gov (United States)

    Öberg, Stina; Andresen, Kristoffer; Rosenberg, Jacob

    2017-01-01

    The etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women. The aim was to summarize the evidence on hernia etiology, with focus on differences between lateral and medial hernias. Lateral and medial hernias seem to have common as well as different etiologies. A patent processus vaginalis and increased cumulative mechanical exposure are risk factors for lateral hernias. Patients with medial hernias seem to have a more profoundly altered connective tissue architecture and homeostasis compared with patients with lateral hernias. However, connective tissue alteration may play a role in development of both subtypes. Inguinal hernias have a hereditary component with a complex inheritance pattern, and inguinal hernia susceptible genes have been identified that also are involved in connective tissue homeostasis. The etiology of lateral and medial hernias are at least partly different, but the final explanations are still lacking on certain areas. Further investigations of inguinal hernia genes may explain the altered connective tissue observed in patients with inguinal hernias. The precise mechanisms why processus vaginalis fails to obliterate in certain patients should also be clarified. Not all patients with a patent processus vaginalis develop a lateral hernia, but increased intraabdominal pressure appears to be a contributing factor.

  7. Human immunodeficiency virus antibody test and seroprevalence in psychiatric patients.

    Science.gov (United States)

    Naber, D; Pajonk, F G; Perro, C; Löhmer, B

    1994-05-01

    Psychiatric inpatients are at risk for human immunodeficiency virus (HIV) infection. Investigations in the United States revealed seroprevalence rates of 5.5-8.9%. Therefore, inclusion of HIV antibody testing in routine laboratory screening is sometimes suggested. To investigate this issue for inpatients in the Department of Psychiatry, University of Munich, the incidence, reason for HIV testing and results were analyzed. Of 12,603 patients, hospitalized from 1985 to 1993, 4.9% (623 patients, 265 in risk groups) underwent the HIV test after informed consent. Thirty patients (4.8% of those tested) were found to be positive, but only in 5 cases (all of risk groups) was infection newly detected. Data indicate that, in psychiatry, HIV testing is reasonable only in patients in risk groups or if clinical variables suggest HIV infection.

  8. [Acute hepatitis of unspecified etiology: etiological structure and clinical-laboratory characteristics].

    Science.gov (United States)

    Iushchuk, N D; Tsyganova, E V; Znoĭko, O O; Karetkina, G N; Solonin, S A; Mikhaĭlov, M I; Isaguliants, M G; Petrova, T V; Kashirin, V I; Cheshik, D S

    2009-01-01

    The straight line nucleic acids detection method of viruses and wide spectrum of virus antigens immunodiagnostics in acute hepatitis of unknown etiology patients has allowed verifying the diagnosis at 19% cases (a viral hepatitis A, C or E). Results of research do not allow to consider hepatotropic viruses HGV, TTV, PV B19, EBV, CMV, HHV 1, 2, 6 and 8 type, NV-F as etiological agents at the majority of patients of investigated group, and the data of the anamnesis and a clinical and laboratory picture of a current of disease does not allow to exclude at 29.4% of patients a drug-induced hepatitis. Despite detailed molecular-biological and immunological inspection of patients, at 37.9% of acute hepatitis of unknown etiology patients it was not possible to establish a connection with hepatitis and defined etiological factor (the infectious agent).

  9. Etiology, diagnosis, and demographic analysis of maxillofacial trauma in elderly persons: A 10-year investigation

    DEFF Research Database (Denmark)

    Possebon, Anna Paula da Rosa; Granke, Gabriela; Faot, Fernanda

    2017-01-01

    Purpose The aim of this study was to investigate etiologies and diagnoses of maxillofacial trauma in emergency services in Brazil over a period of 10 years. Additionally, associations among sex, age, accident location, and dependent variables were analyzed. Understanding the epidemiology of trauma...... (17.77%, p maxillofacial trauma in the elderly population were falls, and the primary diagnoses were fractures. Conclusion A deeper...

  10. Research advances in liver failure of unknown etiology

    Directory of Open Access Journals (Sweden)

    ZHU Bing

    2015-09-01

    Full Text Available A high proportion of the causes of liver failure remain unknown. This paper reviews the progress in the epidemiology, etiology, treatment, and prognosis of liver failure of unknown etiology. The possible causes of liver failure of unknown etiology may include occult hepatitis B virus infection, herpesvirus infection, transfusion-transmitted virus infection, hepatitis G virus infection, human parvovirus Bl9 infection, autoimmune and hepatitis. Aciclovir can be considered in the empirical treatment for patients with liver failure of unknown etiology. The mortality in patients with liver failure of unknown etiology is high. The research on the etiology and treatments should be strengthened.

  11. Romantic Relationship Satisfaction Moderates the Etiology of Adult Personality.

    Science.gov (United States)

    South, Susan C; Krueger, Robert F; Elkins, Irene J; Iacono, William G; McGue, Matt

    2016-01-01

    The heritability of major normative domains of personality is well-established, with approximately half the proportion of variance attributed to genetic differences. In the current study, we examine the possibility of gene × environment interaction (G×E) for adult personality using the environmental context of intimate romantic relationship functioning. Personality and relationship satisfaction are significantly correlated phenotypically, but to date no research has examined how the genetic and environmental components of variance for personality differ as a function of romantic relationship satisfaction. Given the importance of personality for myriad outcomes from work productivity to psychopathology, it is vital to identify variables present in adulthood that may affect the etiology of personality. In the current study, quantitative models of G×E were used to determine whether the genetic and environmental influences on personality differ as a function of relationship satisfaction. We drew from a sample of now-adult twins followed longitudinally from adolescence through age 29. All participants completed the Multidimensional Personality Questionnaire (MPQ) and an abbreviated version of the Dyadic Adjustment Scale. Biometric moderation was found for eight of the eleven MPQ scales examined: well-being, social potency, negative emotionality, alienation, aggression, constraint, traditionalism, and absorption. The pattern of findings differed, suggesting that the ways in which relationship quality moderates the etiology of personality may depend on the personality trait.

  12. Microscopic colitis: A review of etiology, treatment and refractory disease.

    Science.gov (United States)

    Park, Tina; Cave, David; Marshall, Christopher

    2015-08-07

    Microscopic colitis is a common cause of chronic, nonbloody diarrhea. Microscopic colitis is more common in women than men and usually affects patients in their sixth and seventh decade. This article reviews the etiology and medical management of microscopic colitis. The etiology of microscopic colitis is unknown, but it is associated with autoimmune disorders, such as celiac disease, polyarthritis, and thyroid disorders. Smoking has been identified as a risk factor of microscopic colitis. Exposure to medications, such as non-steroidal anti-inflammatory drugs, proton pump inhibitors, and selective serotonin reuptake inhibitors, is suspected to play a role in microscopic colitis, although their direct causal relationship has not been proven. Multiple medications, including corticosteroids, anti-diarrheals, cholestyramine, bismuth, 5-aminosalicylates, and immunomodulators, have been used to treat microscopic colitis with variable response rates. Budesonide is effective in inducing and maintaining clinical remission but relapse rate is as high as 82% when budesonide is discontinued. There is limited data on management of steroid-dependent microscopic colitis or refractory microscopic colitis. Immunomodulators seem to have low response rate 0%-56% for patients with refractory microscopic colitis. Response rate 66%-100% was observed for use of anti-tumor necrosis factor (TNF) therapy for refractory microscopic colitis. Anti-TNF and diverting ileostomy may be an option in severe or refractory microscopic colitis.

  13. Romantic Relationship Satisfaction Moderates the Etiology of Adult Personality

    Science.gov (United States)

    South, Susan C.; Krueger, Robert F.; Elkins, Irene; Iacono, William G.; McGue, Matt

    2015-01-01

    The heritability of major normative domains of personality is well-established, with approximately half the proportion of variance attributed to genetic differences. In the current study, we examine the possibility of gene x environment interaction (GxE) for adult personality using the environmental context of intimate romantic relationship functioning. Personality and relationship satisfaction are significantly correlated phenotypically, but to date no research has examined how the genetic and environmental components of variance for personality differ as a function of romantic relationship satisfaction. Given the importance of personality for myriad outcomes from work productivity to psychopathology, it is vital to identify variables present in adulthood that may affect the etiology of personality. In the current study, quantitative models of GxE were used to determine whether the genetic and environmental influences on personality differ as a function of relationship satisfaction. We drew from a sample of now-adult twins followed longitudinally from adolescence through age 29. All participants completed the Multidimensional Personality Questionnaire (MPQ) and an abbreviated version of the Dyadic Adjustment Scale (DAS). Biometric moderation was found for eight of the eleven MPQ scales examined: Well-Being, Social Potency, Negative Emotionality, Alienation, Aggression, Constraint, Traditionalism, and Absorption. The pattern of findings differed, suggesting that the ways in which relationship quality moderates the etiology of personality may depend on the personality trait. PMID:26581694

  14. Sepsis-Induced Osteoblast Ablation Causes Immunodeficiency.

    Science.gov (United States)

    Terashima, Asuka; Okamoto, Kazuo; Nakashima, Tomoki; Akira, Shizuo; Ikuta, Koichi; Takayanagi, Hiroshi

    2016-06-21

    Sepsis is a host inflammatory response to severe infection associated with high mortality that is caused by lymphopenia-associated immunodeficiency. However, it is unknown how lymphopenia persists after the accelerated lymphocyte apoptosis subsides. Here we show that sepsis rapidly ablated osteoblasts, which reduced the number of common lymphoid progenitors (CLPs). Osteoblast ablation or inducible deletion of interleukin-7 (IL-7) in osteoblasts recapitulated the lymphopenic phenotype together with a lower CLP number without affecting hematopoietic stem cells (HSCs). Pharmacological activation of osteoblasts improved sepsis-induced lymphopenia. This study demonstrates a reciprocal interaction between the immune and bone systems, in which acute inflammation induces a defect in bone cells resulting in lymphopenia-associated immunodeficiency, indicating that bone cells comprise a therapeutic target in certain life-threatening immune reactions. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Inflammatory Bowel Disease in Primary Immunodeficiencies.

    Science.gov (United States)

    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.

  16. Molecular Epidemiology of Human Immunodeficiency Virus

    OpenAIRE

    Chin, Bum Sik

    2017-01-01

    During the evolution of human immunodeficiency virus (HIV), transmissions between humans and primates resulted in multiple HIV lineages in humans. This evolution has been rapid, giving rise to a complex classification and allowing for worldwide spread and intermixing of subtypes, which has consequently led to dozens of circulating recombinant forms. In the Republic of Korea, 12,522 cases of HIV infection have been reported between 1985, when AIDS was first identified, and 2015. This review fo...

  17. Malignant syphilis with human immunodeficiency virus infection

    Directory of Open Access Journals (Sweden)

    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.

  18. Epidemiology of Primary Immunodeficiency in Iceland.

    Science.gov (United States)

    Ludviksson, Bjorn R; Sigurdardottir, Sigurveig T; Johannsson, Johann Heidar; Haraldsson, Asgeir; Hardarson, Thorgeir O

    2015-01-01

    Primary immunodeficiencies (PID) are rare heterogeneous diseases. Little is known about the prevalence of PID in Iceland and no national registry exists. The aim of the study was to describe the epidemiology of PID in Iceland. Using The European Society's for Immunodeficiencies (ESID) criteria for PID, information about individuals with a known PID between 1990 and 2010 in Iceland were collected from inpatient registries of the National University Hospital of Iceland, the Department of Immunology and from clinical immunologists. Selective IgA deficiency, mannan binding lectin deficiency and secondary immunodeficiencies were excluded Sixty six individuals met the study criteria, 35 of them (53%) were females. Four patients died during the study period from PID- or treatment related complications and two moved abroad. In the beginning of 2011 there were 60 individuals living in Iceland with a known PID diagnosis meeting ESID's criteria. Estimated prevalence for PID in the Icelandic population of 318.452 habitants was 18.8 for 100.000 inhabitants. Predominantly antibody disorders comprised the largest category of PID in Iceland. The prevalence of PID is high in Iceland compared to reports from other nations. Our patient data are easily accessible and a central laboratory measures the immune parameters. This high prevalence may indicate that PID is more common than generally recognized.

  19. Childhood hydrocephalus – is radiological morphology associated with etiology

    DEFF Research Database (Denmark)

    Foss-Skiftesvik, Jon; Andresen, Morten; Juhler, Marianne

    2013-01-01

    Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus.......Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus....

  20. Laboratory methods for determining pneumonia etiology in children

    NARCIS (Netherlands)

    Murdoch, David R.; O'Brien, Katherine L.; Driscoll, Amanda J.; Karron, Ruth A.; Bhat, Niranjan; Black, Robert E.; Bhutta, Zulfiqar A.; Campbell, Harry; Cherian, Thomas; Crook, Derrick W.; de Jong, Menno D.; Dowell, Scott F.; Graham, Stephen M.; Klugman, Keith P.; Lanata, Claudio F.; Madhi, Shabir A.; Martin, Paul; Nataro, James P.; Piazza, Franco M.; Qazi, Shamim A.; Zar, Heather J.; Levine, Orin S.; Knoll, Maria Deloria; Feikin, Daniel R.; Scott, J. Anthony G.; Driscoll, Amanda; DeLuca, Andrea; Crawley, Jane

    2012-01-01

    Laboratory diagnostics are a core component of any pneumonia etiology study. Recent advances in diagnostic technology have introduced newer methods that have greatly improved the ability to identify respiratory pathogens. However, determining the microbial etiology of pneumonia remains a challenge,

  1. Hepatitis B and C Viruses Infections and Their Association with Human Immunodeficiency Virus: A Cross-Sectional Study among Blood Donors in Ethiopia.

    Science.gov (United States)

    Yami, Alemeshet; Alemseged, Fissehaye; Hassen, Alima

    2011-03-01

    Since the introduction of Highly Active Anti-Retroviral Therapy and the dramatic improvement in the prognosis of individuals with Human Immunodeficiency Virus, liver disease due to chronic viral hepatitis has become as important cause of morbidity and mortality in co-infected individuals. The objective of the study was to determine the Sero-prevalence of Hepatitis B Virus, Hepatitis C Virus and Human Immunodeficiency Virus and the association of the virus with Hepatitis B Virus and Hepatitis C Virus infection. As Human Immunodeficiency Virus and Hepatitis B Virus infections are highly prevalent and they are among the major public health concern in developing countries including Ethiopia investigating this problem is of paramount benefit. Although studies on co-infection of Hepatitis C Virus and Human Immunodeficiency Virus have clearly identified adverse effects of co-infection, the prevalence of Hepatitis C Virus infection and the association with Human Immunodeficiency Virus in developing countries including Ethiopia has not been know for sure. A cross sectional study was conducted from January 1 to 31, 2010, in Jimma University specialized hospital Blood Bank. The inclusion criteria of the study was adult who donated blood to Jimma University specialized hospital blood bank any time from establishment of the unit until January 2010 and whose record was retrieved. Accordingly 9,204 adults were included of which 6,063 were selected by lottery method. Data on socio-demographic variables (age and sex), laboratory test result for Hepatitis B surface Antigen, anti-Hepatitis C Virus antibody, anti-Human Immunodeficiency Virus 1 antibody, and Rapid Plasma Reagin tests were collected using structured questionnaire. After the data were collected, they were entered into a computer and analyzed using SPSS -16 for windows. P-Value of Virus, Hepatitis C Virus, Human Immunodeficiency Virus and syphilis infection were 2.1%, 0.2%, 2.1% and 0.7%, respectively. Sex and age had

  2. Giant scrotal elephantiasis of inflammatory etiology: a case report

    Directory of Open Access Journals (Sweden)

    Denzinger Stefan

    2007-06-01

    Full Text Available Abstract Background Scrotal lymphedema is rare outside endemic filariasis regions in Africa and Asia. It is of variable origin in the western world. Case presentation We present a case of a 40-year-old European man with massive elephantiasis of the scrotum attributed to chronic inflammation of the lower urinary tract caused by urinary outlet obstruction and diabetes mellitus. The patient underwent subtotal scrotectomy saving penis, testes and spermatic cords and followed by scrotal reconstruction with adequate cosmetic and functional outcome. Conclusion In this report we discuss a rare case of scrotal elephantiasis in an European patient, reflect on the etiology and the diagnostic and therapeutic approaches. Surgery can be successful even in giant scrotal elephantiasis.

  3. The prevalence and etiology of anemia among HIV-infected children in India.

    Science.gov (United States)

    Shet, Anita; Arumugam, Karthika; Rajagopalan, Nirmala; Dinakar, Chitra; Krishnamurthy, Shubha; Mehta, Saurabh; Shet, Arun S

    2012-03-01

    In this report, the prevalence and multifactorial etiology of anemia among Indian human immunodeficiency virus (HIV)-infected children are described. HIV-infected children aged 2-12 years were prospectively enrolled in 2007-2008. Measured parameters included serum ferritin, vitamin B(12), red-cell folate, soluble transferrin receptor, and C-reactive protein. Children received antiretroviral therapy (ART), iron and, folate supplements as per standard of care. Among 80 enrolled HIV-infected children (mean age 6.8 years), the prevalence of anemia was 52.5%. Etiology of anemia was found to be iron deficiency alone in 38.1%, anemia of inflammation alone in 38.1%, combined iron deficiency and anemia of inflammation alone in 7.1%, vitamin B(12) deficiency in 7.1%, and others in 9.5%. Median iron intake was 5.7 mg/day (recommended dietary allowance 18-26 mg/day). Compared to nonanemic children, anemic children were more likely to be underweight (weight Z-score -2.5 vs. -1.9), stunted (height Z-score -2.6 vs. -1.9), with lower CD4 counts (18% vs. 24%, p Children taking ART combined with iron supplements experienced a larger increase in Hb compared to those receiving neither ART nor iron supplements (mean Hb change 1.5 g/dl, p children with HIV infection. Micronutrient supplements combined with ART improved anemia in HIV-infected children.

  4. Home care use of intravenous and subcutaneous immunoglobulin for primary immunodeficiency in the United States.

    Science.gov (United States)

    Huang, Faith; Feuille, Elizabeth; Cunningham-Rundles, Charlotte

    2013-01-01

    Utilization reports on immunoglobulin (Ig) use for immunodeficiency in the United States (U.S.) have focused on prescribing practices in hospitals. There have been no large-scale reports on Ig use for immune deficiency in the home. We investigated the use of Ig in 3,187 subjects diagnosed with primary immunodeficiency. Cross-sectional data on 4,580 subjects in the U.S. receiving Ig in 2011 was obtained from a major home care provider. Demographics, route, dose, and frequency of Ig use by subjects with ICD-9 coded primary immunodeficiencies were analyzed. Of 4,580 subjects, 3,187 had ICD-9 codes suggesting primary immunodeficiencies; 1,939 (60.8 %) were females and 1,248 (39.2 %) were males, with age ranging from 0 to 95 years. The predominant diagnoses were: common variable immunodeficiency (279.06; n=1,764; 55.3 %), hypogammaglobulinemia (279.00; n=635; 19.9 %), unspecified immunity deficiency (279.3; n=286; 9 %), other selective Ig deficiencies (279.03; n=171; 5.4 %), and agammaglobulinemia (279.04; n=127; 4 %). 54 % of subjects received Ig by the subcutaneous (SC) route, and 46 % by intravenous (IV) route, with more SC use by older subjects. The mean dose prescribed was 483 mg/kg/month, but less Ig was ordered for subjects on SCIg (409 mg/kg/month), as compared to subjects on IVIg (568 mg/kg/month). A highly significant inverse correlation between increasing age and dosage of Ig ordered was found (P= <.0001). Analysis of home care use of Ig in primary immune deficiency revealed that the SC route was prescribed more than the IV route, especially for older patients. By either method of administration, less immunoglobulin was prescribed for older subjects.

  5. Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

    Directory of Open Access Journals (Sweden)

    Milos eJesenak

    2014-07-01

    Full Text Available Primary immunodeficiencies (PID are inherited disorders which one or several components of immune system are decreased or missing or of non-appropriate function. These diseases affect the development, function or morphology of the immune system. The group of primary immunodeficiencies comprises more than 200 different disorders and syndromes and the number of newly recognized and revealed deficiencies is still increasing. Their clinical presentation and complications depends on the type of defects and there is a great variability in the relationship between genotypes and phenotypes. A variation of clinical presentation across various age categories is also presented and children could widely differ from adult patients with PID. Respiratory symptoms and complications present a significant cause of morbidity and also mortality amongst patients suffering from different forms of PIDs and they are observed both in children and adults. They can affect primarily either upper airways (e.g. sinusitis, otitis media or lower respiratory tract (e.g. pneumonia, bronchitis, bronchiectasis, interstitial lung diseases. The complications from lower respiratory tract are usually considered to be more important and also more specific for PIDs and they determinate patients’ prognosis. The spectrum of the causal pathogens usually demonstrates typical pattern characteristic for each PID category. The respiratory signs of PIDs can be divided into infectious (upper and lower respiratory tract infections and complications and non-infectious (interstitial lung diseases, bronchial abnormalities – especially bronchiectasis, malignancies, benign lymphoproliferation. Early diagnosis and appropriate therapy can prevent or at least slow down the development and course of respiratory complications of PIDs.

  6. Etiology of hearing loss in children.

    Directory of Open Access Journals (Sweden)

    José Ignacio BENITO-OREJAS

    2017-06-01

    Full Text Available Introduction and objective: The neonatal hearing loss is one of the most common disabilities, with lifelong implications for the child and his family. The implementation of the universal newborn hearing screening and the development in molecular medicine, genetic and integrative neuroscience has perfected the early diagnosis of the hearing loss children and consequently its intervention. With this work, we want to clarify the audiological aspects and causes of the permanent hearing loss diagnosed during the past 20 years. Method: We reviewed retrospectively the records of the children diagnosed with less than 3 years of age of permanent hearing loss, during the period 1994-2015, in a tertiary center. Evaluate the time of home, laterality, type and degree of hearing loss. Depending on the background, genetic testing and other complementary explorations, we present the results of our diagnostic study. Results: In the study-population (n = 183, 71% of the permanent hearing loss > 30 dB HL was diagnosed at birth (congenital. Its main features are the bilaterality (81%, the predominance sensorineural (85% and the grade profound (42% or moderate (30%, more prevalent in the unilateral forms. About the etiologic diagnosis, a 47% of the cases are of origin genetic (29% of which are syndromic, a 25% of cause environmental and a 28% unknown. Discussion: Our results are consistent for the generally accepted distribution of causes, but there are discrepancies in the literature. Despite the different tests used, we had to infer the etiology in 62% of children with hearing loss, finally unknown by 28%. Conclusions: We consider fundamental the monitoring for a consensus standardized etiological protocol that orient in the diagnostic process of hearing loss in children.

  7. Etiological study of microcytic hypochromic anemia

    Directory of Open Access Journals (Sweden)

    S Kafle

    2016-09-01

    Full Text Available Background: Microcytic hypochromic anemia is a distinct morphologic subtype of anemia with well- de ned etiology and treatment. The objective of this study was to determine the etiology and frequency of microcytic hypochromic anemia. Materials and Methods: This cross-sectional observational study was conducted at Kathmandu Medical College Teaching Hospital. One hundred cases of microcytic hypochromic anemia were included. Relevant clinical history, hemogram, reticulocyte count, iron pro les were documented in a proforma. Bone marrow aspiration and hemoglobin electrophoresis was conducted when required. Data was analysed by Microsoft SPSS 16 windows. Result: Iron de ciency was the commonest etiology (49%. Dysfunctional uterine bleeding (20.8% was the commonest cause of iron de ciency, malignancy (24.3% was the commonest cause of anemia of chronic disease. Mean value of Mean Corpuscular Volume was lowest in hemolytic anemia (71.0 . Mean Red cell Distribution Width was normal (14.0% in hemolytic anemia but was raised in other types. Mean serum iron was reduced in iron de ciency anemia (32.2μg/dl and chronic disease (34.8μg/dl, normal in hemolytic anemia (83μg/dl and raised in sideroblastic anemia (295μg/dl. Mean serum ferritin was reduced in iron de ciency anemia (7.6ng/ml, raised in chronic disease (158.6ng/ml and normal in hemolytic anemia (99.2ng/ml. Serum ferritin was normal in sideroblastic anemia (93ng/ml. Mean Total Iron Binding Capacity was raised in iron de ciency anemia (458μg/dl and normal in other microcytic hypochromic anemias. Conclusion: Diagnosis of microcytic hypochromic anemia requires a standardized approach which includes clinical details, hemogram, peripheral blood smear, reticulocyte count, iron pro le, hemoglobin electrophoresis and bone marrow examination. 

  8. The Enduring Challenge of Determining Pneumonia Etiology in Children: Considerations for Future Research Priorities

    Science.gov (United States)

    Hammitt, Laura L.; Murdoch, David R.; O’Brien, Katherine L.; Scott, J. Anthony G.

    2017-01-01

    Abstract Pneumonia kills more children each year worldwide than any other disease. Nonetheless, accurately determining the causes of childhood pneumonia has remained elusive. Over the past century, the focus of pneumonia etiology research has shifted from studies of lung aspirates and postmortem specimens intent on identifying pneumococcal disease to studies of multiple specimen types distant from the lung that are tested for multiple pathogens. Some major challenges facing modern pneumonia etiology studies include the use of nonspecific and variable case definitions, poor access to pathologic lung tissue and to specimens from fatal cases, poor diagnostic accuracy of assays (especially when testing nonpulmonary specimens), and the interpretation of results when multiple pathogens are detected in a given individual. The future of childhood pneumonia etiology research will likely require integrating data from complementary approaches, including applications of advanced molecular diagnostics and vaccine probe studies, as well as a renewed emphasis on lung aspirates from radiologically confirmed pneumonia and postmortem examinations. PMID:28575369

  9. Etiology and pathogenesis of periodontal diseases.

    Science.gov (United States)

    Tatakis, Dimitris N; Kumar, Purnima S

    2005-07-01

    The two most prevalent and most investigated periodontal diseases are dental plaque-induced gingivitis and chronic periodontitis. The last 10 to 15 years have seen the emergence of several important new findings and concepts regarding the etiopathogenesis of periodontal diseases. These findings include the recognition of dental bacterial plaque as a biofilm, identification and characterization of genetic defects that predispose individuals to periodontitis, host-defense mechanisms implicated in periodontal tissue destruction, and the interaction of risk factors with host defenses and bacterial plaque. This article reviews current aspects of the etiology and pathogenesis of periodontal diseases.

  10. Etiology, evaluation, and management of xerostomia.

    Science.gov (United States)

    Millsop, Jillian W; Wang, Elizabeth A; Fazel, Nasim

    Xerostomia is defined as the complaint of oral dryness. It is a condition that primarily affects older adults and can have a significant negative effect on one's quality of life. Patients with xerostomia often do not have objective signs of hyposalivation. The underlying etiology of xerostomia includes a variety of systemic diseases and local factors. Our aim is to provide a comprehensive review of the differential diagnosis, evaluation, and management of xerostomia. Prompt diagnosis and management can alleviate the clinical manifestations of this debilitating condition. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Ankle osteoarthritis: etiology, diagnostics, and classification.

    Science.gov (United States)

    Barg, Alexej; Pagenstert, Geert I; Hügle, Thomas; Gloyer, Marcel; Wiewiorski, Martin; Henninger, Heath B; Valderrabano, Victor

    2013-09-01

    Osteoarthritis (OA) is defined as the syndrome of joint pain and dysfunction caused by substantial joint degeneration. In general, OA is the most common joint disease and is one of the most frequent and symptomatic health problems for middle-aged and older people: OA disables more than 10% of people who are older than 60 years. This article reviews the etiology of ankle OA, and describes the onset and development of posttraumatic ankle OA, the most common form of OA in the tibiotalar joint. Various methods of clinical and radiographic assessment are described in detail. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Etiology of pediatric acute liver failure

    Directory of Open Access Journals (Sweden)

    GUO Jing

    2017-10-01

    Full Text Available Pediatric acute liver failure (PALF is a complex syndrome with rapid progression, and the cause of PALF is age-dependent. This article analyzes the common causes of PALF in clinical practice, including infection factors, inherited metabolic factors, poisoning and drugs, abnormal perfusion, and autoimmune diseases, among which infection factors are the most common cause. With the improvement in diagnosis and treatment techniques, the diagnostic rate of PALF caused by inherited metabolic diseases and autoimmune diseases keeps increasing. Due to the small number of PALF patients, there lacks experience in etiological diagnosis. This article summarizes related reports, in order to provide a reference for screening the causes of PALF.

  13. Etiology and Management of Sexual Dysfunction

    Directory of Open Access Journals (Sweden)

    Narendra Kumar Muthugaduru Shivarudrappa

    2009-09-01

    Full Text Available Sexual dysfunction is the impairment or disruption of any of the three phases of normal sexual functioning, including loss of libido, impairment of physiological arousal and loss, delay or alteration of orgasm. Each one of these can be affected by an orchestra of factors like senility, medical and surgical illnesses, medications and drugs of abuse. Non-pharmacological therapy is the main stay in the treatment of sexual dysfunction and drugs are used as adjuncts for a quicker and better result. Management in many of the cases depends on the primary cause. Here is a review of the major etiological factors of sexual dysfunction and its management

  14. Retrospective analysis of etiology and comorbid diseases associated with Ludwig's Angina.

    Science.gov (United States)

    Botha, Andrew; Jacobs, Fred; Postma, Corne

    2015-01-01

    Ludwig's angina (LA) still presents regularly at our tertiary academic hospital. Various etiologies and comorbid diseases are documented worldwide, but the South African population has not been studied. To establish whether LA cases presenting to the department are different from international reports regarding etiology and comorbidities. Retrospective analysis of patients presenting with LA to a tertiary hospital. 93 patients were included over a 5-year period. Archived files were analyzed for data including age, gender, comorbid diseases, etiology, airway management, and season on admission. Descriptive statistics with the inclusion of frequency distributions. 93 patients were included; 65 (69.9%) male and 28 (30.1%) female; age - minimum 20 years, maximum 75 years, mean 40.366. 68 (73.1%) odontogenic, 13 (14%) nonodontogenic, and 12 (12.9%) unknown cause. Comorbid diseases: 21 (22.6%) diabetes mellitus (DM), 19 (20.4%) hypertension, and 18 (19.4%) human immunodeficiency virus (HIV). Airway management: 61 (65.6%) tracheostomy and 32 (34.4%) nonsurgical. 11 (11.8%) deaths, 8 (8.60%) descending mediastinitis, and 7 (7.53%) necrotizing fasciitis. Seasonal occurrence: 30 (32.3%) spring, 24 (25.8%) winter, 22 (23.7%) summer, and 17 (18.3%) autumn. A 2.32:1 ratio male: female presentation mirrors previous statistics. DM patients had increased risks of complications, which resulted in multiple deaths. HIV patients showed increased risks for complications with more intense, longer hospital stays, but lower percentages of deaths compared to patients with DM and complications who died. There was no statistically significant finding regarding seasonal tendency.

  15. Relationship of cytokines and cytokine signaling to immunodeficiency disorders in the mouse

    Directory of Open Access Journals (Sweden)

    Morawetz R.A.

    1998-01-01

    Full Text Available The contributions of cytokines to the development and progression of disease in a mouse model of retrovirus-induced immunodeficiency (MAIDS are controversial. Some studies have indicated an etiologic role for type 2 cytokines, while others have emphasized the importance of type 1 cytokines. We have used mice deficient in expression of IL-4, IL-10, IL-4 and IL-10, IFN-g, or ICSBP - a transcriptional protein involved in IFN signaling - to examine their contributions to this disorder. Our results demonstrate that expression of type 2 cytokines is an epiphenomenon of infection and that IFN-g is a driving force in disease progression. In addition, exogenously administered IL-12 prevents many manifestations of disease while blocking retrovirus expression. Interruption of the IFN signaling pathways in ICSBP-/- mice blocks induction of MAIDS. Predictably, ICSBP-deficient mice exhibit impaired responses to challenge with several other viruses. This immunodeficiency is associated with impaired production of IFN-g and IL-12. Unexpectedly, however, the ICSBP-/- mice also develop a syndrome with many similarities to chronic myelogenous leukemia in humans. The chronic phase of this disease is followed by a fatal blast crisis characterized by clonal expansions of undifferentiated cells. ICSBP is thus an important determinant of hematopoietic growth and differentiation as well as a prominent signaling molecule for IFNs

  16. Etiology of homosexuality and attitudes toward same-sex parenting: a randomized study.

    Science.gov (United States)

    Frias-Navarro, Dolores; Monterde-I-Bort, Hector; Pascual-Soler, Marcos; Badenes-Ribera, Laura

    2015-01-01

    Attribution theory suggests the hypothesis that heterosexuals' attitudes toward homosexual sexual orientation will be more negative when homosexuality is attributed to controllable causes. Our randomized study analyzed (a) whether beliefs about the genetic or environmental etiology of the homosexual sexual orientation can be immediately modified by reading a text and (b) the causal effect of attributions about the controllability (environmental etiology) or noncontrollability (genetic etiology) of homosexual sexual orientation on the rejection of same-sex parenting and their social rights. The sample was composed of 190 Spanish university students with a mean age of 22.07 years (SD = 8.46). The results show that beliefs about the etiology of the sexual orientation could be modified by means of a written text. Furthermore, participants who believed that sexual orientation had a genetic etiology showed greater support for social rights and less rejection of same-sex parenting. However, the effects were detected only when there was a traditional opposition to the family with same-sex parenting. When the opposition was normative, the effect was not statistically significant. Our results can be useful in planning variables for intervention programs designed to foster tolerance toward and normality of sexual diversity.

  17. Variation of human immunodeficiency virus type-1 reverse transcriptase within the simian immunodeficiency virus genome of RT-SHIV.

    Directory of Open Access Journals (Sweden)

    Debra A Wadford

    Full Text Available RT-SHIV is a chimera of simian immunodeficiency virus (SIV containing the reverse transcriptase (RT-encoding region of human immunodeficiency virus type 1 (HIV-1 within the backbone of SIVmac239. It has been used in a non-human primate model for studies of non-nucleoside RT inhibitors (NNRTI and highly active antiretroviral therapy (HAART. We and others have identified several mutations that arise in the "foreign" HIV-1 RT of RT-SHIV during in vivo replication. In this study we catalogued amino acid substitutions in the HIV-1 RT and in regions of the SIV backbone with which RT interacts that emerged 30 weeks post-infection from seven RT-SHIV-infected rhesus macaques. The virus set points varied from relatively high virus load, moderate virus load, to undetectable virus load. The G196R substitution in RT was detected from 6 of 7 animals at week 4 post-infection and remained in virus from 4 of 6 animals at week 30. Virus from four high virus load animals showed several common mutations within RT, including L74V or V75L, G196R, L214F, and K275R. The foreign RT from high virus load isolates exhibited as much variation as that of the highly variable envelope surface glycoprotein, and 10-fold higher than that of the native RT of SIVmac239. Isolates from moderate virus load animals showed much less variation in the foreign RT than the high virus load isolates. No variation was found in SIVmac239 genes known to interact with RT. Our results demonstrate substantial adaptation of the foreign HIV-1 RT in RT-SHIV-infected macaques, which most likely reflects selective pressure upon the foreign RT to attain optimal activity within the context of the chimeric RT-SHIV and the rhesus macaque host.

  18. Epilepsy in the tropics: Emerging etiologies.

    Science.gov (United States)

    Carrizosa Moog, Jaime; Kakooza-Mwesige, Angelina; Tan, Chong Tin

    2017-01-01

    Epilepsy is considered by the World Health Organization a public health priority with more than 50 million human beings affected by the disease. More than 80% of persons with epilepsy live in low and middle income countries and most of them in tropical areas. Several emerging, re-emerging and neglected diseases are symptomatic etiologies that jointly contribute to the enormous global burden of epilepsy. Besides the clinical strengths to reduce diagnostic and treatment gaps, other strategies in social, economic, cultural, educational and health policies are needed to prevent and treat appropriately vulnerable and affected persons with epilepsy. From the public health point of view, several of those strategies could be more effective in reducing the incidence and burden of the disease than the clinical approach of diagnosis and treatment. Special attention has to be given to stigma reduction and promotion of human rights. Several aspects mentioned in this abstract slip away the scope of the article, but it is a remainder to approach epilepsy in an inter- and transdisciplinary manner, an integral and pertinent approach needed and requested in tropical counties. The article focuses only on emergent and re-emergent etiologies of epilepsy in the tropics like malaria, HIV, neurocysticercosis, viral encephalitis and traumatic brain injury. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  19. Terminology, epidemiology, etiology, and pathophysiology of nocturia.

    Science.gov (United States)

    Van Kerrebroeck, Philip; Andersson, Karl-Erik

    2014-04-01

    Nocturia, awaking from sleep to void, has a negative impact on health and well-being. Nocturia affects men and women and is more prevalent among the elderly. More than two nocturnal voids is considered to be a clinically meaningful threshold associated with significant negative outcomes for health and well-being, and the timing of awakening has a significant bearing on the negative consequences of nocturia. Several serious underlying pathophysiologic conditions may be associated with nocturia. A thorough history and assessment of number and times of voids, void volume, and fluid intake is essential for determining the etiology of a patient's nocturia. With data obtained from the frequency-volume chart (FVC), which is used to collect quantitative voiding data, a patient's nocturia may be classified as global polyuria, nocturnal polyuria, reduced bladder capacity, or a combination of these categories. Global polyuria is defined as 24-hr urinary output that exceeds 40 ml/kg body weight and results in increased 24-hr urinary frequency. Nocturnal polyuria is defined as more than 20% of daily urine output at night in young patients and more than 33% in elderly patients. Reduced bladder capacity may be a result of idiopathic or neurogenic detrusor overactivity, bladder outlet obstruction, or reduced nocturnal bladder capacity. The pathophysiology underlying the findings of the FVC falls into five main categories: global polyuria, nocturnal polyuria, reduced bladder capacity, sleep disorders, and circadian clock disorders. This review discusses the epidemiology, etiology, and pathophysiology of nocturia. © 2014 Wiley Periodicals, Inc.

  20. Thrombocytosis. Etiologic analysis of 663 patients.

    Science.gov (United States)

    Yohannan, M D; Higgy, K E; al-Mashhadani, S A; Santhosh-Kumar, C R

    1994-06-01

    Six hundred sixty-three children aged 1 to 16 years with thrombocytosis (defined as a platelet count of more than 500 x 10(9)/L) seen in a university hospital over a 1-year period were studied prospectively for etiology. The causes of thrombocytosis were infection (30.6%), hemolytic anemia (19.3%), tissue damage (15.2%), rebound thrombocytosis (14.8%), chronic inflammation (4.1%), renal disorders (4.1%), and malignancy (2%). Thrombocytosis associated with multiple, simultaneous causative factors was seen in 3.3% of cases. Among all patients with infections, osteomyelitis and septic arthritis were associated with higher platelet counts than other infections (P Thrombocytosis secondary to infections was significantly more common in children under 5 years of age, whereas chronic inflammation, malignancy, and renal disorders were more common causes of thrombocytosis in children over 5 years of age. Thrombocytosis of 1 million or more platelets was seen in 13 (2%) children. No thrombocytosis-related complications were seen in any children, and none required any specific treatment. Thrombocytosis is a frequent finding in children. It is due to a variety of etiologic factors and is of little clinical discriminatory value. It is often due to an acute-phase phenomenon in response to infection, tissue damage, blood loss, or anemia, and is rarely due to malignancy.

  1. Rhabdomyolysis with different etiologies in childhood.

    Science.gov (United States)

    Alaygut, Demet; Torun Bayram, Meral; Kasap, Belde; Soylu, Alper; Türkmen, Mehmet; Kavukcu, Salih

    2017-11-08

    To investigate different etiologies and management of the rhabdomyolysis in children. Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment. Average diagnosis ages of eight cases were 129 (24-192) ± 75.5 mo and five of them were girls. All of them had applied with the complaint of muscle pain, calf pain, and dark color urination. Infection (pneumonia) and excessive physical activity were the most important provocative factors and excessive licorice consumption was observed in one case. In 5 cases, acute kidney injury was determined and two cases needed hemodialysis. As a result of the further examinations; the cases had received diagnoses of rhabdomyolysis associated with mycoplasma pneumoniae, sepsis associated rhabdomyolysis, licorice-induced hypokalemic rhabdomyolysis, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, congenital muscular dystrophy and idiopathic paroxysmal rhabdomyolysis (Meyer-Betz syndrome). It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive.

  2. Etiology of liver cirrhosis in Mexico.

    Science.gov (United States)

    Méndez-Sánchez, Nahum; Aguilar-Ramírez, Juan R; Reyes, Angel; Dehesa, Margarita; Juórez, Alberto; Castñeda, Beatriz; Sánchez-Avila, Francisco; Poo, Jorge L; Guevara González, Luis; Lizardi, Javier; Valdovinos, Miguel A; Uribe, Misael; Contreras, Ana M; Tirado, Patricia; Aguirre, Jesús; Rivera-Benítez, Cesar; Santiago-Santiago, Ramón; Bosques-Padilla, Francisco; Muñoz, Linda; Guerroro, Arnoldo; Ramos, Mayra; Rodríguez-Hernández, Heriberto; Jacobo-Karam, Jannett

    2004-01-01

    In the last decades it has been suggested that the main cause of liver cirrhosis in Mexico is alcohol. Currently in Western countries hepatitis C virus stage liver disease and liver transplantation. In Mexico, we have no data relative to the etiology of liver cirrhosis. The aim of this study was to investigate the main causes of liver cirrhosis in Mexico. Eight hospitals located in different areas of the country were invited to participate in this study. Those hospitals provide health care to different social classes of the country. The inclusion criteria were the presence of either an histological or a clinical and biochemical diagnosis of liver cirrhosis. A total 1,486 cases were included in this study. The etiology of liver cirrhosis was alcohol in 587 (39.5%), HCV 544 (36.6%), cryptogenic 154 (10.4%), PBC 84 (5.7%), HBV 75 (5.0%) and other 42 (2.8%). There was no statistical difference between alcohol and HCV. We conclude that the main causes of liver cirrhosis in Mexico are alcohol and HCV.

  3. Congenital orofacial clefts: Etiology and Frequency

    Directory of Open Access Journals (Sweden)

    Kamil Serkan Ağaçayak

    2014-06-01

    Full Text Available Orofacial clefts are congenital structural anomalies of the lip and/or palate. These anomalies affect ~1/1000 in the community. The etiology of orofacial clefts is complex, including various genetic and environmental agents. Syndrome is not accompanied by any isolated orofacial clefts are more common, although environmental factors often play a role in the etiology. Mendelian or teratogenic origins; the non-syndromic forms of orofacial clefts are more common and are likely due to secondary gene–environment interactions. Latest researches in both molecular and quantitative approaches have begun to identify the genes responsible for the rare syndromic forms of cleft and have also identified both candidate genes and loci for the more common and complex non-syndromic variants. Animal models, have also contributed greatly to an comprehension of these anomalies. We aimed to describes genes that are involved in orofacial clefts in humans and animal models and explores genetic approaches to identifying additional genes and gene–environment interactions that constitute the many factors of orofacial clefts in this review.

  4. Dual diagnosis: a review of etiological theories.

    Science.gov (United States)

    Mueser, K T; Drake, R E; Wallach, M A

    1998-01-01

    The etiology of the high prevalence of substance use disorders in patients with severe mental illness (schizophrenia or bipolar disorder) is unclear. We review the evidence of different theories of increased comorbidity, organized according to four general models: common factor models, secondary substance use disorder models, secondary psychiatric disorder models, and bidirectional models. Among common factor models, evidence suggests that antisocial personality disorder accounts for some increased comorbidity. Among secondary substance use disorder models, there is support for the supersensitivity model, which posits that biological vulnerability of psychiatric disorders results in sensitivity to small amounts of alcohol and drugs, leading to substance use disorders. There is minimal support for the self-medication model, but the accumulation of multiple risk factors related to mental illness, including dysphoria, may increase the risk of substance use disorder. Secondary psychiatric disorder models remain to be convincingly demonstrated. Bidirectional models have not been systematically examined. Further clarification of etiologic factors, including the identification of subtypes of dual diagnosis, may have implications for developing more effective prevention efforts and treatment.

  5. 78 FR 46969 - Human Immunodeficiency Virus Patient-Focused Drug Development and Human Immunodeficiency Virus...

    Science.gov (United States)

    2013-08-02

    ... HUMAN SERVICES Food and Drug Administration Human Immunodeficiency Virus Patient-Focused Drug... Administration, HHS. ACTION: Notice; reopening of comment period. SUMMARY: The Food and Drug Administration (FDA...' perspective on current approaches to managing HIV, symptoms experienced because of HIV or its treatment, and...

  6. [Innate immunity primary immunodeficiencies and infections].

    Science.gov (United States)

    Duchamp, M; Miot, C; Bustamante, J C; Picard, C

    2016-07-01

    The diagnosis of primary immunodeficiency diseases (PIDs) is important for the early and adaptive care of patients and their families. Among the various known PIDs, a number of them concern the innate immune system, which involve a set of cells and mechanisms involved in the host defense by a nonspecific and fast response. The majority of patients with innate immunity defects have a predisposition to one isolated type of infection (bacterial, viral, or fungal), dependent on the genetic defect involved. This article describes the different PIDs involving innate immunity and the immunological investigations allowing for their diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Humoral Immuno-deficiency in Lichen Planus

    Directory of Open Access Journals (Sweden)

    Pramod K Nigam

    1988-01-01

    Full Text Available Serum immunouglobulin levels were studied in 41 histopathologically proven idiopathic lichen planus patients and 25 normal healthy individuals. No difference was observed in IgG levels, though, IgA and IgM levels were significantly reduced ′m patients with lichen planus as compared to normal controls. There was no association between the mucosal involvement and the reduced levels of IgA and IgM. These results suggest the possibility of humoral immuno-deficiency, in lichen planus patients.

  8. [Acquired immunodeficiency syndrome in pediatric patients].

    Science.gov (United States)

    Molina Moguel, J L; Ruiz Illezcas, R; Forsbach Sánchez, S; Carreño Alvarez, S; Picco Díaz, I

    1990-12-01

    The object of this study was to determine how many of the patients treated at the Pediatric Odontology Clinic, a branch of the Maxillo-Facial Surgery Service at the Veinte de Noviembre Regional Hospital, ISSSTE, are VIH-positive of show serious manifestations of Acquired Immuno-Deficiency Syndrome (AIDS). For such purpose, 100 pediatric patients suffering from different systemic or local diseases were evaluated, the most common being hematological alterations. Results evidenced the presence of VIH in the blood of five of the pediatric subjects, all suffering from Hemophilia.

  9. 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...

  10. Anti-Human Immunodeficiency Virus (HIV) Agents | Okolie | Journal ...

    African Journals Online (AJOL)

    This article gives a brief review of anti-retroviral agents with activity against the Human Immunodeficiency Virus (HIV) the causative agen of Acquired Immunodeficiency Syndrome (AIDS). It also outlines the principles, mode of action of anti-HIV agents and their sites of therapeutic intervention. Zidovudine or Azidothymidine ...

  11. Gene Therapy for RAG-deficient Severe Combined Immunodeficiency

    NARCIS (Netherlands)

    K. Pike (Karin)

    2007-01-01

    textabstractSevere combined immunodeficiency (SCID) is a rare class of primary, inherited, immunodeficiency causing infants to suffer from persistent diarrhea, opportunistic infections and a failure to thrive. RAG proteins play a crucial role in the initiation of V(D)J recombination of

  12. Epidemic renal disease of unknown etiology in the Zuni Indians

    Energy Technology Data Exchange (ETDEWEB)

    Hoy, W.E.; Megill, D.M.; Hughson, M.D.

    1987-06-01

    An epidemic of renal disease is occurring among the Zuni Indians in western New Mexico. In 1985, 1.6% of Zunis had clinically recognized renal disease and 1% had renal insufficiency. The incidence of end-stage renal disease (ESRD) in 1984 and 1985 was 14 times the rate for US whites, and three times the rates of other Indians in ESRD network 6. One third of the cases of renal disease and ESRD is due to type 2 diabetes, but the etiology of disease in most of the remainder is unknown. Affected subjects range from early childhood to old age. Early signs are hematuria, mild to moderate proteinuria, normal BP, and low total hemolytic complement, normal or low C3 and C4 levels, in about 40% of the cases. The clinical course varies from benign to rapidly progressive renal failure. Biopsies usually reflect an immune-complex mediated mesangiopathic glomerulonephritis, with IgA, IgG, IgM, and C3 variably present in the mesangium. In some cases, there is a very strong familial pattern suggesting autosomal dominant inheritance or a marked communal exposure effect. This may be a genetic disease educed by the consanguinity in the ethnically homogeneous Zuni population. Mesangiopathic renal disease is common in some Oriental populations, and this phenomenon may reflect the American Indians' Oriental ancestry. This disease may also be due to toxic exposures related to jewelry-making, potting, Zuni water, Zuni salt, or herbal or other products used for medicinal or religious purposes. This epidemic is causing much morbidity and generating huge costs for ESRD treatment. Further study is needed to better understand its etiology.

  13. Hematologic manifestations of feline immunodeficiency virus infection.

    Science.gov (United States)

    Shelton, G H; Linenberger, M L; Grant, C K; Abkowitz, J L

    1990-09-15

    Studies were done on 53 cats with community-acquired infection with the feline immunodeficiency virus (FIV) to determine if hematologic abnormalities were comparable with those observed in patients seropositive for the human immunodeficiency virus (HIV). Nine cats were asymptomatic, 24 had clinical symptoms equivalent to AIDS-related complex (ARC), and 20 had AIDS-like disease. Hematologic abnormalities were detected in 75% (40 of 53) of FIV-seropositive cats, and multiple concurrent cytopenias were common. Anemia, lymphopenia, neutropenia, and thrombocytopenia occurred in 36%, 53%, 34%, and 8% of FIV-seropositive cats, respectively. Cytopenias were seen only in symptomatic (ARC or AIDS) cats. The occurrence of cytopenias and the distribution of clinical stages were similar in cats with concurrent feline leukemia virus (FeLV) infection and those with FIV alone, suggesting that these abnormalities were a direct consequence of FIV infection. In addition, abnormalities were noted in 72% of marrows from symptomatic cats and included hyperplasia of individual cell lineages and dysmorphic features. Our results demonstrate that the hematologic manifestations of FIV infection are strikingly similar to those reported in HIV-seropositive patients. Thus, FIV infection in cats is an excellent animal model to study the pathogenesis of blood and marrow abnormalities in AIDS, as well as to evaluate the hematologic toxicities of drug therapies.

  14. Family physician perspectives on primary immunodeficiency diseases

    Directory of Open Access Journals (Sweden)

    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.

  15. Anterior cruciate ligament injuries: etiology and prevention.

    Science.gov (United States)

    Brophy, Robert H; Silvers, Holly J; Mandelbaum, Bert R

    2010-03-01

    The relatively high risk of noncontact anterior cruciate ligament (ACL) rupture among female athletes has been a major impetus for investigation into the etiology of this injury. A number of risk factors have been identified, both internal and external to the athlete, including neuromuscular, anatomical, hormonal, shoe-surface interaction, and environmental, such as weather. The anatomic and neuromuscular risk factors, often gender related, are the focus of most ACL injury prevention programs. Although studies have shown that biomechanic- centered prevention programs can reduce the risk of ACL injury, many questions remain unanswered. More research is needed to increase our understanding of the risk factors for ACL injury; how injury prevention programs work and can the clinical application of such programs be optimized.

  16. Acute Pancreatitis: Etiology, Pathology, Diagnosis, and Treatment.

    Science.gov (United States)

    Majidi, Shirin; Golembioski, Adam; Wilson, Stephen L; Thompson, Errington C

    2017-11-01

    Acute pancreatitis is a fascinating disease. In the United States, the two most common etiologies of acute pancreatitis are gallstones and excessive alcohol consumption. The diagnosis of acute pancreatitis is made with a combination of history, physical examination, computed tomography scan, and laboratory evaluation. Differentiating patients who will have a benign course of their pancreatitis from patients who will have severe pancreatitis is challenging to the clinician. C-reactive protein, pro-calcitonin, and the Bedside Index for Severity of Acute Pancreatitis appeared to be the best tools for the early and accurate diagnosis of severe pancreatitis. Early laparoscopic cholecystectomy is indicated for patients with mild gallstone pancreatitis. For patients who are going to have a prolonged hospitalization, enteral nutrition is preferred. Total parenteral nutrition should be reserved for patients who cannot tolerate enteral nutrition. Prophylactic antibiotics are not indicated for patients with pancreatic necrosis. Surgical intervention for infected pancreatic necrosis should be delayed as long as possible to improve patient outcomes.

  17. Complex Neurodevelopmental Disorders And Their Genetic Etiologies

    Directory of Open Access Journals (Sweden)

    Amna Batool

    2015-08-01

    Full Text Available Complex Neurodevelopmental disorders NDDs exhibit complex etiological and genetic features and the mutations have a fundamental role in this complexity including common polymorphisms and rare variations in a single gene or cluster of genes. The analysis of complex NDDs have shown that the genetics has the major role in causation of such complex diseases. Interestingly both mutations and polymorphisms are involved occurring in a single gene or clusters of genes. Likewise a single gene variation may also be involved in multiple neurological disorders making the diagnosis of neurological diseases more difficult. Many candidate genes and chromosomal regions have been identified that are widely involved in neurological symptoms which necessitates the genotypic approach for describing the phenotype.

  18. Etiologies and distribution of neonatal leukomalacia.

    Science.gov (United States)

    Iida, K; Takashima, S; Takeuchi, Y

    1992-01-01

    Neonatal leukomalacia was classified into 4 groups: focal (F), widespread (W), diffuse (D), and multicystic encephalomalacia (MCE) according to the distribution of ischemic necrosis in the cerebral hemisphere. The highest and lowest values of PaCO2, PaO2, and pH and the lowest systolic and diastolic blood pressures were compared among each group and controls. The lowest PaCO2 values were significantly lower in MCE than in the F, W, and D (F + W + D) group or controls. The lowest values of systolic and diastolic blood pressures in the W and F + W + D groups were significantly lower than in the controls; therefore, hypocarbia can be an etiologic factor of MCE rather than periventricular leukomalacia. Hypotension may be closely related to a causal factor of neonatal leukomalacia.

  19. Etiology and Pathogenesis of Epithelial Ovarian Cancer

    Directory of Open Access Journals (Sweden)

    Samuel C. Mok

    2007-01-01

    Full Text Available Ovarian cancer is complex disease composed of different histological grades and types. However, the underlying molecular mechanisms involved in the development of different phenotypes remain largely unknown. Epidemiological studies identified multiple exogenous and endogenous risk factors for ovarian cancer development. Among them, an inflammatory stromal microenvironment seems to play a critical role in the initiation of the disease. The interaction between such a microenvironment, genetic polymorphisms, and different epithelial components such as endosalpingiosis, endometriosis, and ovarian inclusion cyst in the ovarian cortex may induce different genetic changes identified in the epithelial component of different histological types of ovarian tumors. Genetic studies on different histological grades and types provide insight into the pathogenetic pathways for the development of different disease phenotypes. However, the link between all these genetic changes and the etiological factors remains to be established.

  20. Etiology research on different types of uveitis

    Directory of Open Access Journals (Sweden)

    Zhe Yang

    2016-05-01

    Full Text Available AIM:To analysis and discuss etiology of different types of uveitis. METHODS:We selected 60 patients(120 eyeswith uveitis treated in our hospital from June 2012 to June 2015. All patients examined by the same uveitis specialist with unified standards. According to international standards, uveitis was customized into:anterior uveitis(AU, intermediate uveitis(IU, posterior uveitis(PU, panuveitis(PanU. Age, gender, type of uveitis and causes of the disease were analyzed. RESULTS:Through the analysis of the etiology and clinical types of patients, the main types were idiopathic(26 cases, 21.7%, VKH syndrome(18 cases, 15.0%, HLA-B27 related(14 cases, 11.7%, viral(12 cases, 10.0%, Fuchs syndrome(8 cases, 6.7%, Behcet's disease(8 eyes, 6.7%, diabetes(6 eyes, 5.0%, syphilis(6 eyes, 5.0%, Posner-Schlossman syndrome(6 eyes, 5.0%, juvenile chronic arthritis(4 eyes, 3.3%, sympathetic ophthalmia(4 eyes,3.3%, traumatic(2 eyes, 1.7%, sarcoid(2 eyes, 1.7%, endophthalmitis(2 eyes, 1.7%and others(2 eyes, 1.7%. By the observation for different types uveitis, the main cause of AU was idiopathic, followed by HLA-B27-related and viral; for PanU, it was VKH syndrome, idiopathic ones and Behcet's disease; for PU, it was idiopathic, then viral; for IU, it was idiopathic. CONCLUSION:Through observation and analysis for clinical patients, male patients were more than female; idiopathic, caused by VKH syndrome, viral and Behcet's disease are the common types of uveitis.

  1. Computed tomography of the lungs in acquired immunodeficiency syndrome. An early indicator of interstitial pneumonia

    Energy Technology Data Exchange (ETDEWEB)

    Hartelius, H.; Gaub, J.; Jensen, L.I.; Jensen, J.; Faber, V.

    Computed tomography of the chest was performed on 42 occasions as part of the diagnostic work-up in 26 homosexual men with, or suspected of the acquired immunodeficiency syndrome (AIDS). In 17 cases both the chest radiographs and the lung scans were abnormal, and bronchoscopy and/or lung biopsy established an etiologic diagnosis in the majority of these cases. In 9 cases CT of the lungs revealed unequivocal interstitial infiltration in the presence of a normal chest radiography, and subsequently and etiologic agent was demonstrated in all these cases. In 9 cases, patients with symptoms indicative of pulmonary infection had both a normal chest radiograph and a normal lung scan, and in none of these cases did the clinical course or additional diagnostic procedures indicate the presence of current opportunistic lung infection. CT of the lungs seems to identify accurately those patients with severe HIV-related diseases in whom invasive diagnostic procedures such as bronchoalveolar lavage and/or lung biopsy should be done.

  2. FUNCTION IN BIOLOGY: ETIOLOGICAL AND ORGANIZATIONAL PERSPECTIVES

    Directory of Open Access Journals (Sweden)

    Nunes Neto Nei Freitas Freitas

    2009-12-01

    ="false" Priority="21" SemiHidden="false" UnhideWhenUsed="false" QFormat="true" Name="Intense Emphasis" />

  1. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    Directory of Open Access Journals (Sweden)

    Enrico Bellato

    2012-01-01

    Full Text Available Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud’s phenomenon, irritable bowel disease, and heat and cold intolerance can be associated with this condition. A careful differential diagnosis is mandatory: fibromyalgia is not a diagnosis of exclusion. Since 1990, diagnosis has been principally based on the two major diagnostic criteria defined by the ACR. Recently, new criteria have been proposed. The main goals of the treatment are to alleviate pain, increase restorative sleep, and improve physical function. A multidisciplinary approach is optimal. While most nonsteroidal anti-inflammatory drugs and opioids have limited benefit, an important role is played by antidepressants and neuromodulating antiepileptics: currently duloxetine (NNT for a 30% pain reduction 7.2, milnacipran (NNT 19, and pregabalin (NNT 8.6 are the only drugs approved by the US Food and Drug Administration for the treatment of fibromyalgia. In addition, nonpharmacological treatments should be associated with drug therapy.

  2. Etiology and immunology of infectious bronchitis virus

    Directory of Open Access Journals (Sweden)

    LF Caron

    2010-06-01

    Full Text Available Infectious bronchitis virus (IBV of chickens is currently one of the main diseases associated with respiratory syndrome in domestic poultry, as well as with losses related to egg production. The etiological agent is a coronavirus, which presents structural differences in the field, mainly in the S1 spike protein. The immune response against this virus is complicated by the few similarities among serotypes. Environmental and management factors, as well as the high mutation rate of the virus, render it difficult to control the disease and compromise the efficacy of the available vaccines. Bird immune system capacity to respond to challenges depend on the integrity of the mucosae, as an innate compartment, and on the generation of humoral and cell-mediated adaptive responses, and may affect the health status of breeding stocks in the medium run. Vaccination of day-old chicks in the hatchery on aims at eliciting immune responses, particularly cell-mediated responses that are essential when birds are first challenged. Humoral response (IgY and IgA are also important for virus clearance in subsequent challenges. The presence of antibodies against the S1 spike protein in 3- to 4-week-old birds is important both in broilers and for immunological memory in layers and breeders.

  3. Etiology and perinatal outcome of polyhydramnios.

    Science.gov (United States)

    Kollmann, M; Voetsch, J; Koidl, C; Schest, E; Haeusler, M; Lang, U; Klaritsch, P

    2014-08-01

    To determine causes of polyhydramnios and the respective perinatal outcome. We retrospectively analyzed cases with polyhydramnios at the Medical University Graz, Austria from 2003 - 2011. Inclusion criteria were single deepest pocket ≥ 8  cm, amniotic fluid index ≥ 25  cm, each of the latter parameters > 95th percentile or subjective impression. Etiologies, including TORCH infection, diabetes and congenital malformations, as well as perinatal outcome were evaluated. Out of 860 singleton pregnancies with polyhydramnios, 2.9 % had positive TORCH serology, 8.5 % had congenital anomalies, 19.8 % had maternal diabetes, and 68.8 % were idiopathic. The most common fetal anomalies were cardiac defects (32.9 %). Elective caesarean sections were more common in the groups with malformations and maternal diabetes. Low birth weight combined with severe polyhydramnios or maternal diabetes was associated with malformations. Diagnosis of polyhydramnios should prompt glucose-tolerance testing, detailed sonography including fetal echocardiography, and TORCH serology. Especially pregnancies with polyhydramnios and small fetuses as well as those with maternal diabetes should be carefully evaluated for malformations. © Georg Thieme Verlag KG Stuttgart · New York.

  4. Cervicogenic vertigo: etiology, diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Elham Tavanai

    2013-07-01

    Full Text Available Background and Aim: Cervicogenic dizziness is induced by a specific neck position and the earth’s gravity has no effect on provoking of it. The precise incidence of cervicogenic dizziness is not certain but, 20-58% of patients following sudden head injuries experience its symptoms . In this article, the etiology, diagnosis and treatment of cervicogenic vertigo is discussed. Methods: At first, articles of cervicogenic dizziness from electronic databases of Google scholar , PubMed, Scopus, Ovid and CINAHL were searched from 1987 up to 2012. Then, the articles in them vertigo, disequilibrium or nystagmus were consistent with neck disorders were searched. Conclusion: Articles with title of cervicogenic vertigo (cervical vertigo were limited. Clinical researches about cervicogenic vertigo up to now implicate on several points; all signify that we cannot diagnose it certainly and there is not any specific single test for that. Recently, smooth pursuit neck torsion test (SPNTT has introduced for diagnosis of cervicogenic vertigo that is not valid yet. There is no protocol for diagnosis of cervicogenic vertigo and diagnosis is often based on limited clinical experiences of clinicians. Physiotherapy, medication and manual therapies are options for treatment but there is no distinct and effective treatment for it and in just one article, a combination of treatments for cervicogenic vertigo as a protocol has recommended.

  5. ETIOLOGY, PATHOGENESIS AND MORPHOLOGY OF BILIARY ATRESIA

    Directory of Open Access Journals (Sweden)

    O. E. Iryshkin

    2012-01-01

    Full Text Available Biliary atresia is an inflammatory fibrosing process, which invades both extrahepatic and intrahepatic bile ducts. There are two forms of biliary atresia: embryonic form, associated with another visceral malformations, and perinatal form, which is an isolated disease. Biliary atresia is a heterogeinc disease which may appear as a result of different etiological factors, the most important of them are genetics, viral infection, vascular factors, toxins and disregulation of immune system. The characteristic morphological features of biliaryatresia are: intracellular and ductular cholestasis, ductular proliferation, giant cell transformation, portal and perilobular oedema and/or fibrosis. As the patalogical process progresses, ductopenia appears, and fibrosis turns to cirrhosis. Embryonic form mophologically manifests with ductal plate malformation is, what is an important diagnostic criterion. Pro- gnosis of biliary atresia depends on form of disease, age of patient and type of surgical operation. Today surgical treatment includes two steps: palliative portoenterostomia, performed in neonatal period and further liver trans- plantation. However liver transplantation is more preferable as first and single-step treatment. 

  6. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    Science.gov (United States)

    Bellato, Enrico; Marini, Eleonora; Castoldi, Filippo; Barbasetti, Nicola; Mattei, Lorenzo; Bonasia, Davide Edoardo; Blonna, Davide

    2012-01-01

    Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities) and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud's phenomenon, irritable bowel disease, and heat and cold intolerance) can be associated with this condition. A careful differential diagnosis is mandatory: fibromyalgia is not a diagnosis of exclusion. Since 1990, diagnosis has been principally based on the two major diagnostic criteria defined by the ACR. Recently, new criteria have been proposed. The main goals of the treatment are to alleviate pain, increase restorative sleep, and improve physical function. A multidisciplinary approach is optimal. While most nonsteroidal anti-inflammatory drugs and opioids have limited benefit, an important role is played by antidepressants and neuromodulating antiepileptics: currently duloxetine (NNT for a 30% pain reduction 7.2), milnacipran (NNT 19), and pregabalin (NNT 8.6) are the only drugs approved by the US Food and Drug Administration for the treatment of fibromyalgia. In addition, nonpharmacological treatments should be associated with drug therapy. PMID:23213512

  7. The chronobiology, etiology and pathophysiology of obesity.

    Science.gov (United States)

    Garaulet, M; Ordovás, J M; Madrid, J A

    2010-12-01

    The effect of CD on human health is an emerging issue. Many records link CD with diseases such as cancer, cardiovascular, cognitive impairment and obesity, all of them conducive to premature aging. The amount of sleep has declined by 1.5 h over the past century, accompanied by an important increase in obesity. Shift work, sleep deprivation and exposure to bright light at night increase the prevalence of adiposity. Animal models have shown that mice with Clock gene disruption are prone to developing obesity and MetS. This review summarizes the latest developments with regard to chronobiology and obesity, considering (1) how molecular clocks coordinate metabolism and the specific role of the adipocyte; (2) CD and its causes and pathological consequences; (3) the epidemiological evidence of obesity as a chronobiological illness; and (4) theories of circadian disruption and obesity. Energy intake and expenditure, relevance of sleep, fat intake from a circadian perspective and psychological and genetic aspects of obesity are examined. Finally, ideas about the use of chronobiology in the treatment of obesity are discussed. Such knowledge has the potential to become a valuable tool in the understanding of the relationship between the chronobiology, etiology and pathophysiology of obesity.

  8. Impact of simian immunodeficiency virus infection on chimpanzee population dynamics.

    Directory of Open Access Journals (Sweden)

    Rebecca S Rudicell

    2010-09-01

    Full Text Available Like human immunodeficiency virus type 1 (HIV-1, simian immunodeficiency virus of chimpanzees (SIVcpz can cause CD4+ T cell loss and premature death. Here, we used molecular surveillance tools and mathematical modeling to estimate the impact of SIVcpz infection on chimpanzee population dynamics. Habituated (Mitumba and Kasekela and non-habituated (Kalande chimpanzees were studied in Gombe National Park, Tanzania. Ape population sizes were determined from demographic records (Mitumba and Kasekela or individual sightings and genotyping (Kalande, while SIVcpz prevalence rates were monitored using non-invasive methods. Between 2002-2009, the Mitumba and Kasekela communities experienced mean annual growth rates of 1.9% and 2.4%, respectively, while Kalande chimpanzees suffered a significant decline, with a mean growth rate of -6.5% to -7.4%, depending on population estimates. A rapid decline in Kalande was first noted in the 1990s and originally attributed to poaching and reduced food sources. However, between 2002-2009, we found a mean SIVcpz prevalence in Kalande of 46.1%, which was almost four times higher than the prevalence in Mitumba (12.7% and Kasekela (12.1%. To explore whether SIVcpz contributed to the Kalande decline, we used empirically determined SIVcpz transmission probabilities as well as chimpanzee mortality, mating and migration data to model the effect of viral pathogenicity on chimpanzee population growth. Deterministic calculations indicated that a prevalence of greater than 3.4% would result in negative growth and eventual population extinction, even using conservative mortality estimates. However, stochastic models revealed that in representative populations, SIVcpz, and not its host species, frequently went extinct. High SIVcpz transmission probability and excess mortality reduced population persistence, while intercommunity migration often rescued infected communities, even when immigrating females had a chance of being SIVcpz

  9. Heart failure etiology impacts survival of patients with heart failure

    DEFF Research Database (Denmark)

    Pecini, Redi; Møller, Daniel Vega; Torp-Pedersen, Christian

    2010-01-01

    BACKGROUND: The impact of heart failure (HF) etiology on prognosis of HF is not well known. METHODS: 3078 patients (median age 75years, 61% male) hospitalized with HF were studied. Patients were classified into six etiology groups: hypertension (HTN, 13.9%), ischemic heart disease (IHD, 42...

  10. Etiology and incidence of chronic ulcers in Blantyre, Malawi

    NARCIS (Netherlands)

    Zeegelaar, Jim E.; Stroïnk, Aimee C.; Steketee, Willemyn H.; Faber, William R.; van der Wal, Allard C.; Komolafe, Isaac O. O.; Dzamalala, Charles; Chibwana, Cecilia; Wendte, Johannes F.; Zijlstra, Eduard E.

    2006-01-01

    BACKGROUND: Little information is available on the incidence and etiology of chronic ulcers in the tropics. Therefore, the incidence and etiology of chronic skin ulcers were assessed in out-patients at the Department of Dermatology and in in-patients at the Departments of Dermatology, Surgery,

  11. Epidemiologie et etiologies des epistaxis dans notre pratique: A ...

    African Journals Online (AJOL)

    Introduction: A frequent ailment in ENT, the epistaxis is an emergency that can put the vital prognosis at stake. An adequate follow up care deserves some knowledge of etiology. Objectives: Study the epidemiological and etiological aspects of the epistaxis. Methodology: A retrospective and descriptive study conducted on ...

  12. Etiology and pathogenesis of anterior open bite: A review | Wanjau ...

    African Journals Online (AJOL)

    Objective: To review the etiology and pathogenesis of anterior open bite malocclusion. Data source: Review of literature was affected through Pubmed, Google scholar and Science direct. References identified from articles found from the primary search were also reviewed. Study selection: Published data on etiology and ...

  13. The etiology of digital dermatitis in ruminants: recent perspectives

    Directory of Open Access Journals (Sweden)

    Wilson-Welder JH

    2015-05-01

    Full Text Available Jennifer H Wilson-Welder, David P Alt, Jarlath E Nally Bacterial Diseases of Livestock Research Unit, National Animal Disease Center, Agricultural Research Service, United States Department of Agriculture, Ames, IA, USA Abstract: Digital dermatitis (DD is a multifactorial polymicrobial infectious disease originally described in dairy cattle, but is increasingly recognized in beef cattle, sheep, and more recently, elk and goats. Clinical bovine lesions typically appear on the plantar surface of the hind foot from the interdigital space and heel bulb to the accessory digits, with a predilection for skin–horn junctions. Lesions present as a painful ulcerative acute or chronic inflammatory process with differing degrees of severity. This variability reflects disease progression and results in a number of different clinical descriptions with overlapping pathologies that ultimately have a related bacterial etiology. The goal of this review article is to provide a concise overview of our current understanding on digital dermatitis disease to facilitate clinical recognition, our current understanding on the causative agents, and recent advances in our understanding of disease transmission. Keywords: Digital dermatitis, treponemes, lameness, ruminant

  14. Improved outcomes on subcutaneous IgG in patients with humoral immunodeficiency and co-morbid bowel disease.

    Science.gov (United States)

    Shah, Shaili N; Todoric, Krista; Tarrant, Teresa K

    2015-07-28

    Immunoglobulin replacement can be life-saving for certain individuals with immunodeficiencies. Subcutaneous IgG (SCIG) is an increasingly used method of replacement over intravenous IgG (IVIG), with potential advantages including fewer systemic side effects, no need for IV access, patient-reported improved quality of life, and decreased cost. However, while patients with certain associated co-morbidities, such as protein-losing enteropathy, may demonstrate more stable IgG levels when on SCIG compared to IVIG, the clinical significance of these experiences is not well described. Using retrospective chart review, we examined three cases in which SCIG and IVIG was administered to patients with either common variable immunodeficiency (CVID) or secondary humoral immunodeficiency and protein-losing gastrointestinal co-morbid disease. Both outpatient and inpatient records were reviewed for data regarding treatment with IVIG versus SCIG, reported frequency and severity of infections, hospitalizations, and IgG levels. All three patients demonstrated improvement in infection rate, stability of IgG levels, and co-morbid disease when on SCIG as compared to IVIG. These findings suggest that the pharmacokinetics of SCIG may translate into more consistent serum IgG levels, contributing to clinical improvement in immunodeficient patients with protein-losing comorbidities when compared to IVIG. Limitations to this study are small patient numbers, retrospective design, and potential therapeutic bias. Further characterization of the effects of co-morbid conditions on immunoglobulin replacement is critical to providing improved and informed patient care.

  15. Postinfectious encephalomyelitis: etiologic and diagnostic trends.

    Science.gov (United States)

    Hung, K L; Liao, H T; Tsai, M L

    2000-10-01

    Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), mumps (4 cases), chicken pox (4 cases), Epstein-Barr virus infection (11 cases), mycoplasma infection (6 cases), and unknown etiology (14 cases). The cessation of measles, rubella, and mumps as causes for encephalomyelitis in our patients corresponds with the introduction of a measles-mumps-rubella nationwide vaccination program in Taiwan commencing in 1992. The main clinical symptoms were fever, headache, and/or vomiting, seizure, and motor weakness. The presenting signs included altered consciousness, meningeal signs, cranial nerve palsy, brainstem signs, involuntary movement, and cerebellar signs. Computed tomography scans were abnormal for 14 (56%) of 25 patients studied, whereas magnetic resonance imaging (MRI) disclosed lesions in 14 (82%) of 17 patients, with abnormal signals in various parts of the cerebral hemisphere, as well as in the basal ganglion, diencephalon, midbrain, brain stem, and cerebellum. Of the three patients with negative MRI findings, an abnormal finding on somatosensory evoked potential was noted for one patient, and a focal decrease in tracer uptake on single photon emission computed tomography (SPECT) was found for the other two patients. This study demonstrates that the causative agents of postinfectious encephalomyelitis in Taiwan have changed from those of traditional exanthematous diseases to nonspecific respiratory infections and suggests that this may also be the case in other parts of the world. MRI remains the imaging method of choice, whereas other neurofunctional studies such as evoked potentials and SPECT are complementary for the diagnosis.

  16. [Definition, etiology, classification and presentation forms].

    Science.gov (United States)

    Mas Garriga, Xavier

    2014-01-01

    Osteoarthritis is defined as a degenerative process affecting the joints as a result of mechanical and biological disorders that destabilize the balance between the synthesis and degradation of joint cartilage, stimulating the growth of subchondral bone; chronic synovitis is also present. Currently, the joint is considered as a functional unit that includes distinct tissues, mainly cartilage, the synovial membrane, and subchondral bone, all of which are involved in the pathogenesis of the disease. Distinct risk factors for the development of osteoarthritis have been described: general, unmodifiable risk factors (age, sex, and genetic makeup), general, modifiable risk factors (obesity and hormonal factors) and local risk factors (prior joint anomalies and joint overload). Notable among the main factors related to disease progression are joint alignment defects and generalized osteoarthritis. Several classifications of osteoarthritis have been proposed but none is particularly important for the primary care management of the disease. These classifications include etiological (primary or idiopathic forms and secondary forms) and topographical (typical and atypical localizations) classifications, the Kellgren and Lawrence classification (radiological repercussions) and that of the American College of Rheumatology for osteoarthritis of the hand, hip and knee. The prevalence of knee osteoarthritis is 10.2% in Spain and shows a marked discrepancy between clinical and radiological findings. Hand osteoarthritis, with a prevalence of symptomatic involvement of around 6.2%, has several forms of presentation (nodal osteoarthritis, generalized osteoarthritis, rhizarthrosis, and erosive osteoarthritis). Symptomatic osteoarthritis of the hip affects between 3.5% and 5.6% of persons older than 50 years and has different radiological patterns depending on femoral head migration. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  17. Alcohol-nutrient interactions in cancer etiology.

    Science.gov (United States)

    Ziegler, R G

    1986-10-15

    The cancers for which there is the most compelling epidemiologic evidence of associations with both diet and alcohol are oral, pharyngeal, laryngeal, esophageal, and liver cancer. For lung, breast, stomach, and colorectal cancer, there is reasonably strong epidemiologic evidence of associations with diet, but only moderate or equivocal evidence of associations with alcohol. For pancreatic cancer there is suggestive evidence of associations with both exposures. It is probable that the quantitative relationship and the underlying biological mechanisms of the diet-alcohol interaction will not be the same for all cancers. Heavy alcohol consumption and generally poor nutrition, possibly a deficiency of several micronutrients and food groups, were the major risk factors for esophageal cancer in a case-control study of the unusually high rates for this cancer among Washington, DC black men. It is proposed that alcohol might increase risk of esophageal cancer, in part, by reducing nutrient intake. Two descriptive studies are presented that suggest that as the percent of caloric intake from alcohol increases, the daily consumption of protein, carbohydrate, fiber, and many micronutrients steadily and significantly decreases. Alcohol consumption and low fruit and vegetable intake, as well as snuff dipping and cigarette smoking, were shown to be risk factors for oral-pharyngeal cancer in a case-control study of the high rates of these cancers among North Carolina women. Since these women were not heavy drinkers, it is not likely that alcohol functioned by altering nutritional status. A number of mechanisms for the action of alcohol in cancer etiology are presented.

  18. Role of cranial computed tomography in human immunodeficiency ...

    African Journals Online (AJOL)

    Role of cranial computed tomography in human immunodeficiency virus-positive patients with generalised seizures. ... examination remains controversial, with the general impression being that emergency imaging is necessary because immunosuppression may blur clinical indicators of acute intracranial pathology.

  19. Sudden cardiac death in patients with human immunodeficiency virus infection

    National Research Council Canada - National Science Library

    Tseng, Zian H; Secemsky, Eric A; Dowdy, David; Vittinghoff, Eric; Moyers, Brian; Wong, Joseph K; Havlir, Diane V; Hsue, Priscilla Y

    2012-01-01

    ...) in patients with human immunodeficiency virus (HIV) infection. As the HIV-infected population ages, cardiovascular disease prevalence and mortality are increasing, but the incidence and features of SCD have not yet been described...

  20. Feline immunodeficiency virus: Studies on pathogenesis and vaccine development

    NARCIS (Netherlands)

    C.H.J. Siebelink (Kees)

    1995-01-01

    textabstractFeline immunodeficiency virus (FIV) is classified as a member of the genus Lentivirus (subfamily Lentivirinae) of the Retroviridae family on basis of its morphology, biochemical characteristics, genomic organization, Mg'+ dependent reverse transcriptase, and nucleotide sequence homology

  1. Cardiovascular implications from untreated human immunodeficiency virus infection

    DEFF Research Database (Denmark)

    Baker, Jason V; Lundgren, Jens D

    2011-01-01

    Atherosclerotic cardiovascular disease (CVD) has become an important cause of morbidity and mortality among individuals with human immunodeficiency virus (HIV) infection with access to antiretroviral medications, as the risk for AIDS has fallen and life expectancy improved. Traditional CVD risk...

  2. Human immunodeficiency virus infection presenting as a fatal case ...

    African Journals Online (AJOL)

    MJP

    2015-06-25

    CMV), Epstein-. Barr virus (EBV), Hepatitis B and C virus,. Mycoplasma. Pneumoniae,. Haemophilus influenzae and Campylobacter jejuni have all been implicated in. GBS.[6]. Human immunodeficiency virus (HIV) infection has ...

  3. Sarcomas: etiología y síntomas Sarcomas: etiology and symptoms

    Directory of Open Access Journals (Sweden)

    Roberto Gabriel Albín Cano

    2012-07-01

    Full Text Available Debido a la amplia diversidad de sarcomas, casi son inexistentes los textos que incluyen todas las variedades de este tipo de cáncer. Generalmente, su descripción y revisión se incluyen en las del sistema de órganos afectados específicamente, y la literatura que los aborda está muy fragmentada en las diferentes especialidades médicas. Se realiza una revisión bibliográfica sobre la etiología y síntomas de la mayor parte de los diferentes tipos de sarcomas. Es objetivo de esta revisión, lograr unir la información más actual disponible acerca de la etiología y síntomas de los sarcomas. Se han identificado diferentes factores de riesgo y factores etiológicos, tanto genéticos, infecciosos, como ambientales. Los grandes descubrimientos en relación con los mecanismos genéticos involucrados en los diferentes tipos de sarcoma, han abierto un camino de inestimable valor para introducir nuevos tratamientos, que incluyen ensayos con anticuerpos monoclonales y nuevos fármacos de terapia génica.

    Due to the wide diversity of sarcomas, almost no texts include all varieties of this type of cancer. Generally, their description and review is included in those of the specifically affected organ system, and the literature containing that information is very fragmented in different medical specialties. We performed a literature review on the etiology and symptoms of most types of sarcomas. It is aimed at achieving a recompilation of most current information available on the causes and symptoms of sarcomas. Different risks and etiologic factors have been identified regarding genetics, infections, and environment. The great discoveries regarding genetic mechanisms involved in different types of sarcomas, have opened an invaluable way to introduce new treatments, including monoclonal antibodies and new drugs of gene therapy.

  4. 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.)

  5. Evolution of the V3 envelope domain in proviral sequences and isolates of human immunodeficiency virus type 1 during transition of the viral biological phenotype

    NARCIS (Netherlands)

    Kuiken, C. L.; de Jong, J. J.; Baan, E.; Keulen, W.; Tersmette, M.; Goudsmit, J.

    1992-01-01

    The third variable domain (V3) of the envelope gene of human immunodeficiency virus type 1 contains a major neutralization epitope and determinants of syncytium-inducing (SI) capacity and replication rate (reviewed by J. P. Moore and P. L. Nara, AIDS Suppl. 2:S21-S33, 1991). Sequences were generated

  6. Electrostatic potential of human immunodeficiency virus type 2 and rhesus macaque simian immunodeficiency virus capsid proteins

    Directory of Open Access Journals (Sweden)

    Katarzyna eBozek

    2012-06-01

    Full Text Available Human immunodeficiency virus type 2 (HIV-2 and simian immunodeficiency virus isolated from a macaque monkey (SIVmac are assumed to have originated from simian immunodeficiency virus isolated from sooty mangabey (SIVsm. Despite their close similarity in genome structure, HIV-2 and SIVmac show different sensitivities to TRIM5α, a host restriction factor against retroviruses. The replication of HIV-2 strains is potently restricted by rhesus (Rh monkey TRIM5α, while that of SIVmac strain 239 (SIVmac239 is not. Viral capsid protein is the determinant of this differential sensitivity to TRIM5α, as the HIV-2 mutant carrying SIVmac239 capsid protein evaded Rh TRIM5α-mediated restriction. However, the molecular determinants of this restriction mechanism are unknown. Electrostatic potential on the protein-binding site is one of the properties regulating protein-protein interactions. In this study, we investigated the electrostatic potential on the interaction surface of capsid protein of HIV-2 strain GH123 and SIVmac239. Although HIV-2 GH123 and SIVmac239 capsid proteins share more than 87% amino acid identity, we observed a large difference between the two molecules with the HIV-2 GH123 molecule having predominantly positive and SIVmac239 predominantly negative electrostatic potential on the surface of the loop between α-helices 4 and 5 (L4/5. As L4/5 is one of the major determinants of Rh TRIM5α sensitivity of these viruses, the present results suggest that the binding site of the Rh TRIM5α may show complementarity to the HIV-2 GH123 capsid surface charge distribution.

  7. Abfraction lesions: etiology, diagnosis, and treatment options

    Directory of Open Access Journals (Sweden)

    Nascimento MM

    2016-05-01

    Full Text Available Marcelle M Nascimento,1 Deborah A Dilbone,1 Patricia NR Pereira,1 Wagner R Duarte,2,3 Saulo Geraldeli,1 Alex J Delgado1 1Department of Restorative Dental Sciences, Division of Operative Dentistry, 2Department of Periodontology, College of Dentistry, University of Florida, Gainesville, FL, USA; 3Private Practice, Brasilia, DF, Brazil Abstract: Abfraction is a type of noncarious cervical lesion (NCCL characterized by loss of tooth tissues with different clinical appearances. Evidence supports that abfraction lesions, as any NCCLs, have a multifactorial etiology. Particularly, the cervical wear of abfraction can occur as a result of normal and abnormal tooth function and may also be accompanied by pathological wear, such as abrasion and erosion. The interaction between chemical, biological, and behavioral factors is critical and helps to explain why some individuals exhibit more than one type of cervical wear mechanism than others. In an era of personalized dentistry, patient risk factors for NCCLs must be identified and addressed before any treatment is performed. Marked variations exist in dental practice concerning the diagnosis and management of these lesions. The lack of understanding about the prognosis of these lesions with or without intervention may be a major contributor to variations in dentists’ management decisions. This review focuses on the current knowledge and available treatment strategies for abfraction lesions. By recognizing that progressive changes in the cervical area of the tooth are part of a physiologically dynamic process that occurs with aging, premature and unnecessary intervention can be avoided. In cases of asymptomatic teeth, where tooth vitality and function are not compromised, abfraction lesions should be monitored for at least 6 months before any invasive procedure is planned. In cases of abfraction associated with gingival recession, a combined restorative-surgical approach may be performed. Restorative

  8. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Directory of Open Access Journals (Sweden)

    De Golovine Serge

    2012-07-01

    Full Text Available Abstract Goldenhar syndrome (GS results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

  9. Infections and immunodeficiency in Down syndrome.

    Science.gov (United States)

    Ram, G; Chinen, J

    2011-04-01

    Down syndrome (DS) is the most common genetic disease and presents with cognitive impairment, cardiac and gastrointestinal abnormalities, in addition to other miscellaneous clinical conditions. DS individuals may have a high frequency of infections, usually of the upper respiratory tract, characterized by increased severity and prolonged course of disease, which are partially attributed to defects of the immune system. The abnormalities of the immune system associated with DS include: mild to moderate T and B cell lymphopenia, with marked decrease of naive lymphocytes, impaired mitogen-induced T cell proliferation, reduced specific antibody responses to immunizations and defects of neutrophil chemotaxis. Limited evidence of genetic abnormalities secondary to trisomy of chromosome 21 and affecting the immune system is available, such as the potential consequences of gene over-expression, most significantly SOD1 and RCAN1. Secondary immunodeficiency due to metabolic or nutritional factors in DS, particularly zinc deficiency, has been postulated. Non-immunological factors, including abnormal anatomical structures (e.g. small ear canal, tracheomalacia) and gastro-oesophageal reflux, may play a role in the increased frequency of respiratory tract infections. The molecular mechanisms leading to the immune defects observed in DS individuals and the contribution of these immunological abnormalities to the increased risk of infections require further investigation. Addressing immunological and non-immunological factors involved in the pathogenesis of infectious diseases may reduce the susceptibility to infections in DS subjects. © 2011 The Authors. Clinical and Experimental Immunology © 2011 British Society for Immunology.

  10. Immunodeficiency and laser magnetic therapy in urology

    Science.gov (United States)

    Maati, Moufagued; Rozanov, Vladimir V.; Avdoshin, V. P.

    1996-11-01

    The importance of immunodeficiency problem has increased last time not only due to AIDS appearance, but also to a great extent as a result of the development and active practical use of the methods of immunology parameters investigations. Al great pharmaceutical firms are organizing the process of creating the drugs, influencing on the different phases of immunity, but unfortunately, the problem of their adverse effect and connected complications is till today a milestone. A great number of investigations, proving a good effect of laser-magnetic therapy concerning immune system have been done today. There is, in particular, changing of blood counts and immunologic tests after intravenous laser irradiation of blood. Intravenous laser irradiation of blood results in increasing of lymphocytes, T-immuno stimulation, stabilization of t-lymphocyte subpopulation, increasing of t-lymphocyte helper activity and decreasing of suppressor one.Under this laser action number of circulating immune complexes is decreased, and blood serum bactericide activity and lisozyme number are increased.

  11. Pediatric Selective IgM Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Marc F. Goldstein

    2008-01-01

    Full Text Available Objective. Limited information exists on features of pediatric Selective IgM immunodeficiency (SIgMID. Previously published pediatric cases and 2 new cases are reviewed. Methods. English literature from PubMed and references from relevant articles were reviewed. Previously reported cases and 2 new cases from an allergy/immunology practice were analyzed. Results. Forty-nine reported cases of SIgMID presented with respiratory infections (77.6%, gastrointestinal disease (16.3%, skin disease (12.2%, and meningitis (8.2%. Mean serum IgM level was 16.5±13.8 mg/dL. Two patients were identified with SIgMID among 6300 active pediatric patients (0.03% presenting with asthma, vasomotor rhinitis, and recurrent respiratory infections. In the 51 cases reported, none developed lymphoproliferative disease nor evolved into panhypogammaglobulinemia; four fatalities were reported. Conclusions. The prevalence of SIgMID in our pediatric population was 0.03%. In general, respiratory infections are the common comorbid conditions. Death and autoimmune disease are uncommon complications of pediatric SIgMID.

  12. Phylodynamics of the Brazilian feline immunodeficiency virus.

    Science.gov (United States)

    Cano-Ortiz, Lucía; Junqueira, Dennis Maletich; Comerlato, Juliana; Costa, Cristina Santos; Zani, André; Duda, Naila Blatt; Tochetto, Caroline; Dos Santos, Raissa Nunes; da Costa, Fernanda Vieira Amorim; Roehe, Paulo Michel; Franco, Ana Cláudia

    2017-11-01

    Feline immunodeficiency virus (FIV), like other retroviruses, displays large genomic divergence when different isolates are compared. In this study, 31 FIV positive samples of domestic cats from Porto Alegre, RS, Brazil were used aiming at a detailed genomic characterization and a better understanding of the molecular epidemiology of the virus in Brazil. The proviral env genes were partially amplified, sequenced and compared with another 237 sequences from different continents. We identified several Brazilian highly supported clades (A, B1, B2, C and D) that suggest independent events of introduction of FIV in Brazil. Forty six reference-sequences from the GenBank were used with our 31 sequences to infer the virus subtypes. Our sequences belong to the subtype B and three of them result from a recombination with the previously described subtype F. The other 28 Brazilian samples belonging to subtype B and another 46 Brazilian sequences from the GenBank were used to estimate the time to the most recent common ancestor of each Brazilian clade, using a Bayesian approach and a relaxed molecular clock model. The analyses of Brazilian sequences suggest several different entries of the virus in the Brazilian cat population between 1981 and 1991. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. [Cerebral infarction in human immunodeficiency virus infection].

    Science.gov (United States)

    Blanche, P; Toulon, P; de La Blanchardière, A; Sicard, D

    1995-06-03

    Patients infected with the human immunodeficiency virus (HIV) appear to have a high risk of ischaemic cerebral events. We observed two cases of cerebral infarction in patients with acquired immune deficiency syndrome (AIDS). In the first case, a 38-year-old homosexual with no cardiovascular risk other than smoking presented with rapidly progressive hemiparesia. Brain CT-scan visualized two infarcts in the territory of the right sylvian artery and the arteriography an occlusion of the internal carotid artery. In the second, a 37-year-old homosexual, hospitalization was required for a left-sided pure sensitive epilepsy seizure. There was no cardiovascular risk other than smoking. Magnetic resonance imaging showed parietal ischaemia and thrombus in the left atrium without atrial hypertrophy was seen at transoesophageal echocardiography. In both cases, there was no evidence of endocarditis, dissection of the neck vessels or disseminated intravascular coagulation nor of associated viral or bacterial infectious complication of AIDS. Angiographic findings eliminated cerebral vascularitis. Among the perturbed haemostasis factors previously reported in HIV+ patients, we observed free proteins S deficiency (68 and 43%) and heparin cofactor II deficiency (54 and 40%). Serum albumin was 33 and 32 g/l respectively. Outcome was favourable in both cases with anticoagulant therapy. These coagulation anomalies would not appear sufficient to explain cerebral infarction. Other mechanisms including immune complexed deposition, direct HIV toxicity for endothelial cells or the effect of cytokines on smooth muscles fibres and fibroblasts are probably more important causal factors.

  14. 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.

  15. 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.

  16. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Science.gov (United States)

    2012-01-01

    Goldenhar syndrome (GS) results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female) averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female) also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents. PMID:22747588

  17. Delusional parasitosis and the dopamine transporter. A new insight of etiology?

    Science.gov (United States)

    Huber, M; Kirchler, E; Karner, M; Pycha, R

    2007-01-01

    Delusional parasitosis (DP) is a psychotic condition in which a person has the unshakeable and mistaken belief (delusion) and/or aberrant perception (hallucination) of being infested with parasites. The disorder will be usually classified in a primary DP-group without a detectable cause (so-called pure forms), while secondary DP-groups are associated with general organic conditions, psychiatric illnesses and drugs (substance induced). Etiology and pathophysiology of DP remain however unknown. In the present paper we hypothesize for the first time a decreased striatal dopamine transporter (DAT)-functioning (corresponding with an increased extracellular dopamine-level) as etiologic condition for DP (primary and secondary groups). The DAT as key regulator of the dopamine-reuptake in the human brain is well known (regulation of the extracellular dopamine concentration). It is a presynaptic plasma membrane protein highly dense represented in the striatum. The hypothesis of a decreased DAT-functioning as etiologic condition by DP is revealed in case reports which show that DAT-inhibitors, such as cocaine, pemoline, methylphenidate and other amphetamine-derivatives can induce the clinical expression of DP. Several other associated causes of secondary DP-groups (medications, parkinson, chorea huntington, multiple system atrophy, diabetes, cerebrovascular diseases, alcoholism, traumatic brain injury, hyperuricemia, human immunodeficiency virus, iron deficiency, schizophrenia, depression) suggest that the clinical expression of DP may be related to a decreased striatal DAT-functioning (blocking, reduced ligand binding, reduced density, reduced activity). Our examined DP-cases (2-females) show means of magnetic resonance imaging a structurally damaged striatum. Furthermore, we presume that by the primary DP-group, the physiologically age-related decline of the DAT-density is pathologically elevated. Based on this hypothesis we show in the present paper the relation between DP

  18. Histoplasmosis in Patients With Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS)

    Science.gov (United States)

    Anderson, Albert M.; Sanchez, Alejandro; Farabi, Alireza; Hage, Chadi; Baddley, John W.; Jhaveri, Malhar; Greenberg, Richard N.; Bamberger, David M.; Rodgers, Mark; Crawford, Timothy N.; Wheat, L. Joseph

    2014-01-01

    Abstract Although discontinuation of suppressive antifungal therapy for acquired immunodeficiency syndrome (AIDS)-associated histoplasmosis is accepted for patients with immunologic recovery, there have been no published studies of this approach in clinical practice, and minimal characterization of individuals who relapse with this disease. We performed a multicenter retrospective cohort study to determine the outcome in AIDS patients following discontinuation of suppressive antifungal therapy for histoplasmosis. Ninety-seven patients were divided into a physician-discontinued suppressive therapy group (PD) (38 patients) and a physician-continued suppressive therapy group (PC) (59 patients). The 2 groups were not statistically different at baseline, but at discontinuation of therapy and at the most recent follow-up there were significant differences in adherence to therapy, human immunodeficiency virus (HIV) RNA, and urinary Histoplasma antigen concentration. There was no relapse or death attributed to histoplasmosis in the PD group compared with 36% relapse (p 150 cells/mL, HIV RNA <400 c/mL, Histoplasma antigenuria <2 ng/mL (equivalent to <4.0 units in second-generation method), and no CNS histoplasmosis. PMID:24378739

  19. Human immunodeficiency virus/acquired immunodeficiency syndrome and tropical diseases: a Brazilian perspective

    Directory of Open Access Journals (Sweden)

    Morgado Mariza G

    2000-01-01

    Full Text Available The paper summarizes recent findings on the epidemiology and pathogenesis of human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/Aids, highlighting the role of co-infections with major tropical diseases. Such co-infections have been studied in the Brazilian context since the beginning of the Aids epidemic and are expected to be more frequent and relevant as the Aids epidemic in Brazil proceeds towards smaller municipalities and the countryside, where tropical diseases are endemic. Unlike opportunistic diseases that affect basically the immunocompromised host, most tropical diseases, as well as tuberculosis, are pathogenic on their own, and can affect subjects with mild or no immunossuppression. In the era of highly active anti-retroviral therapies (HAART, opportunistic diseases seem to be on decrease in Brazil, where such medicines are fully available. Benefiting from HAART in terms of restoration of the immune function, putative milder clinical courses are expected in the future for most co-infections, including tropical diseases. On the other hand, from an ecological perspective, the progressive geographic diffusion of Aids makes tropical diseases and tuberculosis a renewed challenge for Brazilian researchers and practitioners dealing with HIV/Aids in the coming years.

  20. Lack of evidence for a role of T-cell-associated retroviruses as an etiology of schizophrenia.

    Science.gov (United States)

    Feenstra, A; Kirch, D G; Bracha, H S; Wyatt, R J

    1989-02-15

    The evidence that schizophrenia may involve infection by a virus (or viruses) has been indirect. The recent discovery, however, of the human retroviruses--human T-cell lymphoma-leukemia virus-I, and II (HTLV-I, -II) and human immunodeficiency virus (HIV)--now also known to affect the central nervous system (CNS), together with the development of new techniques in retrovirology, have made it possible to investigate more directly the role of this class of viruses as an etiology of schizophrenia. In our first effort to screen for the presence of a T-cell lymphotropic virus in schizophrenia, short-term tissue cultures of peripheral lymphocytes from 17 chronic schizophrenic patients and 10 normal controls were established. The cells were cultured in the presence of T-cell growth factor (TCGF, IL-2), and the culture supernatants were tested for the presence of the retroviral enzyme reverse transcriptase. No T-cell-associated reverse transcriptase activity was detected in cultures from patients or normal controls. Therefore, the data do not provide evidence for a role for T-cell lymphotropic retroviruses as an etiology of schizophrenia.

  1. A fatal case of JC virus meningitis presenting with hydrocephalus in a human immunodeficiency virus-seronegative patient.

    Science.gov (United States)

    Agnihotri, Shruti P; Wuthrich, Christian; Dang, Xin; Nauen, David; Karimi, Reza; Viscidi, Raphael; Bord, Evelyn; Batson, Stephanie; Troncoso, Juan; Koralnik, Igor J

    2014-07-01

    JC virus (JCV) is the etiologic agent of progressive multifocal leukoencephalopathy, JCV granule cell neuronopathy, and JCV encephalopathy. Whether JCV can also cause meningitis has not yet been demonstrated. We report a case of aseptic meningitis resulting in symptomatic hydrocephalus in a human immunodeficiency virus-seronegative patient. Brain imaging showed enlargement of ventricles but no parenchymal lesion. She had a very high JC viral load in the cerebrospinal fluid (CSF) and developed progressive cognitive dysfunction despite ventricular drainage. She was diagnosed with pancytopenia and passed away after 5.5 months. Postmortem examination revealed productive JCV infection of leptomeningeal and choroid plexus cells, and limited parenchymal involvement. Sequencing of JCV CSF strain showed an archetype-like regulatory region. Further studies of the role of JCV in aseptic meningitis and in idiopathic hydrocephalus are warranted. © 2014 American Neurological Association.

  2. Etiology of obsessive-compulsive symptoms and obsessive-compulsive personality traits: common genes, mostly different environments.

    Science.gov (United States)

    Taylor, Steven; Asmundson, Gordon J G; Jang, Kerry L

    2011-10-03

    Little is known about the etiologic relationship between obsessive-compulsive (OC) symptoms and traits of OC personality disorder. The traits include perfectionism and rigidity. Some theorists have proposed that OC personality disorder is one of several disorders falling within an OC spectrum. This implies that OC personality traits and symptoms should have etiologic factors in common, and this should not be simply because symptoms and traits are both shaped by nonspecific etiological influences, such as those shaping negative emotionality (neuroticism). To investigate these issues, a community sample of 307 pairs of monozygotic and dizygotic adult twins provided scores on six types of OC-related symptoms, two markers of negative emotionality, and a measure of OC personality traits. Analyses indicated that symptoms and traits arose from a combination of genetic and nonshared environmental factors. A matrix of genetic correlations was computed among the variables, which represented the correlations between the genetic components of pairs of variables. A matrix of environmental correlations was similarly computed. Each matrix was factor analyzed. One genetic factor was obtained, indicating that all variables were influenced by a common genetic factor. Three environmental factors were obtained, with salient loadings on either (a) all six OC symptoms, (b) negative emotionality and obsessing, or (c) OC personality traits and ordering. OC symptoms and traits were etiologically related primarily because they are shaped by the same nonspecific genetic factor that influenced negative emotionality. Implications for the concept of the OC spectrum are discussed. © 2011 Wiley-Liss, Inc.

  3. Etiología del colesteatoma ótico Etiology of otic cholesteatoma

    Directory of Open Access Journals (Sweden)

    Julianis Loraine Quintero Noa

    2011-12-01

    Full Text Available El colesteatoma es una estructura quística caracterizada por la presencia de epitelio escamoso productor de queratina, que sustituye o recubre la mucosa normal en la hendidura del oído medio y ápex petroso, y puede ser causa de hipoacusia irreversible, destrucción ósea y graves complicaciones por su crecimiento expansivo. Clásicamente se describen los colesteatomas en congénitos y adquiridos. La etiología de su formación es multifactorial y continúa siendo poco claro y controversial. Se reportan diferentes teorías que han tratado de explicar el colesteatoma congénito, la transición de un bolsillo de retracción hasta la aparición del colesteatoma adquirido primario, y otras en la génesis del colesteatoma adquirido secundario. Se describe la presencia de algunas citoquinas dentro del colesteatoma que inducen la hiperproliferación e invasión incoordinada de los queratinocitos de la piel del conducto auditivo externo y la pars fláccida, más agresiva en el colesteatoma adquirido pediátrico, y que desempeñan un papel fundamental en la proliferación y en la apoptosis del queratinocito. En cultivo in vitro de una muestra de tejido colesteatomatoso, se ha identificado recientemente que el TNF-a estimula la producción de la IL-8. Se considera de interés ofrecer esta revisión sobre la etiología del colesteatoma, que aún se mantiene en el campo de la investigación y continúa siendo un reto para los otocirujanos por su alta incidencia de recidivas y posibles complicaciones.Cholesteatoma is a cystic structure characterized by presence of squamous epithelium producing keratin substituting or recovering the normal mucosa in the groove of middle ear and petrous apex and may to be caused by irreversible hypoacusia, bone destruction and severe complications due to its expansive growth. Typically the cholesteatomas are described as congenital and acquired. The etiology of its formation is multifactor and still remains a subject not

  4. Burden, etiology and predictors of visual impairment among children ...

    African Journals Online (AJOL)

    . Knowledge of CVI is important in planning preventive measures. The aim of this study was determine the prevalence, etiology and the factors associated with childhood visual impairment among the children attending the eye clinic in Mulago ...

  5. Critical analysis of vestibular rehabilitation outcome according to dizziness etiology.

    Science.gov (United States)

    Bittar, Roseli Saraiva Moreira; Pedalini, Maria Elisabete Bovino; Ramalho, Jeanne Oiticica; Yoshimura, Ricardo

    2007-01-01

    Vestibular rehabilitation (VR) is an excellent therapy for dizziness patients. However, despite well managed, sometimes results are not suitable. evaluate VR outcome between patients according to dizziness etiology. Retrospective review of medical records. Patients records were analyzed between January 2002 and December 2004. As for inclusion criteria, patients should have had finished VR therapy and an established diagnosis. Patients were included in three VR outcome groups and compared according to etiology. according to VR outcome 13 patients had no improvement, 24 had partial improvement and 22 complete improvement. The main etiologies were cervical syndrome, trauma, metabolic disorders, central nervous system disorders, anxiety and mood disorders, autoimmune disease and orthostatic intolerance. Patients with metabolic disorders showed better VR outcome than the others. VR therapy combined with clinical etiology treatment is an excellent approach for dizziness patients.

  6. Editorial comment on “Etiology of male urethral strictures ...

    African Journals Online (AJOL)

    Etiology of male urethral strictures—Evaluation of temporal changes at a single center, and review of the literature”. Guido Barbagli. ∗. Professor of Urology, Head of the Center for Reconstructive Urethral Surgery. Center for Reconstructive Urethral ...

  7. Hyaluronidase facilitated subcutaneous immunoglobulin in primary immunodeficiency

    Directory of Open Access Journals (Sweden)

    Jolles S

    2013-09-01

    Full Text Available Stephen Jolles Department of Immunology, University Hospital of Wales, Cardiff, UK Abstract: Immunoglobulin (Ig-replacement therapy represents the mainstay of treatment for patients with primary antibody deficiency and is administered either intravenously (IVIg or subcutaneously (SCIg. While hyaluronidase has been used in clinical practice for over 50 years, the development of a high-purity recombinant form of this enzyme (recombinant human hyaluronidase PH20 has recently enabled the study of repeated and more prolonged use of hyaluronidase in facilitating the delivery of SC medicines. It has been used in a wide range of clinical settings to give antibiotics, local anesthetics, insulin, morphine, fluid replacement, and larger molecules, such as antibodies. Hyaluronidase has been used to help overcome the limitations on the maximum volume that can be delivered into the SC space by enabling dispersion of SCIg and its absorption into lymphatics. The rate of facilitated SCIg (fSCIg infusion is equivalent to that of IVIg, and the volume administered at a single site can be greater than 700 mL, a huge increase over conventional SCIg, at 20–40 mL. The use of fSCIg avoids the higher incidence of systemic side effects of IVIg, and it has higher bioavailability than SCIg. Data on the long-term safety of this approach are currently lacking, as fSCIg has only recently become available. fSCIg may help several areas of patient management in primary antibody deficiency, and the extent to which it may be used in future will depend on long-term safety data and cost–benefit analysis. Keywords: enzyme facilitated IgG infusion, recombinant human hyaluronidase PH20, subcutaneous immunoglobulin, intravenous immunoglobulin, primary immunodeficiency disease

  8. Pediatric Dental Trauma:Wide Horizon of Ignored Etiological Factors

    OpenAIRE

    Anegundi, Rajesh T; Patil, Shruthi B.; M, Shubha; Havale, Raghavendra

    2010-01-01

    Trauma of the oral and peroral structures are one of the most common and frequent complaints after dental caries with which a child is being referred to a dental clinic. As an emergency, we tend to treat the injuries without understanding or neglecting the cause of trauma. The different possible etiological factors are unnoticed, not revealed or not noted while taking the history of the patient. Sometimes negligence of the etiology by the dentist himself or the accompanying person could influ...

  9. Etiology and pathogenesis of pectus excavatum in children

    Directory of Open Access Journals (Sweden)

    I. O. Kulik

    2013-01-01

    Full Text Available Funnel chest is the most common chest deformity characterized by the depression of sternum and rib cartilages. In spite of the centuries-old history of pectus excavatum investigation, plenty of publications on etiology and pathogenesis and many theories on this theme no one of them is generally accepted. This article is to summarize the modern views on the etiology and pathogenesis of funnel chest.

  10. Criteria for early etiological diagnosis of serous meningitis in children

    Directory of Open Access Journals (Sweden)

    Лариса Анатольевна Ходак

    2015-06-01

    Full Text Available To improve early etiological diagnosis of serous meningitis in children, the differential diagnostic algorithms have been developed.Methods. 220 children with serous meningitis(SM aged 1 to 17 years were divided into 3 groups depending on the etiological factor: 1 enterovirus SM (n=130; 2 herpesvirus SM (n=14; 3 enterovirus SM combined with persistent herpes virus infection (n=76. In the alternative groups of patients (in all combinations, the differential diagnostic significance of clinical and laboratory parameters has been evaluated by means of Wald–Genkin heterogeneous sequential procedure. All studied traits were divided into gradations and then differential diagnostic coefficients (DC and diagnostic information (I were obtained separately for the clinical indicators, CSF indicators and full blood count. The indicators were distributed in the descending order of their self-descriptiveness that, in future, taking into account the most significant of them, allowed to form a generalized diagnostic algorithms in each comparison group.Results. Differential algorithmic diagnosis is obtained by means of algebraic summation of DC until the diagnostic threshold is reached. For 95 percent confidence level, the threshold sum is DK≥13,0. Etiologic diagnosis of SM involves the use of all three algorithms, that is, differentiation is conducted between SM herpesvirus, enterovirus etiology and SM enterovirus etiology in combination with persistent herpes virus infection. When reaching the diagnostic threshold in favor of certain etiology, the appropriate diagnosis is made. In case the diagnostic threshold for two etiological factors is reached, the final diagnosis is formulated on the basis of the differential diagnosis data.Conclusions. The developed algorithms of early etiological diagnosis of SM in children are highly reliable (≥95% and minimize the number of indicators required for diagnosis with a given level of reliability

  11. THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION

    OpenAIRE

    Prasad, K.M.R.; Girimaji, S.R.; Manjunatha, K.R.; Khanna, Neelam; Rao, B.S.S.; Ravi, V.; MURTHY, R. SRINIVASA; Vani, K.R.

    1995-01-01

    Microcephaly with mental retardation forms a distinct subgroup among mentally retarded individuals. The paucity of studies on the etiology of this condition in India made the investigators to study this population. It HTO aimed to study the demographic and clinical characteristics, and the etiologic pattern in children with microcepltaly and mental retardation The sample consisted of 82 children who were examined by detailed clinical assessment and a battery of investigations. A definite etio...

  12. Heart failure etiology impacts survival of patients with heart failure

    DEFF Research Database (Denmark)

    Pecini, Redi; Møller, Daniel Vega; Torp-Pedersen, Christian

    2010-01-01

    BACKGROUND: The impact of heart failure (HF) etiology on prognosis of HF is not well known. METHODS: 3078 patients (median age 75years, 61% male) hospitalized with HF were studied. Patients were classified into six etiology groups: hypertension (HTN, 13.9%), ischemic heart disease (IHD, 42...... risk, HR 1.71 (CI: 1.3-2.2, p/=30% (HR 1.3, CI: 1.0-1.5, p=0.03), compared to the reference (p-value for interaction...

  13. [Infectious mononucleosis: etiology, immunological variants, methods of correction].

    Science.gov (United States)

    Gordeets, A V; Savina, O G; Beniova, S N; Chernikova, A A

    2011-01-01

    Clinical options of infectious mononucleosis course depending on infecting agent etiology are presented for Epstein-Barr virus (EBV), cytomegalovirus (CMV), mono and mixed forms of the disease. Examined cytokine profiles demonstrate analogous changes of serum cytokines in the acute stage of the disease irrespective of etiological factors. Data show that it is important and useful clinically and immunologically to include immunomodulators--in particular, cycloferon--info a complex therapy of different types of mononucleosis.

  14. Microscopic colitis: A review of etiology, treatment and refractory disease

    OpenAIRE

    Park, Tina; Cave, David; Marshall, Christopher

    2015-01-01

    Microscopic colitis is a common cause of chronic, nonbloody diarrhea. Microscopic colitis is more common in women than men and usually affects patients in their sixth and seventh decade. This article reviews the etiology and medical management of microscopic colitis. The etiology of microscopic colitis is unknown, but it is associated with autoimmune disorders, such as celiac disease, polyarthritis, and thyroid disorders. Smoking has been identified as a risk factor of microscopic colitis. Ex...

  15. Pouchitis – What’s new in etiology and management

    Directory of Open Access Journals (Sweden)

    R John Nicholls

    1995-01-01

    Full Text Available Pouchitis requires a clear clinicopathological definition. There are many conflicting data concerning etiology. It is linked to an initial diagnosis of ulcerative colitis by clinical association and occurrence of extra-alimentary manifestations, histologically and by macrophage types and inflammatory mediators. Evidence for a bacteriological cause comes from response to metronidazole, increased counts of intramucosal bacteria in pouchitis and the possible association of hypochlorhydria. Most studies have, however, shown no specific bacterial pathogen or luminal bacterial count differences in pouches with or without pouchitis. Abnormal fecal bile salt concentrations have been reported. Stasis and evacuation efficiency of the pouch are not associated with pouchitis in most studies. Reduced mucosal bloodflow may be associated perhaps leading to increased permeability to toxins causing activation of interleukin-1, platelet-activating factor (PAF and tumour necrosis factor (TNF. PAF may be increased in pouchitis. Pouchitis may respond to allopurinol. Volatile short chain fatty acids (VSFA may be reduced in ileal reservoirs compared with straight ileoanal segments and in pouchitis. The response of pouchitis to administered VSFA is, however, variable. Glutamine administration may help. There is evidence that intraepithelial T lymphocytes are reduced. Crypt cell turnover is higher in colitic than in polypotic pouches. Mucosal morphological changes of villous atrophy and inflammation occur early after relapsing polychondritis and may predict future susceptibility to pouchitis. Early mucosal biopsy appears to have prognostic value. Metronidazole and antibiotics (amoxicillin/potassium clavulanate, ciprofloxacin may be effective although in a controlled trial of the former there was little advantage over placebo. The results of treatment using VSFA, glutamine, allopurinol sucralfate and anti-inflammatory agents, including aminosalicylic acid (5-ASA and

  16. Multifactorial etiology of Torus mandibularis: study of twins.

    Science.gov (United States)

    Auškalnis, Adomas; Rutkūnas, Vygandas; Bernhardt, Olaf; Šidlauskas, Mantas; Šalomskienė, Loreta; Basevičienė, Nomeda

    2015-01-01

    The aim of this study is to investigate the multifactorial etiology of mandibular tori analyzing the influence of genetics, occlusal overload, various clinical variables and their interactions. Overall, plaster casts of 162 twins (81 twin pairs) were analyzed for the presence or absence of mandibular tori. Atypical wear facets on canine tips or incisors were recorded to diagnose bruxism. Angle Class, any kind of anterior open bite and positive, negative or flat curve of Wilson were recorded. Zygosity determination was carried out using a DNA test. Mandibular tori were found in 56.8% of the cases. In 93.6% of all monozygotic twin pairs both individuals had or did not have mandibular tori (κ=0.96±0.04; pPrevalence of mandibular tori was significantly higher in the group of bruxers (67.5%) compared to non-bruxers (31.3%) (p<0.001). Significant association between mandibular tori and negative or flat curve of Wilson in the maxillary second premolars and first molars was found (OR=2.55, 95% CI (1.19-5.46), p=0.016). In all monozygotic bruxers, 97.1% showed concordance of mandibular tori presence in both co-twins compared to 78.9% dizygotic bruxers, and this difference is statistically significant (p=0.007). Our results suggest that the mandibular tori are of a multifactorial origin. Mandibular tori seem to have genetic predisposition, and may be associated with teeth grinding as well as with negative or flat CW in region of maxillary second premolar and first molar.

  17. Pelvic floor tenderness in the etiology of superficial dyspareunia.

    Science.gov (United States)

    Yong, Paul J; Mui, Justin; Allaire, Catherine; Williams, Christina

    2014-11-01

    To calculate the prevalence of pelvic floor tenderness in the population of women with pelvic pain and to determine its implications for symptoms of pelvic pain. We conducted a retrospective review of patients with pelvic pain at a tertiary referral centre. Pelvic floor tenderness was defined as levator ani tenderness on at least one side during single digit pelvic examination. The prevalence of pelvic floor tenderness in this cohort of women with pelvic pain was compared with the prevalence in a cohort of women without pain attending a gynaecology clinic. In the women with pelvic pain, multiple regression was performed to determine which variables were independently associated with pelvic floor tenderness. The prevalence of pelvic floor tenderness was 40% (75/189) in the cohort with pelvic pain, significantly greater than the prevalence of 13% (4/32) in the cohort without pain (OR 4.61; 95% CI 1.55 to 13.7, P = 0.005). On multiple logistic regression, superficial dyspareunia (OR 4.45; 95% CI 1.86 to 10.7, P = 0.001), abdominal wall pain (OR 4.04; 95% CI 1.44 to 11.3, P = 0.005), and bladder base tenderness (OR 4.65; 95% CI 1.87 to 11.6, P = 0.001) were independently associated with pelvic floor tenderness. Pelvic floor tenderness was similarly present in women with or without underlying endometriosis. Pelvic floor tenderness is common in women with pelvic pain, with or without endometriosis, and is a contributor to superficial dyspareunia. Pelvic floor tenderness was also associated with abdominal wall pain and bladder base tenderness, suggesting that nervous system sensitization is involved in the etiology of pelvic floor tenderness.

  18. The developmental etiology and pathogenesis of Hirschsprung disease.

    Science.gov (United States)

    Butler Tjaden, Naomi E; Trainor, Paul A

    2013-07-01

    The enteric nervous system is the part of the autonomic nervous system that directly controls the gastrointestinal tract. Derived from a multipotent, migratory cell population called the neural crest, a complete enteric nervous system is necessary for proper gut function. Disorders that arise as a consequence of defective neural crest cell development are termed neurocristopathies. One such disorder is Hirschsprung disease (HSCR), also known as congenital megacolon or intestinal aganglionosis. HSCR occurs in 1/5000 live births and typically presents with the inability to pass meconium, along with abdominal distension and discomfort that usually requires surgical resection of the aganglionic bowel. This disorder is characterized by a congenital absence of neurons in a portion of the intestinal tract, usually the distal colon, because of a disruption of normal neural crest cell migration, proliferation, differentiation, survival, and/or apoptosis. The inheritance of HSCR disease is complex, often non-Mendelian, and characterized by variable penetrance. Extensive research has identified a number of key genes that regulate neural crest cell development in the pathogenesis of HSCR including RET, GDNF, GFRα1, NRTN, EDNRB, ET3, ZFHX1B, PHOX2b, SOX10, and SHH. However, mutations in these genes account for only ∼50% of the known cases of HSCR. Thus, other genetic mutations and combinations of genetic mutations and modifiers likely contribute to the etiology and pathogenesis of HSCR. The aims of this review are to summarize the HSCR phenotype, diagnosis, and treatment options; to discuss the major genetic causes and the mechanisms by which they disrupt normal enteric neural crest cell development; and to explore new pathways that may contribute to HSCR pathogenesis. Copyright © 2013 Mosby, Inc. All rights reserved.

  19. Bilateral Vestibular Hypofunction: Insights in Etiologies, Clinical Subtypes, and Diagnostics.

    Science.gov (United States)

    Lucieer, F; Vonk, P; Guinand, N; Stokroos, R; Kingma, H; van de Berg, Raymond

    2016-01-01

    To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH) and the value of diagnostic tools in the diagnostic process of BVH. A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised (1) imbalance and/or oscillopsia during locomotion and (2) summated slow phase velocity of nystagmus of less than 20°/s during bithermal caloric tests. The definite etiology of BVH was determined in 47% of the cases and the probable etiology in 22%. In 31%, the etiology of BVH remained idiopathic. BVH resulted from more than 20 different etiologies. In the idiopathic group, the percentage of migraine was significantly higher compared to the non-idiopathic group (50 versus 11%, p development of BVH. The distribution of etiologies of BVH probably depends on the clinical setting. In the diagnostic process of BVH, the routine use of some blood tests can be reconsidered and a low-threshold use of audiometry and cerebral imaging is advised. The torsion swing test is not the "gold standard" for diagnosing BVH due to its lack of sensitivity. Future diagnostic criteria of BVH should consist of standardized vestibular tests combined with a history that is congruent with the vestibular findings.

  20. Rifampin pharmacokinetics in children, with and without human immunodeficiency virus infection, hospitalized for the management of severe forms of tuberculosis

    Directory of Open Access Journals (Sweden)

    McIlleron Helen

    2009-04-01

    Full Text Available Abstract Background Rifampin is a key drug in antituberculosis chemotherapy because it rapidly kills the majority of bacilli in tuberculosis lesions, prevents relapse and thus enables 6-month short-course chemotherapy. Little is known about the pharmacokinetics of rifampin in children. The objective of this study was to evaluate the pharmacokinetics of rifampin in children with tuberculosis, both human immunodeficiency virus type-1-infected and human immunodeficiency virus-uninfected. Methods Fifty-four children, 21 human immunodeficiency virus-infected and 33 human immunodeficiency virus-uninfected, mean ages 3.73 and 4.05 years (P = 0.68, respectively, admitted to a tuberculosis hospital in Cape Town, South Africa with severe forms of tuberculosis were studied approximately 1 month and 4 months after commencing antituberculosis treatment. Blood specimens for analysis were drawn in the morning, 45 minutes, 1.5, 3.0, 4.0 and 6.0 hours after dosing. Rifampin concentrations were determined by liquid chromatography tandem mass spectrometry. For two sample comparisons of means, the Welch version of the t-test was used; associations between variables were examined by Pearson correlation and by multiple linear regression. Results The children received a mean rifampin dosage of 9.61 mg/kg (6.47 to 15.58 body weight at 1 month and 9.63 mg/kg (4.63 to 17.8 at 4 months after commencing treatment administered as part of a fixed-dose formulation designed for paediatric use. The mean rifampin area under the curve 0 to 6 hours after dosing was 14.9 and 18.1 μg/hour/ml (P = 0.25 1 month after starting treatment in human immunodeficiency virus-infected and human immunodeficiency virus-uninfected children, respectively, and 16.52 and 17.94 μg/hour/ml (P = 0.59 after 4 months of treatment. The mean calculated 2-hour rifampin concentrations in these human immunodeficiency virus-infected and human immunodeficiency virus-uninfected children were 3.9 and 4.8

  1. Etiological explanation, treatability and preventability of childhood autism: a survey of Nigerian healthcare workers' opinion

    Directory of Open Access Journals (Sweden)

    Okonkwo Kevin O

    2009-02-01

    Full Text Available Abstract Background Because of their peculiar sociocultural background, healthcare workers in sub-Saharan African subcultures may have various conceptions on different aspects of autism spectrum disorders (ASD, such as etiology, treatment and issues of prognosis. These various conceptions, if different from current knowledge in literature about ASD, may negatively influence help-seeking behavior of parents of children with ASD who seek advice and information from the healthcare workers. This study assessed the opinions of healthcare workers in Nigeria on aspects of etiology, treatability and preventability of childhood autism, and relates their opinions to the sociodemographic variables. Methods Healthcare workers working in four tertiary healthcare facilities located in the south-east and south-south regions of Nigeria were interviewed with a sociodemographic questionnaire, personal opinion on etiology, treatability and preventability of childhood autism (POETPCA questionnaire and knowledge about childhood autism among health workers (KCAHW questionnaire to assess their knowledge and opinions on various aspects of childhood autism. Results A total of 134 healthcare workers participated in the study. In all, 78 (58.2%, 19 (14.2% and 36 (26.9% of the healthcare workers were of the opinion that the etiology of childhood autism can be explained by natural, preternatural and supernatural causes, respectively. One (0.7% of the healthcare workers was unsure of the explanation of the etiology. Knowledge about childhood autism as measured by scores on the KCAHW questionnaire was the only factor significantly associated with the opinions of the healthcare workers on etiology of childhood autism. In all, 73 (54.5% and 43 (32.1%, of the healthcare workers subscribed to the opinion that childhood autism is treatable and preventable respectively. Previous involvement with managing children with ASD significantly influenced the opinion of the healthcare

  2. The Enduring Challenge of Determining Pneumonia Etiology in Children: Considerations for Future Research Priorities.

    Science.gov (United States)

    Feikin, Daniel R; Hammitt, Laura L; Murdoch, David R; O'Brien, Katherine L; Scott, J Anthony G

    2017-06-15

    Pneumonia kills more children each year worldwide than any other disease. Nonetheless, accurately determining the causes of childhood pneumonia has remained elusive. Over the past century, the focus of pneumonia etiology research has shifted from studies of lung aspirates and postmortem specimens intent on identifying pneumococcal disease to studies of multiple specimen types distant from the lung that are tested for multiple pathogens. Some major challenges facing modern pneumonia etiology studies include the use of nonspecific and variable case definitions, poor access to pathologic lung tissue and to specimens from fatal cases, poor diagnostic accuracy of assays (especially when testing nonpulmonary specimens), and the interpretation of results when multiple pathogens are detected in a given individual. The future of childhood pneumonia etiology research will likely require integrating data from complementary approaches, including applications of advanced molecular diagnostics and vaccine probe studies, as well as a renewed emphasis on lung aspirates from radiologically confirmed pneumonia and postmortem examinations. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  3. [The etiological, clinical and prognosis of diarrhea occurs during AIDS in to hospital in Bamako].

    Science.gov (United States)

    Dao, S; Oumar, A A; Doumbia, S; Goita, D; Boushab, M; Maiga, I I; Bougoudogo, F

    2007-01-01

    Its was a descriptive survey achieved in the service of the infectious and tropical illnesses of the teaching hospital of the "Point G" from 31 December 2002 to 30 June 2004 was about the analysis of 76 files. Its goal was to determine the clinical, etiological and prognostic aspects, of the diarrhea during the AIDS. The oral-pharyngeal candidiasis (50%), the deshydratation (60,5%), the fever (67,5%) and the thinning (77,6%) were associated to the diarrhoea frequently. Cholera syndrome was (52.6%), dysenteric syndrome was (36.8%) and the diarrhea syndrome was (10.5%). According to the etiological aspect, the parasites were founded in 51,3 % of cases, bacteria 9,2 % of cases, and fungus 5,3%. Any pathogen hasn't been founded in 34,2% of cases. Cyptosporidium parvum (15,8 %), and Isospora Belli (11,8%) was the most common parasites founded, but some unusual pathogens as: Entamoeba hystolitica, Trichomonas intestinalis , Giardia intestinalis , Shistosoma mansoni , Dicrococelium dendriticum, Trichostrongylus were present . The most common bacteria were Escherichia coli 5,3%. The fungus family was represented by Candida albicans . The lethality rate was 46,1%. The etiology of diarrhea occurs during aids is variable and include opportunistic and non opportunistic. The fatality rate remains incised because the delay of care and the poverty of the patients.

  4. Novel approaches to vaccination against the feline immunodeficiency virus.

    Science.gov (United States)

    Pistello, Mauro; Conti, Francesca; Vannucci, Laura; Freer, Giulia

    2010-03-15

    Inadequate antigen presentation and/or suboptimal immunogenicity are considered major causes in the failure of human immunodeficiency vaccine to adequately protect against wild-type virus. Several approaches have been attempted to circumvent these hurdles. Here we reviewed some recent vaccinal strategies tested against the feline immunodeficiency virus and focused on: (i) improving antigen presentation by taking advantage of the exquisite ability of dendritic cells to process and present immunogens to the immune system; (ii) boosting immune responses with vaccinal antigens presented in a truly native conformation by the natural target cells of infection. Significance of the studies, possible correlates of protection involved, and implications for developing anti-human immunodeficiency virus vaccines are discussed. Copyright 2009 Elsevier B.V. All rights reserved.

  5. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

    Science.gov (United States)

    Stoop, J W; Zegers, B J; Hendrickx, G F; van Heukelom, L H; Staal, G E; de Bree, P K; Wadman, S K; Ballieux, R E

    1977-03-24

    We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother. Purine nucleoside phosphorylase activity was not found in the patient's erythrocytes and lymphocytes (the parents and brother had intermediate values, indicating that the enzyme deficiency too was inherited as an autosomal recessive trait). Analysis of serum and urine from the patient and of serum from her two deceased sisters showed high levels of inosine and guanosine in addition to hypouricemia and hypouricosuria. The bone marrow was megaloblastic, and the blood hypochromic microcytic. The patient had spastic tetraparesis. Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency.

  6. Science and ethics of human immunodeficiency virus/acquired immunodeficiency syndrome controversies in Africa.

    Science.gov (United States)

    Brewster, David

    2011-09-01

    The human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) epidemic in Africa has raised important ethical issues for both researchers and clinicians. The most notorious controversy has been related to the zidovudine (AZT) trials in Africa in the late 1990s, in which the control groups were given a placebo rather than an effective drug to prevent vertical transmission. This raised concerns in the sponsoring country about exploitation of subjects, injustice and an ethical double standard between donor countries and resource-poor settings. However, the real double standard is between clinical practice standards in Western versus African countries, which must be addressed as part of the increasing global inequity of wealth both between countries and also within countries. There are important limitations to ethical declarations, principles and guidelines on their own without contextual ethical reasoning. The focus on research ethics with the HIV epidemic has led to a relative neglect of ethical issues in clinical practice. Although the scientific advances in HIV/AIDS have changed the ethical issues since the 1990s, there has also been progress in the bioethics of HIV/AIDS in terms of ethical review capability by local committees as well as in exposure to ethical issues by clinicians and researchers in Africa. However, serious concerns remain about the overregulation of research by bureaucratic agencies which could discourage African research on specifically African health issues. There is also a need for African academic institutions and researchers to progressively improve their research capacity with the assistance of research funders and donor agencies. © 2011 The Author. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  7. 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.

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

    Science.gov (United States)

    Jilkina, O; Thompson, J R; Kwan, L; Van Caeseele, P; Rockman-Greenberg, C; Schroeder, M L

    2014-01-01

    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.

  9. Acute renal failure in pediatric patients: Etiology and predictors of outcome

    Directory of Open Access Journals (Sweden)

    Ghani Amal

    2009-01-01

    Full Text Available Acute renal failure (ARF is the acute loss of kidney function over hours or days, the etiology of which varies in different countries. The data on the etiology and outcome of ARF in Arab children is limited. Our objective was to define the causes and predictors of outcome of ARF in Kuwaiti children, and the variables determining their fitness for dialysis. A total of 32 children with ARF were evaluated regarding their demographic and clinical data, the cause of ARF and the co-morbidities. Data were analyzed to find the independent variables determining fitness for dia-lysis and outcome. Males comprised 62.5% of the study children; 46.9% of ARF cases were due to sepsis and 56.2% underwent renal replacement therapy (RRT. Univariate analysis showed that age, hemodynamic instability, use of vasopressors, multi-organ failure (MOF, and mechanical venti-lation contributed to fitness for dialysis. However, MOF was the only independent variable affecting fitness for dialysis. The overall mortality was 43.8%. Univariate analysis showed that age below 24-months, hemodynamic instability, use of vasopressors, fluid overload, need for mecha-nical ventilation, MOF and late referral to the nephrologist were associated with poor outcome. However, multivariate analysis documented MOF, and the time of nephrologists′ intervention as independent prognostic indicators. Our study suggests that sepsis was the major cause of pediatric ARF. RRT is the optimal treatment, and the only factor determining child′s fitness for dialysis is MOF.

  10. Serodiagnosis of Helicobacter pylori infection in patients with human immunodeficiency virus infection

    DEFF Research Database (Denmark)

    Nielsen, H; Andersen, L P

    1995-01-01

    In contrast to the established role of Helicobacter pylori gastritis in gastritis and duodenal ulcer in general, conflicting results have been reported in patients with human immunodeficiency virus (HIV) infection and the acquired immunodeficiency syndrome. The seroprevalence during early HIV...

  11. Genetics Home Reference: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

    Science.gov (United States)

    ... alopecia, and nail dystrophy T-cell immunodeficiency, congenital alopecia, and nail dystrophy Printable PDF Open All Close ... expand/collapse boxes. Description T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe ...

  12. [Cerebral arterial aneurysm in a child with acquired immunodeficiency syndrome: case report].

    Science.gov (United States)

    Carvalho Neto Ad; Bruck, I; Coelho, L O; Cruz, C R; Liu, C B; Gomes, A F; Ogata, S A; Tahan, T T

    2001-06-01

    Cerebral aneurysmal arteriopathy of the circle of Willis is an uncommon manifestation of acquired human immunodeficiency virus (HIV) infection and up to now only 15 cases have been published in the literature. For this reason we add our experience of this rare case, and review the most important aspects related to this entity. The patient is a 6 year old male with perinatal transmitted AIDS, tetraparethic, developed symptoms characterized by episodes of dystonic postures. The computed tomography of the brain showed aneurismal arteriopathy of the circle of Willis. He had a previous normal examination. The review of the literature shows the pathological abnormalities of the affected vessels are mainly medial fibrosis, with destruction of the internal elastic lamina and intimal hyperplasia. The etiology for the vasculitis is unknown. Varicela zoster virus, as well as HIV by itself, can be related to the physiopathology of the vasculitis. On conclusion, it can be said that although uncommon, such complications are of great importance by the fact that the patients with vascular aneurismal arteriopathy are in high risk for vascular accidents, and once a diagnosis was made, death occurs in less than 6 months, according to the literature.

  13. The Great Impostor: Transaminitis Masking the Coinfection of Syphilis and Human Immunodeficiency Virus

    Directory of Open Access Journals (Sweden)

    Sunit Tolia

    2017-01-01

    Full Text Available Introduction. The incidence of syphilis continues to rise in the United States over the past 15 years. This disease process is classified into stages and may present with a coinfection of Human Immunodeficiency Virus (HIV. Case Report. We present a case of a 32-year-old African American male who presented with cutaneous manifestations of secondary syphilis and transaminitis. A workup revealed that the transaminitis was secondary to underlying syphilitic hepatitis in the presence of HIV coinfection. The patient had a reactive rapid plasma reagin (RPR of 1 : 64 TU and reactive Treponema pallidum particle agglutination assay (TPPA. Lab findings showed alkaline phosphate (ALP of 648 unit/L, aspartate aminotransferase (AST of 251 unit/L, and alanine aminotransferase (ALT of 409 unit/L. Conclusion. Syphilitic hepatitis is a recognized entity in the medical literature. It is a manifestation of secondary syphilis and it is more commonly seen in coinfected patients with both syphilis and HIV. Therefore, primary care physicians should keep infectious etiologies (e.g., syphilis and HIV in the differential diagnosis of patients who present with unexplained liver dysfunction in a cholestatic pattern.

  14. Salivary gland and nasopharyngeal cancers in individuals with acquired immunodeficiency syndrome in United States.

    Science.gov (United States)

    Shebl, Fatma M; Bhatia, Kishor; Engels, Eric A

    2010-05-15

    Individuals with acquired immunodeficiency syndrome (AIDS) manifest an increased risk of cancer, particularly cancers caused by oncogenic viruses. Because some salivary gland and nasopharyngeal cancers are associated with Epstein Barr virus, the impact of AIDS on these cancers needs further evaluation. We used linked U.S. AIDS and cancer registry data (N = 519,934 people with AIDS) to derive standardized incidence ratios (SIRs) comparing risk of salivary gland and nasopharyngeal cancers to the general population. For salivary gland cancers (N = 43 cases), individuals with AIDS had strongly elevated risks for lymphoepithelial carcinoma (SIR 39, 95% CI 16-81) and squamous cell carcinoma (SIR 4.9, 95% CI 2.5-8.6). Among nasopharyngeal cancers (N = 39 cases), risks were elevated for both keratinizing and nonkeratinizing carcinomas (SIR 2.4, 95% CI 1.5-3.7 and SIR 2.4, 95% CI 1.2-4.4, respectively). The elevated risks of salivary gland and nasopharyngeal cancers among people with AIDS suggest that immunosuppression and oncogenic viral infections are etiologically important.

  15. Replication of respiratory syncytial virus in lungs of immunodeficient mice

    Energy Technology Data Exchange (ETDEWEB)

    Wyde, P.R.; Sun, C.S.; Knight, V.

    1983-08-01

    Respiratory syncytial virus was frequently isolated during a 10-day test period from the lungs of 4- to 6-week-old immunodeficient nude (nu/nu) mice and from gamma-irradiated C3H mice inoculated intranasally with this virus, but not from similar aged and comparably inoculated normal littermates of these mice. Virus isolation rates and levels of virus in lungs in both groups of immunodeficient mice were similar. No extrapulmonary dissemination of virus was observed in any test group of mice.

  16. Separate worlds set to collide: smallpox, vaccinia virus vaccination, and human immunodeficiency virus and acquired immunodeficiency syndrome.

    Science.gov (United States)

    Amorosa, Valerianna K; Isaacs, Stuart N

    2003-08-01

    Concerns about the possible release of smallpox by bioterrorists has led to policies that recommend smallpox vaccination of some health care providers, and, in the near future, the vaccine may become available to the general population on a voluntary basis. Both smallpox virus (variola virus) and the smallpox vaccine (vaccinia virus) will have a significant impact on people infected with human immunodeficiency virus (HIV). Given that populations with acquired immunodeficiency syndrome and populations with immunosuppressed conditions due to solid organ and bone marrow transplantation were not present in the days when smallpox was prevalent, we will speculate on how smallpox might present in immunodeficient patients, and we will review the adverse events expected from the smallpox vaccine in hosts with HIV infection.

  17. Collaborating to improve quality of life in patients with primary immunodeficiencies: World Prrimary Immunodeficiency Week (WPIW 2013

    Directory of Open Access Journals (Sweden)

    Sorensen Ricardo

    2014-07-01

    Full Text Available World Primary Immunodeficiency Week (WPIW 2013, is celebrated annually on 22-29 April. This year WPIW focuses on the need to test, diagnose and treat this primary immunodeficiency to promote its early detection and appropriate care. This year’s reflexions focuses on various regions of the world. The authors have taken stock of the situation in their respective areas of the world: Europe, Latin America, North Africa and Middle East, as well as Australia. Through a cross country analysis, it reflects on progress made to date to improve the life of patients with primary immunodeficiency diseases (PIDs and the challenges that remain to address. In addition the authors address the need for continued international collaboration amongst all relevant actors to drive better access to early diagnosis and appropriate treatment and ultimately improve the life of patients with PIDs.

  18. THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION

    Science.gov (United States)

    Prasad, K.M.R.; Girimaji, S.R.; Manjunatha, K.R.; Khanna, Neelam; Rao, B.S.S.; Ravi, V.; Murthy, R. Srinivasa; Vani, K.R.

    1995-01-01

    Microcephaly with mental retardation forms a distinct subgroup among mentally retarded individuals. The paucity of studies on the etiology of this condition in India made the investigators to study this population. It HTO aimed to study the demographic and clinical characteristics, and the etiologic pattern in children with microcepltaly and mental retardation The sample consisted of 82 children who were examined by detailed clinical assessment and a battery of investigations. A definite etiology could be found in 56% of children which have been grouped into prenatal embryonic, prenatal maternal/environmental, and birth and neonatal causes. Non-genetic causes were the most common. The prenatal etiology constituted nearly twice that of birth and neonatal causes. Majority of the etiologic factors were preventable. The role of socio-environmental factors has been discussed As a group, the neurological disorders were found to be the most commonly associated medical condition. Malnutrition, specially of severe degree, was significantly associated with this group compared to the general population. The study findings indicate that there is a significant place for prevention. PMID:21743719

  19. Classification criteria of syndromes by latent variable models

    DEFF Research Database (Denmark)

    Petersen, Janne

    2010-01-01

    The thesis has two parts; one clinical part: studying the dimensions of human immunodeficiency virus associated lipodystrophy syndrome (HALS) by latent class models, and a more statistical part: investigating how to predict scores of latent variables so these can be used in subsequent regression...

  20. Socio-Demographic Variables Associated With Aids Epidemic ...

    African Journals Online (AJOL)

    Socio-Demographic Variables Associated With Aids Epidemic: Evidence From The Organization For Economic Cooperation And Development And The African Countries. ... The Human Immunodeficiency Virus (HIV) has been spreading rapidly worldwide for the past two decades, causing a variety of symptoms known as ...

  1. Haemophilus influenzae pneumonia in human immunodeficiency virus-infected patients. The Grupo Andaluz para el Estudio de las Enfermedades Infecciosas.

    Science.gov (United States)

    Cordero, E; Pachón, J; Rivero, A; Girón, J A; Gómez-Mateos, J; Merino, M D; Torres-Tortosa, M; González-Serrano, M; Aliaga, L; Collado, A; Hernández-Quero, J; Barrera, A; Nuño, E

    2000-03-01

    Although Haemophilus influenzae is a common etiologic agent of pneumonia in patients infected with human immunodeficiency virus (HIV), the characteristics of this pneumonia have not been adequately assessed. We have prospectively studied features of H. influenzae pneumonia in 26 consecutive HIV-infected inpatients. Most of these patients were severely immunosuppressed; 73.1% had a CD4+ cell count <100/microL. A subacute clinical presentation was observed in 27% of the patients and was associated with a higher degree of immunosuppression (P=.04). Bilateral lung infiltrates were noted radiographically in 57.7% of the cases. The mortality attributable to H. influenzae pneumonia was 11.5%. Thus, pneumonia caused by H. influenzae affects mainly patients with advanced HIV disease, and since its clinical and radiological features may be diverse, this etiology should be considered when pneumonia occurs in patients with advanced HIV infection. The mortality rate associated with H. influenzae pneumonia is not higher than that occurring in the general population.

  2. Conditional virus replication as an approach to a safe live attenuated human immunodeficiency virus vaccine

    NARCIS (Netherlands)

    Berkhout, Ben; Verhoef, Koen; Marzio, Giuseppe; Klaver, Bep; Vink, Monique; Zhou, Xue; Das, Atze T.

    2002-01-01

    Despite intensive efforts, no safe and effective vaccine has been developed for the prophylaxis of human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). Studies with the simian immunodeficiency virus (SIV)/macaque model demonstrated that live attenuated viruses are the most

  3. 76 FR 58517 - Public Health Service Guideline for Reducing Transmission of Human Immunodeficiency Virus (HIV...

    Science.gov (United States)

    2011-09-21

    ... Transmission of Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), and Hepatitis C Virus (HCV... Guideline for Reducing Transmission of Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), and... Reducing Transmission of Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV) and Hepatitis C Virus...

  4. 75 FR 51273 - Expanded Human Immunodeficiency Virus (HIV) Testing for Disproportionately Affected Populations

    Science.gov (United States)

    2010-08-19

    ... Announcement CDC-RFA-PS10-10138, ``Expanded Human Immunodeficiency Virus (HIV) Testing for Disproportionately... Assistance Number: 93.523 The Affordable Care Act: Human Immunodeficiency Virus (HIV) Prevention and Public... Number 93.523 The Affordable Care Act: Human Immunodeficiency Virus (HIV) Prevention and Public Health...

  5. 21 CFR 610.46 - Human immunodeficiency virus (HIV) “lookback” requirements.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 7 2010-04-01 2010-04-01 false Human immunodeficiency virus (HIV) âlookbackâ... Disease Agents § 610.46 Human immunodeficiency virus (HIV) “lookback” requirements. (a) If you are an... calendar days after a donor tests reactive for evidence of human immunodeficiency virus (HIV) infection...

  6. Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease

    Directory of Open Access Journals (Sweden)

    Suzanne Skoda-Smith

    2009-12-01

    Full Text Available Suzanne Skoda-Smith, Troy R Torgerson, Hans D OchsSeattle Children’s Research Institute and Department of Pediatrics, University of Washington, Seattle, WashingtonAbstract: Antibody deficiency is the most frequently encountered primary immunodeficiency disease (PIDD and patients who lack the ability to make functional immunoglobulin require life-long replacement therapy to prevent serious bacterial infections. Human serum immunoglobulin manufactured from pools of donated plasma can be administered intramuscularly, intravenously or subcutaneously. With the advent of well-tolerated preparations of intravenous immunoglobulin (IVIg in the 1980s, the suboptimal painful intramuscular route of administration is no longer used. However, some patients continued to experience unacceptable adverse reactions to the intravenous preparations, and for others, vascular access remained problematic. Subcutaneously administered immunoglobulin (SCIg provided an alternative delivery method to patients experiencing difficulties with IVIg. By 2006, immunoglobulin preparations designed exclusively for subcutaneous administration became available. They are therapeutically equivalent to intravenous preparations and offer patients the additional flexibility for the self-administration of their product at home. SCIg as replacement therapy for patients with primary antibody deficiencies is a safe and efficacious method to prevent serious bacterial infections, while maximizing patient satisfaction and improving quality of life.Keywords: subcutaneous immunoglobulin, primary immunodeficiency disease, antibody deficiency, X-linked agammaglobulinemia, common variable immune deficiency

  7. The European internet-based patient and research database for primary immunodeficiencies: results 2004–06

    Science.gov (United States)

    Eades-Perner, A-M; Gathmann, B; Knerr, V; Guzman, D; Veit, D; Kindle, G; Grimbacher, B

    2007-01-01

    Because primary immunodeficiencies (PID) are rare diseases, transnational studies are essential to maximize the scientific outcome and lead to improved diagnosis and therapy. Immunologists in Europe have united to determine the prevalence of PID in Europe and to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID as well as to improve the awareness of PID in Europe. In order to achieve this aim we have developed an internet-based database for clinical and research data on patients with PID. This database forms the platform for studies of demographics, the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. The database is completely secure, while providing access to researchers via a standard browser using password and encrypted log-in sessions and conforms to all European and national ethics and data protection guidelines. So far 2386 patients have been documented by 35 documenting centres in 20 countries. Common variable immunodeficiency (CVID) is the most common entity, accounting for almost 30% of all entries. First statistical analyses on the quality of life of patients show the advantages of immunoglobulin replacement therapy, at the same time revealing a mean diagnostic delay of over 4 years. First studies on specific questions on selected PID are now under way. The platform of this database can be used for any type of medical condition. PMID:17223972

  8. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.

    Science.gov (United States)

    Eades-Perner, A-M; Gathmann, B; Knerr, V; Guzman, D; Veit, D; Kindle, G; Grimbacher, B

    2007-02-01

    Because primary immunodeficiencies (PID) are rare diseases, transnational studies are essential to maximize the scientific outcome and lead to improved diagnosis and therapy. Immunologists in Europe have united to determine the prevalence of PID in Europe and to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID as well as to improve the awareness of PID in Europe. In order to achieve this aim we have developed an internet-based database for clinical and research data on patients with PID. This database forms the platform for studies of demographics, the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. The database is completely secure, while providing access to researchers via a standard browser using password and encrypted log-in sessions and conforms to all European and national ethics and data protection guidelines. So far 2386 patients have been documented by 35 documenting centres in 20 countries. Common variable immunodeficiency (CVID) is the most common entity, accounting for almost 30% of all entries. First statistical analyses on the quality of life of patients show the advantages of immunoglobulin replacement therapy, at the same time revealing a mean diagnostic delay of over 4 years. First studies on specific questions on selected PID are now under way. The platform of this database can be used for any type of medical condition.

  9. Consequence etiology and biological teleology in Aristotle and Darwin.

    Science.gov (United States)

    Depew, David J

    2008-12-01

    Aristotle's biological teleology is rooted in an epigenetic account of reproduction. As such, it is best interpreted by consequence etiology. I support this claim by citing the capacity of consequence etiology's key distinctions to explain Aristotle's opposition to Empedocles. There are implications for the relation between ancient and modern biology. The analysis reveals that in an important respect Darwin's account of adaptation is closer to Aristotle's than to Empedocles's. They both rely on consequence etiological considerations to evade attributing the purposiveness of organisms to chance. Two implications follow: (l) Darwinian explanations of adaptation are as teleological as Aristotle's, albeit differently; and (2) these differences show how deeply resistant Aristotle's version of biological teleology is to descent from a common ancestor.

  10. The etiology of vocal fold nodules in adults.

    Science.gov (United States)

    Karkos, Petros D; McCormick, Maxwell

    2009-12-01

    To review the recent literature on the etiology and pathophysiology of vocal fold nodules in adults. Research regarding the etiology of vocal nodules over the past 2 years supports previous thinking regarding the central role of voice misuse, overuse, and phonatory trauma. Advanced modeling techniques have helped elucidate mechanisms by which this may occur such as vibration-induced rise in capillary pressures and varying fluid dynamics in the layered vocal fold structure. Contributory roles of personality traits, reflux, and allergy have also been hypothesized. Current research supports long-held beliefs that phonatory trauma is a central cause of vocal fold nodule formation. Innovative basic science research has unraveled mechanisms of traumatic damage and clinical research continues to identify crucial lifestyle behavior and contributing comorbid conditions that play a role in the pathogenesis of vocal fold nodules. The multifactorial etiology of vocal fold nodules requires a comprehensive history to identify contributing factors and a multidisciplinary approach to optimize treatment outcome.

  11. Etiology of Sarcoidosis: Does Infection Play a Role?

    Science.gov (United States)

    Saidha, Shiv; Sotirchos, Elias S.; Eckstein, Christopher

    2012-01-01

    Sarcoidosis is a granulomatous inflammatory disorder of unclear etiology, which is known to affect multiple organ systems including the lungs, heart, skin, central nervous system, and eyes, among others. For this reason, sarcoidosis represents a systemic medical disorder that is clinically relevant to multiple medical sub-specialties. Despite extensive research, the etiology of sarcoidosis has yet to be elucidated, although most evidence supports that the pathogenetic mechanism of sarcoidosis is an aberrant immune response, driven by an unidentified antigen (or antigens) in genetically susceptible individuals. Multiple candidate etiologic agents, including microbial organisms and environmental agents, have been investigated, but study results are inconclusive. In this review, we describe the known histologic and immunologic features of sarcoidosis and discuss the evidence supporting a role for infectious processes in the pathogenesis of sarcoidosis. PMID:22461752

  12. [Ventricular tachyarrhythmias. A retrospective analysis of etiology, demography and treatment

    DEFF Research Database (Denmark)

    Christensen, A.H.; Henningsen, K.; Svendsen, Jesper Hastrup

    2008-01-01

    INTRODUCTION: The aim of this study was to investigate the age, sex, etiology, frequency of implantable cardioverter-defibrillator (ICD) and previous cardiac arrest among patients discharged from the Department of Cardiology, Rigshospitalet (Copenhagen University Hospital), Denmark, due to ventri......INTRODUCTION: The aim of this study was to investigate the age, sex, etiology, frequency of implantable cardioverter-defibrillator (ICD) and previous cardiac arrest among patients discharged from the Department of Cardiology, Rigshospitalet (Copenhagen University Hospital), Denmark, due...... unknown etiology; 492 (50%) of the patients overall had an ICD implanted, the majority of whom had been categorized as having ventricular tachycardia (92%); 168 patients had previous cardiac arrest, 127 of whom did not have a potential reversible cause. Of this group 75 (59%) had an ICD implanted...

  13. Ethnopharmacology of human immunodeficiency virus in South ...

    African Journals Online (AJOL)

    Administrator

    2006-10-02

    Oct 2, 2006 ... and structural resources. One characteristic feature of HIV is the high degree of variability of its genome ... based on the structure, catalytic properties of its enzymes, and surface receptors, alternative .... signals is required for the transportation of the synthesized viral double stranded DNA to the nucleus ...

  14. Etiology of molar incisor hypomineralization - A systematic review.

    Science.gov (United States)

    Silva, Mihiri J; Scurrah, Katrina J; Craig, Jeffrey M; Manton, David J; Kilpatrick, Nicky

    2016-08-01

    Molar incisor hypomineralization (MIH) is a common developmental dental defect of permanent teeth, which can increase the risk of dental caries, infection and hospitalization. The etiology is currently unclear although prenatal or early childhood health factors are suspected. The aim of this systematic review was to assess the strength of evidence linking etiological factors with MIH. A systematic search was conducted using the Medline and Embase electronic databases for studies investigating environmental etiological factors of MIH. Two reviewers assessed the eligibility of studies. The level of evidence and bias was determined for all eligible studies according to Australian National Health and Medical Research Council guidelines for systematic reviews of etiology and the Newcastle-Ottawa Scale. From a total of 2254 studies identified through electronic and hand searching, 28 were eligible for inclusion. Twenty-five of these investigated MIH and three investigated a related condition in primary teeth, hypomineralized second primary molars (HSPM), and these were analysed separately. A limited number of studies reported significant associations between MIH and pre- and perinatal factors such as maternal illness and medication use in pregnancy, prematurity and birth complications. Early childhood illness was implicated as an etiological factor in MIH in several studies, in particular fever, asthma and pneumonia. The studies investigating HSPM revealed an association with maternal alcohol consumption, infantile fever and ethnicity. However, the validity of these findings is impaired by study design, lack of adjustment for confounders, lack of detail and consistency of exposures investigated and poor reporting. Childhood illness is likely to be associated with MIH. Further prospective studies of the etiology of MIH/HSPM are needed. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Extrahepatic portal biliopathy: proposed etiology on the basis of anatomic and clinical features.

    Science.gov (United States)

    Walser, Eric M; Runyan, Brandon R; Heckman, Michael G; Bridges, Mellena D; Willingham, Darrin L; Paz-Fumagalli, Ricardo; Nguyen, Justin H

    2011-01-01

    To compare the anatomic and clinical features in patients with chronic portal vein thrombosis (PVT) to determine why some patients develop portal biliopathy (PB) while most do not and propose an etiology for PB. This project satisfied HIPAA regulations and received institutional review board approval for a retrospective review without the need for consent. From 100 patients with PVT, 60 were extracted who had chronic, nonmalignant PVT, after exclusion of those with sclerosing cholangitis, liver transplants, choledocholithiasis, or portosystemic shunts. Clinical and imaging data from 19 patients with biliary dilatation (PB group) were compared with data from 41 patients without biliary dilatation (no-PB group). Statistical analysis was performed with the Fisher exact test for categorical variables or the Wilcoxon rank-sum test for numerical and ordered categorical variables. P values of .05 or less were considered to indicate a significant difference. The etiology of PVT differed between the groups (P < .001); cirrhosis was infrequently seen in the PB group (two of 19, 11%) but was common in the no-PB group (31 of 41, 76%). Only two of 33 (6%) patients with cirrhosis and PVT had PB. Extension of PVT into the mesenteric veins was significantly more common in the PB group (18 of 19, 95%) than in the no-PB group (one of 41, 2%) (P < .001). Compared with the no-PB group, patients in the PB group had more acute angulation of the bile duct (median, 110° vs 128°; P = .008), less frequent gastroesophageal varices (three of 19 [16%] vs 20 of 41 [49%], P = .021), and a smaller mean coronary vein diameter (median, 5 vs 6 mm; P = .014). Noncirrhotic patients with hypercoagulable states tend to develop PB when PVT extends to the splenomesenteric veins. A possible etiology is the formation of specific peribiliary venous pathways responsible for bile duct compression and tethering. © RSNA, 2010.

  16. Vaccination against feline immunodeficiency virus using fixed infected cells

    NARCIS (Netherlands)

    Horzinek, M.C.; Verschoor, E.J.; Vliet, A.L.W. van; Egberink, H.F.; Hesselink, W.; Alphen, W.E. van; Joosten, I.; Boog, C.J.P.; Ronde, A. de

    1995-01-01

    Crandell feline kidney cells and feline thymocytes, either feline immunodeficiency virus (FIV) infected or uninfected, were fixed with paraformaldehyde and used to vaccinate cats. The cells were mixed with a 30:70 water/mineral oil emulsion containing 250 mu g ml−1 N-acetyl-d-glucosaminyl-beta-(1

  17. Hepatitis B Virus, Hepatitis C Virus and Human Immunodeficiency ...

    African Journals Online (AJOL)

    Background: The epidemiology of viral hepatitis and Human immunodeficiency virus (HIV) during pregnancy is of great importance for health planners and program managers. However, few published data on viral hepatitis and HIV are available in Sudan especially during pregnancy. Objectives: The current study was ...

  18. Sero-prevalence of Human Immunodeficiency Virus (HIV) and ...

    African Journals Online (AJOL)

    Three hundred and seven (307) healthy blood donors aged 18 – 55 years were used to determine the sero-prevalence of Human Immunodeficiency Virus (HIV) and Hepatitis B virus (HBV) in Yola, Nigeria. The association between donors' age, occupation and marital status and the prevalence of the infections among blood ...

  19. Declining Rate of Infection with Maternal Human Immunodeficiency ...

    African Journals Online (AJOL)

    Declining Rate of Infection with Maternal Human Immunodeficiency Virus at Delivery Units in North-Central Nigeria. GE Imade, AS Sagay, J Musa, AN Ocheke, DS Adeniyi, M Idighri, R Powl, A Sendeht, JP Ogwuche, M Elujoba, CO Egbodo, T Oyebode, PH Daru, O Agbaji, IC Pam, ST Meloni, P Okonkwo, PJ Kanki ...

  20. Immunophenotyping of lymphocytes in healthy and immunodeficient children

    NARCIS (Netherlands)

    E. de Vries (Esther)

    1999-01-01

    textabstractThis thesis describes the use of immunophenotyping of lymphocytes in healthy as well as immunodeficient children. Part I describes the applied techniques (Chapters 2 and 3). The experimental work in healthy children is described in Part II (Chapters 4-7) and Part III describes the

  1. Hepatitis B, C and Human Immunodeficiency Virus (HIV) Co ...

    African Journals Online (AJOL)

    Background: Nigeria which has one of the world's highest burden of children living with Sickle cell anaemia is also endemic for hepatitis B, C and the Human immunodeficiency virus (HIV). This study set out to determine the prevalence of Hepatitis B surface antigen (HBsAg), antibodies to Hepatitis C Virus (HCV) and Human ...

  2. Human immunodeficiency virus, hepatitis B virus and syphilis ...

    African Journals Online (AJOL)

    Human immunodeficiency virus, hepatitis B virus and syphilis infections among long-distance truck ... Journal Home > Vol 10, No 1 (2016) > ... The PDF file you selected should load here if your Web browser has a PDF reader plug-in installed ...

  3. Hepatitis C Virus and Human Immunodeficiency Virus Co-Infection ...

    African Journals Online (AJOL)

    Background: Hepatitis C virus (HCV) and human immunodeficiency virus (HIV) infections are major health problems worldwide. HCV/HIV co-infection has been shown to increase the frequency of liver disease and also maternal-fetal transmission of HCV. Little data exist on the prevalence of co-infection of these viruses in ...

  4. Awareness and knowledge of human immunodeficiency virus post ...

    African Journals Online (AJOL)

    Awareness and knowledge of human immunodeficiency virus post exposure prophylaxis among Nigerian Family Physicians. ... Conclusion: This study shows that despite high levels of awareness and knowledge of HIV PEP, access to its use among family physicians in Nigeria is still sub‑optimal. Keywords: Family ...

  5. 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 ...

  6. Human immunodeficiency virus (HIV) seropositivity and hepatitis B ...

    African Journals Online (AJOL)

    Method: A total of 130 donors comprising 120 commercial donors and 10 voluntary donors were tested for antibodies to human immunodeficiency virus and hepatitis B surface antigen in Benin city using Immunocomb HIV - 1 and 2 Biospot kit and Quimica Clinica Aplicada direct latex agglutination method respectively.

  7. C- Reactive Protein in Tuberculosis and Human Immunodeficiency ...

    African Journals Online (AJOL)

    This study was conducted to evaluate C-reactive protein (CRP) levels in Mycobacterium tuberculosis and human immunodeficiency virus (HIV) infections and the follow-up therapeutic response to tuberculosis (TB) among patients aged 19-68 years attending out-patient clinics of two hospitals in Abeokuta, Southwestern ...

  8. Early infant male circumcision for human immunodeficiency virus ...

    African Journals Online (AJOL)

    Abstract. Swaziland has the highest prevalence of human immunodeficiency virus (HIV) in the world at 26% of the adult population. ... Acceptability of medical circumcision was high in this study, but concerns about safety, pain, autonomy and cultural factors reduce the acceptability of infant circumcision more specifically.

  9. Prevalence of human immunodeficiency virus (HIV) infection among ...

    African Journals Online (AJOL)

    Prevalence of human immunodeficiency virus (HIV) infection among pregnant women in an antenatal clinic in Port-Harcourt, Nigeria. ... 6, No 3 (2007) >. Log in or Register to get access to full text downloads. ... A total of 10,032 pregnant women were screened for the possible occurrence of HIV 1 and HIV 2 within the period.

  10. prevalence of hepatitis a, b, c and human immunodeficiency virus ...

    African Journals Online (AJOL)

    hi-tech

    2004-04-01

    Apr 1, 2004 ... PREVALENCE OF HEPATITIS A, B, C AND HUMAN IMMUNODEFICIENCY VIRUS SEROPOSITIVITY AMONG PATIENTS WITH ACUTE ICTERIC .... computer software. The 95% confidence level was used to assess statistical significance. The Pearson chi-square test was utilised in assesing statistical ...

  11. Disparities in the Magnitude of Human Immunodeficiency Virus ...

    African Journals Online (AJOL)

    Disparities in the Magnitude of Human Immunodeficiency Virus-related Opportunistic Infections Between High and Low/Middle-income Countries: Is Highly Active Antiretroviral Therapy Changing the ... Alternatively, you can download the PDF file directly to your computer, from where it can be opened using a PDF reader.

  12. Awareness of Human Immunodeficiency Virus (HIV) infection among ...

    African Journals Online (AJOL)

    Objective: To determine the level of awareness of Human Immunodeficiency Virus (HIV) infection among antenatal clients in Nnewi Nigeria. Subjects and Methods: A cross sectional descriptive study of six hundred consecutive antenatal clients attending the Nnamdi Azikiwe University Teaching Hospital and five private ...

  13. 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 ...

  14. Prevalence of human immunodeficiency virus, hepatitis C virus ...

    African Journals Online (AJOL)

    Background. Human immunodeficiency virus (HIV), hepatitis B virus (HBV), hepatitis C virus (HCV) and syphilis remain major infections around the world. In Angola, about 166 000 individuals are living with HIV, representing a prevalence of 1.98% in adults between 15 and 49 years of age. In a 2003 study in Luanda, 4.5% ...

  15. Prevalence of Oro-Facial Lesions in Human Immunodeficiency Virus ...

    African Journals Online (AJOL)

    Conclusion: Oro-facial lesions are among the earliest clinical manifestations of HIV infection. These were commonly observed in HIV infected Nigerian women. Oral candidiasis the most common oral lesion observed in the series may therefore be used as a clinical indicator of early immunodeficiency associated with HIV.

  16. 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.

  17. Sero-prevalence of Human Immunodeficiency Virus and hepatitis ...

    African Journals Online (AJOL)

    Sero-prevalence of Human Immunodeficiency Virus and hepatitis viruses and their correlation with CD4 T-cell lymphocyte counts in pregnant women in the Buea Health District of Cameroon. ... Prior to this study, very few studies in Cameroon have addressed co-infection of HIV and hepatitis in pregnancy. The aim of this ...

  18. Primary Immunodeficiency Diseases and Hematopoietic Stem Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Ayse Ozkan

    2014-02-01

    Full Text Available Hematopoietic stem cell transplantation (HSCT is the only curative therapy for primary immunodeficiency diseases. Early diagnosis, including prenatally, and early transplantation improve HSCT outcomes. Survival rates improve with advances in the methods of preparing hosts and donor cells, and in supportive and conditioning regimes.

  19. Herpes Simplex Virus Type-2 and Human Immunodeficiency Virus ...

    African Journals Online (AJOL)

    Objectives: To estimate the seroprevalence of Herpes Simplex Type 2 (HSV-2) and its association with Human Immunodeficiency Virus type 1 (HIV-1) infections in rural Kilimanjaro Tanzania. Methods: A cross-sectional survey was conducted in Oria village from March to June 2005 involving all individuals aged 15-44 years ...

  20. Human immunodeficiency virus infection and child sexual abuse

    African Journals Online (AJOL)

    Human immunodeficiency virus infection and child sexual abuse. Hendrik Simon Schaaf. Child sexual abuse (CSA) has not previously been regarded as important in the overall transmission of HIV infection to. childrenY However, with both CSA'·' and HIV infection on the increase, the risk of acquiring HIV infection through ...

  1. Prevalence of Anaemia Among Human Immunodeficiency Virus (HIV)

    African Journals Online (AJOL)

    Background: Anaemia is the most commonly encountered haematological abnormality in human immunodeficiency virus (HIV) positive patients with estimates climbing as high as 95% depending on clinical settings. The twin effects of HIV infection and anaemia in pregnancy is associated with adverse maternal and ...

  2. Hepatitis B, C and Human Immunodeficiency Virus (HIV) Co ...

    African Journals Online (AJOL)

    TNHJOURNALPH

    Hepatitis B, C and Human Immunodeficiency Virus (HIV). Co-infection in Nigerian Children with Sickle Cell Anaemia. Type of Article:CSWI. 1Lucy Eberechukwu Yaguo Ide, 2Seye Babatunde. Departments of 1Paediatrics And Child ... of haemolytic anemia and one of the most common in our society.1 It is a major cause of.

  3. Septicaemia associated with an Aerococcus viridans infection in immunodeficient mice

    DEFF Research Database (Denmark)

    Dagnæs-Hansen, Frederik; Kilian, Mogens; Fuursted, Kurt

    2004-01-01

    This report describes a case series of septicaemia caused by infection with Aerococcus viridans in immunodeficient NOD/LtSz-Prkdc(scid) (NOD/SCID) mice. During a period of 3 weeks more than 40 animals died or became ill with clinical signs of ruffled coat, weight loss, laboured breeding...

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  5. Study on etiological factors on mental retardation in Kathmandu.

    Science.gov (United States)

    Chakrabarti, Kajal; Aryal, Umesh

    2003-06-01

    The study of etiological factors on mental retardation was conducted at family counselling and resource school of Association of Welfare of Menta+lly Retarded (AWMR), Hattisar, Kathmandu. A total of 91 mental retarded cases were studied in the year 2000 and 2001 for etiological factors. The present study shows significant relationship of mental retardation and age in both the year. The higher rate of mental retardation in the 0 to 5 years age group in both the year. About 70.0% with mental retardation (MR) are first born babies in both the year. Majority of the families have unfavourable attitude towards the mentally retarded individual.

  6. Bilateral vestibular hypofunction: Insights in etiologies, clinical subtypes and diagnostics

    Directory of Open Access Journals (Sweden)

    F. eLucieer

    2016-03-01

    Full Text Available Objective:To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH and the value of diagnostic tools in the diagnostic process of BVH.Materials and methods: A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised 1 imbalance and/or oscillopsia during locomotion, and 2 summated slow phase velocity of nystagmus of less than 20 degrees per second during bithermal caloric tests.Results:The definite etiology of BVH was determined in 47% of the cases and the probable etiology in 22%. In 31%, the etiology of BVH remained idiopathic. BVH resulted from more than 20 different etiologies. In the idiopathic group, the percentage of migraine was significantly higher compared to the non-idiopathic group (50% versus 11%, p<0.001. Among all patients, 23.4% were known with autoimmune disorders in their medical history. All 4 clinical subtypes (recurrent vertigo with BVH, rapidly progressive BVH, slowly progressive BVH and slowly progressive BVH with ataxia were found in this population. Slowly progressive BVH with ataxia comprised only 4.5% of the cases. The head impulse test was abnormal in 94% of the cases. The torsion swing test was abnormal in 66%. Bilateral normal hearing to moderate hearing loss was found in 49%. Blood tests did not often contribute to the determination of the etiology of the disease. Abnormal cerebral imaging was found in 21 patients.Conclusion:BVH is a heterogeneous condition with various etiologies and clinical characteristics. Migraine seems to play a significant role in idiopathic BVH and auto-immunity could be a modulating factor in the development of BVH. The distribution of etiologies of BVH probably depends on the clinical setting. In the diagnostic process of BVH, the routine use of some blood tests can be reconsidered and a low-threshold use of audiometry and cerebral imaging is

  7. Lepra: various etiologies from miasma to bacteriology and genetics.

    Science.gov (United States)

    Grzybowski, Andrzej; Sak, Jarosław; Suchodolska, Elżbieta; Virmond, Marcos

    2015-01-01

    Leprosy is a chronic infectious disease caused by a close relative of Mycobacterium tuberculosis: Mycobacterium leprae. There have been various beliefs in its etiology with two main concepts emerging: anticontagion and contagion. From ancient times through the early Middle Ages, the miasmatic theory of leprosy was the main anticontagion view. The development of histopathologic and cytologic studies in the second half of the 19th century provided a starting point to explain the etiology of leprosy bacteriologically. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Recurrent spontaneous miscarriage: controversies in etiology and pathogenesis

    Directory of Open Access Journals (Sweden)

    O. S. Kryvopustov

    2016-01-01

    Full Text Available Aim. We have studied and analyzed the available scientific sources over the past five years in order to systematize the available literature of recent years about research regarding recurrent spontaneous miscarriage. Methods. During this studying we used methods of observation, systematization and content analysis. Results. Modern views on etiology and pathogenesis of recurrent spontaneous miscarriage, in particular were presented in the article. Attention is focused on risk factors such as genetic disorders, anatomical abnormalities, endocrine pathology, infectious agents, autoimmune and immune disorders. Conclusions. Our research iindicated role of progesterone and highlighted importance of genetic polymorphisms in the etiology and pathogenesis of recurrent spontaneous miscarriage.

  9. Efficacy of human immunodeficiency virus prevention interventions among men who have sex with men in China: a meta-analysis.

    Science.gov (United States)

    Zheng, Lijun; Zheng, Yong

    2012-11-01

    This study aimed to determine the efficacy of HIV prevention interventions among men who have sex with men (MSM) in China. Human immunodeficiency virus (HIV) knowledge, HIV testing, condom use, sexual risk activity, incidence of sexually transmitted diseases, and HIV incidence were used as outcomes. Meta-analytic techniques were used to compute and aggregate effect sizes for 22 studies, published between 2004 and 2011, which met inclusion criteria. Variables with the potential to moderate intervention efficacy were also tested. The overall mean weighted effect size was d = 0.627 (95% confidence interval [CI], 0.460-0.793; Z = 7.38; P women and for number of sexual partners. Interventions for condom use conducted in Southwest China (the region in China with the highest prevalence of HIV) were significantly less efficacious. Interventions for condom use were significantly more efficacious when the respondent-driven sampling recruitment method and popular opinion leader intervention strategy were used. Human immunodeficiency virus prevention interventions were efficacious among MSM in China. Additional efforts are needed to control the growing HIV/acquired immunodeficiency syndrome infection among MSM in China. Future interventions need to use more rigorous intervention methodologies (e.g., respondent-driven sampling method, and popular opinion leader intervention strategy).

  10. Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry

    Directory of Open Access Journals (Sweden)

    Grace Macklin

    2017-09-01

    Full Text Available Individuals with primary immunodeficiency disorder may excrete poliovirus for extended periods and will constitute the only remaining reservoir of virus after eradication and withdrawal of oral poliovirus vaccine. Here, we analyzed the epidemiology of prolonged and chronic immunodeficiency-related vaccine-derived poliovirus cases in a registry maintained by the World Health Organization, to identify risk factors and determine the length of excretion. Between 1962 and 2016, there were 101 cases, with 94/101 (93% prolonged excretors and 7/101 (7% chronic excretors. We documented an increase in incidence in recent decades, with a shift toward middle-income countries, and a predominance of poliovirus type 2 in 73/101 (72% cases. The median length of excretion was 1.3 years (95% confidence interval: 1.0, 1.4 and 90% of individuals stopped excreting after 3.7 years. Common variable immunodeficiency syndrome and residence in high-income countries were risk factors for long-term excretion. The changing epidemiology of cases, manifested by the greater incidence in recent decades and a shift to from high- to middle-income countries, highlights the expanding risk of poliovirus transmission after oral poliovirus vaccine cessation. To better quantify and reduce this risk, more sensitive surveillance and effective antiviral therapies are needed.

  11. 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

  12. Importance of purine and pyrimidine content of local nucleotide sequences (six bases long) for evolution of the human immunodeficiency virus type 1.

    Science.gov (United States)

    Doi, H

    1991-10-15

    Human immunodeficiency virus type 1 evolves rapidly, and random base change is thought to act as a major factor in this evolution. However, segments of the viral genome differ in their variability: there is the highly variable env gene, particularly hypervariable regions located within env, and, in contrast, the conservative gag and pol genes. Computer analysis of the nucleotide sequences of human immunodeficiency virus type 1 isolates reveals that base substitution in this virus is nonrandom and affected by local nucleotide sequences. Certain local sequences 6 base pairs long are excessively frequent in the hypervariable regions. These sequences exhibit base-substitution hotspots at specific positions in their 6 bases. The hotspots tend to be nonsilent letters of codons in the hypervariable regions--thus leading to marked amino acid substitutions there. Conversely, in the conservative gag and pol genes the hotspots tend to be silent letters because of a difference in codon frame from the hypervariable regions. Furthermore, base substitutions in the local sequences that frequently appear in the conservative genes occurred at a low level, even within the variable env. Thus, despite the high variability of this virus, the conservative genes and their products could be conserved. These may be some of the strategies evolved in human immunodeficiency virus type 1 to allow for positive-selection pressures, such as the host immune system, and negative-selection pressures on the conservative gene products.

  13. etiology and pathogenesis of anterior open bite: a review

    African Journals Online (AJOL)

    2010-11-11

    Nov 11, 2010 ... population (3-5). Children with this condition suffer from among others psychosocial and functional problems. This article reviews the etiology and ..... Class. III Malocclusion with Posterior Crossbite and Anterior. Open Bite Treated with Extraction. Expansion and. Habit Control!: A Case Report and Review of ...

  14. Epilepsy In Nigeria – A Review Of Etiology, Epidemiology And ...

    African Journals Online (AJOL)

    Epilepsy is a major public health issue especially in developing African countries. The etiologies and approach to management are significantly different in developed and developing countries, with infectious causes and treatment with phenobarbitone being the peculiarities of the developing sub-Saharan African countries.

  15. Etiology, prevalence, and treatment of dry eye disease

    Directory of Open Access Journals (Sweden)

    Johnny L Gayton

    2009-07-01

    Full Text Available Johnny L GaytonEyesight Associates, Warner Robins, GA, USAPurpose: This review article examines the prevalence, etiology, and current therapies of dry eye disease, with special focus on postmenopausal women.Method: A systematic literature search utilizing MEDLINE was conducted to identify peer-reviewed articles related to dry eye published prior to September 2008. The terms “dry eye” and “women” were searched in combination with one or more of the following words or phrases: prevalence, postmenopausal, etiology, risk factors, therapy, medications, surgery, tear film, and quality of life. Articles were selected based on their direct applicability to the subject matter. A manual search was also conducted based on citations in the published literature.Results: Epidemiologic studies identified prevalence rates ranging from 7% in the United States to 33% in Taiwan and Japan. Risk factors include advanced age, female sex, smoking, extreme heat or cold weather conditions, low relative humidity, use of video display terminals, refractive surgery, contact lens wear, and certain medications.Conclusion: The last decade has brought about a better understanding of the etiology of dry eye disease. New therapies that can alleviate the signs and symptoms of dry eye disease and, consequently, improve the quality of life of dry eye patients are available in the market.Keywords: dry eye disease, etiology, prevalence, postmenopausal women

  16. Seeking Professional Help: Etiology Beliefs about Mental Illness across Cultures

    Science.gov (United States)

    Chen, Sylvia Xiaohua; Mak, Winnie W. S.

    2008-01-01

    In the present study, the authors examined the contributions of cultural beliefs about the etiology of mental illness to the seeking of help from mental health professionals among college students in 4 cultural groups, European Americans, Chinese Americans, Hong Kong Chinese, and Mainland Chinese. Group differences were found in help-seeking…

  17. [Pancoast and Tobias syndrome of benign etiology (author's transl)].

    Science.gov (United States)

    Aubert, M; Perdrix, A; Bouchet, C; Paramelle, B; Latreille, R; Barrie, J

    1980-01-01

    The authors report a case of Pancoast and Tobias syndrome due to a hydatic cyst on the apex of the left lung. This parasitosis is together with tuberculosis and least infrequent benign etiology of Pancoast and Tobias syndrome. In our observation it was a young cyst without complications as opposed to previously reported cases.

  18. [A rare and benign etiology of Pancoast-Tobias syndrome].

    Science.gov (United States)

    Souabny, A; Trombati, N; Afif, H; Aichane, A; Aammal, K; Ridai, M; Bahlaoui, A; Bouayad, Z

    2003-06-01

    Although lung cancer is the leading cause of Pancoast-Tobias syndrome, benign etiologies have been rarely described in the literature. We report two cases of Pancoast-Tobias syndrome caused by hydatidosis of the apex. Outcome was favorable after surgical treatment.

  19. Anemia in chronic heart failure : etiology and treatment options

    NARCIS (Netherlands)

    Westenbrink, B. Daan; de Boer, Rudolf A.; Voors, Adriaan A.; van Gilst, Wiek H.; van Veldhuisen, Dirk J.

    Purpose of review Anemia is common in patients with chronic heart failure, and is related to increased morbidity and mortality. The etiology of anemia in heart failure is complex and still not fully resolved. The review will describe current advances in the understanding of the pathophysiology of

  20. Burden, etiology and predictors of visual impairment among children ...

    African Journals Online (AJOL)

    2017-09-03

    Sep 3, 2017 ... Abstract. Background: Childhood visual impairment (CVI) has not been given due attention. Knowledge of CVI is important in plan- ning preventive measures. The aim of this study was determine the prevalence, etiology and the factors associated with child- hood visual impairment among the children ...

  1. Etiological Attributions Of Alms-Begging Among People With Special ...

    African Journals Online (AJOL)

    Many people opine that the society, religious persuasions, the government and beggars themselves are causal agents of begging behaviour among people with special needs. Therefore, this study aimed at investigating differential etiological attributions of alms-begging among people with special needs in Oyo State, ...

  2. Etiologies of unilateral exophthalmia in children at University ...

    African Journals Online (AJOL)

    Traumatic orbital haematoma (50%), retinoblastoma (22.91%) and orbital cellulitis (20.83%) were the main etiologies. Metastases (6/18) and ophthalmoplegia (4/18) were the major complications. The overall mortality rate was 20.83%, with a share of retinoblastomarelated mortality at 80%. Conclusion: Early diagnosis of ...

  3. Etiology and electroclinical pattern of late onset epilepsy in Ibadan ...

    African Journals Online (AJOL)

    Late onset epilepsy (LOE) is a common neurological problem throughout the world. It is an area that has not been fully explored in the developing countries like Nigeria. The aim of the present study is to determine the pattern of presentation of late onset epilepsy with the view to identifying the etiologic as well as describe ...

  4. A Study of the Etiology of Referred Otalgia

    Directory of Open Access Journals (Sweden)

    Mohammad Hosein Taziki

    2011-01-01

    Conclusion:  In view of the fact that a significant proportion of the patients who complained of otalgia had no pathologies in the ear, thorough physical examination in adjacent structures especially teeth should be performed and malignancies should be considered as a possible etiology of otalgia.

  5. Etiology and clinical management of adult meningitis in Indonesia

    NARCIS (Netherlands)

    Rizal Ganiem, A.

    2013-01-01

    This thesis consists of 8 chapters and addresses the etiology, diagnosis, outcome and treatment of adult meningitis in Indonesia. The studies were conducted in Hasan Sadikin Hospital, Bandung, the referral hospital for West Java province, Indonesia between December 2006 and August 2012. In a

  6. A survey of etiologic hypotheses among testicular cancer researchers

    DEFF Research Database (Denmark)

    Stang, A; Trabert, B; Rusner, C

    2015-01-01

    Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops and ...... etiologic hypotheses that include factors related to endocrine disruption, DNA damage, inflammation, and nutrition during pregnancy. The survey results may stimulate a multidisciplinary discussion about new etiologic hypotheses of testicular cancer.......Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops...... and corresponding authors of PubMed-indexed articles identified by the search term 'testicular cancer' and published within 10 years (in total 2750 recipients) were invited to respond to an e-mail-based survey. Participants of the 8th Copenhagen Testis Cancer Workshop in May 2014 were subsequently asked to rate...

  7. Glutathione dysregulation and the etiology and progression of human diseases.

    NARCIS (Netherlands)

    Ballatori, N.; Krance, S.M.; Notenboom, S.; Shi, S.; Tieu, K.; Hammond, C.L.

    2009-01-01

    Glutathione (GSH) plays an important role in a multitude of cellular processes, including cell differentiation, proliferation, and apoptosis, and as a result, disturbances in GSH homeostasis are implicated in the etiology and/or progression of a number of human diseases, including cancer, diseases

  8. Gingival Recession in a Child‑Patient; Easily Missed Etiologies ...

    African Journals Online (AJOL)

    frenal attachment is more important in gingival recession in the child‑patient. A healthy child‑patient with impeccable oral hygiene presented with localized gingival recession without plaque‑induced inflammation which led to the exploration of other possible etiologies. Multiple factors appeared to be acting in consonance ...

  9. Role of psychosocial factors in the etiology of bruxism

    NARCIS (Netherlands)

    Manfredini, D.; Lobbezoo, F.

    2009-01-01

    AIMS: To summarize literature data about the role of psychosocial factors in the etiology of bruxism. METHODS: A systematic search in the National Library of Medicine's PubMed Database was performed to identify all peer-reviewed papers in the English literature dealing with the bruxism-psychosocial

  10. Childhood Urinary Tract Infection in Abakaliki: Etiological Organisms ...

    African Journals Online (AJOL)

    Background: Urinary tract infection (UTI) is a common childhood infection in the Tropics which causes significant illness and is frequently missed, probably because of its non-specific presentation and similarity with other common illnesses. Objectives: To determine the prevalence, common etiological agents, and the ...

  11. Frequency and Etiology of ADHD in New Onset Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-12-01

    Full Text Available The prevalence, complications and etiology of ADHD were determined in 75 children (age 8-18 years with new/recent onset idiopathic epilepsy nd 62 healthy first-degree cousin controls, in a study at University of Wisconsin School of Medicine and Public Health, Madison, WI; and Rosalind Franklin University of Medicine and Science, North Chicago, IL.

  12. Ketosis in dairy cows: etiologic factors, monitoring, treatment

    NARCIS (Netherlands)

    van der Drift, S.G.A.

    2013-01-01

    Ketosis is a metabolic disorder that mainly occurs during the negative energy balance in early-lactation dairy cows. It is characterized by elevated concentrations of ketone bodies in blood (hyperketonemia), urine, and milk. The thesis of Saskia van der Drift covers investigations on etiologic

  13. A Review of Etiological Formulations and Possible Treatments of Enuresis.

    Science.gov (United States)

    Odebunmi, Akin

    This literature review discusses enuresis from various etiological formulations: pyschoanalytic and psychodynamic; medical and physiological; and behavioral. Both historical and current perspectives on a definition of enuresis are offered. Treatment methodologies are reviewed. An emphasis is placed on the ruling out of medical causes before any…

  14. Infectious uveitis. New developments in etiology and pathogenesis

    NARCIS (Netherlands)

    de Visser, L.

    2009-01-01

    Uveitis is an inflammation of the inner-eye and is initiated by various infectious and noninfectious causes. In a large portion of patients the etiology is unknown and might be associated with until now undiagnosed infections.The identification of infectious uveitis is of crucial importance since

  15. Depression in later life : three etiologically different subgroups

    NARCIS (Netherlands)

    Van den Berg, M.D.; Oldehinkel, A.J.; Bouhuys, A.L.; Brilman, E.I.; Beekman, A.T.F.; Ormel, J.

    Background: Various studies support the notion that early onset depression and late onset depression have different etiological pathways. Late onset depression has been found to be a heterogeneous group. This study attempts to divide the late onset group in two subgroups with different aetiology and

  16. Epidemiology, etiology, and treatment of chronic leg ulcer ...

    African Journals Online (AJOL)

    Background: Chronic leg ulcer (CLU) is reported to have an impact on virtually all aspects of life. Treatment is expensive and has large economic burden on many countries' health services. This presentation is to determine the impact, etiology, and presentation of CLU as well as the procedures for processing in a Nigeria ...

  17. Bronchiolitis in Abha, Southwest Saudi Arabia: viral etiology and ...

    African Journals Online (AJOL)

    Objectives: To determine the viral etiology and predictors for hospital admission of children with bronchiolitis in Abha city, southwest Saudi Arabia. Methods ... Results: Prematurity, chronic lung diseases, atopic dermatitis, pure formula feeding, passive smoking and age = one year were significant predictors of admission.

  18. The etiology and antimicrobial susceptibility patterns of urinary tract ...

    African Journals Online (AJOL)

    The etiology and antimicrobial susceptibility patterns of urinary tract infections at a private Nigerian teaching hospital in South West Nigeria. ... The risk factors for UTI were female gender (p = 0.00), Diabetes mellitus (p = 0.03) and genitourinary surgery (p = 0.04). Effective antibiotics in-vitro to Escherichia coli were ...

  19. Duodenal Obstruction: Etiology, Morbidity and Mortality among Edo ...

    African Journals Online (AJOL)

    Duodenal obstruction in children is associated with poor outcome which has improved in developed but remained poor in developing countries. The objective of this study was to ascertain the etiology, morbidity, mortality and factors that contributed to poor outcome in a developing country. Retrospective analysis of pediatric ...

  20. Molecular subtyping of feline immunodeficiency virus from domestic cats in Australia.

    Science.gov (United States)

    Kann, R K C; Kyaw-Tanner, M T; Seddon, J M; Lehrbach, P R; Zwijnenberg, R J G; Meers, J

    2006-04-01

    To determine the prevalent subtypes of feline immunodeficiency virus (FIV) present in the domestic cat population of Australia. Blood samples were collected from 41 FIV antibody positive cats from four cities across Australia. Following DNA extraction, polymerase chain reaction (PCR) was performed to amplify the variable V3-V5 region of the envelope (env) gene. Genotypes were assessed by direct sequencing of PCR products and comparison with previously reported FIV sequences. Phylogenetic analysis allowed classification of the Australian sequences into the appropriate subtype. Of the 41 FIV samples, 40 were found to cluster with previously reported subtype A isolates, whilst the remaining sample grouped within subtype B. Subtype A was found to be the predominant FIV subtype present in Australia, although subtype B was also found. These results broaden our knowledge of the genetic diversity of FIV and the associated implications for preventative, diagnostic and therapeutic approaches.

  1. The impact of incontinence etiology on artificial urinary sphincter outcomes

    Directory of Open Access Journals (Sweden)

    Adam R. Miller

    2017-07-01

    Full Text Available Purpose: To evaluate the impact of incontinence etiology on artificial urinary sphincter (AUS device outcomes. Materials and Methods: We identified 925 patients who underwent primary AUS placement from 1983 to 2011. The etiology of incontinence was categorized as radical prostatectomy alone, radical prostatectomy with radiation, benign prostate resection, and those with cryotherapy as a salvage prostate cancer treatment. Hazard regression and competing risk analyses were used to determine the association of the etiology of incontinence with device outcomes. Results: The distribution of the 4 etiologies of incontinence included: 598 patients (64.6% treated with prostatectomy alone, 206 (22.2% with prostatectomy and pelvic radiation therapy, 104 (11.2% with benign prostate resection, and 17 (1.8% with prior cryotherapy. With a median follow-up of 4.9 years (interquartile range, 1.2–8.8 years, there was significant difference in the cumulative incidence of device infection/urethral erosion events between the four etiologies (p=0.003. On multivariable analysis, prior cryotherapy (reference prostatectomy alone; hazard ratio [HR], 3.44; p=0.01, older age (HR, 1.07; p=0.0009 and history of a transient ischemic attack (HR, 2.57; p=0.04 were associated with an increased risk of device infection or erosion. Notably, pelvic radiation therapy with prostatectomy was not associated with an increased risk of device infection or erosion (reference prostatectomy alone, p=0.30. Conclusions: Compared to prostatectomy alone, prior treatment with salvage cryotherapy for recurrent prostate cancer was associated with an increased risk of AUS infection/erosion, whereas radiation (in addition to prostatectomy was not.

  2. Etiologic Ischemic Stroke Phenotypes in the NINDS Stroke Genetics Network

    Science.gov (United States)

    Ay, Hakan; Arsava, Ethem Murat; Andsberg, Gunnar; Benner, Thomas; Brown, Robert D.; Chapman, Sherita N.; Cole, John W.; Delavaran, Hossein; Dichgans, Martin; Engström, Gunnar; Giralt-Steinhauer, Eva; Grewal, Raji P.; Gwinn, Katrina; Jern, Christina; Jimenez-Conde, Jordi; Jood, Katarina; Katsnelson, Michael; Kissela, Brett; Kittner, Steven J.; Kleindorfer, Dawn O.; Labovitz, Daniel L.; Lanfranconi, Silvia; Lee, Jin-Moo; Lehm, Manuel; Lemmens, Robin; Levi, Chris; Li, Linxin; Lindgren, Arne; Markus, Hugh S.; McArdle, Patrick F.; Melander, Olle; Norrving, Bo; Peddareddygari, Leema Reddy; Pedersén, Annie; Pera, Joanna; Rannikmäe, Kristiina; Rexrode, Kathryn M.; Rhodes, David; Rich, Stephen S.; Roquer, Jaume; Rosand, Jonathan; Rothwell, Peter M.; Rundek, Tatjana; Sacco, Ralph L.; Schmidt, Reinhold; Schürks, Markus; Seiler, Stephan; Sharma, Pankaj; Slowik, Agnieszka; Sudlow, Cathie; Thijs, Vincent; Woodfield, Rebecca; Worrall, Bradford B.; Meschia, James F.

    2014-01-01

    Background and Purpose NINDS Stroke Genetics Network (SiGN) is an international consortium of ischemic stroke studies that aims to generate high quality phenotype data to identify the genetic basis of etiologic stroke subtypes. This analysis characterizes the etiopathogenetic basis of ischemic stroke and reliability of stroke classification in the consortium. Methods Fifty-two trained and certified adjudicators determined both phenotypic (abnormal test findings categorized in major etiologic groups without weighting towards the most likely cause) and causative ischemic stroke subtypes in 16,954 subjects with imaging-confirmed ischemic stroke from 12 US studies and 11 studies from 8 European countries using the web-based Causative Classification of Stroke System. Classification reliability was assessed with blinded re-adjudication of 1509 randomly selected cases. Results The distribution of etiologic categories varied by study, age, sex, and race (p<0.001 for each). Overall, only 40% to 54% of cases with a given major ischemic stroke etiology (phenotypic subtype) were classified into the same final causative category with high confidence. There was good agreement for both causative (kappa 0.72, 95%CI:0.69-0.75) and phenotypic classifications (kappa 0.73, 95%CI:0.70-0.75). Conclusions This study demonstrates that etiologic subtypes can be determined with good reliability in studies that include investigators with different expertise and background, institutions with different stroke evaluation protocols and geographic location, and patient populations with different epidemiological characteristics. The discordance between phenotypic and causative stroke subtypes highlights the fact that the presence of an abnormality in a stroke patient does not necessarily mean that it is the cause of stroke. PMID:25378430

  3. Different Types of Fantastic Etiology in Hafez Poetry

    Directory of Open Access Journals (Sweden)

    Ghodrat Ghasemipour

    2016-05-01

    Full Text Available  Abstract Fantastic etiology in Persian poetry has such a high status that we can say that this figure of speech is one of the most interested figures between classic Persian poets. This figure is frequently used by Hafez in his poetries so that after equivocalness it is the second rhetorical figure in his poetries. The definition of fantastic etiology is that causality in poetry is based on similarity and it must be aesthetical and satisfactory, not scientific and discursive. By Fantastic etiology poets create imaginative connection between two phenomena; in the other hand, this figure rationally proves the possibility of the impossible and thus presents the lies disguised as truth. The poet’s goal in fantastic etiology is not to invent the cause, but rather to make the conventional descriptions sound unusual. For example, in the line “Because the cloud weeps without reason, tulips and roses laugh at it,” it is the groundless tears of the cloud which cause mockery on the part of the tulips and roses. In this example, two conventional expressions- “the cloud’s tears” (describing the spring rain and “the flowers’ laughter” (describing their blossoming - are connected by a causal relationship which does not exist in reality.   In classical Persian poetry Hafez, along with equivocalness, utilized of fantastic etiology in the best form . His uses of this literary device, like another figures of speech in his poetry, is very natural and unassuming. Understanding, interpreting and aesthetical purpose of some Hafez poetries is based on fantastic etiology.   Companionship, concomitancy and admixture of poetical figures are factors that must be discussed in stylistic analysis of poetry. Literary figures occasionally uses alone in poetry and some when uses together. Though fantastic etiology in rhetoric or figure of thought is an independent figure, but this devise occasionally uses with another

  4. Etiology and STI/HIV coinfections among patients with urethral and vaginal discharge syndromes in South Africa.

    Science.gov (United States)

    Mhlongo, Sakhile; Magooa, Precious; Müller, Etienne E; Nel, Noel; Radebe, Frans; Wasserman, Elizabeth; Lewis, David A

    2010-09-01

    This study was undertaken to establish the etiology of the male urethral discharge (MUDS) and vaginal discharge (VDS) syndromes, to determine the prevalence of other sexually transmitted infections (STI) and human immunodeficiency virus (HIV) coinfections, and to examine associations between STIs and HIV serostatus among STI patients in South Africa. A total of 507 MUDS and 300 VDS patients were recruited in Cape Town (CPT) and Johannesburg (JHB). A multiplex polymerase chain reaction assay detected Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis, and Mycoplasma genitalium infections. Bacterial vaginosis and candidiasis were detected by microscopy. Sera were screened for syphilis, HSV-2, and HIV antibodies. Etiological diagnoses were made for 92% of MUDS patients and 85% of VDS patients. Gonorrhoea accounted for 85% (CPT) and 71% (JHB) of MUDS presentations. Chlamydia was the second most frequently detected MUDS pathogen (CPT, 13%; JHB, 24%). Among VDS patients, bacterial vaginosis was the most common cause (CPT, 46%; JHB, 36%) and trichomoniasis the most frequently detected STI pathogen (CPT, 19%; JHB, 34%). Few patients (4%) had serological evidence of syphilis. The HSV-2 and HIV seroprevalence were higher in Johannesburg compared to Cape Town and among women compared to men. HIV infection was statistically significantly associated with HSV-2 seropositivity at both sites and with the presence of N. gonorrhoeae and absence of C. trachomatis in Cape Town MUDS patients. Gonorrhoea and bacterial vaginosis were confirmed as the most frequent causes of MUDS and VDS. The high HIV seroprevalence in STI patients emphasizes the need to address HIV testing among this population.

  5. Etiology of Acute Respiratory Infections in Infants: A Prospective Birth Cohort Study.

    Science.gov (United States)

    Kumar, Prawin; Medigeshi, Guruprasad R; Mishra, Vishnu S; Islam, Mojahidul; Randev, Shivani; Mukherjee, Aparna; Chaudhry, Rama; Kapil, Arti; Ram Jat, Kana; Lodha, Rakesh; Kabra, Sushil K

    2017-01-01

    There is paucity of studies on etiology of acute respiratory infections (ARI) in infants. The objective of this study is to document incidence and etiology of ARI in infants, their seasonal variability and association of clinical profile with etiology. A birth cohort was followed for the first year of life; for each episode of ARI, nasopharyngeal aspirates were collected to identify the causative respiratory virus(es) using multiplex real-time polymerase chain reaction assay. For lower respiratory tract infections blood culture, serum procalcitonin, serum antibodies to Mycoplasma and Chlamydia and urinary Streptococcus pneumoniae antigen were also assayed. A total of 503 ARI episodes were documented in 310 infants for an incidence rate of 1.8 episodes per infant per year. Of these, samples were processed in 395 episodes (upper respiratory tract infection: 377; lower respiratory tract infection: 18). One or more viruses were detected in 250 (63.3%) episodes and viral coinfections in 72 (18.2%) episodes. Rhinovirus was the most common virus [105 (42%)] followed by respiratory syncytial virus [50 (20%)], parainfluenza virus [42 (16.8%)] and coronavirus [44 (17.6%)]. In lower respiratory tract infections, viral infections were detected in 12 (66.7%) episodes, bacterial infections in 17 (94.4%) episodes and mixed bacterial-viral infections in 8 (44.4%) episodes. Peak incidence of viruses was observed during February-March and September-November. There was no significant difference in symptom duration with virus types. In this cohort of infants, ARI incidence was 1.8 episodes per year per infant; 95% were upper respiratory tract infections. Viruses were identified in 63.3% episodes, and the most common viruses detected were rhinovirus, respiratory syncytial virus and parainfluenza virus.

  6. Viral carcinogenesis: revelation of molecular mechanisms and etiology of human disease

    Science.gov (United States)

    Butel, J. S.

    2000-01-01

    The RNA and DNA tumor viruses have made fundamental contributions to two major areas of cancer research. Viruses were vital, first, to the discovery and analysis of cellular growth control pathways and the synthesis of current concepts of cancer biology and, second, to the recognition of the etiology of some human cancers. Transforming retroviruses carry oncogenes derived from cellular genes that are involved in mitogenic signalling and growth control. DNA tumor viruses encode oncogenes of viral origin that are essential for viral replication and cell transformation; viral oncoproteins complex with cellular proteins to stimulate cell cycle progression and led to the discovery of tumor suppressors. Viral systems support the concept that cancer development occurs by the accumulation of multiple cooperating events. Viruses are now accepted as bona fide etiologic factors of human cancer; these include hepatitis B virus, Epstein-Barr virus, human papillomaviruses, human T-cell leukemia virus type I and hepatitis C virus, plus several candidate human cancer viruses. It is estimated that 15% of all human tumors worldwide are caused by viruses. The infectious nature of viruses distinguishes them from all other cancer-causing factors; tumor viruses establish long-term persistent infections in humans, with cancer an accidental side effect of viral replication strategies. Viruses are usually not complete carcinogens, and the known human cancer viruses display different roles in transformation. Many years may pass between initial infection and tumor appearance and most infected individuals do not develop cancer, although immunocompromised individuals are at elevated risk of viral-associated cancers. Variable factors that influence viral carcinogenesis are reviewed, including possible synergy between viruses and environmental cofactors. The difficulties in establishing an etiologic role for a virus in human cancer are discussed, as well as the different approaches that proved

  7. Interactions of human immunodeficiency virus-1 proteins with neurons : possible role in the development of human immunodeficiency virus-1-associated dementia

    NARCIS (Netherlands)

    van de Bovenkamp, M; Nottet, HSLM; Pereira, CF

    Human immunodeficiency virus-1 (HIV-1)-associated dementia is a severe neurological complication of HIV-1 infection that affects 15-20% of the patients in the late stages of acquired immunodeficiency syndrome. HIV-1-associated dementia is most probably a consequence of HIV-1 infection of the brain

  8. 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...

  9. Acquired immunodeficiency syndrome associated with blood-product transfusions

    Energy Technology Data Exchange (ETDEWEB)

    Jett, J.R.; Kuritsky, J.N.; Katzmann, J.A.; Homburger, H.A.

    1983-11-01

    A 53-year-old white man had fever, malaise, and dyspnea on exertion. His chest roentgenogram was normal, but pulmonary function tests showed impaired diffusion capacity and a gallium scan showed marked uptake in the lungs. Results of an open-lung biopsy documented Pneumocystis carinii pneumonia. Immunologic test results were consistent with the acquired immunodeficiency syndrome. The patient denied having homosexual contact or using intravenous drugs. Twenty-nine months before the diagnosis of pneumocystis pneumonia was made, the patient had had 16 transfusions of whole blood, platelets, and fresh-frozen plasma during coronary artery bypass surgery at another medical center. This patient is not a member of any currently recognized high-risk group and is believed to have contracted the acquired immunodeficiency syndrome from blood and blood-product transfusions.

  10. Rethinking platelet function: thrombocytopenia induced immunodeficiency in critical illness

    DEFF Research Database (Denmark)

    Ostrowski, Sisse R; Johansson, Per Ingemar

    2011-01-01

    Thrombocytopenia in critical illness predicts a poor clinical outcome. Apart from its role in microvascular thrombus formation, it is widely anticipated that this association is indirect rather than causal. Emerging evidence however indicates that platelets are also immune competent cells. Like...... traditional innate immune cells, platelets are recruited immediately into injured and inflamed tissue, they release immune mediators, express and shed immunologically active membrane receptors, they interact with other immune cells and they recognize and clear pathogens. We hypothesize that thrombocytopenia...... per se results in immunodeficiency through loss of platelet-mediated immune functions, and propose that thrombocytopenia induced immunodeficiency in critical illness in part explain the negative predictive value of low or declining platelet count. We propose that rethinking the risks...

  11. Molecular and genetic basis of X-linked immunodeficiency disorders

    Energy Technology Data Exchange (ETDEWEB)

    Puck, J.M. (National Center for Human Genome Research, Bethesda, MD (United States))

    1994-03-01

    Within a short time interval the specific gene defects causing three X-linked human immunodeficiencies, agammaglobulinemia (XLA), hyper-IgM syndrome (HIGM), and severe combined immunodeficiency (XSCID), have been identified. These represent the first human disease phenotypes associated with each of three gene families already recognized to be important in lymphocyte development and signaling: XLA is caused by mutations of a B cell-specific intracellular tyrosine kinase; HIGM, by mutations in the TNF-related CD40 ligand, through which T cells deliver helper signals by direct contact with B cell CD40; and XSCID, by mutations in the [gamma] chain of the lymphocyte receptor for IL-2. Each patient mutation analyzed to date has been unique, representing both a challenge for genetic diagnosis and management and an important resource for dissecting molecular domains and understanding the physiologic function of the gene products.

  12. [Pulmonary complications in children with human immunodeficiency virus infection].

    Science.gov (United States)

    Brockmann V, Pablo; Viviani S, Támara; Peña D, Anamaría

    2007-08-01

    Pulmonary complications in children infected by human immunodeficiency virus (HIV) are common and may be the first manifestation of acquired immunodeficiency syndrome (AIDS). The aim of our study was to review pulmonary diseases and complications in pediatric patients with HIV infection in a large tertiary hospital in Santiago, Chile. We performed a retrospective, descriptive analysis of 17 patients with HIV infection controlled at the Hospital Dr. Sótero del Rio. Respiratory complications/diseases were: overall pneumonia (n: 14), recurrent pneumonia (n: 10), citomegalovirus associated pneumonia (n: 4), Pneumocystis jiroveci associated pneumonia (n: 1) pulmonary tuberculosis (n: 1), lymphoid interstitial pneumonia (n: 3) and chronic pulmonary disease (n: 7). Microorganisms isolated were mostly atypical and frequently associated with severe and chronic pulmonary damage. A high degree of suspicion is required to detect atypical microorganisms promptly, in order to rapidly implement pathogen targeted therapy that could potentially decrease the possibility of sequelae.

  13. Mandatory premarital testing for human immunodeficiency virus. The Illinois experience.

    Science.gov (United States)

    Turnock, B J; Kelly, C J

    1989-06-16

    During the first 6 months of legislatively mandated premarital testing for human immunodeficiency virus in Illinois, 8 of 70,846 applicants for marriage licenses were found to be seropositive, yielding a seroprevalence of 0.011%. The total cost of the testing program for 6 months is estimated at $2.5 million or $312,000 per seropositive individual identified. Half of the reported seropositive individuals reported a history of risk behavior. During the same period, the number of marriage licenses issued in Illinois decreased by 22.5%, while the number of licenses issued to Illinois residents in surrounding states increased significantly. We conclude that mandatory premarital testing is not a cost-effective method for the control of human immunodeficiency virus infection.

  14. Romiplostim as early treatment of immune thrombocytopenia with severe immunodeficiency

    Directory of Open Access Journals (Sweden)

    Francesca Palandri

    2012-06-01

    Full Text Available Immunosuppressive agents are the standard therapeutic approach for immune thrombocytopenia (ITP. Their prolonged use may increase the risk of infectious complications, particularly when the patient is already at higher infectious risk. In this setting, the use of drugs with a mechanism of action alternative to immunosuppression, like thrombopoietin receptor agonists (TRAs, may find particular indication. We report the unique case of a patient with severe immunodeficiency and ITP, who experienced a serious infectious complication while on steroids treatment, and who was successfully treated with Romiplostim second- line. The present experience supports the effectiveness and safety of TRAs as early treatment of ITP patients with drug-induced immunodeficiency or with active infections.

  15. Rapidly progressive periodontal disease associated with human immunodeficiency virus.

    Science.gov (United States)

    Al-Hezaimi, Khalid; Javed, Fawad; Ali, Tazeen Saeed; Al-Askar, Mansour; Al-Rasheed, Abdulaziz

    2012-03-01

    Severe periodontal inflammation with generalized dental plaque accumulation, spontaneous and severe gingival bleeding, fungal infection, and interdental 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 indentify 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.

  16. [A case of acquired immunodeficiency syndrome with ileocecal ulcer].

    Science.gov (United States)

    Iwasaki, Tetsuyoshi; Saruta, Masayuki; Sawada, Ryoichi; Ide, Daisuke; Arihiro, Seiji; Matsuoka, Mika; Katoh, Tomohiro; Tajiri, Hisao

    2015-10-01

    We report a case of a patient with acquired immunodeficiency syndrome (AIDS) and ileocecal ulcer. A 31-year-old man was admitted with chief complaints of decreased body weight and abdominal pain. Colonoscopy revealed a round punched-out ulcer on the ileocecal valve. Initially, we suspected entero-Behçet's disease and simple ulcer as the cause of the ileocecal ulcer. However, after histologic examination of tissue biopsies obtained during colonoscopy, we diagnosed the patient as having cytomegalovirus (CMV) enteritis. Based on the patient's white blood cell depletion and CMV enteritis, we performed a human immunodeficiency virus (HIV) antibody test. The test was positive, and the diagnosis of AIDS was established. The number of patients with AIDS has been increasing in Japan; thus, we should consider the possibility of CMV enteritis and AIDS in young adult patients affected by ileocecal ulcer with no notable history.

  17. 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.

  18. Cerebral computed tomography in men with acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Brun, B.; Boesen, F.; Gerstoft, J.; Nielsen, J.O.; Praestholm, J.

    Cerebral CT scannings were performed in 19 homosexual men with the acquired immunodeficiency syndrome (AIDS). Nearly half of them (9 patients) had cortical atrophy. Three patients with toxoplasmosis had cerebral pathology, in two of them with ring enhancement while the third had an ill-defined nonspecific lesion with slight heterogeneous enhancement without ring formation. Two patients with multifocal leucoencephalopathy and non-Hodgkin's lymphoma, respectively, presented non-enhancing, low attenuating lesions at CT.

  19. [Reflection on treatment of acquired immunodeficiency syndrome by integrative medicine].

    Science.gov (United States)

    Wang, Dan-Ni

    2012-02-01

    The current situation of Chinese medicine and Western medicine treatment of acquired immunodeficiency syndrome (AIDS) has made the integrative medicine treatment of AIDS an important treatment strategy. Integrative medicine treatment of AIDS has made certain achievements in clinical research, basic research, and other aspects. It has good mass foundation and curative efficacy, as well as insufficiency. I hope integrative medicine can be brought into full play in the treatment of AIDS and make breakthrough progress.

  20. Arterial Disease in Patients With Human Immunodeficiency Virus Infection

    OpenAIRE

    Stein, James H.; Currier, Judith S.; HSUE, Priscilla Y

    2014-01-01

    With advances in antiretroviral therapy, individuals with human immunodeficiency virus (HIV) infection are living longer and increasingly die of non-HIV related diseases such as cardiovascular disease (CVD). Several observational studies suggest that HIV-infected patients on ART are at increased CVD risk; however, the precise mechanisms underlying the association between HIV infection and CVD risk are uncertain. Atherosclerosis and arterial disease in HIV-infected individuals is a multifactor...

  1. Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

    Science.gov (United States)

    Dotta, Laura; Badolato, Raffaele

    2014-10-01

    Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Human immunodeficiency virus type-1 (HIV-1) genetic diversity and ...

    African Journals Online (AJOL)

    PROGMANAGER

    2013-04-24

    Apr 24, 2013 ... Human immunodeficiency virus type-1 (HIV-1) genetic diversity and prevalence of antiretroviral drug resistance mutations in treatment-naïve adults in Jos,. North Central Nigeria. Anejo-Okopi J. A.1*, Agbaji O. O.1,2, Agaba P. A.1,3, Ugoagwu P. O.1, Were K.4, Onywera H.4,. Owiti P.4, Isa S. E1,2, Otecko N.4 ...

  3. 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.

  4. Immunopathogenesis of Oropharyngeal Candidiasis in Human Immunodeficiency Virus Infection

    OpenAIRE

    De Repentigny, Louis; Lewandowski, Daniel; Jolicoeur, Paul

    2004-01-01

    Oropharyngeal and esophageal candidiases remain significant causes of morbidity in human immunodeficiency virus (HIV)-infected patients, despite the dramatic ability of antiretroviral therapy to reconstitute immunity. Notable advances have been achieved in understanding, at the molecular level, the relationships between the progression of HIV infection, the acquisition, maintenance, and clonality of oral candidal populations, and the emergence of antifungal resistance. However, the critical i...

  5. Successful nonsibling bone marrow transplantation in severe combined immunodeficiency

    DEFF Research Database (Denmark)

    Ramsøe, K; Skinhøj, P; Andersen, V

    1978-01-01

    Severe combined immunodeficiency (SCID) was diagnosed in a girl immediately after birth; her older brother had SCID and was successfully reconstituted by bone marrow transplantation from his uncle. She was isolated in a laminar air flow bench and decontaminated. The father differed by one HLA-A a......A); tests of cell-mediated immunity are normal. Apart from slight upper respiratory infections, the patient has been healthy. Physical and psychological development have been normal....

  6. Efficacy of Antiviral Drugs against Feline Immunodeficiency Virus

    Directory of Open Access Journals (Sweden)

    Katrin Hartmann

    2015-12-01

    Full Text Available Feline immunodeficiency virus (FIV is one of the most common infectious agents affecting cats worldwide .FIV and human immunodeficiency virus (HIV share many properties: both are lifelong persistent lentiviruses that are similar genetically and morphologically and both viruses propagate in T-lymphocytes, macrophages, and neural cells. Experimentally infected cats have measurable immune suppression, which sometimes progresses to an acquired immunodeficiency syndrome. A transient initial state of infection is followed by a long latent stage with low virus replication and absence of clinical signs. In the terminal stage, both viruses can cause severe immunosuppression. Thus, FIV infection in cats has become an important natural model for studying HIV infection in humans, especially for evaluation of antiviral compounds. Of particular importance for chemotherapeutic studies is the close similarity between the reverse transcriptase (RT of FIV and HIV, which results in high in vitro susceptibility of FIV to many RT-targeted antiviral compounds used in the treatment of HIV-infected patients. Thus, the aim of this article is to provide an up-to-date review of studies on antiviral treatment of FIV, focusing on commercially available compounds for human or animal use.

  7. Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Kathryn Victoria Whitmore

    2016-08-01

    Full Text Available Adenosine deaminase (ADA deficiency is best known as a form of severe combined immunodeficiency (SCID which results from mutations in the gene encoding adenosine deaminase. Affected patients present with clinical and immunological manifestations typical of a severe combined immunodeficiency. Therapies are currently available that can that target these immunological disturbances and treated patients show varying degrees of clinical improvement. However, there is now a growing body of evidence that deficiency of ADA has significant impact on non-immunological organ systems. This review will outline the impact of ADA deficiency on various organ systems, starting with the well understood immunological abnormalities. We will discuss possible pathogenic mechanisms and also highlight ways in which current treatments could be improved. In doing so, we aim to present ADA deficiency as more than an immunodeficiency and suggest that it should be recognized as a systemic metabolic disorder that affects multiple organ systems. Only by fully understanding ADA deficiency and its manifestations in all organ systems can we aim to deliver therapies that will correct all the clinical consequences.

  8. Bacteremia and fungemia in patients with the acquired immunodeficiency syndrome.

    Science.gov (United States)

    Whimbey, E; Gold, J W; Polsky, B; Dryjanski, J; Hawkins, C; Blevins, A; Brannon, P; Kiehn, T E; Brown, A E; Armstrong, D

    1986-04-01

    Forty-nine episodes of bacteremia and fungemia occurred in 38 of 336 patients with the acquired immunodeficiency syndrome seen at our institution since 1980. There were five types of infections. Infections commonly associated with a T-cell immunodeficiency disorder comprised 16 episodes and included those with Salmonella species, Listeria monocytogenes, Cryptococcus neoformans, and Histoplasma capsulatum. Infections commonly associated with a B-cell immunodeficiency disorder included those with Streptococcus pneumoniae and Haemophilus influenzae. Infections occurring with neutropenia were caused by Pseudomonas aeruginosa, Staphylococcus epidermidis, and Streptococcus faecalis. Other infections occurring in the hospital were caused by Candida albicans, Staphylococcus epidermidis, enteric gram-negative rods, Staphylococcus aureus, and mixed S. aureus and group G streptococcus. Other infections occurring out of the hospital included those with S. aureus, Clostridium perfringens, Shigella sonnei, Pseudomonas aeruginosa, and group B streptococcus. Because two thirds of the septicemias were caused by organisms other than T-cell opportunists, these pathogens should be anticipated during diagnostic evaluation and when formulating empiric therapy.

  9. Leptospirosis and Human Immunodeficiency Virus Co-Infection Among Febrile Inpatients in Northern Tanzania

    Science.gov (United States)

    Biggs, Holly M.; Galloway, Renee L.; Bui, Duy M.; Morrissey, Annie B.; Maro, Venance P.

    2013-01-01

    Abstract Background Leptospirosis and human immunodeficiency virus (HIV) infection are prevalent in many areas, including northern Tanzania, yet little is known about their interaction. Methods We enrolled febrile inpatients at two hospitals in Moshi, Tanzania, over 1 year and performed HIV antibody testing and the microscopic agglutination test (MAT) for leptospirosis. Confirmed leptospirosis was defined as ≥four-fold rise in MAT titer between acute and convalescent serum samples, and probable leptospirosis was defined as any reciprocal MAT titer ≥800. Results Confirmed or probable leptospirosis was found in 70 (8.4%) of 831 participants with at least one serum sample tested. At total of 823 (99.0%) of 831 participants had HIV testing performed, and 203 (24.7%) were HIV infected. Among HIV-infected participants, 9 (4.4%) of 203 had confirmed or probable leptospirosis, whereas among HIV-uninfected participants 61 (9.8%) of 620 had leptospirosis. Leptospirosis was less prevalent among HIV-infected as compared to HIV-uninfected participants [odds ratio (OR) 0.43, p=0.019]. Among those with leptospirosis, HIV-infected patients more commonly presented with features of severe sepsis syndrome than HIV-uninfected patients, but differences were not statistically significant. Among HIV-infected patients, severe immunosuppression was not significantly different between those with and without leptospirosis (p=0.476). Among HIV-infected adolescents and adults, median CD4 percent and median CD4 count were higher among those with leptospirosis as compared to those with other etiologies of febrile illness, but differences in CD4 count did not reach statistical significance (p=0.015 and p=0.089, respectively). Conclusions Among febrile inpatients in northern Tanzania, leptospirosis was not more prevalent among HIV-infected patients. Although some indicators of leptospirosis severity were more common among HIV-infected patients, a statistically significant difference was not

  10. Relationship between trauma mechanism and etiology on mandibular fracture patterns

    Directory of Open Access Journals (Sweden)

    Fakhrurrazi Fakhrurrazi

    2010-03-01

    Full Text Available Background: Mandibular fracture occurs more commonly than maxillary fracture because of its prominent position and its arrow arch like bone anatomy. Many factors may cause mandibular fracture. Motorcycle accident is the main etiology of mandibular fracture in the world. Based on the literature, 43% mandibular fractures are caused by motorcycle accident, 34% by violence, 7% by accident at work, 7% by fall, 4% by sports and the others were caused by various things. Purpose: The purpose of this study was to know the relation between the etiology and mechanisms of trauma and the patterns of mandibular fracture at Hasan Sadikin Hospital, Bandung, from January 2006 to October 2007. Method: The study was taken on patients with mandibular fractures who came to Hasan Sadikin Hospital Bandung. The data were taken retrospectively by documenting the etiologies of mandibular fracture, the mechanisms of fracture, and the location of mandibular fracture. The data were analyzed with Chi Square statistic test. Result: The result showed that There were 83 mandibular fractures. The mandibular fracture more commonly attacks men about 77%, and women about 22.9%. Mandibular fracture occurs more often between the age group of 21-30 years old, about 31 people (37.3%. Mandibular fracture was mostles often caused by motorcycle accident, affecting about 71 people (85.5%. Parasymphysis fracture is the most common fracture location among mandibular fracture cases, about 47 people (56.6%. Conclusion: It can be concluded that there is no significant relationship between the etiology and mechanisms of trauma and the pattern of mandibular fracture.Latar belakang: Fraktur mandibula lebih sering terjadi dibandingkan dengan fraktur maksilla karenaposisinya yang lebihprominen dan bentuk anatomi tulang seperti busur panah. Banyak faktor yang dapat menyebabkan terjadinya fraktur mandibula. Kecelakaan kendaraan bermotor merupakan etiologi utama penyebab fraktur mandibula di dunia

  11. Space adaptation syndrome: multiple etiological factors and individual differences

    Science.gov (United States)

    Lackner, J. R.; DiZio, P.

    1991-01-01

    Space motion sickness is a significant operational concern in the American and Soviet space programs. Nearly 70% of all astronauts and cosmonauts are affected to some degree during their first several days of flight. It is now beginning to appear that space motion sickness like terrestrial motion sickness is the consequence of multiple etiological factors. As we come to understand basic mechanisms of spatial orientation and sensory-motor adaptation we can begin to predict etiological factors in different motion environments. Individuals vary greatly in the extent to which they are susceptible to these different factors. However, individuals seem to be relatively self-consistent in terms of their rates of adaptation to provocative stimulation and their retention of adaptation. Attempts to relate susceptibility to motion sickness during the microgravity phases of parabolic flight maneuvers to vestibular function under 1G and 0G test conditions are described.

  12. Controversies about a common etiology for eating and mood disorders

    Directory of Open Access Journals (Sweden)

    Clara eRossetti

    2014-10-01

    Full Text Available Obesity and depression represent a growing health concern worldwide. For many years, basic science and medicine have considered obesity as a metabolic illness, while depression was classified a psychiatric disorder. Despite accumulating evidence suggesting that obesity and depression may share commonalities though, the causal link between eating and mood disorders remains to be fully understood. This etiology is highly complex, consisting of multiple environmental and genetic risk factors that interact with each other. In this review, we sought to summarize the preclinical and clinical evidence supporting a common etiology for eating and mood disorders, with a particular emphasis on signaling pathways involved in the maintenance of energy balance and mood stability, among which orexigenic and anorexigenic neuropeptides, metabolic factors, stress responsive hormones, cytokines and neurotrophic factors.

  13. The etiology of primary femoroacetabular impingement: genetics or acquired deformity?

    Science.gov (United States)

    Packer, Jonathan D; Safran, Marc R

    2015-10-01

    The etiology of primary femoroacetabular impingement (FAI) remains controversial. Both genetic and acquired causes have been postulated and studied. While recent studies suggest that genetic factors may have a role in the development of FAI, there is no conclusive evidence that FAI is transmitted genetically. Currently, the most popular theory for the development of cam-type deformities is that a repetitive injury to the proximal femoral physis occurs during a critical period of development. There is a correlation between a high volume of impact activities during adolescence and the development of cam-type deformities. Multiple studies have found a high prevalence of FAI in elite football, ice hockey, basketball and soccer players. In this article, we review the current literature relating to the etiology of primary FAI.

  14. Etiologies and Treatments of Odontogenic Maxillary Sinusitis: A Systematic Review

    Science.gov (United States)

    Akhlaghi, Fahimeh; Esmaeelinejad, Mohammad; Safai, Pooria

    2015-01-01

    Context: Maxillary sinusitis is an important issue in dentistry and maxillofacial surgery. This study aims to present a systematic review of etiologies and treatments of odontogenic maxillary sinusitis. Evidence Acquisition: An electronic database search was performed based on related MeSH keywords. Articles published between January 2001 and December 2014 was selected according to the inclusion criteria. The information extracted from various studies was categorized in various tables. Results: The study selected 19 studies. In most studies, oroantral fistula (OAF) was the most common etiology of odontogenic sinusitis. Alpha-hemolytic streptococcus was the most common flora in sinusitis with dental origin. The literature shows that the Caldwell-Luc approach may be the best method for treating sinusitis in cases of displaced teeth. Conclusions: OAF is a common cause of odontogenic maxillary sinusitis and may easily be treated by endoscopy and fistula closure. Maxillofacial surgeons and dentists should consider this problem to avoid misdiagnosis and prevent complications. PMID:26756016

  15. Microprolactinoma with visual field defect: An unsuspected etiology

    Directory of Open Access Journals (Sweden)

    K. V. S. Hari Kumar

    2013-01-01

    Full Text Available Microprolactinomas present usually with menstrual disturbance and galactorrhoea. The presence of visual field defects is not expected in these patients as the tumor does not involve structures outside the sella. Visual field defects in a case of microprolactinoma confuse the clinician and warrant extensive search for an alternate etiology. We present a young lady with microprolactinoma and visual field defects. Etiological work-up revealed a diagnosis of idiopathic intracranial hypertension (IIH associated with microprolactinoma. Treatment with Acetazolamide and Cabergoline completely resolved the clinical symptoms and visual defects. The unusual occurrence of IIH in a case of microprolactinoma as the cause of visual field defect is highlighted in our case report.

  16. The Role of Infertility Etiology in Success Rate of Intrauterine Insemination Cycles: An Evaluation of Predictive Factors for Pregnancy Rate

    Science.gov (United States)

    Ashrafi, Mahnaz; Rashidi, Mandana; Ghasemi, Afsaneh; Arabipoor, Arezoo; Daghighi, Sara; Pourasghari, Parisa; Zolfaghari, Zahra

    2013-01-01

    Background: The objective of this study was to identify the prognostic factors that influence the outcome of ovarian stimulation with intrauterine insemination (IUI) cycles in couples with different infertility etiology. Materials and Methods: This retrospective study was performed in data of 1348 IUI cycles with ovarian stimulation by clomiphene citrate (CC) and/or gonadotropins in 632 women with five different infertility etiology subgroups at Akbarabbadi Hospital, Tehran, Iran. Results: The pregnancy rate (PR)/ cycle was highest (19.9%) among couples with unexplained infertility and lowest (10.6%) in couples with multiple factors infertility. In cases of unexplained infertility, the best PRs were seen after CC plus gonadotropins stimulation (26.3%) and with inseminated motile sperm count>30×106 (21.9%), but the tendency didn’t reach statistical significant. In the ovarian factor group, the best PRs were observed in women aged between 30 and 34 years (20.8%), with 2-3 preovulatory follicles (37.8%) and infertility duration between 1and 3 years (20.8%), while only infertility duration (p=0.03) and number of preovulatory follicles (p=0.01) were statistically significant. Multiple logistic regression analysis determined that number of preovulatory follicles (p=0.02), duration of infertility (p=0.015), age (p=0.019), infertility etiology (p=0.05) and stimulation regimen (p=0.01) were significant independent factors in order to predict overall clinical PR. Conclusion: The etiology of infertility is important to achieve remarkable IUI success. It is worth mentioning that within different etiologies of infertility, the demographic and cycles characteristics of couples did not show the same effect. Favorable variables for treatment success are as follows: age infertility ≤5 years and a cause of infertility except of multiple factors. PMID:24520471

  17. Etiology and Outcome of Diffuse Acute Infectious Bronchiolitis in Adults.

    Science.gov (United States)

    Ryu, Kai; Takayanagi, Noboru; Ishiguro, Takashi; Kanauchi, Tetsu; Kawate, Eriko; Kagiyama, Naho; Sugita, Yutaka

    2015-12-01

    The etiology and outcome of diffuse acute infectious bronchiolitis (DAIB) in adults is not well known. To retrospectively review adult patients with DAIB without pneumonia, document the etiologies and outcomes, and assess the relation between DAIB and postinfectious bronchiolitis obliterans. We retrospectively analyzed medical records of 1,664 patients with lower respiratory tract infections admitted to our institution in Saitama, Japan. DAIB was diagnosed when patients developed acute feverish lower respiratory tract infection and chest computed tomography demonstrated mainly multiple centrilobular nodules in four or more lobes. Pneumonia was diagnosed when patients developed acute feverish lower respiratory tract infection and chest computed tomography demonstrated consolidation and/or ground-glass opacities with or without centrilobular nodules. Of the 1,664 patients, 20 (1.2%) and 1,644 (98.8%) patients were diagnosed as having DAIB and pneumonia, respectively. Of the 20 patients with DAIB, the etiology was determined in 16 (80%): 13 (65.0%) had a single pathogen and 3 (15.0%) had two pathogens. Detected organisms included Mycoplasma pneumoniae in eight (40.0%) patients, influenza virus in two (10.0%), influenza virus and Streptococcus pneumoniae in two (10.0%), Haemophilus influenzae in three (15.0%), and respiratory syncytial virus and rhinovirus in one (5.0%) patient. All patients improved and none developed postinfectious bronchiolitis obliterans. The three most common etiologies of DAIB in the studied adults were M. pneumoniae, influenza virus, and H. influenzae. None of the patients with DAIB developed postinfectious bronchiolitis obliterans.

  18. Sarcopenia: its assessment, etiology, pathogenesis, consequences and future perspectives.

    Science.gov (United States)

    Rolland, Y; Czerwinski, S; Abellan Van Kan, G; Morley, J E; Cesari, M; Onder, G; Woo, J; Baumgartner, R; Pillard, F; Boirie, Y; Chumlea, W M C; Vellas, B

    2008-01-01

    Sarcopenia is a loss of muscle protein mass and loss of muscle function. It occurs with increasing age, being a major component in the development of frailty. Current knowledge on its assessment, etiology, pathogenesis, consequences and future perspectives are reported in the present review. On-going and future clinical trials on sarcopenia may radically change our preventive and therapeutic approaches of mobility disability in older people.

  19. Prevalence, etiology, diagnosis, treatment and complications of supernumerary teeth

    OpenAIRE

    Ata-Ali Mahmud, Fadi; Ata-Ali Mahmud, Francisco Javier; Peñarrocha Oltra, David; Peñarrocha Diago, Miguel

    2014-01-01

    The aim of this article was to review the literature on supernumerary teeth, analyzing their prevalence, etiology, diagnosis, treatment and possible complications. An electronic search was made in the Pubmed-Medline database up to January 2014 using the key search terms ?multiple supernumerary teeth? (n=279), ?prevalence supernumerary teeth? (n=361), and ?supernumerary teeth? (n=2412). In addition to the articles initially identified, others were included in the review proceeding from a manua...

  20. Bilateral vestibular hypofunction: Insights in etiologies, clinical subtypes and diagnostics

    OpenAIRE

    F. eLucieer; P. eVonk; N. eGuinand; R. eStokroos; H. eKingma; R. evan de Berg

    2016-01-01

    Objective:To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH) and the value of diagnostic tools in the diagnostic process of BVH.Materials and methods: A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised 1) imbalance and/or oscillopsia during locomotion, and 2) summated slow phase velocity of nystagmus of less than 20 degrees per second ...

  1. Bilateral Vestibular Hypofunction: Insights in Etiologies, Clinical Subtypes, and Diagnostics

    OpenAIRE

    Lucieer, F.; Vonk, P.; Guinand, N; Stokroos, R.; Kingma, H.; van de Berg, Raymond

    2016-01-01

    Objective To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH) and the value of diagnostic tools in the diagnostic process of BVH. Materials and methods A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised (1) imbalance and/or oscillopsia during locomotion and (2) summated slow phase velocity of nystagmus of less than 20°/s duri...

  2. The etiology of primary femoroacetabular impingement: genetics or acquired deformity?

    OpenAIRE

    Packer, Jonathan D.; Safran, Marc R.

    2015-01-01

    The etiology of primary femoroacetabular impingement (FAI) remains controversial. Both genetic and acquired causes have been postulated and studied. While recent studies suggest that genetic factors may have a role in the development of FAI, there is no conclusive evidence that FAI is transmitted genetically. Currently, the most popular theory for the development of cam-type deformities is that a repetitive injury to the proximal femoral physis occurs during a critical period of development. ...

  3. Etiology and Pathogenesis of Diabetic Microangiopathy. Biochemical and Molecular Considerations

    OpenAIRE

    Milagros Lisset León Regal; Lázaro Hermes González Otero; Zoe Alina González Otero; José Omar de Armas García; Alexis Urquiza Hurtado; Gerardo Rodríguez Caña

    2013-01-01

    Diabetes mellitus is a metabolic disease widely spread today, causing high costs to health and the global economy. Microangiopathy is one of its most significant late complications and the leading cause of disabling complications in advanced diabetes. This paper aimed at describing the etiology and pathogenesis of diabetic microangiopathy considering the current knowledge about the involved molecular events and their particular manifestation in diabetic nephropathy and retinopathy. It was con...

  4. Prognostic value of EEG in different etiological types of coma.

    Science.gov (United States)

    Khaburzania, M; Beridze, M

    2013-06-01

    Study aimed at evaluation of prognostic value of standard EEG in different etiology of coma and the influence of etiological factor on the EEG patterns and coma outcome. Totally 175 coma patients were investigated. Patients were evaluated by Glasgow Coma Scale (GCS), clinically and by 16 channel electroencephalography. Auditory evoked potentials studied by EEG -regime for evoked potentials in patients with vegetative state (VS). Patients divided in 8 groups according to coma etiology. All patients were studied for photoreaction, brainstem reflexes, localization of sound and pain, length of coma state and outcome. Brain injury visualized by conventional CT. Outcome defined as death, VS, recovery with disability and without disability. Disability was rated by Disability Rating Scale (DRS). Recovered patients assessed by Mini Mental State Examination (MMSE) scale. Statistics performed by SPSS-11.0. From 175 coma patients 55 patients died, 23 patients found in VS, 97 patients recovered with and without disability. In all etiological groups of coma the background EEG patterns were established. Correspondence analysis of all investigated factors revealed that sound localization had the significant association with EEG delta and theta rhythms and with recovery from coma state (Chi-sqr. =31.10493; p= 0.000001). Among 23 VS patients 9 patients had the signs of MCS and showed the long latency waves (p300) after binaural stimulation. The high amplitude theta frequencies in frontal and temporal lobes significantly correlated with prolongation of latency of cognitive evoked potentials (r=+0.47; pcoma outcome only in hemorrhagic and traumatic coma (chi-sqr.=12.95; pcoma outcome. Low amplitude decreased power delta and theta frequencies correlated with SND in survived coma patients (r=+0.21; pcoma patients with a high probability to recover as well as those patients, who are at high risk of SND in case of recovery from coma state.

  5. PULMONARY EMBOLISM IN BREAST CANCER: ETIOLOGY, PATHOPHYSIOLOGY AND TREATMENT APPROACHES

    OpenAIRE

    I. D. Rozanov; E. A. Rozanova; E. I. Shirikov; A. S. Balkanov; L. E. Gaganov; E. A. Stepanova

    2016-01-01

    Pulmonary embolism in breast cancer is one of the causes of major deterioration of health status of the patients. Pulmonary artery occlusion is most often a  consequence of venous thromboembolism; this condition is referred to as "pulmonary thromboembolism". Significantly less common cause of occlusion of the pulmonary artery branches can be embolism by a  cluster of tumor cells, accompanied by development of pulmonary tumor thrombotic microangiopathy. This paper reviews data on the etiology ...

  6. Early-onset dementias: diagnostic and etiological considerations

    OpenAIRE

    Masellis, Mario; Sherborn, Kayla; Neto, Pedro Rosa; Sadovnick, Dessa A; Hsiung, Ging-Yuek R.; Black, Sandra E.; Prasad, Sadhana; Williams, Meghan; Gauthier, Serge

    2013-01-01

    This paper summarizes the body of literature about early-onset dementia (EOD) that led to recommendations from the Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia. A broader differential diagnosis is required for EOD compared with late-onset dementia. Delays in diagnosis are common, and the social impact of EOD requires special care teams. The etiologies underlying EOD syndromes should take into account family history and comorbid diseases, such as cerebrovascu...

  7. Etiology of congenital hypothyroidism in Isfahan: Does it different?

    Directory of Open Access Journals (Sweden)

    Mahin Hashemipour

    2014-01-01

    Conclusion: Seven years of our experiences in CH screening program indicated that the etiology of CH in Isfahan, with a higher rate of CH, with a predominance of thyroid dyshormonogenesis is different from most of the studies world-wide and similar to other reports from Iran. The findings of the current study provide us baseline information for determination of CH pathogenesis in this region.

  8. [Multiple sclerosis: etiology, epidemiology, some questions of pathogenicity].

    Science.gov (United States)

    Chuprina, H M

    2012-01-01

    In the article the questions of ways of development of the dissipated sclerosis, as nosologies, are affected from the group of autoimmune diseases. Examined etiology, epidedemiologiya, separate links of pathogeny of the dissipated sclerosis. The analysis of multifaktors of his origin is conducted, with the detailed study of internal and external factors, marked on the important role of inherited predisposition, infectious and klimato-geograficheskogo factors in genesis of the dissipated sclerosis.

  9. Etiology, prevalence, and treatment of dry eye disease

    OpenAIRE

    Gayton, Johnny

    2009-01-01

    Johnny L GaytonEyesight Associates, Warner Robins, GA, USAPurpose: This review article examines the prevalence, etiology, and current therapies of dry eye disease, with special focus on postmenopausal women.Method: A systematic literature search utilizing MEDLINE was conducted to identify peer-reviewed articles related to dry eye published prior to September 2008. The terms “dry eye” and “women” were searched in combination with one or more of the follo...

  10. Etiology and Outcome of Chronic Kidney Disease in Iranian Children

    Directory of Open Access Journals (Sweden)

    Neamatollah Ataei

    2016-07-01

    Full Text Available Background Considering the significant geographical and ethnical differences in pattern of incidence, etiology and outcome of chronic kidney disease (CKD, the present study aimed to assess the etiology and outcome of CKD in Iranian children. Materials and Methods In a cross-sectional study etiology and outcome of 372 children aged 3 months to 18 years with CKD was studied during the period 1991 –2014. Children (186 boys, 186 girls with Stage 3 to 5 CKDs, defined as a glomerular filtration rate below 60 ml/min per 1.73 m2body surface area, were identified. Results Etiology was congenital anomalies of the kidney and urinary tract in 125 (33.60%, cystic/ hereditary/ congenital diseases in 91 (24.46%, glomerulopathy in 73(19.62%, and cause unknown in 71 (19.09% patients. Forty-eight (13.22% were on conservative treatment, 174(47.93% had end-stage renal disease (ESRD with chronic hemodialysis, 24 (6.61% were on continuous ambulatory peritoneal dialysis. Sixty-eight (18.74% underwent on renal transplant which was successful in 52 (14.33% patients but was associated with abnormal renal function in 16(4.41% children. Finally, 49 (13.50% patients died. Conclusion A large number of children developed CKD secondary to congenital anomalies of the kidney and urinary tract. Planning for screening, early detection and instituting timely treatment of preventable causes could lead to a lower incidence of CKD in this group of children.

  11. Postcoital Bleeding: A Review on Etiology, Diagnosis, and Management

    Directory of Open Access Journals (Sweden)

    Christopher M. Tarney

    2014-01-01

    Full Text Available Postcoital bleeding refers to spotting or bleeding that occurs after intercourse and is not related to menstruation. The prevalence of postcoital bleeding ranges from 0.7 to 9.0 percent of menstruating women. There are multiple etiologies for this common complaint in which most are benign such as cervicitis or cervical polyps. However, the most serious cause of postcoital bleeding is cervical cancer. There are currently no recommendations from governing bodies such as the American College of Obstetricians and Gynecologists on evaluating and treating women with postcoital bleeding. The purpose of this paper is to discuss the common causes of postcoital bleeding, the etiologies of postcoital bleeding, and the likelihood that malignancy is the underlying cause. After an extensive literature review, we compiled a paper illustrating the key concepts a practitioner should know when it comes to postcoital bleeding. Finally, this review will conclude with treatment options for women who are found to have an identifiable source for their bleeding and a discussion on the natural history of postcoital bleeding in women who are found to have no identifiable etiology on evaluation.

  12. Etiology of Acute Bacterial Meningitis in Iran: a Systematic Review.

    Science.gov (United States)

    Ghotaslou, Reza; Yeganeh-Sefidan, Fatemeh; Salahi-Eshlaqi, Behnaz; Ebrahimzadeh-Leylabadlo, Hamed

    2015-08-01

    Acute bacterial meningitis (ABM) is one of the most severe infectious diseases, causing neurologic sequel, and a case fatality rate of 20-30%. The aim of this paper was to summarize the main causes of ABM in Iran. We searched the data for relevant articles using meningitis, etiology, and Iran as search terms. We found 23 papers for inclusion in the review that focused specifically on the ABM, addressing etiology and acute meningitis. Finally, during the 23 years, a total of 18163 cases were recorded, and 1074 cases of which met the criteria for bacterial meningitis. The most common agent associated with bacterial meningitis was S. pneumoniae, followed by H. influenzae, Enterobacter spp., N. meningitidis, and group B streptococcus. The total incidence of ABM during 1991 to 2002 was higher than during 2003-2013. S. pneumoniae still remains a main cause of bacterial meningitis. For improved outcomes, studies are needed to further clarify the etiology of meningitis in Iran, explore simple, accurate, and practical diagnostic tools as PCR, and investigate the most appropriate specific and supportive interventions to manage and prevent meningitis as vaccination.

  13. Delinquent peer affiliation as an etiological moderator of childhood delinquency.

    Science.gov (United States)

    Burt, S A; Klump, K L

    2013-06-01

    Prior research has indicated that affiliation with delinquent peers activates genetic influences on delinquency during adolescence. However, because other studies have indicated that the socializing effects of delinquent peers vary dramatically across childhood and adolescence, it is unclear whether delinquent peer affiliation (DPA) also moderates genetic influences on delinquency during childhood. Method The current study sought to evaluate whether and how DPA moderated the etiology of delinquency in a sample of 726 child twins from the Michigan State University Twin Registry (MSUTR). The results robustly supported etiological moderation of childhood delinquency by DPA. However, this effect was observed for shared environmental, rather than genetic, influences. Shared environmental influences on delinquency were found to be several-fold larger in those with higher levels of DPA as compared to those with lower levels. This pattern of results persisted even when controlling for the overlap between delinquency and DPA. Our findings bolster prior work in suggesting that, during childhood, the association between DPA and delinquency is largely (although not solely) attributable to the effects of socialization as compared to selection. They also suggest that the process of etiological moderation is not specific to genetic influences. Latent environmental influences are also amenable to moderation by measured environmental factors.

  14. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

    Directory of Open Access Journals (Sweden)

    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  15. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.

    Science.gov (United States)

    Blazina, Štefan; Ihan, Alojz; Lovrečić, Luca; Hovnik, Tinka

    2016-12-01

    Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T-cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T-cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome. In addition to low IgM, IgG4, and B-cells, also low recent thymic emigrants, helper and naïve T-cells were found. We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T-cell dysfunction might be more prevalent than previously reported. Patients with infections consistent with T-cell defects should be classified as having combined immunodeficiency. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Etiologies and treatments of abnormal blinking in children

    Directory of Open Access Journals (Sweden)

    Fen Du

    2015-12-01

    Full Text Available AIM:To analyze the etiology and effective therapies of abnormal blinking in children. METHODS:Children with abnormal blinking in our hospital were collected into the study from July 2012 to July 2015. The etiologies and corresponding treatments, according to the result of interrogation and examination of eyes were analyzed and the therapeutic effect was observed. RESULTS:Totally, 5 561 cases were collected into the study including 4 025 cases of male, 1536 cases of female, and the ratio was 2.6:1; age range was 2~14 years old with average age was(6.9±0.6years old. Etiologies were as follows:refractive(hyperopia, myopia and astigmatism2054 cases(36.9%; allergic conjunctivitis 1670 cases(30.0%; children dry eyes 982 cases(17.7%; partial eclipse children with 605 cases(10.9%; lead pollution 590 care(10.6%; strabismus 156 cases(2.8%; trichiasis with 129 cases(2.3%; trace element deficiency(calcium, iron, zinc, magnesium and copperfor a total of 102 cases(1.8%; chalazion 37 cases(0.7%; keratitis and corneal injury 24 cases(0.4%, palpebral dermatitis, allergic rhinitis, dermatitis, 37 cases(0.7%; conjunctival stone 8 cases(0.1%; tic disorders of 30 patients(0.5%, asthenopia of 6 cases(0.1%; lacrimal duct obstruction, dacryocystitis 9 cases(0.1%. The etiologies of children with abnormal blinking were not caused by single factors. After examination, its etiology in children was resulted by one kind or more of a combination of factors. All of them were carried out ear acupoint application therapy and psychological intervention therapy, and symptomatic treatment was given after finding the cause. Following all the cases 1~3mo, blinking can obviously relieve,in which 4 560 cases(81.9%were cured, 5286 cares were improved, the recovery(including curedwas 95.1%; slightly improved(including relapse cases102 cases(1.8%; No significant changes in 173 cases(3.1%. CONCLUSION:A variety of causes that can lead to children's abnormal blinking, refractive error

  17. Etiology of convulsions in neonatal and infantile period.

    Science.gov (United States)

    Kurokawa, T; Yokata, K; Takashima, S; Nambu, Y; Hanai, T

    1976-01-01

    1) Etiology of convulsions starting prior to two years of age was discussed in 418 cases. Neonatal seizures before 30 days old appeared in 86 cases (53 boys and 33 girls). Three hundred and thirty-two patients (172 boys and 160 girls) had convulsions in infancy. Twelve patients (9 boys and 3 girls) suffered from convulsions both in neonatal and infantile period. 2)Etiology of convulsions was prenatal in 67 cases (16%), natal in 49 cases (12%), postnatal in 158 cases (38%) and unknown in 144 cases (34%). Prenatal factors consisted of cerebral malformation (23 cases, 6%), associated physical minor anomaly such as cataracta or finger abomaly (11 cases, 3%), abnormal pernatal history (8 cases, 2%), congenital heart disease 3) cases, 1%), tuberose scleorsis (7 cases, 2%) and positive family history (13 cases, 3%). Postnatal causes included hypocalcemia or hypoglycemia (7 cases, 2%), brain tumors (3 cases, 1%), breath-holding spells (21 cases, 5%), febrile convulsion (44 cases, 11%), bathing (3 cases, 1%), afebrile colds (3 cases, 1%), purulent meningitis (17 cases, 4%), DPT immunization (10 cases 2%), vaccination (7 cases, 2%) and acute hemiplegia (10 cases, 2%). The group of unknown etiology were as fns (38 cases, 9%), epilepsy associated with interictal signs (23 cases, 6%), benign infantile convulsions (57 cases, 14%), neonatal convulsion of unknown etiology (12 cases, 3%) and miscellaneous categories (4%). 3) Pregnancy was abnormal in 53% of cases with cerebral malformation. Asphyxia at birth was noted in 43% of patients with tuberose sclerosis and in 35% of congenital cerebral abomaly. 4) Pneumoencephalographic examinations revealed midline anomaly in 50% of cerebral malformation. It was abnormal in all cases with tuberose sclerosis, head injury and epilepsy with interseizure neurological signs. 5) There were no correlations between the seizure pattern and the etiology in neonatal convulsion. In infancy, focal-unilateral convulsions and infantile spasms were

  18. Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

    DEFF Research Database (Denmark)

    van Schaarenburg, Rosanne A; Schejbel, Lone; Truedsson, Lennart

    2015-01-01

    OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be...

  19. Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency.

    Science.gov (United States)

    Rivoisy, Claire; Gérard, Laurence; Boutboul, David; Malphettes, Marion; Fieschi, Claire; Durieu, Isabelle; Tron, François; Masseau, Agathe; Bordigoni, Pierre; Alric, Laurent; Haroche, Julien; Hoarau, Cyrille; Bérézné, Alice; Carmagnat, Maryvonnick; Mouillot, Gael; Oksenhendler, Eric

    2012-02-01

    The DEFI study has collected clinical data and biological specimens from kindreds with CVID. Patients with demonstrated parental consanguinity (cCVID group) were compared to patients without parental consanguinity (ncCVID). A total of 24 of the 436 patients with CVID had consanguineous parents. Age at first symptoms and age at diagnosis were comparable in the two groups. Some complications were more frequent in cCVID patients: splenomegaly (62.5% vs. 29%; p = 0.001), granulomatous disease (29% vs. 12%; p = 0.02), and bronchiectasis (58% vs. 29%; p = 0.003). A high incidence of opportunistic infections was also observed in this population (29% vs. 5%; p consanguinity is associated with an increased risk of developing severe clinical complications in patients with CVID. Most of these patients presented with severe T-cell abnormalities and should be considered with a diagnosis of late-onset combined immune deficiency (LOCID). Systematic investigation for parental consanguinity in patients with CVID provides useful information for specific clinical care and genetic screening.

  20. Morphological variability of Demodex cati in a feline immunodeficiency virus-positive cat.

    Science.gov (United States)

    Taffin, Elien R L; Casaert, Stijn; Claerebout, Edwin; Vandekerkhof, Thomas J J; Vandenabeele, Sophie

    2016-12-01

    CASE DESCRIPTION A 17-year-old FIV-positive cat was evaluated because of weight loss during the preceding few months. The cat had a weight loss of 0.5 kg (1.1 lb) during the last month. Because of its FIV-positive status, the cat was confined indoors. CLINICAL FINDINGS A large nonpruritic area of alopecia with hyperpigmentation and comedones was present on the right lateral aspect of the neck. The chin had diffuse alopecia and comedones. Mild alopecia was present on the dorsal aspect of the muzzle. Trichography and microscopic examination of acetate tape imprint preparations and skin scrapings revealed a very morphologically heterogeneous population of Demodex mites. Micrometry of adult mites revealed a broad range of body lengths (92.68 to 245.94 μm), which suggested that as many as 3 Demodex spp might be present in the skin lesions of this cat. TREATMENT AND OUTCOME Owing to its concurrent disease, no treatment was initiated for the demodicosis, and the cat died spontaneously 14 days after the evaluation. Sequence analysis of the 16S rRNA gene of collected mites was performed. Analysis revealed that the 16S rRNA gene sequence of collected mites appeared 100% identical to the Demodex cati 16S rRNA gene sequence deposited in GenBank (JX193759). A similarity of 79.2% and 74.4% was found when the 16S rRNA gene sequence of collected mites was compared with that of Demodex gatoi (JX981921) and Demodex felis (KF052995), respectively. CLINICAL RELEVANCE Demodicosis in cats is often associated with underlying disease. In cats, FIV infection may lead to an altered immune response and induce species polymorphism of Demodex mites.

  1. Enhanced levels of urokinase plasminogen activator and its soluble receptor in common variable immunodeficiency

    DEFF Research Database (Denmark)

    Fevang, Børre; Eugen-Olsen, Jesper; Yndestad, Arne

    2009-01-01

    receptor (uPAR, suPAR) have complex biological functions involving innate immune defense mechanisms and regulation of inflammation. Based on this dual role, we hypothesized that the uPA system could be affected in CVID, and examined expression of components of the uPA system in subgroups of CVID. All CVID...

  2. Functional analysis of lymphocytes from two patients affected by common variable immunodeficiency (CVI).

    Science.gov (United States)

    Iudicone, P; Girardi, E; Antimi, M; Buzzonetti, A; Guglielmetti, M; Martini, F; Giuliani, E; Quintiliani, L

    1989-01-01

    Two patients affected by severe hypogammaglobulinemia classified as CVI were studied. Both patients showed an increase in peripheral T cells and a normal or elevated number of surface immunoglobulin-bearing cells (sIg+); the T cell subsets showed a decrease of CD4 and an increment of CD8 cells with an inversion of the CD4/CD8 ratio. Patient peripheral blood mononuclear cells (PBMC) did not proliferate after Staphylococcus aureus Cowan I (SAC) activation. Moreover, patient PBMC were not able to differentiate into plaque - forming cells (PFC) either spontaneously or after pokeweed mitogen (PWM) stimulation. The immunoglobulin synthesis from patient PBMC stimulated in vitro by PWM was very little as compared to controls. When isolated patient B cells were cultured in the presence of exogenous B cell growth factor (BCGF) and BCGF plus anti-mu and anti-delta antibodies, no proliferation was observed. Taken together the results concerning B cell function of our CVI patients indicate the presence of an intrinsic defect of B cells. These cells are normal in number, but they are not able to leave the resting state, enter the activation state, proliferate and differentiate into Ig secreting cells. Moreover the alteration of the T cell subset proportions seems to suggest an impaired cooperation between B and T cells.

  3. Revisiting the Etiology of Hemifacial Microsomia / Retomando la etiología de la microsomía hemifacial

    OpenAIRE

    Eseonu, Chijioke O.; University of Pittsburgh / Pontificia Universidad Javeriana; Vieira, Alexandre R.; University of Pittsburgh

    2014-01-01

    Background: Hemifacial microsomia (HM) is one of the most common congenital facial malformations of newborns worldwide. Despite its prevalence, little is known about its etiology. Features of HM vary among different reports in the literature, affecting ears, mouth, and mandible on one or both sides. Purpose and Methods: We performed a systematic literature review to determine if there is new evidence regarding the pathological origins of HM. During a seven-month period (September 2010-April 2...

  4. The response to Typhi Vi vaccination is compromised in individuals with primary immunodeficiency

    Directory of Open Access Journals (Sweden)

    Jeevani Kumarage

    2017-06-01

    Full Text Available Measurement of an individuals ability to respond to polysaccharide antigens is a crucial test to determine adaptive immunity. Currently the response to Pneumovax® is utilized but with the success of Prevnar®, measurement of the response to Pneumovax may be challenging. The aim of the study was to assess the response to Typhi Vi vaccination in both children and adult control groups and patients with primary immunodeficiency (PID. In the control groups, >95% of the individuals had pre Typhi Vi vaccination concentrations 94% achieving ≥3 fold increase in concentration (FI. The response to Typhi Vi vaccination was significantly lower in both children (p = 0.006 and adult (p = 0.002 PID groups when compared to their control groups. 11% and 55% of the children and adult PID groups respectively did not obtain a response >3FI. There were no significant differences between the responses obtained in the children and adult PID groups. When all individuals with PID were separated into those with either hypogammaglobulinemia (HYPO or common variable immunodeficiency (CVID, both groups had a significantly lower median FI than the control group (19, 95%CI 5–56 vs 59, 95%CI 7–237; p = 0.01 and 1, 95%CI 1–56 vs 32, 95%CI 5–136; p = 0.005. Further, a >3FI differentiated the antibody responses between both the CVID and HYPO groups and their control groups (AUC: 0.83, 95%CI: 0.65–1.00, p = 0.005 and 0.81, 95% CI: 0.65–0.97, p = 0.01. The data suggests that measurement of the response to Typhi Vi vaccination could represent a complementary assay for the assessment of the response to a polysaccharide vaccine.

  5. Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives

    National Research Council Canada - National Science Library

    Errante, Paolo Ruggero; Franco, José Luis; Espinosa‐Rosales, Francisco Javier; Sorensen, Ricardo; Condino‐Neto, Antonio

    2012-01-01

    .... The Latin American Society for Immunodeficiencies was established as an organization dedicated to provide scientific support for basic and clinical research and to develop tools and educational...

  6. Protein microarrays: a new tool for the study of autoantibodies in immunodeficiency

    Directory of Open Access Journals (Sweden)

    Jacob Michael Rosenberg

    2015-04-01

    Full Text Available Autoimmunity is highly coincident with immunodeficiency. In a small but growing number of primary immunodeficiencies, autoantibodies are diagnostic of a given disease and implicated in disease pathogenesis. In order to best gain an understanding of the role of autoantibodies in immunodeficiencies and to discover novel autoantibodies, new proteomic tools are needed. Protein microarrays have the ability to screen for reactivity to hundreds to many thousands of unique autoantigens simultaneously on a single chip using minimal serum input. Here, we review the different types of protein microarrays and how they can be useful in framing the study of primary and secondary immunodeficiencies.

  7. Genetic and Environmental Etiologies of the Longitudinal Relations between Pre-reading Skills and Reading

    Science.gov (United States)

    Christopher, Micaela E.; Hulslander, Jacqueline; Byrne, Brian; Samuelsson, Stefan; Keenan, Janice M.; Pennington, Bruce; DeFries, John C.; Wadsworth, Sally J.; Willcutt, Erik; Olson, Richard K.

    2014-01-01

    The present study explored the environmental and genetic etiologies of the longitudinal relations between pre-reading skills and reading and spelling. Twin pairs (n = 489) were assessed before kindergarten (M = 4.9 years), post-1st grade (M = 7.4 years), and post-4th grade (M = 10.4 years). Genetic influences on five pre-reading skills (print knowledge, rapid naming, phonological awareness, vocabulary, and verbal memory) were primarily responsible for relations with word reading and spelling. However, relations with post-4th-grade reading comprehension were due both to genetic and shared environmental influences. Genetic and shared environmental influences that were common among the pre-reading variables covaried with reading and spelling, as did genetic influences unique to verbal memory (only post-4th-grade comprehension), print knowledge, and rapid naming. PMID:25263167

  8. The role of child sexual abuse in the etiology of substance-related disorders.

    Science.gov (United States)

    Maniglio, Roberto

    2011-01-01

    To elucidate the role of child sexual abuse in the etiology of substance-related disorders, a systematic review of the several articles on the childhood sexual abuse-related risk for developing substance problems in adolescence or adulthood is provided. Seven databases were searched, supplemented with hand-search of reference lists. Six reviews, including 200 studies, were included. Results indicate that child sexual abuse is a statistically significant, although general and nonspecific, risk factor for substance problems. Other biological and psychosocial variables contribute to substance-related disorders, with sexual abuse conferring additional risk, either as a distal, indirect cause or as a proximal, direct cause. Recommendations for future research are provided.

  9. Are eating disorders culture-bound syndromes? Implications for conceptualizing their etiology.

    Science.gov (United States)

    Keel, Pamela K; Klump, Kelly L

    2003-09-01

    The authors explore the extent to which eating disorders, specifically anorexia nervosa (AN) and bulimia nervosa (BN), represent culture-bound syndromes and discuss implications for conceptualizing the role genes play in their etiology. The examination is divided into 3 sections: a quantitative meta-analysis of changes in incidence rates since the formal recognition of AN and BN, a qualitative summary of historical evidence of eating disorders before their formal recognition, and an evaluation of the presence of these disorders in non-Western cultures. Findings suggest that BN is a culture-bound syndrome and AN is not. Thus, heritability estimates for BN may show greater variability cross-culturally than heritability estimates for AN, and the genetic bases of these disorders may be associated with differential pathoplasticity.

  10. Anemia do lactente: etiologia e prevalência Anemia in infancy: etiology and prevalence

    Directory of Open Access Journals (Sweden)

    Maria Claret C.M. Hadler

    2002-01-01

    Full Text Available Objetivo: verificar a prevalência de anemia, anemia ferropriva e deficiência de ferro em lactentes, de unidade pública de saúde, no município de Goiânia, Brasil, analisar e correlacionar as variáveis bioquímicas e hematológicas. Métodos: realizou-se estudo transversal. De 120 mães entrevistadas, foram incluídos 110 lactentes de 6 a 12 meses de idade, a termo e não gemelares. Dados socioeconômicos e hematológicos foram obtidos. Colheu-se sangue venoso dos lactentes em jejum para realização do hemograma completo por contagem eletrônica, ferro sérico, ferritina sérica e proteína C-reativa, os quais foram utilizados na avaliação da etiologia ferropriva nos anêmicos. Crianças com hemoglobina Objective: To verify the prevalence of anemia, iron deficiency anemia and iron deficiency in infants, at a Public Health Unit in the city of Goiânia - Brazil; to analyze and to correlate the hematologic and biochemical variables. Methods: A cross-sectional study was carried out. One hundred and ten full-term infants of the 120 mothers interviewed were included. The infants aged between six and twelve months and there were not twins. Socioeconomic and hematologic data was obtained. Venous blood was taken from fasting infants in order to carry out a complete hemogram through electronic cell counting, serum iron, serum ferritin and C-reactive protein, which were used in the evaluation of the etiology of iron deficiency in the anemic infants. Children with hemoglobin < 11g/dL were considered anemic. Results: The prevalence of anemia was 60.9%. In the diagnosis of the iron deficiency etiology in infants without an inflammation process, when considering the alteration of hemoglobin plus two more indices among mean corpuscular volume (MCV or mean corpuscular hemoglobin (MCH or serum ferritin or serum iron, the prevalence of the iron deficiency was 87%. Nevertheless, when red cell distribution width (RDW was included in the indices, the

  11. Pediatric Kawasaki Disease and Adult Human Immunodeficiency Virus Kawasaki-Like Syndrome Are Likely the Same Malady.

    Science.gov (United States)

    Johnson, Raymond M; Bergmann, Kelly R; Manaloor, John J; Yu, Xiaoqing; Slaven, James E; Kharbanda, Anupam B

    2016-09-01

    Background.  Pediatric Kawasaki disease (KD) and human immunodeficiency virus (HIV) + adult Kawasaki-like syndrome (KLS) are dramatic vasculitides with similar physical findings. Both syndromes include unusual arterial histopathology with immunoglobulin (Ig)A + plasma cells, and both impressively respond to pooled Ig therapy. Their distinctive presentations, histopathology, and therapeutic response suggest a common etiology. Because blood is in immediate contact with inflamed arteries, we investigated whether KD and KLS share an inflammatory signature in serum. Methods.  A custom multiplex enzyme-linked immunosorbent assay (ELISA) defined the serum cytokine milieu in 2 adults with KLS during acute and convalescent phases, with asymptomatic HIV + subjects not taking antiretroviral therapy serving as controls. We then prospectively collected serum and plasma samples from children hospitalized with KD, unrelated febrile illnesses, and noninfectious conditions, analyzing them with a custom multiplex ELISA based on the KLS data. Results.  Patients with KLS and KD subjects shared an inflammatory signature including acute-phase reactants reflecting tumor necrosis factor (TNF)-α biologic activity (soluble TNF receptor I/II) and endothelial/smooth muscle chemokines Ccl1 (Th2), Ccl2 (vascular inflammation), and Cxcl11 (plasma cell recruitment). Ccl1 was specifically elevated in KD versus febrile controls, suggesting a unique relationship between Ccl1 and KD/KLS pathogenesis. Conclusions.  This study defines a KD/KLS inflammatory signature mirroring a dysfunctional response likely to a common etiologic agent. The KD/KLS inflammatory signature based on elevated acute-phase reactants and specific endothelial/smooth muscle chemokines was able to identify KD subjects versus febrile controls, and it may serve as a practicable diagnostic test for KD.

  12. Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Toshio Inui

    2017-07-01

    Full Text Available Previous models or hypotheses of autism spectral disorder (ASD failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5, and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5. In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD. In the model, we assumed the following joint causes as the etiology of autism: (1 Hypoplasia of the pons in the brainstem, occurring immediately following neural tube closure; and (2 Deficiency in the GABA (γ-aminobutyric acid developmental switch during the perinatal period. Microstructural abnormalities of the pons directly affect both the structural and functional development of the brain areas strongly connected to it, especially amygdala. The impairment of GABA switch could not only lead to the deterioration of inhibitory processing in the neural network, but could also cause abnormal cytoarchitecture. We introduced a perspective that atypical development in both brain structure and function can give full explanation of diverse phenotypes and pathogenetic mechanism of ASD. Finally, we discussed about neural mechanisms underlying the phenotypic characteristics of ASD that are not described in DSM-5 but should be considered as important foundation: sleep, global precedence, categorical perception, intelligence, interoception and motor control.

  13. [Progression of tumors: etiologic, morphologic and molecular-biological aspects].

    Science.gov (United States)

    Turosov, V S

    1992-01-01

    Two aspects can be distinguished in multistage carcinogenesis: etiological one (every stage is induced by a specific for this stage agent) and morphobiological aspect (every stage is characterized by specific morphological, genetic and other properties). The schema of the multistage carcinogenesis is presented in which morphological stages (diffuse and focal hyperplasia, benign tumours, dysplasia, carcinoma in situ, various phases of malignant tumour progression) are placed against genetic alterations. L. Foulds concept of tumour progression is discussed with special emphasis on precancerous stages, possibilities of cancer development de novo, and independent progression of different tumour characters. The following types of carcinogenesis are listed on the basis of interrelationship between etiological and genetic factors: 1) carcinogenesis induced by genotoxic agents; a) one agent is acting at high dose and for a long time thus ensuring the activation of protooncogenes and all stages of tumour progression (initiation, promotion, various phases of malignant tumour); b) those acting during a very short time, however sufficient for developing the genetic program working automatically without further exposure to known carcinogens (irradiation in case of the atomic bomb explosion or effect of short-living alkylating agents): in this case there is no stage of promotion; 2) carcinogenesis by non-genotoxic carcinogens (their mode of action is still unclear, the only human example is carcinogenesis by hormones); 3) development of tumours in frane of the two (or three) stage carcinogenesis when every stage is provoked by its own etiological factor, no human examples are known as yet; 4) development of tumours due to the genetic mechanism making the organism highly susceptible to the minimal doses of carcinogens as is the case with skin cancer by ultraviolet light in patients with xeroderma pigmentosum, the genetic damage in itself has nothing to do with tumour formation; 5

  14. Etiology of Pericarditis in a Prospective Cohort of 1162 Cases.

    Science.gov (United States)

    Gouriet, Frédérique; Levy, Pierre-Yves; Casalta, Jean-Paul; Zandotti, Christine; Collart, Frédéric; Lepidi, Hubert; Cautela, Jennifer; Bonnet, Jean Louis; Thuny, Franck; Habib, Gilbert; Raoult, Didier

    2015-07-01

    Pericarditis is a common disorder that is present in various pathologies and may be the first manifestation of an underlying systemic disease. The aims of this study were to describe the different causes of infectious and noninfectious pericarditis and compare them with those in the literature. Between May 2007 and September 2012, we prospectively evaluated a strategy using a systematic prescription of tests for the different etiological causes of pericarditis in patients with acute pericarditis who were hospitalized in the Cardiology and Cardiac Surgery Department or admitted to the Emergency Department (University Hospital of Marseille). A total of 1162 patients with suspected pericarditis were included. A standardized diagnosis procedure was performed for 800 patients, and 362 had pericardiocentesis. Acute pericarditis was diagnosed in 933 patients. No diagnosis was established in 516 patients (55%), 197 patients suffered from postinjury syndromes, and 156 had previously known diseases that were associated with pericarditis. Our survey allowed us to relate the probable cause of pericarditis in 64 cases. An infectious etiological diagnosis was established in 53 cases. In our study, postinjury syndrome was the leading cause of pericarditis, a new diagnosis was made in 6.7% of cases, and 16% of the diagnoses were linked to a secondary, underlying disease. Using this strategy, we were able to reduce the number of idiopathic cases. In many cases, the etiologies were still identified. Long-term follow-up in the management of idiopathic pericarditis should remain of great interest for the future diagnosis of other disorders that remain hidden. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Etiology and Therapeutic Approach to Elevated Lactate Levels

    DEFF Research Database (Denmark)

    Wiuff Andersen, Lars; Mackenhauer, Julie; Roberts, Jonathan C

    2013-01-01

    . Clinicians need to be aware of the many potential causes of lactate level elevation as the clinical and prognostic importance of an elevated lactate level varies widely by disease state. Moreover, specific therapy may need to be tailored to the underlying cause of elevation. The present review is based......, and medication. We provide an overview of the pathogenesis of lactate level elevation followed by an in-depth look at the varied etiologies, including medication-related causes. The strengths and weaknesses of lactate as a diagnostic/prognostic tool and its potential use as a clinical end point of resuscitation...

  16. An etiological dilemma in osteomyelitis: A case report

    Directory of Open Access Journals (Sweden)

    Aparna Muraleedharan

    2015-01-01

    Full Text Available Osteomyelitis is an acute or chronic inflammatory process that can involve cortical and trabecular aspects of bone or bone marrow. This case report describes an interesting presentation of chronic suppurative osteomyelitis in a 22-year-old male patient who visited the dental clinic with a chief complaint of facial asymmetry and esthetic concern only. The history, examination, radiographic and histopathological investigations contributed to the diagnosis of chronic suppurative osteomyelitis; however, the etiology remained a dilemma. Treatment included surgical debridement and curettage followed by antibiotics.

  17. ?Suspects? in Etiology of Endemic Nephropathy: Aristolochic Acid versus Mycotoxins

    OpenAIRE

    Pepeljnjak, Stjepan; Klari?, Maja ?egvi?

    2010-01-01

    Despite many hypotheses that have been challenged, the etiology of endemic nephropathy (EN) is still unknown. At present, the implications of aristolochic acid (AA) and mycotoxins (ochratoxin A—OTA and citrinin—CIT) are under debate. AA-theory is based on renal pathohistological similarities between Chinese herbs nephropathy (CHN) and EN, findings of AA-DNA adducts in EN and in patients with urinary tract tumors (UTT), as well as the domination of A:T→T:A transversions in the p53 mutational s...

  18. Adult Astrogenesis and the Etiology of Cortical Neurodegeneration

    Directory of Open Access Journals (Sweden)

    Tal C. Mohn

    2015-01-01

    Full Text Available As more evidence points to a clear role for astrocytes in synaptic processing, synaptogenesis and cognition, continuing research on astrocytic function could lead to strategies for neurodegenerative disease prevention. Reactive astrogliosis results in astrocyte proliferation early in injury and disease states and is considered neuroprotective, indicating a role for astrocytes in disease etiology. This review describes the different types of human cortical astrocytes and the current evidence regarding adult cortical astrogenesis in injury and degenerative disease. A role for disrupted astrogenesis as a cause of cortical degeneration, with a focus on the tauopathies and synucleinopathies, will also be considered.

  19. Renal infarct: a rare disease due to a rare etiology

    Science.gov (United States)

    Akshintala, Divya; Bansal, Saurabh K.; Emani, Vamsi Krishna; Yadav, Manajyoti

    2015-01-01

    Renal infarction is caused by profound hypoperfusion secondary to embolic/thrombotic occlusion of the renal artery or vasospasm of the renal artery. We present a case of a 54-year-old patient who presented with nausea, vomiting, and vague abdominal pain. He had frequent episodes of migraine headaches and he treated himself with as needed rizatriptan. CT scan of the abdomen showed renal cortical infarction. After extensive investigations, etiology of his renal infarct was deemed to be due to rizatriptan. PMID:26091657

  20. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation.

    Science.gov (United States)

    Varol, Sefer; Ozdemir, Hasan Huseyin; Akil, Esref; Arslan, Demet; Aluclu, M Ufuk; Demir, Caner F; Yucel, Yavuz

    2015-12-01

    Facial diplegia (FD) is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. The study was performed retrospectively and included 17 patients with a diagnosis of FD. Patients were diagnosed with Guillain-Barré syndrome (GBS) (11), Bickerstaff's brainstem encephalitis (1), neurosarcoidosis (1), non-Hodgkin's Lymphoma (1), tuberculous meningitis (1) herpes simplex reactivation (1) and idiopathic (1). In addition, two patients had developed FD during pregnancy. Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.