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  1. Article ; Online: Duplication of Exons 8-9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease.

    Venancio Hernández, Marco Antonio / Sanchez Flores, Carlos / Jiménez Juárez, María / Blancas Galicia, Lizbeth

    Journal of clinical immunology

    2023  Volume 44, Issue 1, Page(s) 14

    MeSH term(s) Humans ; Granulomatous Disease, Chronic/diagnosis ; Granulomatous Disease, Chronic/genetics ; Penetrance ; NADPH Oxidases/genetics ; Neutrophils ; Exons ; Mutation/genetics
    Chemical Substances NADPH Oxidases (EC 1.6.3.-) ; NCF2 protein, human (EC 1.6.3.1)
    Language English
    Publishing date 2023-12-22
    Publishing country Netherlands
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01624-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Abordaje diagnóstico del asma difícil de tratar y asma grave.

    Venancio-Hernández, Marco / Mendieta-Flores, Elizabeth / Mendiola-Marín, Jeannette / Alaniz-Flores, Angélica Kathya / Reyes-Arellano, Mireya

    Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)

    2022  Volume 69 Suppl 1, Page(s) s94–s111

    Abstract: Difficult-to-treat asthma refers to asthma that is not controlled despite high or medium doses of inhaled steroids or in which high doses of treatment are required to maintain an adequate control of the symptoms and to reduce the risk of exacerbations. ... ...

    Title translation The diagnostic approach to difficult-to-treat asthma and severe asthma.
    Abstract Difficult-to-treat asthma refers to asthma that is not controlled despite high or medium doses of inhaled steroids or in which high doses of treatment are required to maintain an adequate control of the symptoms and to reduce the risk of exacerbations. An inadequate technique to use the inhaler, poor adherence to treatment, smoking, comorbidities, or an incorrect diagnosis should be considered. In severe asthma, despite adherence to treatment with optimized maximum doses and the management of factors that could contribute, multiple medications in maximum doses are required to have an adequate therapeutic control or this is not achieved. The approach to these patients involves a meticulous process due to the multiple factors that can influence poor asthma control and that can lead to a misclassification of the disease when, in reality, the patient can be presenting different comorbidities whose treatment could decrease the severity of asthma symptoms and modify the prognosis. The objective of this document is to make the approach to patients with difficult-to-treat asthma and severe asthma known, as well as the most frequent comorbidities. A search was made in PubMed with the purpose of identifying the main pathologies that may be present in patients and, based on what is described in the literature, to propose a diagnostic approach. 100 studies were comprised in this review, including clinical guidelines such as GINA, GEMA, and ERS/ATS.
    MeSH term(s) Administration, Inhalation ; Anti-Asthmatic Agents/therapeutic use ; Asthma/diagnosis ; Asthma/drug therapy ; Asthma/epidemiology ; Comorbidity ; Humans
    Chemical Substances Anti-Asthmatic Agents
    Language Spanish
    Publishing date 2022-01-05
    Publishing country Mexico
    Document type Journal Article ; Review
    ZDB-ID 639125-4
    ISSN 0002-5151
    ISSN 0002-5151
    DOI 10.29262/ram.v69iSupl1.1046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Síndrome hipereosinofílico como presentación paraneoplásica en una adolescente.

    Arias-Martínez, Isabel / Venancio-Hernández, Marco

    Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)

    2013  Volume 60, Issue 4, Page(s) 193–197

    Abstract: Hypereosinophilic syndrome is characterized by peripheral eosinophilia over 1,500 cell/mm3 and/or tissue eosinophilia, with dysfunction or damage to organ, once other causes were ruled out. This paper presents a case of hypereosinophilic syndrome (HS) ... ...

    Title translation Hypereosinophilic syndrome as paraneoplastic presentation in an adolescent.
    Abstract Hypereosinophilic syndrome is characterized by peripheral eosinophilia over 1,500 cell/mm3 and/or tissue eosinophilia, with dysfunction or damage to organ, once other causes were ruled out. This paper presents a case of hypereosinophilic syndrome (HS) which presented as lymphoblastic leukemia in a teenager. This is a 13 year old female, with B cell lymphoblastic leukemia at 9 years old, who received chemotherapy for 2 years achieving remission. One year after remission she presented malar rash, hair loss, arthralgias, conjuntival redness, dyspnea and thoracic oppression. The initial blood count only showed hypereosinophilia, and a bone marrow biopsy did not show blasts and had a negative immunophenotyping. Autoantibodies were negative, except for ANA (1:1,280 in one determination after one negative), complement was normal, lupic band in skin was negative for complement and immunoglobulins; serum IgG 2,195 mg/dL, IgA 231, IgM 327, IgE 109 U/mL; skin testing for aeroallergens and food allergens were negative. Prednisone was started at 1 mg/kg. Abdominal ultrasound only reported biliary sludge flow and hepatosplenomegaly; chest tomography showed centrolobullar interstitial pattern, suggesting eosinophilic pneumonitis. The patient started with a generalized dermatosis, and a biopsy reported leucocytoclastic vasculitis. Six months after the onset of symptomatology there were generalized malaise, uncontrolled fever, gingival haemorrhage, asthenia and adynamia; a blood cell count reported blasts, and bone marrow smear confirmed the diagnosis of cell B lymphoblastic leukemia. The patient deteriorated rapidly showing signs of respiratory difficulty and acute pulmonary edema, therefore chemotherapy was started without response, and finally the patient died. There are several causes of HS, yet one of the least frequent presentations in childhood is the association with neoplasms.
    MeSH term(s) Adolescent ; Autoimmune Diseases/diagnosis ; Diagnosis, Differential ; Fatal Outcome ; Female ; Gastrointestinal Hemorrhage/etiology ; Humans ; Hypereosinophilic Syndrome/diagnosis ; Hypereosinophilic Syndrome/etiology ; Paraneoplastic Syndromes/etiology ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/complications ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Pulmonary Edema/etiology ; Pulmonary Eosinophilia/etiology ; Recurrence ; Vasculitis, Leukocytoclastic, Cutaneous/etiology
    Language Spanish
    Publishing date 2013-10
    Publishing country Mexico
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 639125-4
    ISSN 0002-5151
    ISSN 0002-5151
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  4. Article ; Online: Effect of cigarette smoke on counts of immunoreactive cells to eotaxin-1 and eosinophils on the nasal mucosa in young patients with perennial allergic rhinitis.

    Montaño-Velázquez, Bertha Beatriz / Flores-Rojas, Eulalia Beatriz / García-Vázquez, Francisco Javier / Jurado-Hernandez, Silvio / Venancio Hernández, Marco Antonio / Alanis Flores, Angélica Kathya / Jáuregui-Renaud, Kathrine

    Brazilian journal of otorhinolaryngology

    2016  Volume 83, Issue 4, Page(s) 420–425

    Abstract: Introduction: In teenagers with perennial allergic rhinitis, exposure to tobacco cigarette smoke increases the count of eosinophils in the nasal mucosa; the recruitment of eosinophils arises from the combined action of a number of cellular and molecular ...

    Abstract Introduction: In teenagers with perennial allergic rhinitis, exposure to tobacco cigarette smoke increases the count of eosinophils in the nasal mucosa; the recruitment of eosinophils arises from the combined action of a number of cellular and molecular signals, including eotaxin.
    Objective: To assess the effect of exposure to tobacco cigarette smoke on the count of immunoreactive cells to eotaxin-1 and eosinophils on the nasal mucosa of children and teenagers with perennial allergic rhinitis.
    Methods: In a cross-sectional study, forty-four patients were evaluated (aged 7-19 years old): 22 with and 22 with no exposure to tobacco cigarette smoke. After replying to 2 validated questionnaires, on Asthma and Allergies in Childhood and on the severity of nasal symptoms, nasal mucosal samples were obtained by scraping the middle one-third of the inferior turbinates. Then counts of immunoreactive cells to eotaxin-1 and eosinophils were assessed by immunohistochemistry.
    Results: Patients with exposure to tobacco cigarette smoke showed higher cell counts of both eotaxin-1 and eosinophils than patients with no exposure to the smoke, with no correlation between the two variables. However, both counts, of eotaxin-1 and eosinophils, were related to the cotinine/creatinine ratio.
    Conclusions: Exposure to tobacco cigarette smoke can increase eotaxin-1 and the count of eosinophils in the nasal mucosa of young patients with perennial allergic rhinitis.
    MeSH term(s) Adolescent ; Adult ; Cell Count ; Chemokine CCL11/analysis ; Chemokine CCL11/immunology ; Child ; Cross-Sectional Studies ; Eosinophils/cytology ; Eosinophils/immunology ; Female ; Humans ; Immunohistochemistry ; Male ; Nasal Mucosa/chemistry ; Nasal Mucosa/cytology ; Nasal Mucosa/immunology ; Rhinitis, Allergic, Seasonal/immunology ; Rhinitis, Allergic, Seasonal/pathology ; Severity of Illness Index ; Tobacco Smoke Pollution/adverse effects ; Young Adult
    Chemical Substances Chemokine CCL11 ; Tobacco Smoke Pollution
    Language English
    Publishing date 2016-05-19
    Publishing country Brazil
    Document type Journal Article
    ZDB-ID 2428110-4
    ISSN 1808-8686 ; 1808-8694
    ISSN (online) 1808-8686
    ISSN 1808-8694
    DOI 10.1016/j.bjorl.2016.04.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

    Blancas-Galicia, Lizbeth / Santos-Chávez, Eros / Deswarte, Caroline / Mignac, Quentin / Medina-Vera, Isabel / León-Lara, Ximena / Roynard, Manon / Scheffler-Mendoza, Selma C / Rioja-Valencia, Ricardo / Alvirde-Ayala, Alexandra / Lugo Reyes, Saul O / Staines-Boone, Tamara / García-Campos, Jorge / Saucedo-Ramírez, Omar J / Del-Río Navarro, Blanca E / Zamora-Chávez, Antonio / López-Larios, Arturo / García-Pavón-Osorio, Susana / Melgoza-Arcos, Eugenia /
    Canseco-Raymundo, María R / Mogica-Martínez, Dolores / Venancio-Hernández, Marco / Pacheco-Rosas, Daniel / Pedraza-Sánchez, Sigifredo / Guevara-Cruz, Martha / Saracho-Weber, Federico / Gámez-González, Berenise / Wakida-Kuzunoki, Guillermo / Morán-Mendoza, Ana R / Macías-Robles, Ana P / Ramírez-Rivera, Roselia / Vargas-Camaño, Eugenia / Zarate-Hernández, Carmen / Gómez-Tello, Héctor / Ramírez-Sánchez, Emmanuel / Ruíz-Hernández, Fredy / Ramos-López, Domingo / Acuña-Martínez, Héctor / García-Cruz, María L / Román-Jiménez, María G / González-Villarreal, Marina G / Álvarez-Cardona, Aristóteles / Llamas-Guillén, Beatriz A / Cuellar-Rodríguez, Jennifer / Olaya-Vargas, Alberto / Ramírez-Uribe, Nideshda / Boisson-Dupuis, Stéphanie / Casanova, Jean-Laurent / Espinosa-Rosales, Francisco J / Serafín-López, Jeanet / Yamazaki-Nakashimada, Marco / Espinosa-Padilla, Sara / Bustamante, Jacinta

    Journal of clinical immunology

    2020  Volume 40, Issue 3, Page(s) 475–493

    Abstract: Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD ... ...

    Abstract Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019.
    Methods: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds.
    Results: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations.
    Conclusions: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.
    MeSH term(s) Adolescent ; Autoimmunity ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genes, X-Linked ; Granulomatous Disease, Chronic/epidemiology ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/immunology ; Humans ; Infant ; Infant, Newborn ; Inflammation ; Male ; Mexico/epidemiology ; Mutation/genetics ; Mycobacterium/physiology ; Mycobacterium Infections/epidemiology ; NADPH Oxidase 2/genetics ; NADPH Oxidases/genetics
    Chemical Substances CYBB protein, human (EC 1.6.3.-) ; NADPH Oxidase 2 (EC 1.6.3.-) ; NADPH Oxidases (EC 1.6.3.-) ; NCF2 protein, human (EC 1.6.3.1) ; neutrophil cytosolic factor 1 (EC 1.6.3.1)
    Language English
    Publishing date 2020-02-10
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-020-00750-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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