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  1. Book ; Online: Chapter Integrative Systems Biology Resources and Approaches in Disease Analytics

    Fernandes, Marco / Husi, Holger

    2019  

    Keywords Medical bioinformatics ; systems medicine, bioinformatics, omics, data integration, pathway analysis
    Size 1 Online-Ressource
    Publisher InTechOpen
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021047876
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis.

    Mendes Ferreira, Vítor / Caetano, André / Santos, Luís / Fernandes, Marco

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2024  

    Language English
    Publishing date 2024-05-02
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-024-07542-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article ; Online: ORA , FCS , and PT Strategies in Functional Enrichment Analysis.

    Fernandes, Marco / Husi, Holger

    Methods in molecular biology (Clifton, N.J.)

    2021  Volume 2361, Page(s) 163–178

    Abstract: Downstream analysis of OMICS data requires interpretation of many molecular components considering current biological knowledge. Most tools used at present for functional enrichment analysis workflows applied to the field of proteomics are either ... ...

    Abstract Downstream analysis of OMICS data requires interpretation of many molecular components considering current biological knowledge. Most tools used at present for functional enrichment analysis workflows applied to the field of proteomics are either borrowed or have been modified from genomics workflows to accommodate proteomics data. While the field of proteomics data analytics is evolving, as is the case for molecular annotation coverage, one can expect the rise of enhanced databases with less redundant ontologies spanning many elements of the tree of life. The methodology described here shows in practical steps how to perform overrepresentation analysis, functional class scoring, and pathway-topology analysis using a preexisting neurological dataset of proteomic data.
    MeSH term(s) Genomics ; Proteomics
    Language English
    Publishing date 2021-07-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1940-6029
    ISSN (online) 1940-6029
    DOI 10.1007/978-1-0716-1641-3_10
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: A Case Report on Metamizole-Induced Agranulocytosis: Is the Benefit Worth the Risk?

    Carvalho, Rita / Henriques, Célia / Fernandes, Marco / Gouveia, Cláudio / Gama, Catarina

    Cureus

    2023  Volume 15, Issue 1, Page(s) e34467

    Abstract: Metamizole is a drug with analgesic and antipyretic properties widely available in Portugal. Its use is highly controversial because of the risk of agranulocytosis, a rare but serious adverse event. A 70-year-old female patient with a recent history of ... ...

    Abstract Metamizole is a drug with analgesic and antipyretic properties widely available in Portugal. Its use is highly controversial because of the risk of agranulocytosis, a rare but serious adverse event. A 70-year-old female patient with a recent history of treatment with metamizole for post-surgery fever and pain presented to the ED with sustained fever, diarrhea, and painful mouth ulcers. Laboratory tests revealed agranulocytosis. The patient was placed under protective isolation and started treatment with granulocyte-colony stimulating factor (G-CSF) and empiric antibiotic therapy with piperacillin/tazobactam and vancomycin for neutropenic fever. After an extensive workup, no source of infection was identified. During hospitalization, infectious and neoplastic causes of agranulocytosis were investigated, but the results were negative. Metamizole-induced agranulocytosis was suspected. The patient completed a total of three days of G-CSF and eight days of empiric antibiotic therapy with sustained clinical improvement. She was discharged completely asymptomatic and remained clinically stable during follow-up without a resurgence of agranulocytosis. This case report is intended to increase awareness of metamizole-induced agranulocytosis. While this is a well-known side effect, it is also often overlooked. It is paramount that both physicians and patients know how to correctly manage metamizole to prevent and promptly treat agranulocytosis.
    Language English
    Publishing date 2023-01-31
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.34467
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Overheating risk in Mediterranean residential buildings: Comparison of current and future climate scenarios

    Rodrigues, Eugénio / Fernandes, Marco S

    Applied energy. 2020 Feb. 01, v. 259

    2020  

    Abstract: One of the effects of climate change is global warming, which will increase cooling demand in buildings. However, scientific literature does not show consensus on the risk of highly insulated buildings being prone to overheating. This paper presents a ... ...

    Abstract One of the effects of climate change is global warming, which will increase cooling demand in buildings. However, scientific literature does not show consensus on the risk of highly insulated buildings being prone to overheating. This paper presents a statistical comparison of two synthetic datasets for current and future climates in sixteen Mediterranean locations. The weather data for the 2050 climate projection was generated by ‘morphing’ current weather data. The buildings were created using a generative design method to produce random geometries and random U-values for the envelope elements. Energy performance was evaluated using dynamic simulation. In addition to the expected general increase in cooling demand (up to 137 %) and a smaller reduction in heating demand (up to 63 %), the results demonstrate that the ideal U-values used in the current climate in almost all of the locations will not cause overheating. In several cases, the decrease of the U-values is even recommended for Podgorica, Valencia, Tunis, Malaga, Larnaca, and Alexandria, as the reduction of heating demand compensates the increase of cooling demand. Casablanca was the only location showing an increase in the ideal U-values, thus presenting risk of overheating if using current ideal U-values.
    Keywords buildings ; climate ; cooling ; data collection ; energy ; geometry ; global warming ; heat ; meteorological data ; residential housing ; risk
    Language English
    Dates of publication 2020-0201
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 2000772-3
    ISSN 0306-2619
    ISSN 0306-2619
    DOI 10.1016/j.apenergy.2019.114110
    Database NAL-Catalogue (AGRICOLA)

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  6. Article: Post-partum Fever of Unknown Origin: An Inaugural Flare of Severe Lupus With Multisystemic Involvement and Hemophagocytic Syndrome.

    Fernandes, Marco / Ferreira, Pedro / Lynce, Ana / Correia, Maria João / Ribeiro, Ana Margarida

    Cureus

    2023  Volume 15, Issue 1, Page(s) e33348

    Abstract: Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect almost every organ. Lupus protein-losing enteropathy (PLE) is one of the rarest manifestations of gastrointestinal involvement. Lupus flare as initial presentation is rare and ... ...

    Abstract Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect almost every organ. Lupus protein-losing enteropathy (PLE) is one of the rarest manifestations of gastrointestinal involvement. Lupus flare as initial presentation is rare and the disease can act as a trigger to other pathologic immune syndromes like Hemophagocytic Lymphohistiocytosis (HLH), although this association is rare. We report the case of a previously healthy African 39-year-old female patient, with a recent history of cesarean section. Admitted to the Emergency Department (ED) with diffuse abdominal pain and fever, having completed a cycle of antibiotic therapy for initially suspected endometritis. The clinical picture progressed with sustained high fever, new-onset lymphadenopathies, systemic rash, acute pulmonary edema and seizures. Laboratory findings included hyperferritinemia, hypertriglyceridemia, proteinuria and hypoalbuminemia. The auto-immune panel was positive for antinuclear antibodies (ANA), anti-dsDNA, anti-SSA and anti-SSB, anti-PL7, anti-RNP, anti-U1-SnRNP, and anti-Pm-Scl75. She also presented hypocomplementemia. An inaugural flare of SLE with multisystemic involvement and concomitant secondary Hemophagocytic Syndrome was considered and therapy with methylprednisolone pulses, Anakinra and Cyclophosphamide was started. By the end of the first cycle of cyclophosphamide, the patient presented clinical worsening with abdominal pain recrudescence and profuse diarrhea. After the exclusion of an infectious process, a Lupus PLE was assumed and Cyclophosphamide protocol was resumed, with sustained clinical improvement after the induction protocol. Despite initially suspected gynecological infection, the clinical progression with multisystemic involvement together with the auto-immune panel made the diagnosis of SLE possible, with other laboratory findings raising the suspicion of HLH. This case represents a rare report of severe SLE with multiple organ involvement accompanied by HLH. Gastrointestinal involvement with PLE added rarity and morbidity to the clinical picture. The case reinforces the idea that when organ dysfunction is due to a severe autoimmune response, supportive treatment can be lifesaving until immunosuppressive drugs reach their full effect.
    Language English
    Publishing date 2023-01-04
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.33348
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Mitral Valve Subacute Endocarditis Caused by Abiotrophia Defectiva: A Case Report.

    Faria, Catarina / Guerreiro, Renato / Cruz, Sofia / Fernandes, Marco

    Clinics and practice

    2021  Volume 11, Issue 1, Page(s) 162–166

    Abstract: Abiotrophia ... ...

    Abstract Abiotrophia defectiva
    Language English
    Publishing date 2021-03-02
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2605724-4
    ISSN 2039-7283 ; 2039-7275
    ISSN (online) 2039-7283
    ISSN 2039-7275
    DOI 10.3390/clinpract11010022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.

    Fernandes, Marco / Caetano, André / Castelhano, Luís / Santos, Luís

    Clinical neurology and neurosurgery

    2021  Volume 208, Page(s) 106829

    Abstract: Introduction: Point mutations in the Peripheral Myelin Protein 22 (PMP22) gene comprise less than 5% of the Charcot-Marie-Tooth (CMT) type 1 cases, and individualize either the CMT 1E subtype, or Hereditary Neuropathy with Liability to Pressure Palsy. ... ...

    Abstract Introduction: Point mutations in the Peripheral Myelin Protein 22 (PMP22) gene comprise less than 5% of the Charcot-Marie-Tooth (CMT) type 1 cases, and individualize either the CMT 1E subtype, or Hereditary Neuropathy with Liability to Pressure Palsy. The phenotype of CMT 1E presents with a severe early-onset polyneuropathy associated with deafness, although the clinical spectrum is broad.
    Case report: We describe a novel PMP22 gene point mutation (c.84G>T;p.(Trp28Cys)) in three patients of a Portuguese family with variable phenotypes, ranging from asymptomatic to mild complaints of distal limb numbness and gait difficulties, with the age of onset of symptoms ranging from mid-twenties to late-sixties, and no associated disability. In all affected patients, there was evidence of diffuse demyelinating sensorimotor polyneuropathy. Hearing loss does not seem to be associated with this variant, albeit neuropathic pain was reported.
    Conclusions: These findings suggest that this particular point mutation in the PMP22 gene is associated with a mild phenotype, further emphasizing that there are still unknown mechanisms (genetic and/or epigenetic) that may play a role in the clinical spectrum of CMT1E patients. Next generation sequencing panels including commonly mutated genes in CMT should be considered in CMT1 cases negative for PMP22 gene duplication.
    MeSH term(s) Adult ; Aged ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; DNA Mutational Analysis ; Female ; Humans ; Middle Aged ; Myelin Proteins/genetics ; Neural Conduction/physiology ; Pedigree ; Phenotype ; Point Mutation ; Portugal
    Chemical Substances Myelin Proteins ; PMP22 protein, human
    Language English
    Publishing date 2021-07-21
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2021.106829
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Lower motor neuron signs as part of the clinical spectrum of Creutzfeldt-Jakob disease: A histopathological correlation.

    Serrazina, Filipa / Fernandes, Marco / Guimarães, Susana / Caetano, André

    Clinical neurology and neurosurgery

    2021  Volume 202, Page(s) 106535

    MeSH term(s) Aged ; Anterior Horn Cells/pathology ; Cerebellum/pathology ; Creutzfeldt-Jakob Syndrome/diagnostic imaging ; Creutzfeldt-Jakob Syndrome/pathology ; Creutzfeldt-Jakob Syndrome/physiopathology ; Diffusion Magnetic Resonance Imaging ; Electromyography ; Humans ; Male ; Motor Neuron Disease/pathology ; Motor Neuron Disease/physiopathology ; Neostriatum/pathology ; Posterior Horn Cells/pathology ; Spinal Cord/pathology
    Language English
    Publishing date 2021-01-29
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2021.106535
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Insights Into Pediatric Asthma: A Population Study From Alto Minho Health Center.

    Soares, Catarina / Alves, Daniela / Gonçalves, Soraia / Martins, Tomás / Coelho, Patricia / Laranjeira, Virginia / Pedrosa, Joana / Lisboa, Daniela / Fernandes, Marco / Branco, Mariana

    Cureus

    2024  Volume 16, Issue 1, Page(s) e52577

    Abstract: Background Asthma represents one of the most common diseases in childhood, with a prevalence ranging between 9% and 13% in Portugal. Therefore, it holds significant importance in pediatric health. While existing studies have shed light on asthma in the ... ...

    Abstract Background Asthma represents one of the most common diseases in childhood, with a prevalence ranging between 9% and 13% in Portugal. Therefore, it holds significant importance in pediatric health. While existing studies have shed light on asthma in the Portuguese population, they have predominantly concentrated on urban centers, with the population of Alto Minho remaining underrepresented in the literature. This study aims to understand the main factors of exposure, exacerbation, and the most prevalent allergens in a pediatric sample from the Alto Minho Local Health Unit, Portugal. Methodology A retrospective cohort study was conducted among 239 pediatric asthma patients aged between five and 18 years at the Alto Minho Health Center. Data on demographics, clinical information, family history, environmental exposures, exacerbating factors, and prick test results were analyzed. Results Of the 239 patients, 64.44% were male and 35.56% were female. The majority of the sample exhibited a normal body mass index (82.17%) and a family history of atopy (66.67%). Noteworthy patterns emerged in comorbidities, notably an increased association with allergic rhinitis, the most frequent concomitant atopic pathology (79.50%), followed by atopic dermatitis (27.61%) and food allergy (10.88%). Sensitization to dust mites, particularly
    Language English
    Publishing date 2024-01-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.52577
    Database MEDical Literature Analysis and Retrieval System OnLINE

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