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  1. Article ; Online: Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.

    Korasick, David A / Buckley, David P / Palpacelli, Alessandra / Cursio, Ida / Cesaroni, Elisabetta / Cheng, Jianlin / Tanner, John J

    Chemico-biological interactions

    2024  Volume 394, Page(s) 110993

    Abstract: Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes a step of lysine catabolism. Certain missense mutations in the ALDH7A1 gene cause pyridoxine dependent epilepsy (PDE), a rare autosomal neurometabolic disorder with recessive inheritance that affects almost ... ...

    Abstract Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes a step of lysine catabolism. Certain missense mutations in the ALDH7A1 gene cause pyridoxine dependent epilepsy (PDE), a rare autosomal neurometabolic disorder with recessive inheritance that affects almost 1:65,000 live births and is classically characterized by recurrent seizures from the neonatal period. We report a biochemical, structural, and computational study of two novel ALDH7A1 missense mutations that were identified in a child with rare recurrent seizures from the third month of life. The mutations affect two residues in the oligomer interfaces of ALDH7A1, Arg134 and Arg441 (Arg162 and Arg469 in the HGVS nomenclature). The corresponding enzyme variants R134S and R441C (p.Arg162Ser and p.Arg469Cys in the HGVS nomenclature) were expressed in Escherichia coli and purified. R134S and R441C have 10,000- and 50-fold lower catalytic efficiency than wild-type ALDH7A1, respectively. Sedimentation velocity analytical ultracentrifugation shows that R134S is defective in tetramerization, remaining locked in a dimeric state even in the presence of the tetramer-inducing coenzyme NAD
    MeSH term(s) Aldehyde Dehydrogenase/genetics ; Aldehyde Dehydrogenase/chemistry ; Aldehyde Dehydrogenase/metabolism ; Mutation, Missense ; Humans ; Molecular Dynamics Simulation ; Crystallography, X-Ray ; Models, Molecular ; Epilepsy/genetics ; Infant ; Male
    Chemical Substances ALDH7A1 protein, human (EC 1.2.1.3) ; Aldehyde Dehydrogenase (EC 1.2.1.3)
    Language English
    Publishing date 2024-04-09
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 218799-1
    ISSN 1872-7786 ; 0009-2797
    ISSN (online) 1872-7786
    ISSN 0009-2797
    DOI 10.1016/j.cbi.2024.110993
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article: Metabolic Bone Disease in Children with Intestinal Failure and Long-Term Parenteral Nutrition: A Systematic Review

    Gatti, Simona / Quattrini, Sara / Palpacelli, Alessandra / Catassi, Giulia N. / Lionetti, Maria Elena / Catassi, Carlo

    Nutrients. 2022 Feb. 26, v. 14, no. 5

    2022  

    Abstract: Metabolic bone disease (MBD) is a possible complication of intestinal failure (IF), with a multi-factorial pathogenesis. The reduction of bone density (BMD) may be radiologically evident before manifestation of clinical signs (bone pain, vertebral ... ...

    Abstract Metabolic bone disease (MBD) is a possible complication of intestinal failure (IF), with a multi-factorial pathogenesis. The reduction of bone density (BMD) may be radiologically evident before manifestation of clinical signs (bone pain, vertebral compression, and fractures). Diagnosis relies on dual-energy X-ray absorptiometry (DXA). Incidence and evolution of MBD are not homogeneously reported in children. The aim of this systematic review was to define the prevalence of MBD in IF children and to describe risk factors for its development. A comprehensive search of electronic bibliographic databases up to December 2021 was conducted. Randomized controlled trials; observational, cross-sectional, and retrospective studies; and case series published between 1970 and 2021 were included. Twenty observational studies (six case-control) were identified and mostly reported definitions of MBD based on DXA parameters. Although the prevalence and definition of MBD was largely heterogeneous, low BMD was found in up to 45% of IF children and correlated with age, growth failure, and specific IF etiologies. Data demonstrate that long-term follow-up with repeated DXA and calcium balance assessment is warranted in IF children even when PN dependence is resolved. Etiology and outcomes of MBD will be better defined by longitudinal prospective studies focused on prognosis and therapeutic perspectives.
    Keywords bone density ; calcium ; developmental orthopedic disease ; dual-energy X-ray absorptiometry ; evolution ; intestines ; pain ; parenteral feeding ; pathogenesis ; prognosis ; systematic review
    Language English
    Dates of publication 2022-0226
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2518386-2
    ISSN 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu14050995
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Severe hypertransaminasemia during mild SARS-CoV-2 infection: A pediatric case report and literature review.

    Palpacelli, Alessandra / Martelli, Gaia / Lattanzi, Bianca / Volpini, Alessandro / Cazzato, Salvatore

    Pediatric investigation

    2021  Volume 5, Issue 4, Page(s) 310–312

    Abstract: Introduction: Liver injury during SARS-CoV-2 infection has a multifactorial pathogenesis and it is frequent in pediatric cases.: Case presentation: We report a case with severe hypertransaminasemia associated with mild SARS-CoV-2 infection.: ... ...

    Abstract Introduction: Liver injury during SARS-CoV-2 infection has a multifactorial pathogenesis and it is frequent in pediatric cases.
    Case presentation: We report a case with severe hypertransaminasemia associated with mild SARS-CoV-2 infection.
    Conclusion: This highlights the potential need of hepatic function evaluation during acute illness and follow-up even in non-critically ill children with COVID-19.
    Language English
    Publishing date 2021-10-05
    Publishing country United States
    Document type Case Reports
    ISSN 2574-2272
    ISSN (online) 2574-2272
    DOI 10.1002/ped4.12300
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Metabolic Bone Disease in Children with Intestinal Failure and Long-Term Parenteral Nutrition: A Systematic Review.

    Gatti, Simona / Quattrini, Sara / Palpacelli, Alessandra / Catassi, Giulia N / Lionetti, Maria Elena / Catassi, Carlo

    Nutrients

    2022  Volume 14, Issue 5

    Abstract: Metabolic bone disease (MBD) is a possible complication of intestinal failure (IF), with a multi-factorial pathogenesis. The reduction of bone density (BMD) may be radiologically evident before manifestation of clinical signs (bone pain, vertebral ... ...

    Abstract Metabolic bone disease (MBD) is a possible complication of intestinal failure (IF), with a multi-factorial pathogenesis. The reduction of bone density (BMD) may be radiologically evident before manifestation of clinical signs (bone pain, vertebral compression, and fractures). Diagnosis relies on dual-energy X-ray absorptiometry (DXA). Incidence and evolution of MBD are not homogeneously reported in children. The aim of this systematic review was to define the prevalence of MBD in IF children and to describe risk factors for its development. A comprehensive search of electronic bibliographic databases up to December 2021 was conducted. Randomized controlled trials; observational, cross-sectional, and retrospective studies; and case series published between 1970 and 2021 were included. Twenty observational studies (six case-control) were identified and mostly reported definitions of MBD based on DXA parameters. Although the prevalence and definition of MBD was largely heterogeneous, low BMD was found in up to 45% of IF children and correlated with age, growth failure, and specific IF etiologies. Data demonstrate that long-term follow-up with repeated DXA and calcium balance assessment is warranted in IF children even when PN dependence is resolved. Etiology and outcomes of MBD will be better defined by longitudinal prospective studies focused on prognosis and therapeutic perspectives.
    MeSH term(s) Bone Diseases, Metabolic/diagnosis ; Bone Diseases, Metabolic/epidemiology ; Bone Diseases, Metabolic/etiology ; Child ; Cross-Sectional Studies ; Humans ; Intestinal Failure ; Parenteral Nutrition/adverse effects ; Prospective Studies ; Retrospective Studies
    Language English
    Publishing date 2022-02-26
    Publishing country Switzerland
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu14050995
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Something Is Changing in Viral Infant Bronchiolitis Approach.

    Bottau, Paolo / Liotti, Lucia / Laderchi, Eleonora / Palpacelli, Alessandra / Calamelli, Elisabetta / Colombo, Carlotta / Serra, Laura / Cazzato, Salvatore

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 865977

    Abstract: Acute Viral Bronchiolitis is one of the leading causes of hospitalization in the first 12-24 months of life. International guidelines on the management of bronchiolitis broadly agree in recommending a minimal therapeutic approach, not recommending the ... ...

    Abstract Acute Viral Bronchiolitis is one of the leading causes of hospitalization in the first 12-24 months of life. International guidelines on the management of bronchiolitis broadly agree in recommending a minimal therapeutic approach, not recommending the use of bronchodilators. Guidelines, generally, consider bronchiolitis as a "unique disease" and this runs the risk of not administering therapy in some patients who could benefit from the use of bronchodilators, for instance, in those who will develop asthma later in their life and face first episode in the age of bronchiolitis. Today, there is growing evidence that bronchiolitis is not a single illness but can have different "endotypes" and "phenotypes," based on age, personal or family history of atopy, etiology, and pathophysiological mechanism. There is evidence that some phenotypes of bronchiolitis are more strongly associated with asthma features and are linked to higher risk for asthma development. In these populations, possible use of bronchodilators might have a better impact. Age seems to be the main feature to suggest a good response to a bronchodilator-trial, because, among children > 6 months old with bronchiolitis, the presence of a subset of patients with virus-induced wheezing or the first episode of asthma is more likely. While waiting for new research to define the relationship between therapeutic options and different phenotypes, a bronchodilator-trial (using short-acting β2 agonists with metered-dose inhalers and valved holding chambers) seems appropriate in every child with bronchiolitis and age > 6 months.
    Language English
    Publishing date 2022-04-14
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.865977
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Hashimoto's thyroiditis: an accidental discovery of a lingual thyroid in a 7-year-old child.

    Mariani, Michela / Palpacelli, Alessandra / Mussoni, Annalisa / Rossodivita, Aurora Natalia

    BMJ case reports

    2013  Volume 2013

    Abstract: An ectopic thyroid located at the base of the tongue is a rare entity, resulting from early developmental defects of thyroid gland embryogenesis during its descent from the foramen caecum to its normal eutopic pretracheal site. This condition is the main ...

    Abstract An ectopic thyroid located at the base of the tongue is a rare entity, resulting from early developmental defects of thyroid gland embryogenesis during its descent from the foramen caecum to its normal eutopic pretracheal site. This condition is the main cause of congenital primary hypothyroidism, even though signs and symptoms of thyroid dysfunction may also appear later in childhood. Lingual thyroid may sometimes present with symptoms of respiratory obstruction or feeding difficulties. We illustrate the case of a 7-year-old girl with subclinical hypothyroidism due to Hashimoto's thyroiditis arising in a lingual thyroid. She had never suffered from upper airway obstructive symptoms, but did refer a 3-month history of cough. Rapid normalisation of thyroid-stimulating hormone levels and termination of the cough were attained when the L-thyroxine treatment started. After 6 months a significant reduction of lingual thyroid size was also noted. The diagnostic procedures and therapeutic options in childhood are discussed.
    MeSH term(s) Asymptomatic Diseases ; Child ; Female ; Hashimoto Disease/complications ; Humans ; Hypothyroidism/complications ; Incidental Findings ; Lingual Goiter/diagnosis ; Lingual Thyroid/diagnosis
    Language English
    Publishing date 2013-08-21
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2013-200247
    Database MEDical Literature Analysis and Retrieval System OnLINE

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