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  1. Article ; Online: Characterisation of COVID-19 Pandemic in Paediatric Age Group: A Systematic Review and Meta-Analysis.

    Mustafa, Naira M / A Selim, Laila

    Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology

    2020  Volume 128, Page(s) 104395

    Abstract: Background: Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1: Objectives: We performed a systematic review ... ...

    Abstract Background: Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1
    Objectives: We performed a systematic review and meta-analysis to analyse the disease characterisation in paediatric age group including the possibility of vertical transmission to the neonates.
    Methods: Articles published up to 2
    Findings: The most frequently reported symptoms were cough 49% (95% CI: 42 - 55%) and fever 47% (95% CI: 41- 53%). Lymphopenia and increased Procalcitonin were recorded in (21%, 95% CI: 12 - 30%) and (28%, 95% CI: 18 - 37%) respectively. No sex difference for COVID-19 was found in paediatric age group (p = 0.7). Case fatality rate was 0%. Four out of 58 neonates (6.8%) born to COVID-19 confirmed mothers tested positive for the disease.
    Conclusion: The disease trajectory in Paediatric patients has good prognosis compared to adults. Intensive care unit and death are rare. Vertical transmission and virus shedding in breast milk are yet to be established.
    MeSH term(s) Female ; Humans ; Infant, Newborn ; Male ; Clinical Laboratory Techniques ; Cough/virology ; COVID-19/diagnosis ; COVID-19/epidemiology ; COVID-19/transmission ; COVID-19/virology ; COVID-19 Testing ; Fever/virology ; Infectious Disease Transmission, Vertical ; Pandemics ; Prognosis ; SARS-CoV-2/isolation & purification ; Infant ; Child, Preschool ; Child
    Keywords covid19
    Language English
    Publishing date 2020-05-08
    Publishing country Netherlands
    Document type Journal Article ; Meta-Analysis ; Systematic Review
    ZDB-ID 1446080-4
    ISSN 1873-5967 ; 1386-6532
    ISSN (online) 1873-5967
    ISSN 1386-6532
    DOI 10.1016/j.jcv.2020.104395
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  2. Article ; Online: Characterisation of COVID-19 Pandemic in Paediatric Age Group

    Mustafa, Naira M / A Selim, Laila

    Journal of Clinical Virology

    A Systematic Review and Meta-Analysis

    2020  Volume 128, Page(s) 104395

    Keywords Virology ; Infectious Diseases ; covid19
    Language English
    Publisher Elsevier BV
    Publishing country us
    Document type Article ; Online
    ZDB-ID 1446080-4
    ISSN 1873-5967 ; 1386-6532
    ISSN (online) 1873-5967
    ISSN 1386-6532
    DOI 10.1016/j.jcv.2020.104395
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants.

    Mustafa, Naira M / Elabd, Nevine E / Selim, Laila A / Abdou, Doaa M / Griffin, Julian L

    Clinica chimica acta; international journal of clinical chemistry

    2022  Volume 536, Page(s) 70–76

    Abstract: Background: Cerebral creatine deficiency syndromes (CCDS) are disorders affecting creatine synthesis or transport. Several methods have been developed to measure creatine and guanidinoacetate (GAA) in different body fluids including methods based on gas ...

    Abstract Background: Cerebral creatine deficiency syndromes (CCDS) are disorders affecting creatine synthesis or transport. Several methods have been developed to measure creatine and guanidinoacetate (GAA) in different body fluids including methods based on gas chromatography-mass spectrometry (GC-MS) and High-pressure liquid chromatography mass spectrometry (HPLC-MS). The diagnosis of CCDS is then confirmed by sequencing of creatine biosynthesis genes guanidinoacetate methyltransferase (GAMT) and Arginine: glycine amidinotransferase (GATM) and creatine transporter gene solute carrier family 6 member 8 (SLC6A8) or by functional enzymatic assay. The aim of the current study was to find the most reliable and accurate screening method for CCDS by comparing methods using Nuclear Magnetic Resonance spectroscopy (NMR), GC-MS and HPLC-MS. Additionally, this study was performed to estimate the prevalence of CCDS in a cohort of Egyptian patients and potentially to discover novel variants.
    Subjects and methods: The study was conducted on 150 subjects with clinical signs and symptoms consistent with CCDS. Metabolic profiling of urine samples was performed using three techniques: 1) GC-MS 2) Ultra high-pressure (or performance) liquid chromatography - Tandem Mass Spectrometry (UHPLC- MS/MS) and 3) NMR.
    Results: The linearity of peak areas for creatine and GAA by UHPLC-MS/MS and NMR covered and exceeded the ranges normally found in urine. The limit of quantification and the inter-day precision results for creatine and GAA were more robust by UHPLC-MS/MS than NMR. Ten cases were identified as being positive for CCDS by our analytical approaches and underwent next generation sequencing (NGS) for GAMT, GATM and SLC6A8 genes. NGS was performed and confirmed one patient with one likely Pathogenic variant in GAMT gene: (NC_000019.10:g.1401317C > G, NP_000147.1:p.Ala54Pro). Additionally, we describe four novel intronic variants in the GATM gene: c.1043-357del and c.1043-357_1043-356insT, and were predicted to activate cryptic acceptor site with potential alteration of splicing, c.979-227G > A was found to significantly alter the Exon Splice Enhancer (ESE) xon Splice Silencer (ESS) motifs ratio and c.1042 + 262del which was found to have no implications on splicing.
    Conclusions: Both UHPLC-MS/MS and NMR spectroscopy are comparable to GC-MS in screening for CCDS. Nonetheless, the UHPLC-MS/MS method had better performance than NMR spectroscopy. Additionally, Sequencing of the full length of GATM, GAMT, and SLC6A8 genes is needed to identify intronic variants that could cause CCDS via affecting splice sites.
    MeSH term(s) Humans ; Arginine ; Chromatography, High Pressure Liquid ; Creatine/urine ; Guanidinoacetate N-Methyltransferase ; Syndrome ; Tandem Mass Spectrometry
    Chemical Substances Arginine (94ZLA3W45F) ; Creatine (MU72812GK0) ; Guanidinoacetate N-Methyltransferase (EC 2.1.1.2)
    Language English
    Publishing date 2022-09-18
    Publishing country Netherlands
    Document type Comparative Study ; Journal Article
    ZDB-ID 80228-1
    ISSN 1873-3492 ; 0009-8981
    ISSN (online) 1873-3492
    ISSN 0009-8981
    DOI 10.1016/j.cca.2022.09.005
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  4. Article: Characterisation of COVID-19 Pandemic in Paediatric Age Group: A Systematic Review and Meta-Analysis

    Mustafa, Naira M / A Selim, Laila

    J Clin Virol

    Abstract: BACKGROUND: Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1st April 2020, the number of cases worldwide was ... ...

    Abstract BACKGROUND: Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1st April 2020, the number of cases worldwide was recorded to be 823,626 with 40,598 deaths. Most of the reported cases were adults with few cases described in children and neonates. OBJECTIVES: We performed a systematic review and meta-analysis to analyse the disease characterisation in paediatric age group including the possibility of vertical transmission to the neonates. METHODS: Articles published up to 2nd April 2020 in PubMed and google Scholar were considered for this study. FINDINGS: The most frequently reported symptoms were cough 49% (95% CI: 42 - 55%) and fever 47% (95% CI: 41- 53%). Lymphopenia and increased Procalcitonin were recorded in (21%, 95% CI: 12 - 30%) and (28%, 95% CI: 18 - 37%) respectively. No sex difference for COVID-19 was found in paediatric age group (p = 0.7). Case fatality rate was 0%. Four out of 58 neonates (6.8%) born to COVID-19 confirmed mothers tested positive for the disease. CONCLUSION: The disease trajectory in Paediatric patients has good prognosis compared to adults. Intensive care unit and death are rare. Vertical transmission and virus shedding in breast milk are yet to be established.
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #32417675
    Database COVID19

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  5. Article ; Online: Characterisation of COVID-19 Pandemic in Paediatric Age Group: A Systematic Review

    Mustafa, Naira M / A Selim, Laila

    Journal of Clinical Virology

    Abstract: Abstract Background Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1 April 2020, the number of cases worldwide ... ...

    Abstract Abstract Background Coronavirus disease 2019 (COVID-19) is a pandemic first originated in Wuhan the capital of Hubei province, China in December 2019 and then spread globally. It is caused by SARS-CoV-2. Until 1 April 2020, the number of cases worldwide was recorded to be 823,626 with 40,598 deaths. Most of the reported cases were adults with few cases described in children and neonates. Objectives We performed a systematic review to analyse the disease characterisation in paediatric age group including the possibility of vertical transmission to the neonates. Methods Articles published up to the 2nd April 2020 in PubMed and google Scholar were considered for this study. Findings The most frequently reported symptoms were cough 49% (95% CI: 42 – 55%) and fever 47% (95% CI: 41- 53%). Lymphopenia and increased Procalcitonin were recorded in (21%, 95% CI:12 – 30%) and (28%, 95% CI:18 – 37%) respectively. No sex difference for COVID-19 in paediatric age group (p = 0.7). Case fatality rate was 0%. Four out of 58 neonates (6.8%) born to COVID-19 confirmed mothers tested positive for the disease. Conclusion The disease trajectory in Paediatric patients has good prognosis compared to adults. Intensive care unit and death are rare. Vertical transmission and virus shedding in breast milk are yet to be established.
    Keywords covid19
    Publisher Elsevier
    Document type Article ; Online
    DOI 10.1016/j.jcv.2020.104395
    Database COVID19

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  6. Article ; Online: Unraveling the role of miRNAs in the diagnosis, progression, and therapeutic intervention of Alzheimer's disease.

    Abdelmaksoud, Nourhan M / Sallam, Al-Aliaa M / Abulsoud, Ahmed I / El-Dakroury, Walaa A / Abdel Mageed, Sherif S / Al-Noshokaty, Tohada M / Elrebehy, Mahmoud A / Elshaer, Shereen Saeid / Mahmoud, Naira Ali / Fathi, Doaa / Rizk, Nehal I / Elballal, Mohammed S / Mohammed, Osama A / Abdel-Reheim, Mustafa Ahmed / Zaki, Mohamed Bakr / Saber, Sameh / Doghish, Ahmed S

    Pathology, research and practice

    2023  Volume 253, Page(s) 155007

    Abstract: Alzheimer's disease (AD) is a multifaceted, advancing neurodegenerative illness that is responsible for most cases of neurological impairment and dementia in the aged population. As the disease progresses, affected individuals may experience cognitive ... ...

    Abstract Alzheimer's disease (AD) is a multifaceted, advancing neurodegenerative illness that is responsible for most cases of neurological impairment and dementia in the aged population. As the disease progresses, affected individuals may experience cognitive decline, linguistic problems, affective instability, and behavioral changes. The intricate nature of AD reflects the altered molecular mechanisms participating in the affected human brain. MicroRNAs (miRNAs, miR) are essential for the intricate control of gene expression in neurobiology. miRNAs exert their influence by modulating the transcriptome of brain cells, which typically exhibit substantial genetic activity, encompassing gene transcription and mRNA production. Presently, comprehensive studies are being conducted on AD to identify miRNA-based signatures that are indicative of the disease pathophysiology. These findings can contribute to the advancement of our understanding of the mechanisms underlying this disorder and can inform the development of therapeutic interventions based on miRNA and related RNA molecules. Therefore, this comprehensive review provides a detailed holistic analysis of the latest advances discussing the emerging role of miRNAs in the progression of AD and their possible application as potential biomarkers and targets for therapeutic interventions in future studies.
    MeSH term(s) Humans ; Aged ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Alzheimer Disease/therapy ; Cognitive Dysfunction ; Brain/metabolism ; RNA, Messenger ; Biomarkers/metabolism
    Chemical Substances MicroRNAs ; RNA, Messenger ; Biomarkers
    Language English
    Publishing date 2023-12-04
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 391889-0
    ISSN 1618-0631 ; 0344-0338
    ISSN (online) 1618-0631
    ISSN 0344-0338
    DOI 10.1016/j.prp.2023.155007
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    Ud III Zs.20: Show issues Location:
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  7. Article ; Online: Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

    Pavone, Piero / Pappalardo, Xena Giada / Mustafa, Naira / Falsaperla, Raffaele / Marino, Simona Domenica / Corsello, Giovanni / Bianca, Sebastiano / Parano, Enrico / Ruggieri, Martino

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

    2022  Volume 43, Issue 11, Page(s) 6529–6538

    Abstract: Background: The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell ... ...

    Abstract Background: The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies, involving different chromosomes and tissues. MVA1 is clinically characterized by intrauterine growth restriction, post-natal growth retardation, and severe neurologic impairment including microcephaly, developmental delay/intellectual disability, epileptic seizures, and generalized hypotonia. Malignancies are also serious sequelae associated with the disorder. We reported on a case of two-year-old Italian girl with MVA1 who shows severe neurologic impairment, microcephaly and epileptic seizures.
    Materials and methods: Clinical data collection and genetic diagnosis of the patient were assessed. Mutational analysis covers the chromosomal microarray analysis, the gene methylation pattern studied using the methylation-specific multiplex ligation-dependent probe amplification, and the family-based Whole Exome Sequencing (WES). A literature research based on reported cases of MVA and premature chromatid separation was also included.
    Results: Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected.
    Conclusion: Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype-phenotype correlation and lead to a reappraisal of a severe syndrome. Diagnosis and in-depth follow-up provided worthwhile data.
    MeSH term(s) Humans ; Mosaicism ; Microcephaly/genetics ; Protein Serine-Threonine Kinases/genetics ; Aneuploidy ; Syndrome ; Mutation/genetics ; Seizures ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism
    Chemical Substances Protein Serine-Threonine Kinases (EC 2.7.11.1) ; BUB1B protein, human ; Cell Cycle Proteins
    Language English
    Publishing date 2022-07-09
    Publishing country Italy
    Document type Case Reports ; Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-06247-w
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  8. Article ; Online: Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

    Pavone, Piero / Pappalardo, Xena Giada / Mustafa, Naira / Cho, Sung Yoon / Jin, Dong Kyu / Incorpora, Gemma / Falsaperla, Raffaele / Marino, Simona Domenica / Corsello, Giovanni / Parano, Enrico / Ruggieri, Martino

    Italian journal of pediatrics

    2022  Volume 48, Issue 1, Page(s) 29

    Abstract: Background: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ... ...

    Abstract Background: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability.
    Case presentation: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature.
    Conclusions: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity.
    MeSH term(s) Child ; Hemiplegia/diagnosis ; Hemiplegia/epidemiology ; Hemiplegia/genetics ; Humans ; Infant ; Male ; Mutation ; Mutation, Missense ; Sodium-Potassium-Exchanging ATPase/genetics
    Chemical Substances ATP1A3 protein, human ; Sodium-Potassium-Exchanging ATPase (EC 7.2.2.13)
    Language English
    Publishing date 2022-02-17
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2088556-8
    ISSN 1824-7288 ; 1720-8424
    ISSN (online) 1824-7288
    ISSN 1720-8424
    DOI 10.1186/s13052-021-01194-2
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