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  • 1
    Online Resource
    Online Resource
    Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis
    MDPI AG ; 2022
    In:  Journal of Personalized Medicine Vol. 12, No. 8 ( 2022-08-20), p. 1338-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 12, No. 8 ( 2022-08-20), p. 1338-
    Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A), a lysosomal storage disease with an autosomal recessive inherited pattern, is induced by GALNS gene mutations causing deficiency in N-acetylgalactosamine-6-sulfatase activity (GALNS; EC 3.1.6.4). Currently, intravenous (IV) enzyme replacement therapy (ERT) with elosulfase alfa is employed for treating MPS IVA patients. A systematic literature review was conducted to evaluate the efficacy and safety of IV elosulfase alfa for MPS IVA by searching the National Center for Biotechnology Information, U.S. National Library of Medicine National Institutes of Health (PubMed), Excerpta Medica dataBASE, and Cochrane Library databases, limited to clinical trials. Four cohort studies and two randomized controlled trials, with a total of 550 participants (327 on ERT treatment versus 223 on placebo treatment), satisfied the inclusion criteria. Pooled analysis of proportions and confidence intervals were also utilized to systematically review clinical cohort studies and trials. Per the pooled proportions analysis, the difference in means of urinary keratan sulfate (uKS), 6-min walk test, 3-min stair climb test, self-care MPS-Health Assessment Questionnaire, caregiver assistance and mobility, forced vital capacity, the first second of forced expiration, and maximal voluntary ventilation between the ERT and placebo treatment groups were −0.260, −0.102, −0.182, −0.360, −0.408, −0.587, −0.293, −0.311, and −0.213, respectively. Based on the currently available data, our meta-analysis showed that there is uKS, physical performance, quality of life, and respiratory function improvements with ERT in MPS IVA patients. It is optimal to start ERT after diagnosis.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm12081338
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2662248-8
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  • 2
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    Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome
    MDPI AG ; 2022
    In:  Children Vol. 9, No. 6 ( 2022-06-16), p. 905-
    Details
    In: Children, MDPI AG, Vol. 9, No. 6 ( 2022-06-16), p. 905-
    Abstract: Costello syndrome (CS) is a type of RASopathy caused mainly by de-novo heterozygous pathogenic variants in the HRAS gene located on chromosome 11p15.5. The phenotype of CS is characterized by prenatal overgrowth, postnatal failure to thrive, curly or sparse fine hair, coarse facial features, and multisystem involvement, including cardiovascular, endocrine, and gastroenterological disorders. We present a one-year-old girl with rapid weight loss and severe failure to thrive. She had gastroesophageal reflux at the age of four months with subsequent rapid weight loss. The loss of fat tissue over the whole body, refractory to a hypercaloric diet, mimicked the presentation of progressive lipodystrophy and masked the dysmorphic features of CS. The final diagnosis of CS was made by whole exome sequencing, which demonstrated a hot-spot, heterozygouspathogenic variant in the HRAS gene (c.34G 〉 A, rs104894229). Our patient illustrates that the excessive energy needs in CS patients may lead to severe failure to thrive and cause challenges in diagnosing CS. This case also highlights the importance of recognizing CS in patients with a history of prenatal overgrowth, polyhydramnios presenting with severe failure to thrive refractory to pharmacotherapy and tube feeding.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    URL: Article
    DOI: 10.3390/children9060905
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2732685-8
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  • 3
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    Functional Independence of Taiwanese Children with Osteogenesis Imperfecta
    MDPI AG ; 2022
    In:  Journal of Personalized Medicine Vol. 12, No. 8 ( 2022-07-24), p. 1205-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 12, No. 8 ( 2022-07-24), p. 1205-
    Abstract: Osteogenesis imperfecta (OI) is a group of rare genetic disorders that affect bone formation. Patients with OI present mainly with increased bone fragility and bone deformities. Twenty-seven Taiwanese children between 2 and 21 years of age with OI and their parents were recruited at MacKay Memorial Hospital from January 2013 to December 2019. We used the Functional Independence Measure for Children (WeeFIM) questionnaire to assess the functional independence of the children and describe any functional limitations or additional burden of daily care. Out of a potential score of 126, the mean total WeeFIM score was 113.7. There was a statistically significant difference between the scores of type I, type III and type IV OI (121.88 [SD 7.01] vs. 80.8 [SD 26.25] vs. 119.17 [SD 10.89]; p 〈 0.001). There were no statistically significant differences between the scores in different age groups, the male and female participants, and patients with pathogenic variants in COL1A1 and COL1A2. The mean scores for the self-care, mobility, and cognition domains were 48.78 (maximum 56, mean quotient 91.14%), 30.44 (maximum 35, mean quotient 87.12%), and 34.44 (maximum 35, mean quotient 99.05%), respectively. The best performance was in the cognition domain (mean quotient 99.05%), and the worst was in the mobility domain (mean quotient 87.12%). There were no statistically significant correlations between WeeFIM scores and age, or age when symptoms began. The total WeeFIM score and 13 subscores for the self-care and mobility domains were all positively correlated with body height (p 〈 0.01). The correlation was lowest for bowel and walking/wheelchair tasks, and the highest for bathing and dressing-upper tasks. For tasks in bathing, over 40% of the patients needed help. For tasks in the cognition domain, most patients required no help. For the Taiwanese children with OI, some support and supervision were required for self-care and mobility tasks, and the functional independence in these two domains was correlated with body height and disease types. The WeeFIM questionnaire may be a useful tool to assess the functional strengths and weaknesses of children with OI.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm12081205
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
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  • 4
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    The Proapoptotic Gene Bad Regulates Brain Development via p53-Mediated Stress Signals in Zebrafish
    MDPI AG ; 2021
    In:  Cells Vol. 10, No. 11 ( 2021-10-20), p. 2820-
    Details
    In: Cells, MDPI AG, Vol. 10, No. 11 ( 2021-10-20), p. 2820-
    Abstract: Studies have shown that the BH3-only domain Bad regulates brain development via the control of programmed cell death (PCD), but very few studies have addressed its effect on the molecular signaling of brain development in the system. In this work, we examined the novel role of zebrafish Bad in initial programmed cell death for brain morphogenesis through the priming of p53-mediated stress signaling. In a biological function study on the knockdown of Bad by morpholino oligonucleotides, at 24 h post-fertilization (hpf) Bad defects induced abnormal hindbrain development, as determined in a tissue section by means of HE staining which traced the damaged hindbrain. Then, genome-wide approaches for monitoring either the upregulation of apoptotic-related genes (11.8%) or the downregulation of brain development-related genes (29%) at the 24 hpf stage were implemented. The p53/caspase-8-mediated apoptotic death pathway was strongly involved, with the pathway being strongly reversed in a p53 mutant (p53M214K) line during Bad knockdown. Furthermore, we propose the involvement of a p53-mediated stress signal which is correlated with regulating Bad loss-mediated brain defects. We found that some major genes in brain development, such as crybb1, pva1b5, irx4a, pax7a, and fabp7a, were dramatically restored in the p53M214K line, and brain development recovered to return movement behavior to normal. Our findings suggest that Bad is required for (PCD) control, exerting a p53 stress signal on caspase-8/tBid-mediated death signaling and brain development-related gene regulation.
    Type of Medium: Online Resource
    ISSN: 2073-4409
    URL: Article
    DOI: 10.3390/cells10112820
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2661518-6
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  • 5
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    Online Resource
    Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan
    MDPI AG ; 2021
    In:  Medicina Vol. 58, No. 1 ( 2021-12-22), p. 15-
    Details
    In: Medicina, MDPI AG, Vol. 58, No. 1 ( 2021-12-22), p. 15-
    Abstract: Background and Objectives: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This study aims to determine the diagnostic yield of array comparative genomic hybridization (array-CGH) in ASD patients from a cohort of Chinese patients in Taiwan. Materials and Methods: Enrolled in this study were 80 ASD children (49 males and 31 females; 2–16 years old) followed up at Taipei MacKay Memorial Hospital between January 2010 and December 2020. The genomic DNA extracted from blood samples was analyzed by array-CGH via the Affymetrix GeneChip Genome-Wide Human single nucleotide polymorphism (SNP) and NimbleGen International Standards for Cytogenomic Arrays (ISCA) Plus Cytogenetic Arrays. The CNVs were classified into five groups: pathogenic (pathologic variant), likely pathogenic (potential pathologic variant), likely benign (potential normal genomic variant), benign (normal genomic variant), and uncertain clinical significance (variance of uncertain significance), according to the American College of Medical Genetics (ACMG) guidelines. Results: We identified 47 CNVs, 31 of which in 27 patients were clinically significant. The overall diagnostic yield was 33.8%. The most frequently clinically significant CNV was 15q11.2 deletion, which was present in 4 (5.0%) patients. Conclusions: In this study, a satisfactory diagnostic yield of array-CGH was demonstrated in a Taiwanese ASD patient cohort, supporting the clinical usefulness of array-CGH as the first-line testing of ASD in Taiwan.
    Type of Medium: Online Resource
    ISSN: 1648-9144
    URL: Article
    DOI: 10.3390/medicina58010015
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2088820-X
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  • 6
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    Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan
    MDPI AG ; 2022
    In:  Journal of Personalized Medicine Vol. 12, No. 5 ( 2022-05-18), p. 817-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 12, No. 5 ( 2022-05-18), p. 817-
    Abstract: Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm12050817
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
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  • 7
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    Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan
    MDPI AG ; 2021
    In:  Children Vol. 8, No. 11 ( 2021-10-22), p. 952-
    Details
    In: Children, MDPI AG, Vol. 8, No. 11 ( 2021-10-22), p. 952-
    Abstract: Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the KMT2A gene (NM_001197104.2). In this article, we discuss a 5-year-old boy who has mild intellectual disability (ID), hypotonia, HC, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, and growth delay. Trio-based whole-exome sequencing (trio-WES) was carried out on this patient and his parents, confirming the variants with Sanger sequencing. Trio-WES showed a de novo mutation of the KMT2A gene (NM_001197104.2: c.4696G 〉 A, p.Gly1566Arg). On the basis of the clinical features and the results of the WES, WSS was diagnosed. Therefore, medical professionals should consider a diagnosis of WSS if patients have growth retardation and development delay as well as hirsutism, particularly HC.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    URL: Article
    DOI: 10.3390/children8110952
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2732685-8
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  • 8
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    Online Resource
    Antithrombotic Strategies in Patients with Atrial Fibrillation Following Percutaneous Coronary Intervention: A Systemic Review and Network Meta-Analysis of Randomized Controlled Trials
    MDPI AG ; 2020
    In:  Journal of Clinical Medicine Vol. 9, No. 4 ( 2020-04-08), p. 1062-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 9, No. 4 ( 2020-04-08), p. 1062-
    Abstract: Up to 10% of patients with atrial fibrillation (AF) undergo percutaneous coronary intervention (PCI). A systematic review and network meta-analysis were conducted by searching PubMed, Embase, and the Cochrane database of systematic reviews for randomized control trials that studied the safety and efficacy of different antithrombotic strategies in these patients. Six studies, including 12,158 patients were included. Compared to that in the triple antithrombotic therapy group (vitamin K antagonist (VKA) plus P2Y12 inhibitor and aspirin), thrombolysis in myocardial infarction (TIMI) major bleeding was significantly reduced in the dual antithrombotic therapy (non-vitamin K oral anticoagulants (NOACs) plus P2Y12 inhibitor) group by 47% (Odds ratio (OR), 0.53; 95% credible interval [CrI], 0.35–0.78; I2 = 0%). Besides, NOAC plus a P2Y12 inhibitor was associated with less intracranial hemorrhage compared to VKA plus single antiplatelet therapy (OR: 0.20, 95% CrI: 0.05–0.77). There was no significant difference in the trial-defined major adverse cardiac events or the individual outcomes of all-cause mortality, cardiovascular death, myocardial infarction, stroke or stent thrombosis among all antithrombotic strategies. In conclusion, antithrombotic strategy of NOACs plus P2Y12 inhibitor is safer than, and as effective as, the strategies including aspirin when used in AF patients undergoing PCI.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm9041062
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2662592-1
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  • 9
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    Vaginal Microbiota of the Sexually Transmitted Infections Caused by Chlamydia trachomatis and Trichomonas vaginalis in Women with Vaginitis in Taiwan
    MDPI AG ; 2021
    In:  Microorganisms Vol. 9, No. 9 ( 2021-09-02), p. 1864-
    Details
    In: Microorganisms, MDPI AG, Vol. 9, No. 9 ( 2021-09-02), p. 1864-
    Abstract: The three most common sexually transmitted infections (STIs) are Chlamydia trachomatis (CT), Neisseria gonorrhoeae (GC) and Trichomonas vaginalis (TV). The prevalence of these STIs in Taiwan remains largely unknown and the risk of STI acquisition affected by the vaginal microbiota is also elusive. In this study, a total of 327 vaginal swabs collected from women with vaginitis were analyzed to determine the presence of STIs and the associated microorganisms by using the BD Max CT/GC/TV molecular assay, microbial cultures, and 16S rRNA sequencing. The prevalence of CT, TV, and GC was 10.8%, 2.2% and 0.6%, respectively. A culture-dependent method identified that Escherichia coli and Streptococcus agalactiae (GBS) were more likely to be associated with CT and TV infections. In CT-positive patients, the vaginal microbiota was dominated by L. iners, and the relative abundance of Gardnerella vaginalis (12.46%) was also higher than that in TV-positive patients and the non-STIs group. However, Lactobacillus spp. was significantly lower in TV-positive patients, while GBS (10.11%), Prevotella bivia (6.19%), Sneathia sanguinegens (12.75%), and Gemella asaccharolytica (5.31%) were significantly enriched. Using an in vitro co-culture assay, we demonstrated that the growth of L. iners was suppressed in the initial interaction with TV, but it may adapt and survive after longer exposure to TV. Additionally, it is noteworthy that TV was able to promote GBS growth. Our study highlights the vaginal microbiota composition associated with the common STIs and the crosstalk between TV and the associated bacteria, paving the way for future development of health interventions targeting the specific vaginal bacterial taxa to reduce the risk of common STIs.
    Type of Medium: Online Resource
    ISSN: 2076-2607
    URL: Article
    DOI: 10.3390/microorganisms9091864
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2720891-6
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  • 10
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    Wind Resources Assessment and Development of Grid Connected Wind Farm—A Case Study
    MDPI AG ; 2020
    In:  Sustainability Vol. 12, No. 21 ( 2020-10-27), p. 8903-
    Details
    In: Sustainability, MDPI AG, Vol. 12, No. 21 ( 2020-10-27), p. 8903-
    Abstract: In the present study, the case study of micro-siting for the campus of the Institute of Nuclear Energy Research (INER) is conducted. Results from the effect of weather data suggest that for the wind turbine system higher than 20 m, the effect of nearby building and wake on electricity production would be less important. The effect of different weather data on the generated annual electricity production (AEP) is consistent for the wind turbine higher than 20 m. The difference between the calculated and real AEP of INER-150 kW wind turbine is only 1.1%, which is much better than some previous studies. The good agreement is mainly due to the higher height of the INER-150 kW (50 m), more stable coming wind and smaller impact of building on the performance of power production. Considering the proactivity on the installation for the site in INER campus, the finalized decision on the selection of wind turbine is 1 kW system. The power generation-related data are collected and processed for the fine tuning of model parameters in the future.
    Type of Medium: Online Resource
    ISSN: 2071-1050
    URL: Article
    DOI: 10.3390/su12218903
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2518383-7
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