Acompanhamento do aleitamento materno no tratamento de crianças com fenilcetonúria

Lamônica, Dionísia Aparecida Cusin; Stump, Marisdalva Viegas; Pedro, Karla; Rolim-Liporacci, Maura Contieri; Caldeira, Ana Cláudia Gandara Casarin; Anastácio-Pessan, Fernanda da Luz; Gejão, Mariana Germano

doi:10.1590/s2179-64912012000400016

Cited by 9 publications

(14 citation statements)

References 12 publications

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“…(F) Growth curves of strain A118 in LB supplemented with 0.02% PA, 0.02% PAA, or 0.02% PP with or without PF. 0.02% was selected as the concentration for PA and its derivatives for testing in order to mimic the mean concentration of amino acid nitrogen in normal human blood (Schaeffer et al, 1975; Lamonica et al, 2012). Statistical analysis was performed using Mann–Whitney ( n = 3).…”

Section: Resultsmentioning

confidence: 99%

Human Pleural Fluid Elicits Pyruvate and Phenylalanine Metabolism in Acinetobacter baumannii to Enhance Cytotoxicity and Immune Evasion

et al. 2019

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Acinetobacter baumannii ( Ab ) is one of the most treacherous pathogens among those causing hospital-acquired pneumonia (HAP). A. baumannii possesses an adaptable physiology, seen not only in its antibiotic resistance and virulence phenotypes but also in its metabolic versatility. In this study, we observed that A. baumannii undergoes global transcriptional changes in response to human pleural fluid (PF), a key host-derived environmental signal. Differential gene expression analyses combined with experimental approaches revealed changes in A. baumannii metabolism, affecting cytotoxicity, persistence, bacterial killing, and chemotaxis. Over 1,220 genes representing 55% of the differentially expressed transcriptomic data corresponded to metabolic processes, including the upregulation of glutamate, short chain fatty acid, and styrene metabolism. We observed an upregulation by 1.83- and 2.61-fold of the pyruvate dehydrogenase complex subunits E3 and E2, respectively. We also found that pyruvate (PYR), in conjunction with PF, triggers an A. baumannii pathogenic behavior that adversely impacts human epithelial cell viability. Interestingly, PF also amplified A. baumannii cytotoxicity against murine macrophages, suggesting an immune evasion strategy implemented by A. baumannii . Moreover, we uncovered opposing metabolic strategies dependent on the degree of pathogenicity of the strains, where less pathogenic strains demonstrated greater utilization of PYR to promote persister formation in the presence of PF. Additionally, our transcriptomic analysis and growth studies of A. baumannii suggest the existence of an alternative phenylalanine (PA) catabolic route independent of the phenylacetic acid pathway, which converts PA to phenylpyruvate (PP) and shuttles intermediates into styrene metabolism. This alternative route promoted a neutrophil-evasive state, as PF-induced degradation of PP significantly reduced overall human neutrophil chemotaxis in ex vivo chemotactic assays. Taken together, these data highlight A. baumannii pathoadaptabililty in response to host signals and provide further insight into the role of bacterial metabolism in virulence traits, antibiotic persistence strategies, and host innate immune evasion.

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Section: Resultsmentioning

confidence: 99%

Human Pleural Fluid Elicits Pyruvate and Phenylalanine Metabolism in Acinetobacter baumannii to Enhance Cytotoxicity and Immune Evasion

et al. 2019

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“…Morão et al [70] found that the patients also showed a loss in the score of the Children Gambling Task. Lamônica et al [59] reported that out of 10 patients, two of them presented outside the normality standards in the development scales. The skills were related to performance in motor, linguistic and cognitive activities.…”

Section: Descriptive Analysis Of Single Studies Reporting the Outcome...mentioning

confidence: 99%

“…In the case series studies (Fig. 2, panel B), three domains (ie, clear description of both patient's history and postintervention clinical condition, and description of a takeaway lesson) were rated as "high risk of bias" in three studies (25.0%) [21,59,97].…”

Section: Risk Of Bias Assesmentmentioning

confidence: 99%

“…Four studies [59,60,62,70] reported executive function outcomes with 41% being classi ed as below average in the assessment of receptive vocabulary using the Peabody Image Vocabulary Test [60]. Malloy-Diniz et al [62] reported that PKU children with high blood Phe levels (ie, mean Phe levels between 360 and 600 µmol/L) performed signi cantly worse than both the PKU children with low blood Phe levels and the control children on tasks that assess executive functioning.…”

Section: Descriptive Analysis Of Single Studies Reporting the Outcome...mentioning

confidence: 99%

“…Seven further studies[24, 26,31, 89,91,100,105] were published initially as a thesis followed by a full-text publication[25,27,32,90,92,101, 106]. When information regarding risk of bias or other aspects related to study criteria were unavailable in the methods, we attempted to contact study authors for additional information.Forty of the included studies were conducted inBrazil [18,20,[24][25][26][27][31][32][33]40,42,43,49,50,52,55,59, 60, 62, 63,[65][66][67][68][70][71][72][78][79][80][86][87][88][89][90][91][92][93][94][95]97,[99][100][101][102]105, 106], seven in Argentina[19, 22, 23, 28-30, 34, 44, 45, 57, 58], ve in Chile[35, 36, 38,39,77], three each in Colombia [46,53,...…”

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confidence: 99%

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Burden of phenylketonuria in Latin American patients: A systematic review and meta-analysis of observational studies

Pessoa

Martins

Ribeiro

et al. 2022

Preprint

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Background: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual’s quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries.Methods: Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results: 79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4,090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04 to 0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04 to 0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08 to 0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162].Conclusions: There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.

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Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

Adams,

Fiesco-Roa,

Wong

et al. 2023

Genetics in Medicine

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Acompanhamento do aleitamento materno no tratamento de crianças com fenilcetonúria

Cited by 9 publications

References 12 publications

Human Pleural Fluid Elicits Pyruvate and Phenylalanine Metabolism in Acinetobacter baumannii to Enhance Cytotoxicity and Immune Evasion

Human Pleural Fluid Elicits Pyruvate and Phenylalanine Metabolism in Acinetobacter baumannii to Enhance Cytotoxicity and Immune Evasion

Burden of phenylketonuria in Latin American patients: A systematic review and meta-analysis of observational studies

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

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