Dataset Information

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

ABSTRACT: BACKGROUND:Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns. METHODS:The present study was designed based on MOOSE protocol and reporting was done in accordance with the PRISMA guidelines. The protocol of this systematic review was published in PROSPERO before it was performed (CRD42020162626). A comprehensive search was done in 10/10/2019 to find related literature on international online databases Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I2 index and Q test. All meta-analyses were performed using Comprehensive Meta-Analysis Software ver. 2. P?

SUBMITTER: Shokri M

PROVIDER: S-EPMC7379797 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

Shokri Mehdi M Karimi Parviz P Zamanifar Hadis H Kazemi Fatemeh F Badfar Gholamreza G Azami Milad M

BMC pediatrics 20200724 1

<h4>Background</h4>Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns.<h4>Methods</h4>The present study was designed based on MOOSE ...[more]

PMID: 32703178

Similar Datasets

Project description:Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover markers (BTM) and to define areas for future research. Two research teams (Amsterdam, Netherlands and Atlanta, USA) performed literature searches for articles reporting data on BMD, osteopenia and osteoporosis, BTM or other bone indicators in patients with PKU. Included articles were compared between research teams and assessed for quality and risk of bias. A total of 13 unique articles were included; 11/13 articles reported BMD including a total of 360 patients. Ten out of 11 articles found BMD was significantly lower in patients with PKU. Meta-analyses for total BMD (TBMD; 3 studies; n = 133), lumbar spine BMD (LBMD; 7 studies; n = 247), and femoral neck BMD (FBMD; 2 studies; n = 78) Z-scores were performed. Overall effect sizes were: TBMD -0.45 (95% CI -0.61, -0.28); LBMD -0.70 (95% CI -0.82, -0.57); FBMD -0.96 (95% CI -1.42, -0.49). Definitions of osteopenia and osteoporosis were highly heterogeneous between studies and did not align with World Health Organization standards and the International Society for Clinical Densitometry positions on BMD measurement. Despite individual study findings of low BMD indicating higher risk of osteoporosis, pooled available data suggest reduction in BMD is not clinically important when using standard definitions of low BMD. Results from studies evaluating BTM are inconclusive. Phenylalanine concentration, vitamin D, PTH, and nutrient intake do not correlate with BMD or BTM. We recommend forthcoming studies use standard definitions of low BMD to determine clinical implications of BMD Z-scores below 0, explore cause of low BMD in the subset of patients with low BMD for chronological age (Z-score < -2) and assess fracture risk in patients with PKU.

Project description:In phenylketonuria (PKU), natural protein tolerance is defined as the maximum natural protein intake maintaining a blood phenylalanine (Phe) concentration within a target therapeutic range. Tolerance is affected by several factors, and it may differ throughout a person's lifespan. Data on lifelong Phe/natural protein tolerance are limited and mostly reported in studies with low subject numbers. This systematic review aimed to investigate how Phe/natural protein tolerance changes from birth to adulthood in well-controlled patients with PKU on a Phe-restricted diet. Five electronic databases were searched for articles published until July 2020. From a total of 1334 results, 37 articles met the eligibility criteria (n = 2464 patients), and 18 were included in the meta-analysis. The mean Phe (mg/day) and natural protein (g/day) intake gradually increased from birth until 6 y (at the age of 6 months, the mean Phe intake was 267 mg/day, and natural protein intake was 5.4 g/day; at the age of 5 y, the mean Phe intake was 377 mg/day, and the natural protein intake was 8.9 g/day). However, an increase in Phe/natural protein tolerance was more apparent at the beginning of late childhood and was >1.5-fold that of the Phe tolerance in early childhood. During the pubertal growth spurt, the mean natural protein/Phe tolerance was approximately three times higher than in the first year of life, reaching a mean Phe intake of 709 mg/day and a mean natural protein intake of 18 g/day. Post adolescence, a pooled analysis could only be performed for natural protein intake. The mean natural protein tolerance reached its highest (32.4 g/day) point at the age of 17 y and remained consistent (31.6 g/day) in adulthood, but limited data were available. The results of the meta-analysis showed that Phe/natural protein tolerance (expressed as mg or g per day) increases with age, particularly at the beginning of puberty, and reaches its highest level at the end of adolescence. This needs to be interpreted with caution as limited data were available in adult patients. There was also a high degree of heterogeneity between studies due to differences in sample size, the severity of PKU, and target therapeutic levels for blood Phe control.

Project description:BackgroundThyroid dysfunction during pregnancy is associated with adverse outcomes for both mother and fetus. The present meta-analysis was conducted to evaluate thyroid dysfunction in Iranian pregnant women.MethodsWe registered this review at PROSPERO (registration number: CRD42020166655). The research steps in this systematic review and meta-analysis were performed according to the MOOSE protocol, and finally, reports were provided based on the PRISMA guidelines. The literature search was performed in October 2019 using the international online databases, including Web of Science, Ovid, Science Direct, Scopus, EMBASE, PubMed/Medline, Cochrane Library, EBSCO, CINAHL, Google Scholar as well as national databases were reviewed. Data were extracted after applying the inclusion and exclusion criteria and qualitative evaluation of the studies. I2 index and Q test were used to assess differences in studies. All analyses were performed using Comprehensive Meta-Analysis Software. P-value less than 0.05 was considered statistically significant. We identified 1261 potential articles from the databases, and 426 articles remained after removing the duplicate and unrelated studies. After evaluating the full text, 52 articles were removed.ResultsFinally, 19 eligible studies including 17,670 pregnant women included for meta-analysis. The prevalence of thyroid dysfunction in Iranian pregnant women was 18.10% (95%CI: 13.89-23.25). The prevalence of hypothyroidism, clinical hypothyroidism, and subclinical hypothyroidism in Iranian pregnant women was respectively estimated to be 13.01% (95%CI: 9.15-18.17), 1.35% (95%CI: 0.97-1.86) and 11.90% (95%CI: 7.40-18.57). The prevalence of hyperthyroidism, clinical hyperthyroidism, and subclinical hyperthyroidism in Iranian pregnant women was respectively estimated to be 3.31% (95%CI: 1.62-6.61), 1.06% (95%CI: 0.61-1.84) and 2.56% (95%CI: 0.90-7.05). The prevalence of anti-thyroperoxidase antibody was estimated to be 11.68% (95%CI: 7.92-16.89).ConclusionThe results of this meta-analysis showed a high prevalence of thyroid disorders, especially hypothyroidism. The decision to recommend thyroid screening during pregnancy for all women is still under debate, because the positive effects of treatment on pregnancy outcomes must be ensured. On the other hand, evidence about the effect of thyroid screening and treatment of thyroid disorders on pregnancy outcomes is still insufficient. Nevertheless, a large percentage of general practitioners, obstetricians and gynecologists perform screening procedures in Iran.

Dataset Information

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

Publications

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets