Newborn screening: what pediatricians should know

Leão, Letícia Lima; Aguiar, Marcos José Burle de

doi:10.2223/jped.1790

Cited by 25 publications

(10 citation statements)

References 49 publications

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“…The allele S presents high frequency in the Americas, and in Brazil, between 35,000 and 50,000 people are affected, with higher prevalence in the northeastern and southeastern states of the country. Between 0.1 and 0.3% of the population is affected, especially the black race (SOARES et al, 2017), and this tends to rise according to the degree of multiracial ancestry of the population, with studies showing increased frequency among Caucasians (LEÃO & AGUIAR, 2008;NUNES et al, 2020;JOERIN-LUQUE et al, 2023).…”

Section: Discussionmentioning

confidence: 99%

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Xerez Albuquerque,

Pinto Luciano,

Andreola Silva

et al. 2023

PRW

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Clinical manifestations are highly variable in sickle cell disease (SCD) and polymorphisms (SNP) may modify vascular homeostasis. Because of this, we investigated of SNP of NOS3, ET1, TGF-β1 and THBS1 genes in vascular complications of SCD. High risk of hospitalization was found for genotypes NOS3TC/CC (rs2070744 - RR: 1.94) and THBS1AG/GG (rs1478604 - RR: 1.59) while low risk to NOS3GT/TT (rs1799983 - RR: 0.53). Hydroxyurea treatment was more frequent in the genotypes NOS3TC/CC (rs2070744 - RR: 1.83), ET1GT/TT (rs5370 - RR: 2.67) and ET1TG/GG (rs1800541 - RR: 1.43). Alleles ET1TG/GG (rs1800541) showed correlation for abdominal, arm and leg pain, bone disorders, cholelithiasis and vaso-occlusive crisis, while ET1GT/TT (rs5370) with chest pain, painful episodes, splenic sequestration and stroke. Interestingly, the NOS3GT/TT (rs1799983) alleles had a high stroke risk (RR:4.21), though, protection against bone disorders, cholelithiasis and less risk of hospitalization. We believed that our results indicate polymorphisms that may provide benefits in the treating Clinical Complications in SCD Patients, especially in vascular SCD pathophysiology, modulating vaso-occlusion crisis.

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Section: Discussionmentioning

confidence: 99%

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Xerez Albuquerque,

Pinto Luciano,

Andreola Silva

et al. 2023

PRW

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“…The second part consisted of 36 closed-ended (multiple-choice) statements, each with five possible answers. These statements sought to elicit information [12] on Concepts of neonatal screening: Each statement was followed by a five-item Likert-type scale, which offered the following possible positive or negative response options: (1) Completely disagree; (2) Partially disagree; (3) Neutral; (4) Partially agree; (5) Completely agree. These data were used as the basic substrate for confirmatory modeling through principal components analysis.…”

Section: Questionnairementioning

confidence: 99%

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Guimarães

Rabelo

Figueiredo

2019

IJNS

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Background: To ascertain the degree of knowledge of postpartum women about important aspects related to the neonatal screening process and whether differences of opinion exist between those who deliver in low-complexity versus high-complexity health facilities (low-risk versus high-risk pregnancies, respectively). Methods: This was a prospective, cross-sectional, questionnaire-based study. The sample consisted of postpartum women recruited from 2013 to 2015 at public maternity hospitals in the city of Niterói, Brazil. Participants were divided into two groups and completed a questionnaire consisting of Likert-scored items. Continuous variables were analyzed with the Mann-Whitney test, and categorical variables, with Fisher’s test. A confirmatory factor analysis of participants’ answers was performed. Results: Of 188 women enrolled, 54 (28.7%) had incomplete elementary education; 119 (62.2%) had attended more than six antenatal care visits. The mean age was 25.57 years. Nearly all women (n = 179, 95.2%) were roomed-in with their infants. Knowledge of neonatal screening was very similar in the high-complexity and low-complexity groups. Divergences were limited to items regarding the risks of neonatal screening. Conclusions: The degree of knowledge among postpartum women was similar among high- and low-complexity facilities. Those who attended high-complexity facilities had longer hospital stays and greater adherence to ethical issues regarding neonatal screening.

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“…Diagnosis is usually performed by means of fetal ultrasound, however, in some cases, it can only be identified after birth. Early detection of CDH is essential for defining the therapeutic strategy and planning childbirth (Macedo et al, 2018). According to some studies, ultrasonography may present limitations for the accurate diagnosis of CDH, especially in cases of smaller lesions and when there is herniation of organs that are not usually found in the thorax.…”

Section: Introductionmentioning

confidence: 99%

“…According to some studies, ultrasonography may present limitations for the accurate diagnosis of CDH, especially in cases of smaller lesions and when there is herniation of organs that are not usually found in the thorax. In this sense, fetal magnetic resonance imaging has been considered a useful tool to complement the diagnosis of CDH and to assess fetal lung morphology and function (Macedo et al, 2018;Dingemann et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Robotic Surgery in Congenital Diaphragmatic Hernia Correction: A Systematic Review

Costa¹,

Rosalem²,

Silva³

et al. 2023

JHS

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INTRODUCTION:Congenital diaphragmatic hernia (CDH) is a rare congenital malformation that can lead to serious consequences for neonatal health. Surgery is the standard treatment for CDH, and robotic surgery is being used more and more. However, the effectiveness and safety of robotic surgery compared to other surgical techniques for CDH are still uncertain. GOAL: This integrative review aimed to assess the available evidence on the efficacy and safety of robotic surgery for CDH. METHODOLOGY: PubMed and embase databases were searched until January 2023, resulting in ten relevant studies. Most studies compared robotic surgery with laparoscopic or open surgery. RESULT: The analysis of the results indicated that robotic surgery can be a safe and effective option for CDH, with shorter hospital stay, lower rate of conversion to open surgery and low complication rates. However, there were no significant differences regarding surgical time and surgical complications compared to other surgical techniques. FINAL CONSIDERATIONS: While the results are encouraging, more research is needed to confirm the efficacy and safety of robotic surgery for CDH in different patient groups.

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Newborn screening: what pediatricians should know

Cited by 25 publications

References 49 publications

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Robotic Surgery in Congenital Diaphragmatic Hernia Correction: A Systematic Review

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