National Newborn Screening Tests Carried Out with Heel Lance and Their Importance

İçke, Sibel; Genç, Rabia Ekti

doi:10.4274/jpr.22932

Cited by 13 publications

(8 citation statements)

References 3 publications

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“…Neonatal tarama programları ve kapsamları ülkelere göre farklılık göstermektedir (3) . Ülkemizde ise 2006 yılında fenilketonüri (FKÜ) ve konjenital hipotroidi taraması ile başlayan neonatal tarama programlarına 2008 yılında biyotinidaz eksikliği paneli, 2015 yılında ise Kistik fibrozis taraması eklenmiştir (12) . Hastalarımızdan yalnızca birisine neonatal tarama programı kapsamında tanı konuldu.…”

Section: Discussionunclassified

Inborn errors of metabolism: a three-year experience

Kulalı¹,

Köse²,

Çelik³

et al. 2019

BUCH

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Metabolik yolaktaki bir enzim veya kofaktörün eksikliği ya da yokluğu sonucu özel bir metabolitin oluşamaması ya da birikimi Doğumsal Metabolik Hastalıklar (DMH)'a neden olmaktadır. Doğumda genellikle sağlıklı olan bu bebekler, doğumdan sonra saatler ya da günler içinde aktivitede azalma, beslenememe, solunum güçlüğü, bilinç değişikliği veya nöbet gibi semptomlarla başvururlar. Bu semptomlar DMH'a özgü olmadığından erken tanı ve tedavi ile komplikasyonların ve ölümlerin önlenmesinde klinik şüphe varlığı önemlidir. Bu çalışmada, yenidoğan döneminde tanı alan DMH'a sahip hastaların klinik ve biyokimyasal özelliklerinin değerlendirilmesi amaçlandı.

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Section: Discussionunclassified

Inborn errors of metabolism: a three-year experience

Kulalı¹,

Köse²,

Çelik³

et al. 2019

BUCH

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“…One of the recently adopted methods used to reduce pain during neonatal heel stick procedures is heel warming (Cong, 2015;Zhu et al, 2015). Heel warming increases vascularity by causing vasodilatation in the region and facilitates sampling by accelerating blood flow (Icke & Genc, 2016;Janes, Pinelli, Landry, Downey, & Paes, 2002). It is also reported that vasodilatation provided by heel warming influenced the duration of the bleeding process and the crying period of the newborn (Cong, 2015;Zhu et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Effects of breastfeeding and heel warming on pain levels during heel stick in neonates

Aydın

İnal

2019

Int J of Nursing Practice

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Aim To determine the effects of two different methods, breastfeeding and heel warming, during heel stick procedures on pain levels in healthy term neonates. Methods This study was a prospective, randomized controlled trial. The sample of the study consisted of 150 healthy newborns who matched the case selection criteria and were brought to the nursery for the heel stick procedure. Fifty neonates were randomly assigned to each group: breastfeeding (n = 50), heel warming (n = 50), and control (n = 50), using computer‐based randomization. The study data were obtained using an Information Form and the Neonatal Infant Pain Scale (NIPS). Results The pre‐procedural pain scores of the breastfeeding group (mean 4.44 SD 1.21 seconds) were lower than in the heel warming (mean 6.10 SD 1.07 seconds) and the control group (mean 6.42 SD 0.91 seconds) (P < 0.01). Both the total crying time and the first calming time of the breastfeeding group were shorter than the heel warming and control group. The first calming time of the heel warming group was shorter than in the control group. Conclusions Both breastfeeding and heel warming are effective in reducing the calming time during heel stick procedures. However, breastfeeding is more effective than heel warming in reducing pain during heel stick and should be preferred as the first choice.

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“…17,20,21) Therefore, a remarkable feature is the musty odor caused by increased levels of phenylpyruvic acid, phenylacetic acid, and phenyllactic acid in the body fluids and urine of these patients. 17,22) When PKU is not treated early, it can cause behavioral problems, psychiatric symptoms, motor disorders, seizures, an eczematous rash, and irreversible intellectual disability. 1,23,24) Links have also been established between high Phe levels and epigenetic alterations in gene expression patterns in the brain, disrupted myelin production, impaired cerebral glucose metabolism (as seen on positron emission tomography imaging), the accumulation of amyloid plaque-like fibrils, and increased oxidative stress.…”

Section: A C C E P T E D a R T I C L Ementioning

confidence: 99%

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

Keskin¹,

Şahin²,

Capasso³

et al. 2023

Clin Exp Pediatr

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Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12 th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the brain. The primary purpose of PKU treatment is to maintain the blood Phe level to prevent certain undesired effects. Hence, lifelong medical nutrition therapy is recommended for these patients.The usefulness of natural protein sources may be limited, as they are based on individual Phe tolerance, and a patient's daily protein requirements are supported by Phe-free amino acid mixtures. A few PKU treatment centers recently started using supplemental casein glycomacropeptide, pegvaliase, or large neutral amino acids, and some patients are treated by responding to tetrahydrobiopterin, which works as a pharmaceutical chaperone (prescribed as sapropterin dihydrochloride). This review discusses the efficacy and safety considerations of basic medical nutrition approaches and new-generation protein substitutes that are used to treat PKU.

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National Newborn Screening Tests Carried Out with Heel Lance and Their Importance

Abstract: Ge liş ta ri hi/Re cei ved: 16.02.2016 Ka bul ta ri hi/Ac cep ted: 25.04.2016

Cited by 13 publications

References 3 publications

Inborn errors of metabolism: a three-year experience

Inborn errors of metabolism: a three-year experience

Effects of breastfeeding and heel warming on pain levels during heel stick in neonates

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

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