Publications by authors named "C Turkyilmaz"

Article Synopsis
  • This study looked at how doctors treat babies with a serious condition called long-gap esophageal atresia (LGEA) using special methods.
  • They checked the medical records of 10 patients and found that different surgical techniques were used, like the Foker and Gazi methods, to help the babies eat normally.
  • It was important for these surgeries to be done by skilled surgeons in special hospitals to get the best results for the babies.
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Article Synopsis
  • Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that lead to the condition known as collodion baby at birth, with subtypes including Harlequin ichthyosis, lamellar ichthyosis, and others.
  • A male newborn was diagnosed with non-bullous congenital ichthyosiform erythroderma (NBCIE) and had whole exome sequencing which identified two specific gene variants in a compound heterozygous state.
  • This case is notable because it presents the first instance of two genetic variants associated with NBCIE, diverging from the previously reported cases linked to bathing suit ichthyosis (BSI).
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Hypoxic-ischemic encephalopathy (HIE) is one of the substantial causes of developmental-cognitive disability in neonates. In this early period, it is difficult to diagnose accompanying or predisposing genetic diseases in HIE patients. Herein, we present a patient with HIE who was diagnosed with Pitt-Hopkins syndrome in the newborn period.

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Human milk is the first choice for infant nutrition but it must be multinutrient fortified for optimum growth and neurodevelopment in preterm infants. However, there is no consensus on ideal fortification method. The authors aimed to generate the human-milk protein content percentiles during the first five postnatal weeks in four preterm groups (n = 108) with median gestational age of 32 (23-36) wk, who were fed adjustably fortified breast milk in the NICU between October 2011 and June 2013.

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