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Ferda Özlü

Cukurova University

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The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Çukurova medical journal (Online)/Çukurova medical journal (2022)

Mustafa Özdemir Şerif HAMİTOĞLU Ferda Özlü Hacer Yapıcıoğlu Gülen Gül Mert

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mutation in the Cox Ⅱ gene while alive. We proposed that 7706G˃A missense mutation is rare and should be more lethal than other mutations that cause Alpers-Huttenlocher syndrome.

Leigh disease

10.17826/cumj.1170135

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Clinical Experience with Ceftazidime/Avibactam for the Treatment of Extensively Drug-Resistant or Pandrug-Resistant Klebsiella pneumoniae in Neonates and Children

Research Square (Research Square) (2024)

Özlem Özgür Gündeşli̇oğlu Zeliha Haytoğlu Hatice Gümüş Faruk Ekıncı Filiz Kibar

Abstract Purpose:Klebsiella pneumoniaeis a significant cause of healthcare-associated infections, resulting in high morbidity and mortality rates due to limited treatment options. In this study, we aimed to evaluate the treatment outcomes and the safety of Ceftazidime-avibactam in infections caused by extensively drug-resistant or pandrug-resistantKlebsiella pneumoniaein pediatric patients.Methods:This study included pediatric patients who received ceftazidime-avibactam treatment due to extensively drug-resistant or pandrug-resistantKlebsiella pneumoniaeinfections, monitored in the pediatric intensive care, neonatal intensive care, and pediatric wards of Cukurova University Faculty of Medicine between 2022 and 2023. Patients' microbiological responses, clinical responses, medication side effects, and 30-day survival rates were evaluated.Results:Eleven pediatric patients were included in the study, of whom nine were male (81.8%). The median age of the patients was 15 months (min: 1 day - max: 183 months). Sepsis was diagnosed in 9 patients (81.8%). Two premature infants (27 and 35 weeks) were admitted to the neonatal ICU. Regarding theKlebsiella pneumoniaestrains, 10 (91%) were extensively drug-resistant (XDR), and 1 (9%) was pandrug-resistant (PDR). Eight strains (72.7%) were carbapenem-resistant, and 9 (81.8%) were colistin-resistant. Microbiological response was noted in 8 patients (72.7%), clinical response was evident in 6 patients (54.5%). The 30-day survival rate was 54.5%, with six patients surviving.Conclusion:In our study, ceftazidime-avibactam has been identified as a significant treatment option for resistantKlebsiella pneumoniaeinfection in critically ill children and premature infants with sepsis and organ failure, and it has been found to be well tolerated.

Ceftazidime/avibactam

10.21203/rs.3.rs-4605917/v1

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Ischemic-Modified Albumin in Neonates with Congenital Heart Defects

American Journal of Perinatology (2022)

Didem G. Korkut Ferda Özlü Gülizar Atlı Şule Menziletoğlu Yıldız Fadli Demir

Ischemia-modified albumin (IMA) is a new biochemical marker of ischemia. We aimed to search blood IMA levels in neonates with congenital heart defects.

Ischemia-modified albumin

Hypoxia

10.1055/s-0042-1758488

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Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report

Bolu Abant Izzet Baysal Universitesi Tip Fakultesi Abant Tip Dergisi (2021)

Mustafa Özdemir Tugay TEPE Şerif HAMİTOĞLU Ahmet İbrahim KURTOĞLU Ferda Özlü

Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the 4th ventricle and enlargement of the posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% of the patients. The relationship of Dandy-Walker malformation with postaxial polydactyl has been defined as a possible autosomal recessive syndrome (OMIM 220220). Here, we present an infant with postaxial polydactyl accompanying Dandy-Walker malformation because of rare.

Dandy–Walker syndrome

Cerebellar vermis

Fourth ventricle

Polydactyly

10.47493/abantmedj.950391

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THE ACTIVITY AND KINETICS OF PYRUVATE KINASE IN HYPOXIC NEWBORNS

Pediatric Hematology and Oncology (2005)

Nejat Narlı Mehmet Satar Levent Kayrın Hacer Yapıcıoğlu Ferda Özlü

Pyruvate kinase (PK) plays a key role in erythrocytes, which obtain most of their energy from glycolysis. This study investigated erythrocyte energy metabolism in hypoxic newborns, measuring pyruvate kinase activity, kinetic, and ATP levels in hypoxia. Forty-nine babies who had cord pH value lower than 7.2 and Apgar scores lower than 7 in the first minute were accepted as the hypoxic group, and 48 babies who had cord pH value higher than 7.2 and an Apgar score higher than 7 in the first minute were taken as controls. The erythrocyte mean PK activity was found to be lower (16.9 ± 8.5 [5.8−47.9] EU/gHb) in the hypoxic group than the control group (21.3 ± 10.9 [3.9−44.3] EU/gHb) (p <. 05). The mean ATP value of hypoxic group was higher (19.2 ± 11.3 [3.9−37.6] mM) compared to control group (13.8 ± 7.16 [3.9−28.7] mM). In the kinetic study, with different ADP concentrations in the control group, the substrate amount (Km) that is needed to reach the half-maximum of enzyme activity (Vmax = 27.7 Eu/gHb) was found to be 2.70 mM, but it was 1.47 mM to reach Vmax (22.7 Eu/gHb) in the hypoxic group. Vmax was 41.67 Eu/gHb and Km was 8.33 mM in the control group at different PEP concentrations, whereas Vmax was 21.7 Eu/gHb and Km was 0.89 mM in the hypoxic group. Increase in the ATP level while ePK activity decreases, suggesting that glycolysis increases in hypoxia. In the kinetic study, the substrate amount needed for reaching the half-maximum of enzyme activity was less in the hypoxic group, probably suggests that pyruvate kinase increases glycolysis by increasing its affinity to the substrates. In this way, erythrocytes may gain the energy required for oxygen delivery to tissues and maintaining ion gradient. This arrangement possibly proceeds from sygmoidal structure of pyruvate kinase.

Hypoxia

Adenosine triphosphate

10.1080/08880010500198616

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Two newborn babies with generalized arterial calcification of infancy, two new mutations

The Turkish Journal of Pediatrics (2016)

Hacer Yapıcıoğlu-Yıldızdaş Nazan Özbarlas Sevcan Erdem Mehmet Bertan Yılmaz Ferda Özlü

Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life.

Abdominal aorta

Mesenteric arteries

10.24953/turkjped.2016.04.013

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Konjenital Toksoplazmozisli İki Yenidoğan Olgusu

Turkish Journal of Pediatric Disease (2016)

Mustafa Akçalı Ferda Özlü Ebru Esen Ümmühan Çay İnci Batun

Congenital toxoplasmosis is a rare intrauterine infection caused by acute infection of the mother during pregnancy. Congenital toxoplasmosis can present in a spectrum from a mild form to a severe form including chorioretinitis, meningitis, hydrocephaly and intracranial calcification. Although possibility of passage to the fetus is low in early pregnancy, the severity and sequela risk are high. Diagnosis depends on the demonstration of the parasites itself, its DNA extracts, or antibodies against the surface antigens of the parasites. Here we present two cases of congenital toxoplasmosis that did not have antenatal follow-up. The family of the first case arrived from Syria due to war and the mother did not receive any antenatal care because of poor living conditions after the forced migration. The second case was the fourth pregnancy of the mother who did not have any antenatal care. Finally, congenital toxoplasmosis is an insidious and fatal disease. Early treatment during pregnancy or the postnatal period has positive effects on the prognosis. Antenatal care is important in the diagnosis. We would like to underline the importance of informing both refugees and natives about antenatal care and the necessity of taking preventive measures for refugees by the authorities.

Chorioretinitis

Sequela

Toxoplasmosis

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Assessment of Antioxidant System Status before and after Operation in Neonates with Congenital Heart Disease

Nigerian Journal of Clinical Practice (2023)

Ferda Özlü GA Demiray Dilek Güneş Hacer Yapicioğlu Yildizdaş ŞM Yıldız

Oxidative stress is considered to have a significant role in the development of cardiovascular diseases (CVDs) as well as many other diseases. Therefore, the purpose of the study is to evaluate the antioxidant system status at pre- and post-operative period in newborns with congenital heart disease (CHD) requiring operation.Fifty CHD patients participated in this research. Superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), and thiobarbituric acid reactive substances (TBARS) levels were studied in blood samples. RACHS-1 score, blood lactate levels, and hypoxic events were also recorded. Comparisons of antioxidant system parameters were conducted at pre- and post-operative periods and also between exitus and discharged groups.GPx activity and TBARS levels were significantly higher in the pre-operative period than post-operative period though the other antioxidant enzymes were not altered. In pre-operative period, GPx activity was low in addition to rarer hypoxic events in the discharged group. Also, a negative correlation was found between SOD and GPx activities in pre-operative period.The results provide fundamental data showing the lowered GPx activity and TBARS levels considered as sensitive oxidative biomarkers after the operation. It was assumed that antioxidant system parameters might show changes after the operation, and GPx is prominent for resistance to hypoxic conditions. Post-operative reduction of GPx and TBARS levels is significant for evaluating the antioxidant system alterations after the operation. However, further investigations follow long-term duration for post-operative monitoring to estimate how antioxidant system status changes to improve the treatment of the health condition.

TBARS

Thiobarbituric acid

10.4103/njcp.njcp_252_23

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Peritoneal dialysis in neonates: six years of single center experience

DergiPark (Istanbul University) (2018)

Ferda Özlü Hacer Yapicioğlu YILDIZDAŞ Gül ŞEKER Hüseyin Şimşek Aysun Karabay BAYAZIT

Center (category theory)

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Fetal İyilik Hali ve Doğumda Adaptasyon

Ferda Özlü

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