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Öğe Acute kidney injury and peritoneal dialysis in extremely low birth weight newborns(Edizioni Minerva Medica, 2023) Kaya, Huseyin; Gokce, Ismail K.; Turgut, Hatice; Ozdemir, Ramazan; Tabel, YilmazBACKGROUND: In 12.5-56% of extremely low birth weight (ELBW) infants treated in newborn units, acute kidney injury (AKI) develops. Some of these infants may need renal replacement therapy for several reasons including hyperkalemia, hypovolemia and resistant acidosis. METHODS: All ELBW infants who were followed in our hospital between January 2015 and December 2017 and who lived longer than 48 hours were assessed. Patients were followed for AKI and peritoneal dialysis (PD). RESULTS: AKI developed in 25 of 201 ELBW infants. PD was administered to nine patients. PD was initiated at a median of 11 days (2-22 days) for all patients due to hyperkalemia which did not respond to medical treatment. Three of the nine infants who received PD died while dialysis was ongoing. The remaining six patients completed PD successfully. In these patients, the serum potassium value returned to normal in three days, and dialysis was continued for a median of 93 hours (40-172 hours). Dialysis leakage occurred in two patients, and hyperglycemia developed in two patients. On average, diuresis started at the 25(th) hour (8-40(th) hour). CONCLUSIONS: In the renal failure treatment of ELBW infants, PD is the only option which can be used for many units. It was found that in ELBW infants, who had wider peritoneal surface when compared to their body weight, biochemical values recovered rapidly with PD, and diuresis started a short while later in most patients.Öğe Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family(Lippincott Williams & Wilkins, 2019) Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, AysehanFBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.Öğe Combined (dual) drug therapy for the treatment of patent ductus arteriosus: last approach prior to ligation(Cambridge Univ Press, 2023) Deveci, Mehmet F.; Kaya, Huseyin; Yurttutan, Sadik; Alagoz, Meral; Gokce, Ismail K.; Karakurt, Cemsit; Gullu, Ufuk U.Objective: We aimed to evaluate the efficacy of combined (ibuprofen+paracetamol) medical therapy in cases of persistent haemodynamically significant patent ductus arteriosus that are resistant to standard medical monotherapy (ibuprofen and/or paracetamol) in this retrospective multi-centre study. Methods: The combined therapy included the administration of 15mg/kg/dose of paracetamol every 6 h for 3 days and ibuprofen at an initial dose of 10mg/kg/dose followed by 5 mg/kg/dose every 24 h. After 2 days following the administration of the last dose, the researchers evaluated the efficacy of combined treatment by conducting an echocardiographic examination. Results: Of all 42 patients who received combined therapy, 37 (88.1%) patients exhibited closure of the haemodynamically significant patent ductus arteriosus without requiring surgical ligation. Patients who did not respond to combined therapy had a higher mean birth weight and gestational age compared to those who responded (p < 0.05). Conclusion: The researchers believe the success of ibuprofen and paracetamol in haemodynamically significant patent ductus arteriosus treatment may be due to their synergistic efficacy and inhibition of the prostaglandin synthesis pathway through different enzymes. The results of our retrospective trial suggest that combination therapy with paracetamol and ibuprofen can be attempted when monotherapy is unsuccessful in treating haemodynamically significant patent ductus arteriosus, especially in centres without a surgical department.