When the Expected Scenario Did Not Occur: A Novel Mutation Resembling Neuromyelitis Optica Spectrum Disorder.

Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the mutations are associated with Leigh syndrome and complex I defects.

Long-term outcomes of visual motor integration and motor development children with retinopathy of prematurity.

Premature infants have a risk of neurodevelopmental deficits. Little is known, however, about how retinopathy of prematurity (ROP) affects visual motor integration (VMI), which is necessary for both fine motor skills and further school abilities. Due to the systemic escape of bevacizumab in the treatment of ROP, concerns regarding the long-term neurodevelopmental effect of the drug have arisen.

Twelve years of experience in the treatment of newborns with intrauterine gastrointestinal perforation.

Background: Meconium peritonitis occurs when meconium leaks into the peritoneal cavity as a result of intrauterine gastrointestinal perforation. In this study, we aimed to evaluate the results of newborn patients who were followed and treated due to intrauterine gastrointestinal perforation in the pediatric surgery clinic.

Methods: All newborn patients who were followed up and treated for intrauterine gastrointestinal perforation in our clinic between December 2009-2021 were analyzed retrospectively.

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Introduction: Previous reports described a pattern of hypoglycemia-induced damage predominantly affecting the parieto-occipital regions. The long-term neurological sequelae of severe neonatal hypoglycemic encephalopathy include developmental delay, poor head growth, learning or behavioral difficulties, visual impairment, and epilepsy. This study reports neurodevelopmental outcome of children with neonatal hypoglycemia-associated parieto-occipital brain injury who were evaluated in our pediatric neurology outpatient clinic for different neurological complaints.

Are Interictal Discharges Associated with Neuronal Cell Loss in Electrical Status Epilepticus in Sleep?

Objective: Neuron-specific enolase is an established biomarker of neuronal damage. This study aimed to reveal the relationship between serum neuron-specific enolase level and continuous interictal discharges in a group of encephalopathy with electrical status epilepticus in sleep patients for the first time and determine whether there is a neuronal cell loss or damage.

Materials And Methods: We analyzed serum neuron-specific enolase levels in patients with an electrical status epilepticus in sleep pattern on their electroencephalographs with age- and sex-matched control subjects.

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.

Introduction: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. Here we reported our experience in children with CMS.

Methods: We retrospectively collected the data of 18 patients with CMS who were examined in our outpatient clinic between January 2021 and January 2022.

Sexual myths during pregnancy: a comparative study.

This study was conducted to determine the prevalence of sexual myths during pregnancy among pregnant women in Turkey and Iran and to compare the similarities and differences between the countries. This is a comparative and descriptive study. The sample included 200 pregnant women from Turkey and Iran.

Relationship Between Lactate Levels and Length of Hospital Stay in Infants with Lower Respiratory Tract Infection.

Increased lactate concentrations are directly related to the severity of shock and mortality rates. There are limited data regarding the prognostic value of lactate among lower respiratory tract infections. We aimed to investigate the impact of lactate levels on admission on the clinical outcomes of children with lower respiratory tract infections.

A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY.

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described.

An overview of smell and taste problems in paediatric COVID-19 patients.

At the start of the COVID-19 pandemic in March 2020, fever and respiratory symptoms were the indications for virus testing in our hospital. As data have continued to accumulate worldwide, gastrointestinal, neurological, cardiovascular, cutaneous and ocular symptoms have been reported for confirmed COVID-19 cases. There have been few case reports on problems with taste and smell in paediatric COVID-19.

Lipid accumulation product is a predictor of nonalcoholic fatty liver disease in childhood obesity.

Background: Lipid accumulation product (LAP) is associated with the presence and severity of nonalcoholic fatty liver disease (NAFLD) in adults.

Purpose: Here we evaluated the ability of LAP to predict NAFLD in obese children.

Methods: Eighty obese children (38 girls; age 6-18 years) were included.

The Association between Oxidative Stress and Cardiac Functions in Infants Born to Preeclamptic Mothers.

Objective: The present study aimed to assess the global oxidant and antioxidant status in infants born to preeclamptic mothers and their correlation with cardiac functions.

Study Design: We compared 40 infants born to preeclamptic mothers with 40 premature infants born to normotensive mothers. We assessed the relationship between echocardiographic measurements and total antioxidant capacity (TAC) and total oxidant status (TOS) values.

Comparison of the efficacy of parenteral and oral treatment for nutritional vitamin B12 deficiency in children.

Objective: Although, oral replacement for vitamin B12 deficiency has been proved to be effective in adults, it is mainly treated with parenteral therapy. There are only few studies on oral replacement therapy of vitamin B12 with children. Therefore, we aimed to compare the efficacy of oral treatment with intramuscular vitamin B12 injections in pediatric population.

The Efficacy of Oral Vitamin B12 Replacement for Nutritional Vitamin B12 Deficiency.

Standard treatment of vitamin B12 deficiency has not been well established in childhood, the ideal amount of supplemental vitamin B12 is not clear. Vitamin B12 deficiency is classically treated with intramuscular injections. In this study, we aimed to investigate the efficacy of oral therapy in children with vitamin B12 deficiency.

Effectiveness of a sleep education program for pediatricians.

Background: The high prevalence of sleep problems in children and long-term consequences point to the need for early effective interventions, but health-care providers have limited training in pediatric sleep medicine. The aims of this study were therefore to assess the effectiveness of a sleep health-care education program and to develop a Turkish acronym for brief sleep history taking for pediatric primary caregivers in the ambulatory setting.

Methods: This was a quasi-experimental study.