Breast refusal: an analysis of frequency, onset timing, recovery status, and their interplay with breastfeeding self-efficacy and maternal depression.

Objectives: This cross-sectional study aimed to explore the frequency of breast refusal (BR), associated factors including postpartum depression and breastfeeding self-efficacy, and investigate the recovery status following BR.

Methods: The survey comprised four sections, to investigate the sociodemographic characteristics of mothers and their babies, Breastfeeding Self-Efficacy Scale-Short Form (BSES-SF), the Edinburgh Postnatal Depression Scale (EPDS) of mothers, and features associated with BR. The survey was administered online to those with babies aged 0-24 months.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience.

Objective: Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.

Methods: A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities.

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10. Up until now, to our knowledge around 38 patients with PYCR2 defect have been reported.

Microcephaly in Infants: A Retrospective Cohort Study from Turkey.

Objective: Microcephaly (MC) is a clinical finding mostly reflecting deficiency of brain growth. The aim of this retrospective cohort study was to assess risk factors and follow-up features of children with MC.

Methods: Children’s personal health records (n=7580) followed between 2002 and 2020 in the Unit of a Well Child Clinic were assessed retrospectively.

Evaluation of critical congenital heart disease from 2018 to 2020 in Turkey: a retrospective cohort study.

Background: The aim of this study is to examine the features of critical congenital heart disease (CCHD).

Methods: The study was planned as a retrospective cohort study. Data for the study were obtained through national data collection systems and 2018-2020 CCHD cohort was established.

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.

Background: Phenylalanine (Phe)-restricted diet is associated with lower quality of life for patients with phenylketonuria (PKU), and a concern for caregivers of recently-diagnosed infants. Sapropterin is an oral drug used as an alternative or adjunct to dietary treatment. We have observed that some of the young infants initially managed successfully with sapropterin monotherapy have required dietary treatment in long-term follow-up.

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.

Breastfeeding and Infant Nutrition Knowledge, Attitude, and Practices of Parents.

Objective: This study aimed to evaluate the knowledge, attitude, and practices of parents about breastfeeding, complementary food, and infant nutrition who have healthy infants born at term and under 2 years of age.

Materials And Methods: This is a cross-sectional study conducted among the parents of infants who came for well-child visits to pediatric clinics of 4 hospitals. Healthy infants under 2 years of age and who had been born at term were interviewed.

Association Between Infant Sleep Location and Breastfeeding.

Studies have shown that mothers sleeping with their babies have longer breastfeeding duration. Bedsharing (BS) is thought to be a risk factor for Sudden Infant Death Syndrome. The aim was to investigate the frequency of BS and roomsharing (RS) and the effect of those on breastfeeding during the first 2 years of life.

Oxidant-antioxidant balance in girls with precocious puberty: a case-control study.

This case-control study aims to evaluate the oxidant-antioxidant balance in girls having central precocious puberty (CPP) and premature thelarche (PT). Thirty-four girls having CPP, 24 girls having PT, and 49 healthy growing girls between 7 and 9 years of age admitted to child health supervision were enrolled. Total antioxidant and oxidant capacity, myeloperoxidase, catalase, superoxide dismutase, total thiol, native thiol, and disulfide levels were analyzed in serum samples.

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented.

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.

Background: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly lethal fatty acid oxidation (FAO) disorder caused by defective acylcarnitine transport across the mitochondrial membrane. CACTD is characterized by severe episodes of hypoglycemia and hyperammonemia, seizures, cardiomyopathy, liver dysfunction, severe neurological damage, and muscle weakness. Herein, we described the clinical features, biochemical, and molecular findings of three patients with CACTD, presented with poor feeding, hypoglycemia, liver dysfunctions, and hyperammonemia, but died despite intensive treatment.

Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.

In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM_003900.

Evaluation of eating behaviors in childhood epilepsy with centrotemporal spikes: Case-control study.

Background: Psychosocial and behavioral disorders have been reported in childhood epilepsy with centrotemporal spikes (CECTS). We aimed to identify the symptoms of eating disorders in CECTS.

Methods: Patients with CECTS were recruited from the pediatric neurology outpatient clinic between September 2019 and July 2020.

Assesment of obesogenic factors in school-age children.

Background: The prevalence of obesity in childhood is increasing all over the world and the World Health Organization (WHO) regards obesity as one of the most important public health problems. The aim of our study was to investigate the changes in body mass index (BMI) in children between 6 and 11 years of age and to evaluate the factors affecting this change in two different schools.

Methods: We conducted a cross-sectional epidemiological study between January and March 2016 in two different schools.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis.

Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed.

Results: Of the 34 cases identified, 31 were confirmed (91.

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Introduction: Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of glutaryl-co-enzyme A dehydrogenase (GCDH) enzyme encoded by GCDH gene. In this study, we aim to retrospectively investigate the clinical, biochemical, and neuroradiological parameters and examine the spectrum of GCDH gene variants in Turkish patients with glutaric aciduria type 1.

Methods: This is a descriptive cross-sectional study.

Risk Factor Assessment and a Ten-Year Experience of DDH Screening in a Well-Child Population.

Aim: Risk based screening for developmental dysplasia of the hip (DDH) with ultrasound is common. However, risk factors vary from one country to the other since data are insufficient to give clear recommendations. We aimed to evaluate the risk factors for developmental dysplasia of the hip (DDH).

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect.

[Prevalence of maternal measles, rubella, mumps and varicella antibodies in the first six months of life].

The protection of infants against infections during the first few months of life is provided mainly by maternal antibodies. The presence of maternal antibodies can decrease vaccine efficacy. The waning time of maternal antibodies shows variations therefore seroepidemiological studies are important for the development of vaccination schedules.