Sleep Spindle Alterations in Children With Migraine.

Background: The modulation of thalamocortical activity is the most important site of several levels of interference between sleep spindles and migraine. Thalamocortical circuits are responsible for the electrophysiological phenomenon of sleep spindles. Spindle alterations may be used as a beneficial marker in the diagnosis and follow-up of children with migraine.

Histopathological Findings in Turkish Patients Undergoing Sleeve Gastrectomy: Is Histopathologic Examination of Sleeve Gastrectomy Specimens Clinically Important?

Purpose: Sleeve gastrectomy (SG) is a widely used surgical method in the treatment of obesity. This study aimed to reveal the histopathological changes in SG materials and to investigate the prevalence of clinically important lesions requiring follow-up.

Materials And Methods: Three hundred five patients' data who underwent SG were analyzed.

COVID-19 associated lower urinary tract symptoms in children.

Introduction: SARS-COV-2 is associated with unexpected symptoms. Several studies in adults reported urinary frequency with COVID-19. The aim of this study is to reveal lower urinary tract symptoms associated with COVID-19 (CALUTS) in children.

Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa.

Background: Glycogen storage diseases type IIIa and b (GSDIII) are rare inherited metabolic disorders that are caused by deficiencies of the glycogen debranching enzyme, resulting in the accumulation of abnormal glycogen ('limit dextrin') in the muscles. The cardiac storage of limit dextrin causes a form of cardiomyopathy similar to primary hypertrophic cardiomyopathy. Treatment with a high fat diet is controversial but we report a positive outcome in a child with cardiomyopathy.

The associations between the clinical course of children with tracheostomy and their mothers' depression, burnout, burden, and self-esteem.

Aims And Objectives: The aim of this study was to evaluate the clinical features of children with tracheostomy and the predictors of psychological status of their primary caregivers in order to determine the associations between the children's clinical course with their caregivers' psychological status.

Background: The caregivers of children with tracheostomy are responsible for providing basic tracheostomy care at home. All these responsibilities may be associated with significant changes in family members' lifestyles, daily routines and family dynamics.

Prevalence of Viruses in Acute Asthma Exacerbations in Childhood in a Hospital in West Part of Turkey.

Acute asthma exacerbations (AAE) are episodes characterized by potentially life-threatening and rapidly deteriorating asthma symptoms. Viral respiratory infections are one of the major triggers in the pathophysiology of childhood asthma exacerbations. In this study, we aimed to determine the distribution of viral agents among pediatric AAE patients.

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease.

Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data.

Evaluation of testing and vaccination status of healthcare workers in Turkey for hepatitis A: A multicenter study.

Background: This study aimed to investigate the prevalence of the disease and testing and vaccination status of healthcare workers in terms of hepatitis A infection as well as their awareness. This study is a multicenter descriptive study performed with healthcare workers.

Material And Methods: Testing status for hepatitis A, awareness of the results and vaccination status of healthcare workers were compared.

Managing adult patients with infectious diseases in emergency departments: international ID-IRI study.

We aimed to explore factors for optimizing antimicrobial treatment in emergency departments. A single-day point prevalence survey was conducted on January 18, 2020, in 53 referral/tertiary hospitals in 22 countries. 1957 (17%) of 11557 patients presenting to EDs had infections.

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.

Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 () gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE). We aimed to evaluate 3 ARCL1C patients, 2 of whom are still alive and in their childhood period, from 2 unrelated families with novel mutations, to demonstrate the clinical variability of pulmonary involvement.

Early neonatal outcomes of very-low-birth-weight infants in Turkey: A prospective multicenter study of the Turkish Neonatal Society.

Objective: To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey.

Material And Methods: A prospective cohort study was performed between April 1, 2016 and April 30, 2017. The study included VLBW infants admitted to level III NICUs.

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face.

Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presenting with left- sided ACF, thenar hypoplasia, and esophageal atresia. Ultrasonographic images of the volar surface of the left hand evidenced the absence of muscle tissue around the thenar prominence at the level of the first metacarpal bone.

Investigation of L - Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease.

Maple syrup urine disease (MSUD), also known as branched-chain α ketoaciduria, is a metabolic disorder caused by an inborn deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. Severe neurological damage occurs in most patients with MSUD although the exact mechanism of neurotoxicity still remains unknown. Studies have suggested that neuropathology in patients with MSUD may be related to oxidative stress.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and Mutations.

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in (MIM603780) and (MIM609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype of two unrelated children with a presumptive BGS diagnosis: patient 1 is a Turkish girl with short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus.

Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients.

Background Oxidative stress may be one of the causes responsible for mental retardation in phenylketonuria (PKU) patients. Phenylalanine (Phe) reduces antioxidant defense and promotes oxidative stress by causing increase in reactive oxygen-nitrogen species. Our study aimed to investigate the effect of different treatments (amino acid mixture/large neutral amino acid [LNAA] supplements) on oxidative stress which are applied to late-diagnosed patients.

Weaning practices in phenylketonuria vary between health professionals in Europe.

Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula.

Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.

Gürbüz G, Mutlu Albayrak H. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. Turk J Pediatr 2019; 61: 967-970.

Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene.

Congenital bilateral laryngeal paralysis/immobilization is an uncommon condition and has been described as isolated or accompanying to some recognizable syndromes. Heterozygous mutations in the FOXP1 gene (605515) are related with intellectual disability and, language impairment with or without autistic features. Expressive language is more affected than receptive language and more than half of the patients experience oromotor dysfunction and/or feeding difficulties.