Pathogens in Pediatric Septic Arthritis: A Multi-Center Study in Turkiye (PEDSART Study).

Objectives: Septic arthritis (SA) is a serious bacterial infection that must be treated efficiently and timely. The large number of culture-negative cases makes local epidemiological data important. Accordingly, this study aimed to evaluate the etiology, clinical characteristics, and therapeutic approach of SA in children in Turkiye, emphasizing the role of real-time polymerase chain reaction (PCR) techniques in the diagnosis.

Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.

Suleiman-El-Hattab syndrome (SULEHS, OMIM #618950) is an autosomal recessive multisystem developmental disorder characterized by distinctive facial appearance, global developmental delay/intellectual disability, poor expressive speech and happy demeanor. SULEHS is an ultra-rare disorder associated with biallelic loss-of-function variants of the TASP1 gene, and up-to-date, seven patients from five families have been reported in the literature. Loss of TASP1 function has been reported to alter H3K4 histone modifications and expression of TFIIA and HOX transcription factors in the SULEHS phenotype.

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.

Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic facial features, and delayed psychomotor development caused by biallelic pathogenic variants in the FGF-1 intracellular binding protein (FIBP) gene. To date, only four patients from two families have been reported. In this report, we present a 4-year-old male patient with generalized overgrowth and delayed developmental milestones consistent with this syndrome.

Evaluation of Thiol-Disulfide Homeostasis with Electrical Status Epilepticus in Slow Sleep (ESES).

Background: Electrical status epilepticus in sleep (ESES) is an epileptic syndrome specific to childhood and has a broad clinical spectrum that included seizures, behavioral/cognitive impairments, and motor neurological symptoms. Antioxidants are seen as promising neuroprotective strategies for the epileptic state by combating the harmful effects of excessive oxidant formation in mitochondria.

Objective: This study aims to evaluate the thiol-disulfide balance and to determine whether it can be used in the clinical and electrophysiological follow-up of patients with ESES, especially in addition to the electroencephalography (EEG) examination.

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.

Interstitial lung disease (ILD) is a condition affecting the lung parenchyma by inflammation and fibrosis and can be caused by various exposures, connective tissue diseases (CTD), and genetic disorders. In this report, a family with five patients having progressive respiratory failure that begins with coughing in adolescence, followed by dyspnea and recurrent spontaneous pneumothorax, and death in early adulthood is presented. The patients were diagnosed to have ILD through clinical and radiological evaluations.

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.

Mesomelic dysplasias are a genetically and clinically heterogeneous group of diseases with more than 10 types defined. This article presents an 18-year-old female patient with normal intelligence and a multisystem phenotype including disproportionate short stature, scoliosis, mesomelic limb shortening, radial bowing, short fourth to fifth metacarpals and metatarsals, fusions in the carpal/tarsal bones, operated pes equinovarus, primary amenorrhea, uterine hypoplasia, vesicoureteral reflux, and chronic kidney disease. Whole-exome sequencing revealed a de novo heterozygous c.

Serum Zonulin Levels Are Higher Among Children with Autism Spectrum Disorders and Correlated with Social Impairment.

Objective: Zonulin is a protein that affects the integrity of intercellular connections in the intestines. It has been emphasized that autoimmune diseases as well as neurodevelopmental disorders, for example autism spectrum disorder (ASD), may occur through alterations in intestinal permeability and blood-brain barrier. We aimed to investigate the gastrointestinal permeability of individuals with ASD by determining serum zonulin levels and their relationship to symptom severity.

Overlap Stevens Johnson Syndrome/Toxic Epidermal Necrolysis developed due to the use of toxic-dose vinblastine in case of Langerhans Cell Histiocytosis(Letterer-Siwe).

Except for side effects expected standart dose use of the chemotherapeutics agents, toxic effects (poisoning) may occur if high doses of are mistakenly used in the treatment of haemato-oncological diseases and these toxic doses are usually fatal. Here, we report a case of Stevens Johnson Syndrome (SJS) / Toxic Epidermal Necrolysis (TEN) following administration of toxic dose of vinblastine by mistake. A 20-month-old male patient with a diagnosis of Langerhans Cell Histiocytosis (Letterer-Siwe) at the pediatric oncology department was admitted to intensive care unit, after having received treatment protocol consisting of vinblastine, etoposide and prednisolone, with fever, altered consciousness and decompensated shock findings.

Sepsis in a Previously Healthy Infant with Subcutaneous Nodules and Mastoid Bone Destruction.

septicemia is rare in previously healthy children. Skin lesions such as subcutaneous nodules and ecthyma gangrenosum may be the first manifestation of infection that have rarely been reported. Herein we reported a previously healthy 6-month-old boy patient who presented with suppurative otitis media, multiple nodules, septic shock, and was identified in cultures of the blood, skin lesions, and purulent material of his ears.

Successful Treatment With Bortezomib for Refractory and Complicated Acquired Thrombotic Thrombocytopenic Purpura in an Adolescent Girl.

Thrombotic thrombocytopenic purpura (TTP) is a rare, dangerous, life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia, along with organ dysfunction due to microangiopathy-related ischemia. Plasma exchange and steroids are used for initial treatment, and rituximab is often used in refractive patients. Caplacizumab, cyclophosphamide, and splenectomy are among other treatment options.

An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.

BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, OMIM 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA). This study aims to examine the consequences and pathogenicity of a novel homozygous splice site variant in BRAT1 in a patient presenting with migrating focal seizures since birth without prominent rigidity.

Giant Right Atrial Myxoma with Fulminant Progression in an Infant.

Cardiac myxoma is rare in children. Myxomas are exceedingly rare in infancy. Right atrial myxomas were recorded in a small number of case reports involving infants worldwide.

The reliability and validity of the Turkish version of the Facial Disability Index.

Purpose: To translate and cross-culturally adapt the Turkish version of the Facial Disability Index (FDI) and evaluate its psychometric properties, including reliability and validity.

Methods: Translation of the original FDI was followed by international guidelines. Paralysis classification was evaluated with House-Brackman Rating System (HBGS).

Characteristics, diagnosis, and treatment modality of pediatric patients with cystic echinococcosis: a single centre experience.

Kaman A, Tanır G, Çakmakçı E, Demir P, Öz FN, Aydın Teke T, Metin Ö, Gayretli Aydın ZG, Karaman A. Characteristics, diagnosis, and treatment modality of pediatric patients with cystic echinococcosis: a single centre experience. Turk J Pediatr 2019; 61: 704-713.

Surveillance of penicillin resistance of strains from invasive infections between 2013 and 2018 in Turkey.

() is regarded as the leading cause of bacterial meningitis in many regions of the world. The empiric antimicrobial treatment is mainly based on antimicrobial resistance and patient characteristics. We aimed to analyze susceptibility patterns of N.

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Gündüz M, Ünal Ö, Küçükçongar-Yavaş A, Kasapkara Ç. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes. Turk J Pediatr 2019; 61: 289-291.

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285.

Continuous Renal Replacement Therapy for Treatment of Severe Attacks of Inborn Errors of Metabolism.

Severe metabolic crises in children with inborn errors of metabolism can result in mortality or severe morbidities where continuous renal replacement therapy (CRRT) can be lifesaving Clinical data, the pediatric risk of mortality (PRISM) scores calculated in the first 24 hours, and pediatric logistic organ dysfunction (PELOD) scores calculated in the last 24 hours before CRRT, were studied Overall, CRRT was successful in restoring metabolic balance in 72% of patients. PELOD scores before CRRT were lower in survivors (  = 0.02).

Stigma and Discrimination Towards Mental Illness: Translation and Validation of the Turkish Version of the Attribution Questionnaire-27 (AQ-27-T).

The stigmatization towards mental illness has significant effects on the quality of life both for the people with a psychiatric disorder and their families. The aim of this study was to translate the Attribution Questionnaire-27(AQ-27) to the Turkish language, and to evaluate the reliability and validity of new Turkish version on a multi-centered selected adult sample. Cultural adaptation was implemented according to the internationally suggested method.

Neonatal hemodynamics and management of hypotension in newborns.

Hemodynamic instability is frequent in high-risk infants admitted to neonatal intensive care units. However, monitoring and treatment strategies of those conditions might show variations among the units. Different factors can compromise hemodynamic status in preterm/ term infants.

Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS.

Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The objective of this study was to investigate the possible association between VDR FokI and TaqI polymorphism and development of respiratory distress syndrome (RDS) in preterm infants. A total of 173 premature infants <34 weeks: 82 with RDS and 91 without RDS were enrolled.

Rare operations in pediatric heart surgery: Cardiac tumors in childhood.

Background: In this study, we present our 12-year experience in the surgical treatment of primary cardiac tumors in childhood.

Methods: Thirteen pediatric patients (8 males, 5 females; mean age 1.3±1.

Cutaneous Leishmaniasis in Pediatric Patients in a Single Tertiary Hospital in Ankara.

Objective: Leishmaniasis is an infectious disease that is caused by a protozoan parasite of the Leishmania genus and that occurs worldwide. Leishmaniasis is endemic in southeastern Turkey and the neighboring Middle Eastern countries. The purpose of this study was to describe the clinical characteristics of patients admitted to our hospital with a diagnosis of cutaneous leishmaniasis (CL).

Isolated thoracoschisis: Case report.

Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220.