APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.

In the last 20 years, discoveries about the autoimmune regulator (AIRE) protein and its critical role in immune tolerance have provided fundamental insights into understanding the molecular basis of autoimmunity. This review provides a comprehensive overview of the effect of AIRE on immunological tolerance and the characteristics of autoimmune diseases in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), which is caused by biallelic AIRE mutations. A better understanding of the immunological mechanisms of AIRE deficiency may enlighten immune tolerance mechanisms and new diagnostic and treatment strategies for autoimmune diseases.

Triggers and clinical changes of childhood primary headache characteristics during COVID-19 pandemic lockdown.

Objective: Children with primary headache are particularly vulnerable to the negative impacts of the pandemic due to factors like increased social isolation, disruption of sleep and impairment of healthy diet. We aimed to investigate the clinical changes and triggering factors for childhood primary headaches to demonstrate the impact of the pandemic lockdown.

Method: Children aged between 60 months and 18 years with headache complaint attending the general outpatient clinic between December 2019 and December 2020 were included in the study.

Aortic cusp ablation for premature ventricular contractions and ventricular tachycardia in children: a 5-year single-center experience.

Purpose: Aortic cusps might be the source of supraventricular or ventricular arrhythmias. For many years, aortic cusp ablation has been widely used to treat premature ventricular contractions (PVCs) and ventricular tachycardia (VT). However, the data on the outcomes of this procedure in children are limited.

Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inborn error of mitochondrial fatty acid oxidation and protein misfolding disorder. Our aim was to detect the number of Turkish patients diagnosed with SCADD in the literature and to determine the allele frequencies of two common variants (c.511C > T and c.

Factors associated with problematic internet use among children and adolescents with Attention Deficit Hyperactivity Disorder.

Objective: The aim of this study was to determine the association of problematic internet use with attention deficit hyperactivity disorder (ADHD), personal risk factors, and familial factors and compare with a healthy control group and investigate the risk factors.

Methods: The study sample consisted of 34 children aged 12-16 years and their families who applied to Ankara University Faculty of Medicine Department of Child and Adolescent Psychiatry with the diagnosis of ADHD. The control group consisted of 36 junior high and high school children aged 12-16 years and their families.

Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.

Kılıç M, Şenel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. Turk J Pediatr 2017; 59: 708-710.

First manifestation of citrullinemia type I as Sandifer syndrome.

Kılıç M, Altınel-Açoğlu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. Turk J Pediatr 2017; 59: 696-698.

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

Study Objective: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort.

Participants: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD.

Results: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.

Method of the diagnosis of adenoid hypertrophy for physicians: adenoid-nasopharynx ratio.

Objective: We aimed to describe the feasibility of a prediction of adenoid hypertrophy by pediatricians for diagnostic accuracy of nasopharyngeal x-ray in a pediatric unit.

Methods: Forty-six patients with a history of probable adenoid hypertrophy between January 2013 and August 2013 were included in the study. Participants were excluded from the study if they had previous adenoidectomy; anatomic anomaly in the nose, palate, or nasopharynx; and acute infection.

The relation between treatment and prognosis of childhood membranoproliferative glomerulonephritis.

Background: The prognostic factors, the outcome and the most favorable treatment regimen are not entirely known for children with membranoproliferative glomerulonephritis (MPGN). MPGN is a rarely observed disease more prevalent in adolescents, so we aimed to review the clinical and histological properties, treatments and the outcome of our patients who were diagnosed as MPGN.

Methods: Fifty-one children - diagnosed with MPGN - were selected from biopsy records in Dr.

A subcutaneous paraspinal yolk sac tumor in a child.

A 3-year-old girl underwent a surgery at an external center on July 2011 for a swelling in the left lumbar paravertebral subcutaneous region. The mass was completely excised and the pathologic diagnosis was a yolk sac tumor (YST). Laboratory tests revealed a serum α-fetoprotein level of 278 IU/mL.

Can sonographic peritoneal thickness be used to follow pediatric patients on peritoneal dialysis?

Background: Peritoneal dialysis (PD) is an effective and successful therapy for end-stage renal disease (ESRD). However, PD does not have a life-long effectiveness, and peritoneal membrane failure is commonly observed in long-term PD patients. We hypothesized that ultrasonography could be used to follow these patients.

Ventricular non-compaction in children: clinical characteristics and course.

Isolated left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculations and deep intratrabecular recesses. In this study, we aimed to identify the clinical characteristics of children with ventricular non-compaction and determine the factors affecting prognosis. We retrospectively evaluated 29 children with LVNC followed at Dr.

A new hemostatic agent--Ankaferd blood stopper: management of gastrointestinal bleeding in an infant and other experiences in children.

Ankaferd blood stopper (ABS) is a standardized medicinal plant extract that stimulates the formation of an encapsulated protein network that provides focal points for erythrocyte aggregation. It has a therapeutic potential to be used for the management of external hemorrhage. Here, the authors report an infant bleeding from peptic ulcer was stopped successfully by gastroscopic application of ABS and other cases that used topical ABS for mucosal bleedings are also presented.

An unusual case of ANA negative systemic lupus erythematosus presented with vasculitis, long-standing serositis and full-house nephropathy.

Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that may affect any organ of the body. We report here an unusual case of seronegative SLE presented as vasculitis with rash, lower gastrointestinal system bleeding and acute renal failure. The patient was a 13-year-old boy, with abdominal distention, pretibial edema, arthritis and petechia on bilateral ankles.

Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature.

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal.

Bronchopulmonary dysplasia in very low birth weight infants.

Objective: The developments in newborn care have enabled many more very low birth weight premature infants to live. The aim of our study was to determine the risk factors for bronchopulmonary dysplasia (BPD) development by evaluating mild and moderate/severe BPD in extramural neonates with a birth weight <1501 g.

Methods: A case-control study was conducted between January 1, 2004- December 31, 2006 at the Dr.

Diagnosing iron deficiency in cyanotic heart disease.

Objective: To determine the incidence of iron deficiency in children with CCHD by noninvasive, inexpensive and easy laboratory methods.

Methods: Forty four children with cyanotic congenital heart disease (CCHD), aged 6 to 48 months were included in this study. The patients were categorized as iron deficient (n:28) and iron sufficient group (n:16).

Unusually high frequency of a 69-bp deletion within the carboxy terminus of the LMP-1 oncogene of Epstein-Barr virus detected in Burkitt's lymphoma of Turkish children.

Burkitt's lymphoma (BL) in Turkish children is commonly associated with Epstein-Barr virus (EBV) infection. The C-terminus of the latent membrane protein 1 (LMP-1) of EBV is essential for transformation and the 30-bp deletion detected in this region has been implicated to be associated with a more aggressive malignant phenotype. To understand the molecular mechanisms underlying EBV pathogenesis in BL of Turkish children, we analyzed 30-bp deletion and 33-bp variable repeat regions of the LMP-1 gene from paraffin-embedded tumor tissues of 30 BL patients (mean age 5.