Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

The Impact of Postoperative Albumin Levels on Furosemide Efficacy in Infants with Congenital Heart Disease.

Postoperative fluid overload is associated with increased mortality and morbidity in infants with congenital heart disease (CHD). Loop diuretics, such as furosemide, are commonly used to prevent fluid overload in the postoperative period. This study aimed to investigate the effect of postoperative albumin levels on the efficacy of furosemide after surgery in infants with CHD.

Loss of Uncoupling Protein 1 Expression in the Subcutaneous Adipose Tissue Predicts Childhood Obesity.

Stimulation of thermogenesis by inducing uncoupling protein 1 (UCP1) expression in adipocytes is thought to promote weight loss by increasing energy expenditure, and it is postulated that the human newborn has thermogenic subcutaneous fat depots. However, it remains unclear whether a relevant number of UCP1-expressing (UCP1) adipocytes exist in the early postnatal life. Here we studied the distribution of UCP1 and the expression of thermogenic genes in the subcutaneous adipose tissues of the human fetus, infant and child.

Impact of Infection upon the Evolution and Outcome of Pediatric Immune Thrombocytopenic Purpura: A Comprehensive Review.

In adults with immune thrombocytopenic purpura (ITP), the identification of infection and its subsequent eradication proved to aid platelet recovery. Similar findings, at a smaller scale, were allegedly reported by some pediatric studies. This review's objective was to establish the influence of infection and its eradication upon platelet count and recovery in pediatric ITP.

Vitamin D and Its Association with Prevalence and Eradication: A Comprehensive Review.

Taking into account previous data that sustain a relationship between vitamin D deficiency and higher infection positivity rates, this review aims to assess the influence of vitamin D deficiency and/or insufficiency upon the prevalence of infection and its eradication success. Three major databases were searched for articles that analyzed a relationship between vitamin D status and infection. The literature search retrieved a total of 37 reports, after the article selection process.

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in and Genes.

Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment.

Neutrophil Extracellular Traps-DNase Balance and Autoimmunity.

Neutrophil extracellular traps (NETs) are macromolecular structures programmed to trap circulating bacteria and viruses. The accumulation of NETs in the circulation correlates with the formation of anti-double-stranded (ds) DNA antibodies and is considered a causative factor for systemic lupus erythematosus (SLE). The digestion of DNA by DNase1 and DNases1L3 is the rate- limiting factor for NET accumulation.

A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.

Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic, autoinflammatory disease caused by the loss of functional homozygous or heterozygous mutations in the ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1). A timely diagnosis is crucial to start Anti-TNF therapies that are efficacious in controlling the disease. The confirmation of DADA2 is based on DNA sequencing and enzymatic assay.

The Association among Pyoderma Gangrenosum, Ulcerative Colitis, and Hidradenitis Suppurativa and the Syndromic Hidradenitis Suppurativa Network: A Case Report.

Hidradenitis suppurativa (HS), together with other inflammatory diseases, is involved in a syndromic network where different combinations of signs and symptoms characterize the definition. The observation of the concurrent occurrence of HS, pyoderma gangrenosum (PG), and inflammatory bowel disease (IBD), in detail ulcerative colitis (UC), led the authors to describe a new association. The patient, a 36-year-old woman, who saw IBD as the first appearing condition, shortly followed by HS and PG, was referred because of a clinical situation quickly worsening.

Pulmonary hypertensive crisis: A potential reason for right ventricle and pacemaker lead failure.

Cardiac pacemakers have improved patient survival and quality of life, although malfunctions can be seen. We present the case of a girl with Seckel syndrome and congenital complete heart block. She had a single chamber permanent pacemaker in the right ventricle.

Intrauterine growth restriction: Clinical consequences on health and disease at adulthood.

Intrauterine growth restriction (IUGR) affects 10-15% of all pregnancies worldwide. IUGR may result from maternal, placental or fetal origin. Maternal malnutrition before and during pregnancy represents the most prevalent non-genetic or placental cause.

Knowledge and acceptance of influenza and pertussis vaccinations among pregnant women of low socioeconomic status in Turkey.

Pregnant women and infants are at relatively high risk for influenza- and pertussis-related morbidity and mortality. Vaccination is the most important prevention strategy for both diseases. We evaluated knowledge and acceptance of influenza and pertussis vaccinations among pregnant women.

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause.

Prevalence of Nasopharyngeal Carriage, Serotype Distribution, and Antimicrobial Resistance of Streptococcus pneumoniae among Children with Chronic Diseases.

The aim of this study was to evaluate the prevalence of nasopharyngeal (NP) carriage and the serotype distribution and antimicrobial resistance of Streptococcus pneumoniae in children with chronic diseases, which predisposes them to invasive pneumococcal disease in comparison with that in healthy children. A cross-sectional prevalence study was performed between February 2015 and February 2016 in Istanbul, Turkey. We enrolled 1,024 children with chronic diseases and 394 healthy children aged 0-18 years.

Parental knowledge and metabolic control of children and young adults with type 1 diabetes.

Introduction: The authors aimed to answer the following questions: 1) What level of knowledge of type 1 diabetes do the parents of children and young adults with this disease have? 2) Will this level of knowledge increase after 1 year of observation? 3) Does improving the knowledge of young adults and their parents result in better metabolic control of the patients?

Material And Methods: This study included 227 patients between the ages of 5 and 20 years with type 1 diabetes. The research was conducted from March 2009 to June 2011. The following two time points were examined: the beginning of the study (test 1a) and one year later (test 1b).

Sustained hyperferritinemia in a child with macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis - perforinopathy: case based review.

Çakan M, Aktay-Ayaz N, Gemici H, Annayev A, Çıtak A, Akçay A, Öztürk G. Sustained hyperferritinemia in a child with macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis - perforinopathy: case based review. Turk J Pediatr 2018; 60: 598-603.

An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review.

Çakan M, Aktay-Ayaz N, Karadağ ŞG, Keskindemirci G. An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review. Turk J Pediatr 2018; 60: 593-597.

Dent disease in Poland: what we have learned so far?

Purpose: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland.

Methods: A retrospective analysis of a national cohort with genetically confirmed diagnosis.

Subtype frequencies, demographic features, and remission rates in juvenile idiopathic arthritis - 265 cases from a Turkish center.

Juvenile idiopathic arthritis (JIA) is the most common cause of chronic arthritis in children. It is a group of heterogeneous disorders that have chronic arthritis as a common feature. It has a worldwide distribution and many studies have shown that subtype frequencies in JIA seem to be showing geographical distribution.

Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations.

Çakan M, Aktay-Ayaz N, Keskindemirci G, Karadağ ŞG. Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations. Turk J Pediatr 2017; 59: 467-470.

Trichobezoar in Vagina: Assessment for Child Sexual Abuse and Diagnostic Result of Forensic Science.

Vaginal discharge and bleeding in children require a through and thoughtful evaluation to diagnose the underlying problem including infections, sexual abuse, and vaginal foreign bodies. We report a 6-year-old girl presenting with bloody vaginal discharge, carefully evaluated for sexual abuse, and finally diagnosed as a vaginal foreign body after vaginoscopy. A rolling hair ball was extracted from the vagina and was diagnosed as trichobezoar pathologically without any endo-ecto-mesodermal residual tissue.

Genetics of Vesicoureteral Reflux.

Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children.

Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency.

Pediatric sarcoidosis comprises a spectrum of childhood granulomatous inflammatory conditions. Pathological hallmark of the disease is granuloma formation that is seen in the affected tissues and almost any organ or system can be involved. There are two forms of pediatric sarcoidosis.