The Greek version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Greek language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients.

ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.

Background: Primary nonsyndromic vesicoureteral reflux (VUR) and VUR with renal hypoplasia/dysplasia (VUR-RHD) are common congenital anomalies of the kidney and urinary tract (CAKUT). Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD.

Methods: Single-strand conformation polymorphism (SSCP) electrophoresis or multiple restriction fragment SSCP (MRF-SSCP), followed occasionally by direct sequencing, was used to screen 103 patients and 200 controls for nucleotide changes.

Arterial hypertension during treatment with triptorelin in a child with Williams-Beuren syndrome.

Background: Arterial hypertension (AHT) is a common finding in children with Williams-Beuren syndrome (WBS). Although cardiovascular and renal abnormalities can explain the AHT in some patients with WBS, its etiology is not fully understood and most cases are considered idiopathic.

Case-diagnosis/treatment: The case is reported of a 10-year-old girl with WBS who developed severe AHT during treatment with triptorelin, a long-lasting gonadotropin-releasing hormone (GnRH) analog, administered because of early normal puberty.

Chelation therapy with oral solution of deferiprone in transfusional iron-overloaded children with hemoglobinopathies.

Iron overload in hemoglobinopathies is secondary to blood transfusions, chronic hemolysis, and increased iron absorption and leads to tissue injury requiring the early use of chelating agents. The available agents are parenteral deferoxamine and oral deferiprone and deferasirox. There are limited data on the safety and efficacy of deferiprone at a very young age.

Growth and function in childhood of a normal solitary kidney from birth or from early infancy.

Background: Children with a solitary kidney (SK) have an increased long-term risk of hypertension, albuminuria and glomerulosclerosis. In this study, we assessed the early signs of impaired glomerular filtration in children with a SK from birth or from early infancy.

Methods: Renal growth and function at ages 4-15.

Modulation of gut microbiota downregulates the development of food allergy in infancy.

In humans, microbial colonisation of the intestine begins just after birth. However, development of the normal flora is a gradual process, which is initially determined by factors such as genetic aspects, the maternal-foetal interaction, place and mode of delivery, early feedings strategies, and the use of antibiotics. Current knowledge on the significance and impact of the gut microflora on the development of the gut immune system indicates that a close relationship between allergic sensitisation and the development of the intestinal microflora may occur in infancy.

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

Unlabelled: Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood.

Changes in vascular function and structure in juvenile idiopathic arthritis.

Objective: Chronic inflammatory diseases in adults have been associated with increased cardiovascular risk and impaired vascular function. We aimed to assess the presence of early vascular dysfunction in patients with juvenile idiopathic arthritis (JIA) and investigate the role of inherent inflammatory process of JIA in vascular health.

Methods: Thirty patients with JIA (age range 7-18 years) were compared to 33 age- and sex-matched controls.

Serum adipocytokine and vascular inflammation marker levels in Beta-thalassaemia major patients.

Background/aim: The adipocytokines leptin and adiponectin represent a critical link between metabolism, immunity and chronic inflammation. A chronic vascular inflammatory state plays an important role in the pathophysiology of thalassaemia. We aimed to analyze the levels of these adipocytokines and determine any possible correlations with disease severity or vascular inflammation markers in beta-thalassaemia.

Pulmonary embolism after snake bite in a child with Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a rare, congenital, pure red blood cell aplasia owing to gene defects affecting the function of ribosomal proteins, essential for erythroid maturation. Iron overload is a serious complication of chronic transfusions, which may lead to cardiac toxicity and endothelial damage. We report a case of pulmonary embolism, observed after viper bite in a transfusion-dependent child with DBA without known inherited thrombophilic factors.

Acute febrile neutrophilic dermatosis (Sweet's syndrome) in a child, associated with a rotavirus infection: a case report.

Introduction: Sweet's syndrome characterized by fever, blood neutrophilia and inflammatory skin lesions, is rarely diagnosed in children. It presents in three clinical settings: classical Sweet's syndrome, usually after a respiratory tract infection; malignancy-associated, frequently related to acute myelogeneous leukemia; and drug-induced. We present, to the best of our knowledge, the first case of a rotavirus -infection-related Sweet's syndrome.

Cytokine and adhesion molecule expression evolves between the neutrophilic and lymphocytic phases of viral meningitis.

Viral meningitis is characterized by cerebrospinal fluid (CSF) lymphocyte pleocytosis, although neutrophils may predominate in the early phase. The T helper 1 (Th1)/Th2 cytokine balance and expression of adhesion molecules seem to be involved in the CSF chemotaxis. We aimed to determine expression of cytokines and adhesion molecules in enteroviral meningitis.

Orbital cavernous hemangioma in an infant with intracranial lesions: a case report.

Introduction: Cavernous hemangiomas of the orbit are benign vascular malformations, commonly encountered in adults. Although they are infrequent in pediatric population their diagnosis and course are of a great significance, mainly because they can cause visual disturbances such as amblyopia that can ensue, and secondarily due to their cosmetic and psychological effect. Special attention is required in follow up and treatment.

Implications of 99mTc-DMSA scintigraphy performed during urinary tract infection in neonates.

Objective: To evaluate prospectively whether normal scintigraphic results during urinary tract infections (UTIs) in neonates were predictive of the absence of dilating vesicoureteral reflux (VUR) (grade > or =III) and permanent renal damage (PRD).

Methods: Term neonates with a first symptomatic, community-acquired UTI participated in the study. Urinary tract ultrasonography and technetium-99m-labeled dimercaptosuccinic acid ((99m)Tc-DMSA) scintigraphy were performed within 72 hours after diagnosis and voiding cystourethrography within 1 to 2 months.

Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.

Experimental studies have shown that homeobox genes are essential for the development of the kidney and urinary tract. Hoxa11/Hoxd11 double mutant mice demonstrate renal agenesis or hypoplasia. Since, to our knowledge, these genes have never been examined for alterations in humans with congenital anomalies of the kidney and urinary tract (CAKUT), we investigated whether mutations of HOXA11/HOXD11 genes are associated with non-syndromal congenital renal parenchymal malformations.

Temporomandibular joint involvement in juvenile idiopathic arthritis: clinical predictors of magnetic resonance imaging signs.

The aim of the study was to define clinical predictors of magnetic resonance imaging (MRI) findings of temporomandibular joint (TMJ) involvement in juvenile idiopathic arthritis (JIA). Forty-six patients, aged 2.08-36.

Shaken baby syndrome: intending to harm or attempting to help?

Purpose: To describe the role of ophthalmologists in shaken baby syndrome evaluation.

Methods: Case report.

Results: A 3.

Masked severe stenosing ureteritis: a rare complication of Henoch-Schönlein purpura.

Henoch-Schönlein purpura (HSP)-associated stenosing ureteritis represents a rare complication of the disease, typically presenting with severe manifestations. This article reports on a 3.5-year-old boy with HSP and severe nephritis who developed a unilateral stenosing ureteritis with atypical manifestations, resulting in a nonfunctional kidney and consequent nephrectomy.

Rare combination of unilateral renal agenesis, congenital obstructive posterior urethral membrane, and enlarged prostatic utricle, with absence of hydroureteronephrosis.

The existence of congenital obstructive posterior urethral membrane (COPUM), extending proximally from the verumontanum toward the bladder neck, has been widely debated. Although COPUM often leads to chronic renal disease, a milder degree of obstruction and protective pressure pop-off mechanisms have been reported. We present a male infant with a rare combination of unilateral renal agenesis, COPUM proximally from the verumontanum to the bladder neck, and enlarged prostatic utricle.

Total hip and knee arthroplasty for juvenile rheumatoid arthritis.

We performed 23 total hip and knee arthroplasties (15 total hip and 8 total knee arthroplasties) in 18 children with juvenile rheumatoid arthritis between 1984 and 2001. The mean age at surgery was 17.8 years (range 13 to 24 years).

Angiotensin II type 2 receptor gene polymorphism in Caucasian children with a wide spectrum of congenital anomalies of the kidney and urinary tract.

The A-1332G transition of the angiotensin II type 2 receptor (AT2R) gene was found to occur more often in males with ureteropelvic (UPJO) or ureterovesical junction obstruction (UVJO). However, other studies have shown controversial results. Tauhe frequency of this polymorphism was investigated in 275 Caucasian children (153 boys, 122 girls) with a wide spectrum of congenital anomalies both of upper (165) and lower (110) urinary tract system and in 200 controls (100 boys, 100 girls).

Provocation of neurocardiogenic syncope during head-up tilt testing in children: comparison between isoproterenol and nitroglycerin.

Objective: Although nitroglycerin- and isoproterenol-augmented tilt tests are of equal value in the diagnosis of neurocardiogenic syncope in adults, no data exist in children. We compared the sensitivity and specificity of the 2 tests in a pediatric population.

Patients And Methods: We studied 85 patients (33 boys; mean age: 11.