Hemophilia in the newborn without family history--pattern of clinical presentation of three patients.

Introduction: Hemophilia is the most frequently diagnosed inborn clotting factor deficiency in the newborn. In about half of the cases diagnosis is made during neonatal period. However, due to different clinical presentation comparing to older children, hemophilia in the newborn could be misdiagnosed, especially in the setting of negative family history.

Neonatal cellulitis and sepsis caused by group A streptococcus.

We report a case of late onset neonatal invasive group A streptococcal disease characterized with rapidly progressing cellulitis and development of sepsis. The infection was acquired from benign and mild skin infection of the child's mother. The causative agent was group A streptococcus, belonging to the emm type 53.

Coagulation disturbances in paediatric patients with hepatic veno-occlusive disease after stem cells transplantation.

Introduction: Hepatic veno-occlusive disease (VOD) is a life threatening complication after stem cells transplantation (SCT). Its prediction, precise diagnosis and treatment remain unclear.

Objective: Our goals were to determine the incidence, outcome and changes in haemostatic parameters in patients with VOD.

Cystic echinococcosis in children - the seventeen-year experience of two large medical centers in Serbia.

Cystic echinococcosis (CE) is a public health problem in countries having such endemic areas. Epidemiological studies of CE, especially pediatric, are rare. The aim of this study was to evaluate epidemiological and clinical characteristics of CE in children in Serbia.

A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia.

We report on a case of childhood B-cell lineage acute lymphoblastic leukemia (ALL). Conventional cytogenetic analysis at diagnosis showed the karyotype: 47,XY,add(3)(q?),-12,+2mar[4]/46,XY[18]. Fluorescence in situ hybridization (FISH) revealed a complex rearrangement: 47,XY,der(3)(3pter->3q29::12q13->12q24.

Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.

Unlabelled: We report different immunological phenotypes in three siblings from consanguineous family with recombinase-activating gene 1 (RAG1) gene mutations. Null mutations of RAG genes result in severe combined immunodeficiency (SCID) with absent T and B cells. Hypomorphic mutations with retained activity of RAG genes may lead to a 'leaky' SCID with some features of Omenn syndrome (OS) or typical OS.

Torsion of malignant ovarian tumors in childhood and adolescence.

Aim: To investigate the frequency of torsion of malignant ovarian tumors in children and adolescents.

Methods: We evaluated all patients treated for adnexal torsion in a tertiary care referral pediatric institution during the last 20 years. Presentation, tumor markers and pathology reports were evaluated.

Diabetic nephropathy in children and adolescents.

Type 1 diabetes mellitus (T1DM) commonly occurs in childhood or adolescence, although the rising prevalence of type 2 diabetes mellitus (T2DM) in these age groups is now being seen worldwide. Diabetic nephropathy (DN) develops in 15-20% of subjects with T1DM and in similar or higher percentage of T2DM patients, causing increased morbidity and premature mortality. Although overt DN or kidney failure caused by either type of diabetes are very uncommon during childhood or adolescence, diabetic kidney disease in susceptible patients almost certainly begins soon after disease onset and may accelerate during adolescence, leading to microalbuminuria or incipient DN.

Age-related role of ambulatory electrocardiographic monitoring in risk stratification of patients with complete congenital atrioventricular block.

Aims: The aim of the paper was to assess the importance of 24 h electrocardiographic Holter monitoring in determining predictive factors for Adams-Stokes (AS) attacks and heart failure (HF) in children and adolescents with complete congenital atrioventricular block (CCAVB).

Methods And Results: Forty-five patients were divided into two groups according to the presence of AS attacks and HF and six age-related subgroups. The following parameters of 24 h electrocardiographic Holter monitoring were analysed: (i) minimum heart rate (HR), (ii) maximum HR, (iii) average HR, (iv) daytime HR (v) rhythm and conduction disturbance.

Echocardiographic analysis of the subtypes of right ventricular restrictive physiology in surgically treated patients with tetralogy of Fallot.

Background: Our study focuses on echocardiographic assessment of the right ventricular diastolic function and adaptive right ventricular response to volume overload resulting from pulmonary and tricuspid regurgitation in surgically treated patients with tetralogy of Fallot.

Method And Results: We included 60 patients subsequent to surgical correction of tetralogy of Fallot, dividing them into two groups - a group of 18 patients with restrictive physiology, having antegrade flow to the pulmonary arteries greater than 30 centimetres per second in late diastole in five consecutive beats, and a group of 42 patients with non-restrictive physiology. Based on the cardiothoracic ratio, being more or equal to, or less than 0.

Fever of unknown origin in 185 paediatric patients: a single-centre experience.

Aim: We conducted a prospective study to evaluate the causes and outcome in children with fever of unknown origin (FUO).

Methods: From 1990 to 1999, 185 children with FUO were evaluated. Initial evaluation included routine haematological analysis, Epstein-Barr virus (EBV) serology, urine, stool or blood cultures, chest X-ray and tuberculin probe.

Rapidly growing bilateral ovarian cystadenoma in a 6-year-old girl: case report and literature review.

Background: Benign ovarian neoplasms originating from epithelial tissue are common tumors in adult women. However, they are rarely seen in the pediatric population, especially in the first decade of life.

Case: We report a case of a 6-year-old, premenarchal girl, previously healthy, with frequent micturition lasting 3 days prior to the first examination, without discomfort or pain.

Burkitt lymphoma-induced ileocolic intussusception in Wiskott-Aldrich syndrome.

A 12-year-old patient with Wiskott-Aldrich syndrome (WAS) was referred because of recurrent abdominal pain and bloody stools. Ileocolic invagination was diagnosed and resection of the terminal ileum was performed. Pathologic examination identified submucosal tumor as the leading point of intussusception.

[Therapies for Lennox-Gastaut syndrome].

The treatment of Lennox-Gastaut Syndrome (LGS) has been improved with the introduction of the new anti-epileptic drugs: lamotrigine and topiramate, the employment of a ketogenic diet, and the availability of vagal nerve stimulation. It is difficult to provide recommendations for the treatment of LGS, in the absence of comparative trials. However, suggestions can be made on the basis of the best evidence available.

Lupus nephritis in childhood: a review of 53 patients followed at a single center.

We retrospectively evaluated the clinical and histopathological features, treatment modalities, and outcome of 53 children and adolescents with biopsy-proven lupus nephritis (LN), followed between September 1983 and September 2001. The mean age (+/-SD) at the time of diagnosis of systemic lupus erythematosus (SLE) was 12.9+/-2.