Association of HLA-B27 antigen with clinical and laboratory parameters in patients with juvenile idiopathic arthritis.

Aim To analyse the association of human leukocyte antigen B27 with clinical and laboratory parameters in patients with juvenile idiopathic arthritis (JIA) at the disease onset. Methods A retrospective review of medical records of 25 HLAB27 positive and 25 HLA-B27 negative JIA patients was performed. The diagnosis of JIA was based on the 1997-2001 International League Against Rheumatism (ILAR) criteria. Collected data: age, sex, HLA- B27 antigen presence, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), rheumatoid-factor (RF), antinuclear antibody (ANA), fever, rash, uveitis, enthesitis, inflamed joints and subtype of JIA. Results HLA- B27 positive study group had more boys (p=0.01), higher erythrocyte sedimentation rate (p=0.038), higher presence of fever (p= 0.025) and enthesitis (p=0.024). Any significant difference in age of the disease onset, CRP, ANA, RF, rash, uveitis, inflamed joint and dactylitis was not noticed. The most common subtype of JIA in the HLA-B27 positive patients was ERA (60%). Conclusion This study showed that the presence of HLA- B27 antigen plays a significant role in determining the presenting clinical and laboratory characteristics in JIA patients.

Outcome of patients with infantile spasms.

PURPOSE: To assess outcome of children diagnosed with infantile spasms (IS) during the six-year-period (2002-20006), at the Pediatric Clinic of Clinical Center of University of Sarajevo, as well as to present other important clinical characteristics in this group of patients. METHODS: All patients had medical histories with detailed description orvideo recordings of their seizures, as well as profound neurological exam, series of video-EEG registrations, neuroimaging studies and laboratory studies that were possible to perform. RESULTS: Total of 19 patients with IS were treated (14 male, 5 female). Etiologically symptomatic IS were present in 78.9% of cases, cryptogenic in 21.1%. Flexor and mixed spasms were the most common (47.4% and 31.6% respectively). Therapeutic response was satisfactory: 42.1% of patients were seizure-free, 47.4% had partial response with more than 50% decrease of seizures, 10.5% had poor therapeutic response. Most of the patients were treated with polytherapy. The follow-up period was 15-70 months (mean 42.5 months). At last check-up four patients had normal development and were without seizures, two were lost to follow-up, two patients have died (21.4%, 10.5% and 10.5% respectively). Out of remaining patients seven (36.8% of total) had a severe psychomotor retardation with spastic tetraparesis, while the rest had hemiparesis and developmental difficulties. DISCUSSION: Treatment of infantile spasms presents a great challenge, especially in the developing countries like Bosnia and Herzegovina in which the treatment modalities are limited. Our results indicate that despite the lack of the proper treatment options, outcome of the patients regarding control of seizures and latter psychomotor development did not differ significantly from the reports from the other countries. CONCLUSION: Although prognosis for most patients with infantile spasms remains poor, further studies identifying predictors of favorable prognosis and recent advances in understanding the pathophysiology of infantile spasms offer hope of safer and more-effective therapies that improve long-term outcome.

Use of lamotrigine in medically intractable epilepsies in children.

Medically intractable epilepsies are defined as seizures that are not controlled after an adequate trial with 2 first-line antiepileptic drugs (AED). Evidence in the literature show that these patients have many dysfunctions in their lifes. Lamotrigine is part of group of "newer antiepileptic drugs". Goal of this paper was to show what benefit is expected with introduction of add-on therapy with lamotrigine in patients with medically intractable epilepsies. Study was done in period 2002-2007 at Paediatric Hospital in Sarajevo. Inclusion criteria were: established diagnose of epilepsy, medical intractability defined as seizures not controlled after an adequate trial with 2 first-line antiepileptic drugs, age of more than 2 years and less than 18 years. Total of 61 children were assessed, 35 male and 26 female. Average age was 61.3 months at diagnosis of epilepsy. Add-on therapy with lamotrigine started in average about sixteen months after the diagnosis, with average age at starting the therapy of 77.4 months. Predominant type of seizures were partial seizures (with or without secondary generalization) in 67.20% cases, primarily generalized tonic clonic seizures in 13.11% cases, typical and atypical absences in 11.48% cases and myoclonic seizures in 8.20% cases. Reduction in seizure frequency was very good (76-100% reduction) in 37.70% of patients, good (51-75%) in 21.31%, fair (26-50%) in 9.84 and poor (less than 25%) in 31.14%. Chances of poor outcome were greater in patients with partial seizures. Side effects were noticed in 8.2% patients (6,56% with skin rash). Lamotrigine has showed good efficacy and safety profile. It is providing new efficient and well tolerated options for treatment for medically intractable epilepsies.

Congenital malformations of the central nervous system: clinical approach.

Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. The aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department, Neonatal Intensive Care Unit and Paediatric Intensive Care Unit of Paediatric Clinic, University of Sarajevo Clinics Centre, from January 1st, 2002 to December 31st, 2006. There were total of 16520 admissions at the Paediatric Clinic over the studied period. CNS malformations, solitary or multiple, have been diagnosed in 100 patients (0,61%). The total number of various CNS malformations was 127. Lethal outcome was established in 9/100 cases (9%). The most frequent CNS malformations were neural tube defects 49/127 (38,6%). Hydrocephalus was seen in 34/127 (26,8%), microcephaly in 24/127 (18,9%), agenesis of corpus callosum in 10/127 (7,9%), Dandy Walker malformation in 6/127 (4,7%) and other CNS malformations in 4/127 (3,1%). In 20/100 of patients neural tube defect was associated with hydrocephalus (20%). CNS malformations were prenatally diagnosed in 13/100 of patients (13%). Primary prevention of CNS malformations can be improved in our country by better implementation of preconceptional folic acid therapy for all women of childbearing age. Secondary prevention by prenatal diagnosis requires advanced technical equipment and adequate education of physicians in the field of foetal ultrasonography. In our circumstances, prenatal diagnostics of CNS malformations is still not developed enough.