The impact of the comorbid seizure/epilepsy on the health related quality of life in people with multiple sclerosis: an international multicentric study.

Introduction: The health-related quality of life (HRQoL) of people with (Pw) multiple sclerosis (MS) is usually deteriorated. It has been recently suggested that comorbidities may have the negative influence on the quality of life of the PwMS, but according to the best of our knowledge, only one study investigated, although in a very small cohort, the impact of individual comorbidity on the quality of life of PwMS. The aim of our investigation was to assess, in an international, multicentric study, the impact of comorbid seizure/epilepsy on the HRQoL in PwMS. Methods: We conducted cross-sectional study at numerous neurological centers in Serbia, Croatia, Bulgaria, Montenegro, Northern Macedonia, and Bosnia and Herzegovina (Federation of Bosnia and Herzegovina and Republic of Srpska). For each patient, demographic and clinical data were collected, including Expanded disability status scale (EDSS) score. Beck Depression Inventory (BDI) and the 36-Item Short Form Health Survey (SF-36) questionnaires were administered to all patients. Results: The study comprised 326 PwMS in total, 127 PwMS with seizure/epilepsy and 209 PwMS without. Both mean Physical health composite (PHC) and mental health composite (MHC) scores, were statistically significantly higher in PwMS without seizure/epilepsy, implicating worse quality of life in PwMS with comorbid seizure/epilepsy. Presence of seizure/epilepsy in pwMS was statistically significant independent predictor of both PHC and MHC, in multivariate linear regression model after adjustment for potential confounding variables. The hierarchical multivariate regression analysis was performed in order to establish the most important predictors of the PHC and MHC of the SF-36, in PwMS with seizure/epilepsy; older age, higher level of disability, as measured by EDSS, higher depression score, drug-resistant epilepsy and shorter time since last seizure were found to significantly predict worse MHC score in PwMS with seizure/epilepsy. Discussion: Our results point to the possible role of theinterventions related to the adequate control of epilepsy along with improvement of the mental health status to be important in order to reduce MS burden in the PwMS with comorbid seizure/epilepsy.

A novel VARS2 gene variant in a patient with epileptic encephalopathy.

Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies.Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation.Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.

Prevalence of severe retinopathy of prematurity in a geographically defined population in Croatia.

The aim of this study was to evaluate the prevalence of stage III of retinopathy of prematurity (ROP) among newborns of birth weight < 1500 g and gestational age (GA) < or = 32 weeks, and to compare these prevalences during two time periods (1998-2002 and 2003-2007). The investigation was conducted at the Department of Gynecology and Obstetrics, University Hospital in Rijeka, Croatia. The screening for ROP was performed by an ophthalmologist using a binocular indirect ophthalmoscope. Over a period of 10 years, there were 28,627 liveborn newborns, with 136 (0.48%) premature newborns with a birth weights < 1500 g and 226 (0.79%) newborns with GA at birth < or = 32 weeks. The proportions of survivors among newborns with birth weights < 1500 g (51.1% vs. 70.5%) and among newborns with GA at birth < or = 32 weeks (67.9% vs. 77.0%) were significantly higher in the later period. During the period 2003-2007, the proportion examined for ROP was higher among newborns with birth weight < 1500 g (52.9% vs. 97.1%) and among newborns with GA at birth < or = 32 weeks (46.5% vs. 96.9%). The prevalence of stage III ROP was significantly lower in 2003-2007 compared to that in 1998-2002 among newborns with birth weight < 1500 g (30.6% vs. 14.0%) and newborns with GA at birth < or = 32 weeks (22.4% vs. 8.8%). The prevalence of total ROP among newborns was significantly lower in 2003-2007 compared with 1998-2002. This decrease in prevalence may be explained by advances in neonatal intensive care unit, increased survival of very low birth weight infants and carefully timed retinal examinations.

Gorski Kotar--an endemic region for primary gastric non-hodgkin lymphoma?

Primary gastric non Hodgkin lymphoma (PGNHL) is a distinct group of extranodal lymphomas with interesting geographical distribution and variable prevalence in different countries. We analysed epidemiological data of our patients with PGNHL in Primorsko-goranska County. Clinical data of 30 patients with PGNHL diagnosed and treated in Clinical Hospital Center of Rijeka, Croatia between January 1995 and December 2005 were prospectively analyzed. We used statistical analysis (t-test, chi2-test) for small groups. Out of 30 pts with PGNHL, 19 were born in Primorsko-goranska County, part of Croatia situated by the Adriatic sea which consists of three regions: City of Rijeka, Islands and Gorski Kotar. 6 of 19 patients (31.6%) were originally from Gorski Kotar which made incidence rate of PGNHL in Gorski Kotar 7 times higher than in other two regions. Many authors emphasized that relative frequency of PGNHL is very variable in various countries and regions. Geographical distribution of our patients was very surprising because Gorski Kotar is the region with lowest number of citizens, rural area without any known pollutants, and ecologically one of the most preserved microsystem in this part of Croatia. Gorski Kotar is known to be an endemic region for multiple sclerosis and lyme borreliosis. Is it for PGNHL too?

Direct medical cost of children and adolescents epilepsy at a university setting in Croatia.

The aim was to study the direct medical cost of epilepsy in children and adolescents and to determine the impact of epilepsy type and child's age on total costs of treatment. One-year prospective, prevalence based, "bottom up" analyses of sixty-nine (69) children with epilepsy (International League Against Epilepsy criteria was used). Direct medical costs were calculated by summing annual costs of hospital care, outpatient visits and antiepileptic drug (AED) treatment. The average annual cost per patient was 1293.0 Euro. The costs of hospital admissions were 942.9 Euro (72%), followed by drug treatment 240.0 Euro (19%) and outpatient medical services 121.2 Euro (9%). The costs of epilepsy were significantly higher for children under 5 years of age. AED costs were statistically significantly lower for children who received traditional AED (Euro 122.0) than modern AED (571.2 Euro). The costs of epilepsy in children and adolescents in Croatia are congruent to those of developed countries. Costs significantly varied regarding the child's age. The cost of illness studies are an important first step towards the rational use of available resources.

What the Croatian doctors want to be learning about?

The aim of the study was to examine doctor's attitude about topics in continuing medical education (CME) using anonymous questionnaire that was given to the members of the Croatian Medical Association in Rijeka. The questions concerned doctor's interest of certain medical fields, influence of CME to their everyday practice, and importance of getting credits for re-licensure as a motive to participate in CME. The highest interest was shown for CME in emergency/intensive medicine and the lowest for transplantation medicine. The doctors in primary care showed statistically significantly higher interest for CME in family medicine, pulmology, rheumatology and rehabilitation medicine than hospital doctors. The influence of CME in everyday practice and the importance of getting credits for re-licensure as a reason to participate in CME, in the most cases, have been graded with medium grade 3. The results indicated the existence of specific needs in CME and stressed the importance of having CME with topics from clinical practice.

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms.

This study presents the first molecular data on the basis and the origin of Huntington disease in Croatia and is the first such analysis performed among a Slavic population. We analyzed three trinucleotide polymorphisms in the HD gene: CAG, CCG and GAG Delta2642 (E2642del) triplets. Analysis of the CAG repeat size among 44 Huntington patients (39-66 CAGs) and 51 normal individuals (9-34 CAGs) showed that the range of the repeats was similar to previous findings. The frequency of the CCG and Delta2642 polymorphic alleles on N and HD chromosomes was found to correlate well with earlier reports for Western European populations. We found significance for both the CCG7 allele (p=0.004) and the Delta2642 allele (p<0.001) among HD chromosomes. The CCG7 allele was overpresented among affected chromosomes (94.6%), but was also the most frequent CCG allele among normal chromosomes (66.7%). Interestingly, the Delta2642 allele was present on 40.5% HD chromosomes compared to only 9.8% of control chromosomes. Our results indicate that HD mutations in Croatia could be of the same origin as in Western populations and also support the multi-step hypothesis for generating new HD alleles. Similar frequencies and distributions of both the CCG and the Delta2642 polymorphisms in Croatia and Western European normal chromosomes indicate that the prevalence rate of HD in Croatia may be as high as in Western populations. Since we estimated a lower prevalence rate (1 : 100,000), we assume that there are still many misdiagnosed and/or unrecognized cases of Huntington disease in Croatia.