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Case Reports 2010; 31(Suppl 2): 5-7 PubMed PMID: 21187823 Citation  Keywords:  Disease Progression, Fatal Outcome, Humans, Incidence, Infant, Newborn, Male, Metal Metabolism, Inborn Errors:complications, Molybdoferredoxin, Neurodegenerative Diseases:diagnosis, Slovakia:epidemiology,.   

OBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease.

RESULTS: In a case of a term newborn with numerous dysmorphic features, with seizure activity from the 3rd day of life, hypertonia and serious changes on brain parenchyma were presented. Diagnosis of molybdenum cofactor deficiency was confirmed by the decreased level of uric acid, 31 μmol/l, in serum, increased excretion of thiosulfate and S-sulfocysteine in urine, taurine (1729.3 μmol/mmol crea; normal range 30-300 μmol/mmol crea) and xanthine (276.9 μmol/mmol crea; normal range < 25 μmol/mmol crea) in urine. Sulfite oxidase activity on skin fibroblasts in culture was not detectable. The patient died at the age of 28 days of life.

CONCLUSION: Deficiency of molybdenum cofactor leads to accumulation of toxic metabolites (levels of sulfite), which causes disturbances of neurotransmitters even before delivery. Therapy is symptomatic, no effective therapy is available. Seizures are difficult to suppress. This case report is about the first patient in Slovakia....

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Journal Article 2009; 30(4): 482-486 PubMed PMID: 20010488 Citation  Keywords:  Adult, Brain Diseases:complications, Child, Cohort Studies, Epilepsy:epidemiology, Hospitalization:statistics & numerical data, Humans, Incidence, Retrospective Studies, Seizures, Febrile:epidemiology, Slovakia:epidemiology, Substance-Related Disorders:co.   

BACKGROUND: Approximately 5% of the general population experiences at least one unprovoked epileptic seizure in the lifetime. This is in contrast to the cumulative incidence of epilepsy (approx. 3-4%) and incidence of acute symptomatic seizures (approx. 4%). Nearly 2% of the population experiences a febrile seizure before the 5 years of age. The aim of this article was evaluation of the distribution of acute symptomatic and unprovoked seizures in our patient cohort after the solitary epileptic seizures, as well as determination of particular etiological factors responsible for the occurrence of solitary epileptic seizure.

MATERIAL AND METHODS: Our patient cohort comprised 116 patients experiencing the solitary epileptic seizure, who were hospitalised at the 1st Department of Neurology, Faculty of Medicine of Comenius University and Faculty Hospital in Bratislava, Slovakia over a period of 10 years (January 1, 1997 - January 1, 2007). It is a retrospective analysis of data from case records and health records; eventually we contacted the patients by phone or by sending a questionnaire.

RESULTS: Of the 116 patients there were 32 cases (37.12%) of an acute symptomatic seizure and 84 cases (62.88%) of an unprovoked seizure. In the group of unprovoked solitary epileptic seizures the etiological conclusions were idiopathic and cryptogenic in 35 cases (41.7%) and late symptomatic in 49 cases (58.3%). The most frequent etiological factor in the group of acute symptomatic seizures was alcohol (40.6%). In the subgroup of late symptomatic seizures the etiology was mostly vascular (17.85%).

CONCLUSION: Data management of etiological factors responsible for the solitary epileptic seizure confirmed a need for a thorough evaluation of the first epileptic seizure....

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Journal Article 2007; 28(Suppl 3): 30-31 PubMed PMID: 18030275 Citation  Keywords:  Child, Child, Preschool, Community-Acquired Infections:epidemiology, Haemophilus influenzae type b, Humans, Immunization Programs, Infant, Meningitis, Haemophilus:epidemiology, Outcome Assessment (Health Care), Slovakia:epidemiology,.   

: Despite of 10 years vaccination of all children within 1st year in Slovakia against H. influenzae, this severe infection still occurs. Among 201 cases of community acquired bacterial meningitis, 14 (7%) were caused by H. influenzae serotype B. Outcome however, after early institution of treatment was fortunately positive - only 1 patient died (7.1% mortality) and in 2 other neurologic sequellae occurred (14.3%), which were transient and mild....

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Comparative Study 2007; 28(Suppl 3): 28-29 PubMed PMID: 18030273 Citation  Keywords:  Age Factors, Community-Acquired Infections:mortality, Humans, Infant, Newborn, Malnutrition:complications, Meningitis, Bacterial:ethnology, Outcome Assessment (Health Care), Risk Factors, Roma:statistics & numerical data, Slovakia:epidemiology, Statistics.   

: Etiology and risk factors such as malnutrition, diabetes, otitis/sinusitis, alcohol abuse, tuberculosis, low birth weigh as well as mortality and neurologic sequellea in Roma ethnic minority with community acquired bacterial meningitis (CBM) was assessed and compared to all CBM cases....

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Letter 2007; 28(Suppl 3): 23-24 PubMed PMID: 18030270 Citation  Keywords:  Cross Infection:cerebrospinal fluid, Gram-Negative Bacteria:classification, Humans, Meningitis:cerebrospinal fluid, Neurosurgical Procedures:adverse effects, Postoperative Period, Slovakia:epidemiology, Streptococcal Infections:epidemiology, Surgical Woun.   

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Comparative Study 2007; 28(Suppl 3): 7-9 PubMed PMID: 18030263 Citation  Keywords:  Community-Acquired Infections:complications, Cross Infection:complications, Humans, Meningitis, Bacterial:etiology, Neurosurgical Procedures:adverse effects, Postoperative Complications:microbiology, Risk Factors, Slovakia:epidemiology, Statistics, Nonpar.   

: The aim of this study was to assess if differences in etiology and risk factors among 372 cases of bacterial meningitis acquired after surgery (PM) or in community (CBM) have impact on outcome of infected patients. Among 372 cases of bacterial meningitis within last 17 years from 10 major Slovak hospitals, 171 were PM and 201 CBM. Etiology, risk factors such as underlying disease, cancer, diabetes alcoholism, surgery, VLBW, ENT infections, trauma, sepsis were recorded and mortality, survival with sequellae, therapy failure were compared in both groups. Significant differences in etiology and risk factors between both groups were reported. Those after neurosurgery had more frequently Coagulase negative staphylococci (p<0.001), Enterobacteriaceae (p=0.01) and Acinetobacter baumannii (p=0.0008) isolated from CSF and vice versa Streptococcus pneumoniae (p<0.001), Neisseria meningitis (p<0.001) and Haemophillus influenza (p=0.0009) were more commonly isolated from CSF in CBM. Neurosurgery (p<0.001), sepsis (p=0.006), VLBW neonates (p=0.00002) and cancer (p=0.0007) were more common in PM and alcohol abuse (p<0.001) as well as otitis/sinusitis (p<0.001) and Roma ethnic group (p=0.001) in CAM. Initial treatment success was significantly more frequently observed among CAM (p<0.001) but cure after modification was more common in PM (p=0.002). Therefore outcome in both groups was similar (14.6% vs. 12.4%, p=NS)....

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Journal Article 2007; 28(Suppl 4): 8-9 PubMed PMID: 18030256 Citation  Keywords:  Aged, Aged, 80 and over, Alcohol Drinking:epidemiology, Alcoholic Beverages, Coronary Disease:epidemiology, Databases, Factual, Humans, Hypertension:epidemiology, Longevity:drug effects, Slovakia:epidemiology, Surveys and Questionnaires, Wine,.   

: There was a significant difference in occurrence of coronary hearth disease and arterial hypertension occurrence in the sample of 16,345 patients living in northeast part of Slovak republic near Polish frontier versus to the viticulture regions of Nove Zamky, Sturovo in favour of villages in Bardejov region. Another difference was that 80 years and older respondents live significantly more frequently in south Slovakian viticulture villages....

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Journal Article 2007; 28(Suppl 4): 18-19 PubMed PMID: 18030252 Citation  Keywords:  Adult, Alcoholism:complications, Community-Acquired Infections:epidemiology, Health Surveys, Humans, Male, Meningitis, Bacterial:complications, Meningitis, Pneumococcal:complications, Risk Factors, Slovakia:epidemiology, Treatment Outcome,.   

: Etiology, risk factors, treatment and outcome of 21 cases of bacterial meningitis diagnosed in excessive alcohol consumers within 5 years of national community acquired meningitis survey in Slovakia is reported....

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