Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

The role of rare genetic variation and the innate immune system in the etiology of multiple sclerosis (MS) is being increasingly recognized. Recently, we described several rare variants in the NLRP1 gene, presumably conveying an increased risk for familial MS. In the present study we aimed to assess rare genetic variation in the inflammasome regulatory network.

Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.

Prevalence of multiple sclerosis varies with geographic latitude. We hypothesized that this fact might be partially associated with the influence of latitude on circadian rhythm and consequently that genetic variability of key circadian rhythm regulators, ARNTL and CLOCK genes, might contribute to the risk for multiple sclerosis. Our aim was to analyse selected polymorphisms of ARNTL and CLOCK, and their association with multiple sclerosis.

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date. We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and malignant melanoma (MM).

Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-β treatment response in multiple sclerosis patients: a preliminary report.

We investigated the effect of the functional insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene on the response to interferon-β (IFN-β) therapy in Croatian and Slovenian patients with multiple sclerosis (MS). A total of 275 IFN-β treated MS patients [162 responders (Rs) and 113 nonresponders (NRs)] were genotyped by PCR. The ACE I/D genotype distribution and allele frequencies did not differ between female Rs and NRs.

The lack of association between angiotensin-converting enzyme gene insertion/deletion polymorphism and nicotine dependence in multiple sclerosis.

Objective: Blood-borne angiotensin II is generated from angiotensinogen via cleavage by renin and angiotensin-converting enzyme (ACE), an enzymatic cascade known as the renin-angiotensin system (RAS). Several lines of evidence indicate that ACE, beyond its classical role of mediating blood pressure regulation, might contribute to the etiology of substance addictions by influencing dopaminergic signaling. A functional insertion/deletion (I/D) polymorphism of the ACE gene was associated with risk for being a smoker among individuals with depression and with smoking severity in studies comprising patients with depression and healthy controls.

Angiotensin-converting enzyme insertion/deletion gene polymorphism in multiple sclerosis: a meta-analysis.

The activity of angiotensin-converting enzyme (ACE) has been increased in the blood and cerebrospinal fluid of multiple sclerosis (MS) patients. In addition, there has been suppression of disease development in experimental autoimmune encephalomyelitis after blockade of ACE. These findings suggest that ACE may play a role in the MS pathogenesis.

MMP-2 -1575G/A polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS?

Previous studies show altered activities of matrix metalloproteinase (MMP)-2 and MMP-9 in serum and cerebrospinal fluid of multiple sclerosis (MS) and neuromyelitis optica (NMO) patients. Optic neuritis (ON) is a common symptom of both disorders. Here we investigated the impacts of MMP-2 -1575G/A and MMP-9 -1562 C/T gene polymorphisms on disease phenotype in 100 MS patients with ON as a first symptom and 376 MS patients with other initial symptomatology.

CTLA-4 +49 A/G gene polymorphism in Croatian and Slovenian multiple sclerosis patients.

Polymorphisms in the CTLA-4 gene are known to be important in several autoimmune diseases, including multiple sclerosis (MS). Previous studies on the impact of CTLA-4 +49 A/G gene polymorphism have given contradictory results. We investigated the possible influence of this polymorphism on MS susceptibility and disease behaviour in Croatian and Slovenian populations.

Drug-induced aseptic meningitis, sensorineural hearing loss and vestibulopaty.

We report clinically rare and serious adverse reactions that occurred after the co-administration of ranitidine, ibuprofen and ciprofloxacin: completely reversible aseptic meningitis and irreversible bilateral sensorineural hearing loss, tinnitus, and vestibulopathy. Recurrent urinary inflammations treated with antibacterials, classic familial migraine, and allergy to trimethoprim-sulfamethoxazole and chromium were favourable predisposing factors for the adverse event in this patient. A close chronological relation between administration of drugs (especially ibuprofen) and adverse reactions was noted.

Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans.

The interleukin 7 receptor alpha single nucleotide polymorphism rs6897932 was identified as a multiple sclerosis susceptibility-modifying polymorphism in genome-wide and gene scan studies, mainly in populations in western countries. The aim of this study was to investigate the association of interleukin 7 receptor alpha rs6897932 with multiple sclerosis in populations from the Western Balkans: Serbia, Croatia, and Slovenia. A total of 678 unrelated white patients and 597 unrelated, ethnically matched healthy controls were included in the study.

Multiple sclerosis and cancers in Croatia--a possible protective role of the "Mediterranean diet".

Multiple sclerosis (MS) is an autoimmune disease triggered by a combination of genetic and environmental risk factors which are however individually insufficient to provoke the disease. Previous investigations studied the coexistence of cancer in MS patients, and only a few relations between the geographic distribution of MS and that of cancer. The aim of this research was to find an environmental link between the aetiology of MS and cancers in Croatia.

Minimization of organic content in simulated industrial wastewater by Fenton type processes: a case study.

Pre-treatment of simulated industrial wastewaters (SIM1, SIM2 and SIM3) containing organic and inorganic compounds (1,2-dichloroethane, sodium formate, sodium hydrogen carbonate, sodium carbonate and sodium chloride) by oxidative degradation using homogeneous Fenton type processes (Fe2+/H2O2 and Fe3+/H2O2) has been evaluated. The effects of initial Fe2+ and Fe3+ concentrations, [Fe2+/3+], type of iron salt (ferrous sulfate vs. ferric chloride), initial hydrogen peroxide concentration, [H2O2], on mineralization extent, i.

[Adverse effects and interactions of fluoroquinolones].

Floroquinolones are derivatives of nalidixic acid that act as a large-spectrum antibiotics. Adverse effects and interactions of the particular fluoroquinolone depend on its chemical structure and, often, on predisposing factors in patients, including the age, hidden or previous neurological diseases, metabolic disturbances, and allergies. The adverse effects do not significantly differ among different fluoroquinolones.

[Zvonimir Susić--doyen of Croatian neuropsychiatry in the 20th century].

There are three distinct phases in the life of Zvonimir Susić--neurologist, psychiatrist, forensic expert, educator, teacher, translator, and erudite of general and professional knowledge--Zagreb, Rijeka and Zadar phase. In Zagreb (1926-1946) he was promoted to physician (1932), there he was a student tutor, then the assistant at the Physiology Institute of the Medical Faculty; volunteer, hospital doctor (he got the specialization in 1938), assistant and head doctor of the Hospital for Mental Diseases in Vrapce, and the assistant professor (1941) at the Neuropsychiatric Department of the Zagreb University. In Rijeka (1947-1959) he reorganized Psychiatric and established the Neurology Department of the General Hospital "Brothers Dr.

HLA class II polymorphism in autochthonous population of Gorski kotar, Croatia.

The aim of this study was to examine frequencies and haplotypic associations of HLA class II alleles in autochthonous population of Gorski kotar (Croatia). HLA-DRB1, -DQA1 and -DQB1 alleles were determined by DNA based PCR typing in 63 unrelated inhabitants from Gorski kotar whose parents and ancestors were born and lived in tested area for at least over four generations. A total of 13 HLA-DRB1, 12 DQA1 and 14 DQB1 alleles were identified.

PAI and TPA gene polymorphisms in multiple sclerosis.

Multiple sclerosis (MS) is an immune-mediated chronic inflammatory demyelinating disease of the central nervous system. It manifests as acute focal inflammatory demyelination and axonal loss with limited remyelination and results in the chronic multifocal sclerotic plaques. Previously published data showed impaired fibrinolysis in MS.

Epidemiology of multiple sclerosis in western Herzegovina.

Objectives: To determine epidemiological rates of multiple sclerosis (MS) in western Herzegovina.

Patients And Methods: We analysed data from 81 MS patients (49 females, 32 males) on the prevalence day, 31 December 2003. Patient information was obtained from a search of all available medical records from the period 1994-2003 in the investigated area.

Woodhouse-Sakati syndrome: case report and symptoms review.

We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.

Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients.

Previous findings regarding the role of TNF-alpha-308 gene polymorphism in multiple sclerosis (MS) are contradictory. The aim of this study was to investigate the possible influence of TNF-alpha-308 polymorphism on MS susceptibility and the MS disease process in a Croatian and Slovenian population. Genotyping was performed in 338 patients and 460 healthy controls.

[Use of magnetic resonance imaging in the diagnosis and prognosis of multiple sclerosis].

Multiple sclerosis is an autoimmune disease characterized by demyelination and axonal loss. Conventional magnetic resonance imaging allows the demonstration of spatial and temporal dissemination of multiple sclerosis lesions earlier than is possible from clinical assessments. A variety of conventional magnetic resonance imaging protocols, in conjunction with clinical assessment, are now routinely used to increase the accuracy of diagnosis and long-term prognosis of multiple sclerosis.

Angiotensin-converting enzyme I/D gene polymorphism and risk of multiple sclerosis.

Objectives: Angiotensin-converting enzyme (ACE) activity is increased in blood and cerebrospinal fluid of patients with multiple sclerosis (MS). In addition, in experimental autoimmune encephalomyelitis (EAE), an animal model of MS, the blockade of ACE suppresses the disease itself. To analyze the genetic association of the ACE gene with MS, we examined ACE gene insertion/deletion (I/D) polymorphism in MS patients.

Region with persistent high frequency of multiple sclerosis in Croatia and Slovenia.

Objective: The aim of this study was to evaluate the prevalence of multiple sclerosis (MS), and to determine the clinical characteristics and the occurrence of familial MS in the Gorski kotar-Kocevje region, which was previously considered to be a region of high prevalence of MS.

Methods: All clinically and laboratory supported definite cases of MS according to Poser's criteria, living residents of the chosen area on June 1, 1999 were included in the study. The patients were ascertained through national case registers for MS at the University Medical Centers (Rijeka and Ljubljana), registries of the national associations of MS patients, as well as from the medical records of regional outpatient clinics.