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Biomedical subjects

Vida Demarin

Publications and source records attributed to Vida Demarin.

At least 19 recordsLinked to original sources

Matrix metalloproteinases and their inhibitors in different acute stroke subtypes.

The aim of the study was to determine serum levels of selected matrix metalloproteinases (MMPs) and their natural inhibitors (TIMPs) in the acute phase of different stroke types subdivided according to the Oxfordshire Community Stroke Project (OCSP) classification and the possibility of discriminating stroke types according to their levels. The study included 126 patients with acute stroke within the first 24 h of symptom onset, and 124 healthy volunteers. The stroke group had lower MMP-2 concentrations and MMP-2/TIMP-2 ratios (p<0.001) but higher TIMP-2 (p<0.001) than controls. The level of MMP-9 and the MMP-9/TIMP-1 ratio were higher in patients with total anterior circulation infarct (TACI) than in patients with other stroke subtypes according to OCSP classification (p=0.0019, p=0.0065, respectively) or in controls (p<0.0001, p=0.0024, respectively). A negative correlation of MMP-2 levels with MMP-9 and MMP-9/TIMP-1 ratio was recorded in all stroke subtypes except for TACI. Receiver operating characteristic analysis showed similar discriminating power for MMP-9 levels and Barthel index in the differential diagnosis of TACI. High MMP-9/TIMP-1 ratio (odds ratio 3.263) was associated with TACI. Our results demonstrate that the MMP-9/TIMP-1 ratio may provide information to help in assessing stroke patients in the future as a baseline biomarker of infarct extent.

Aged↗

Differences of blink-reflex abnormalities in patients suffering from idiopathic and symptomatic trigeminal neuralgia.

We investigated the brainstem blink reflex in patients suffering from idiopathic and symptomatic trigeminal neuralgia to establish possible dysfunction in the reflex cycle and determine eventual differences between the two disease types. The study included 35 patients with idiopathic disease and seven patients with symptomatic disease, their results compared with those of 50 normal controls. We stimulated the forehead afferents of the supraorbital nerve and recorded the response from both orbicularis oculi muscles. We tested latencies of bilateral late components (R2, R2'), irritative R3 component and the incidence of R3 component. The patients with idiopathic trigeminal neuralgia showed normal parameters of blink reflex, except for the greater incidence of R3 component. Patients with symptomatic trigeminal neuralgia showed prolonged latencies of R2, R2' and R3 components when stimulating the afflicted side, but no significant difference in incidence of R3 component compared with the control group. The results indicate that abnormalities of blink reflex are significantly different in the two groups of patients. The high incidence of R3 component seems to be typical of idiopathic disease, whereas the prolonged latencies of late reflex components after stimulation of the afflicted side seem to be typical for symptomatic disease. These results suggest that testing the blink reflex may prove a significant aid in distinguishing the idiopathic and symptomatic disease types.

Adult↗

Doppler ultrasonography of the vertebrobasilar circulation in patients with sudden sensorineural hearing loss.

BACKGROUND: The etiology of sudden sensorineural hearing loss (SSNHL) is still unclear and is most probably diverse. OBJECTIVE: To determine the relationship between vertebrobasilar circulation and hearing in patients with SSNHL treated with pentoxifylline. DESIGN: Case-control study of 32 consecutive patients with SSNHL. METHODS: Patients with onset of SSNHL within 72 hours were treated with pentoxifylline infusions for 10 days. Transcranial Doppler (TCD) ultrasonography of vertebrobasilar circulation and hearing levels were examined at the onset of SSNHL (before treatment), after 10 days of therapy, and after 3 months. MAIN OUTCOME MEASURES: Hearing levels and TCD ultrasonographic findings at the onset of SSNHL, after 10 days, and after 3 months. RESULTS: Patients with SSNHL had more frequent pathologic TCD ultrasonographic findings compared with a normal population. Thirteen patients with SSNHL had normal TCD ultrasonographic findings, eight had borderline findings, and six had pathologic findings, and in five patients, initially, pathologic TCD ultrasonographic findings improved during therapy. Patients with normal TCD ultrasonographic findings had an average hearing improvement of 17 dB, whereas patients with borderline and pathologic TCD ultrasonographic findings had 3 and 0 dB of average hearing improvement, respectively. The greatest improvement (28 dB) was noticed in patients who showed improvement in TCD ultrasonographic findings. CONCLUSION: Although the number of patients is small, our results led to the conclusion that SSNHL has vascular etiology, at least in some patients. Consequently, the therapy for SSNHL should depend on etiology; that is, vasoactive medications should be reserved for patients with supposed vascular etiology. TCD ultrasonography could have a role in the decision regarding the optimal treatment of SSNHL.

Adult↗

[Etiology and treatment of epilepsy in the elderly].

UNLABELLED: Epilepsy currently affects 1.0%-1.5% of elderly population, and its prevalence and incidence rise as the number of old people increases worldwide. Antiepileptic drugs are the mainstay of treatment. Their phrarmacokinetics differ in old age and polypharmacotherapy often leads to drug interactions. Many of the affected have concomitant cardiovascular, metabolic, cerebrovascular, neurodegenerative or neoplastic diseases. Antiepileptic drugs add to the burden of medication and may produce neurotoxicity or cognitive impairment. PURPOSE: To give an overview of epidemiologic data and pharmacological management of epilepsy in the elderly. It is a common and important clinical problem. The increased awareness of this phenomenon has led to better understanding of the etiology of seizures and complexity of the pharmacokinetics in the elderly. METHOD: Data of 246 patients with epilepsy admitted to our Department during the year 2001 were retrospectively analyzed. RESULTS: Forty-three (17.4%) patients were older than 65. Thirty-two (74.4%) patients, 20 male and 12 female, had a newly diagnosed epilepsy. The etiology of seizures included cerebrovascular diseases in 22 (68.8%), trauma in 4 (12.5%), primary tumors in 3 (9.4%) and metastases in 3 patients (9.4%). The initial antiepileptic drug (AED) was phenytoin in 15 (46.9%), carbamazepine in 14 (43.8%), carbamazepine plus phenytoin in 2 (6.3%), valproic acid in 1 (3.1%), diazepam in 3 (9.4%) and oxazepam in 2 (6.3%) patients. Later, during follow-up, lamotrigine was introduced in 4 (12.5%) patients as a monotherapy and in 3 (9.4%) patients as add-on therapy. Topiramate was introduced in 1 patient as monotherapy and add-on therapy each. Gabapentin was introduced in one patient as add-on therapy. CONCLUSION: Cerebrovascular disease is the most common cause of new-onset seizures in the elderly. Pharmacological treatment is complicated by the age related changes of pharmacokinetics and pharmacodynamics and drug-drug interactions. Phenytoin and sodium valproate are the first choice agents for generalized tonic-clonic seizures, with carbamazepine preferred for partial seizures. The newer AEDs, such as gabapentin and lamotrigine, also warrant some consideration as the first-line agents because of their efficacy and favorable effect profile. The optimal management of epilepsy requires rapid investigation, accurate diagnosis, effective therapy, education and assured support.

Aged↗

Mean blood flow velocities in posterior cerebral arteries during visual stimulation.

Changes of mean blood flow velocities (MBFV) in the posterior cerebral arteries (PCA) recorded during visual stimulation in a group of 51 healthy, right-handed volunteers are presented. There were 27 (52.9%) males and 24 (47.1%) females, aged 20-59 years (mean age: 36.98 years). Measurements were performed with a hand-held 2 MHz transcranial Doppler (TCD) probe through the temporal window, with the subjects' eyes open and closed, and while they were looking at constant and at flashing white light. In half of the subjects, first the right PCA was insonated and then the left PCA, while in the other half the reverse procedure was used. Statistical analysis was done using Wilcoxon's matched-pair signed-rank test. Mean MBFV value in the left PCA was 41.2+/-8.6 cm/s (mean +/- SD) with eyes open, 27.8+/-8.5 cm/s with eyes closed, 42.3+/-9.1 cm/s while looking at constant white light, and 43.0+/-9.6 cm/s while looking at flashing white light. Mean MBFV value in the right PCA was 41.7+/-8.9 cm/s with eyes open, 28.2+/-9.1 cm/s with eyes closed, 42.4+/-8.8 cm/s while looking at constant white light, and 43.4+/-9.2 while looking at flashing white light. Value differences for the left PCA, between eyes open and closed and between looking at constant white light and looking at flashing white light were statistically significant (p<0.001, z= -6.2146, and p<0.001, z= -3.4836, respectively). For the right PCA, a value difference between eyes open and closed, and between looking at constant and flashing white light was statistically significant (p<0.001, z= -6.2146 and p<0.001, z= -3.6928), but there was no significant difference between eyes open and constant white light (p=0.03, z= -2.1693). The results showed that simple visual stimulation had an effect on blood flow velocities in PCA and that it could be measured with TCD.

Adult↗

The dissections of craniocervical arteries.

Dissection of craniocervical arteries internal carotid artery (ICA), or vertebral artery (VA) is an increasingly recognized entity and infrequent cause of stroke. We investigated 8 patients (4 women and 4 men) with dissections of the craniocervical arteries. Diagnostic procedures for detection of craniocervical dissection included: extracranial ultrasound-color Doppler flow imaging (CDFI) of carotid and vertebral arteries, transcranial Doppler sonography (TCD) and radiological computed tomography (CT) and digital subtractive angiography (DSA) examinations. Ultrasound findings (CDFI of carotid and vertebral arteries) were positive for vessel dissection in seven patients (or 87.5 per cent) and negative in one patient. DSA was consistent with dissection in five patients (or 62.5 per cent), negative in one, while in two patients the examination was not performed due to known allergy to contrast media. Five patients (62.5 per cent) were treated with anticoagulants, one with suppressors of platelet aggregation, and two patients were operated. Six patients (75 per cent) after the treatment showed partial recovery of neurological defects, and an improvement of ultrasound finding of dissected arteries. In one patient, following operation, stroke developed with deterioration of motor deficit, and one patient was readmitted three months later due to a newly developed stroke and soon died. The diagnosis should be suspected in any young or middle-age patient with new onset of otherwise unexplained unremitting headache or neck ache, especially in association with transient or permanent focal neurological deficits.

Adult↗

The glutathione S-transferase polymorphisms in a control population and in Alzheimer's disease patients.

In this study, we investigated the role of glutathione S-transferase P1 (GSTP1) polymorphisms in the pathogenesis of Alzheimer's disease (AD). We genotyped the GSTP1 polymorphisms in exon 5 (A313G) and exon 6 (C341T) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 56 Croatian patients with AD and 231 controls. Distributions and frequencies of GSTP1 genetic variants were not statistically different between AD patients and healthy controls. Higher frequencies of the mutant genotypes were observed in AD patients (13% for both A313G and C341T) when compared with control subjects (7% for A313G and 8% for C341T), but association of GSTP1 GG (OR 2.057, 95% CI 0.796-5.315, p=0.094) and TT (OR 1.691, 95% CI 0.669-4.270, p=0.514) genotypes with an increased risk of AD was not confirmed by statistical analysis. The frequencies of GSTP1 alleles (A, B, C, D) did not significantly differ between AD patients and controls and they were indicated as follows: 52.7%, 15.2%, 12.5% and 19.6% for AD cases and 58.4%, 14.1%, 14.1% and 13.4% for controls. The estimation of the GSTP1 haplotype distribution showed that GSTP1*A/GSTP1*B and GSTP1*A/GSTP1*C haplotypes were less frequent, while GSTP1*B/GSTP1*B and GSTP1*C/GSTP1*D haplotypes were more frequent in AD patients than in controls. In conclusion, the involvement of GSTP1 alleles in individual susceptibility to AD was not confirmed as statistically significant in the tested Croatian Caucasian population. A possible role of GSTP1 in the complex etiopathogenesis of AD is further discussed, based on observed differences in haplotype distribution and higher frequencies of mutant genotypes in AD patients.

Adolescent↗

Soluble adhesion molecules in acute ischemic stroke.

BACKGROUND: Inflammatory adhesion molecules play a key role in the development of ischemic lesions. Elevated plasma concentrations of soluble adhesion molecules are reported in stroke patients, but data are still controversial. Our aim was to explore the potential association of plasma levels of soluble (s) intercellular and vascular cellular adhesion molecules-1 (sICAM-1 and sVCAM-1), sE-selectin and sL-selectin with acute ischemic stroke. METHODS: At our university hospital in Zagreb, Croatia, we prospectively enrolled 67 subjects with acute ischemic stroke, as well as 76 consecutive healthy individuals as controls who were visiting the centre for reasons unrelated to stroke. Serum concentrations of the molecules of interest were determined by means of quantitative sandwich enzyme immunoassay. RESULTS: Mean levels of sICAM-1 (p < 0.001), sVCAM-1 (p < 0.034) and sE-selectin (p < 0.002) were higher in patients than in controls, whereas sL-selectin was lower in patients (p = 0.043). In patients, levels of soluble adhesion molecules were independent of age and sex except for sL-selectin, which was inversely correlated with age (r = -0.260, p = 0.034) and higher in women (p = 0.006) and diabetics (n = 14; p = 0.004). Serum levels did not differ significantly with respect to carotid atherosclerotic disease, smoking status, hypertension or hypercholesterolemia. As well as correlating with each other, concentrations of soluble adhesion molecules in patients correlated with traditional biochemical markers of inflammation: total leukocyte count, erythrocyte sedimentation rate (ESR) and C-reactive protein level. Concentrations of sICAM-1 and high-density lipoprotein-cholesterol and ESR were identified as significant independent predictors/indicators of acute ischemic stroke. CONCLUSIONS: Acute ischemic stroke is associated with elevated plasma levels of sICAM-1, sVCAM-1 and sE-selectin, independent of age, sex and other recognized risk factors for stroke. Decreased levels of sL-selectin are associated with acute stroke. The observed changes in serum concentrations of adhesion molecules indicate inflammatory process occurring during acute cerebral ischemia.

Aged↗

Ultrasound measurement of the volume of musculus quadriceps after knee joint injury.

The monitoring of the recovery of femoral muscles, after the knee-joint injury, is possible by the method of ultrasound measurement of the muscular volume. In a clearly defined longitudinal study, our object was to standardize the method of ultrasound measurement of muscular volume and to evaluate its adequacy in practical application in quadriceps muscle rehabilitation. The ultrasound measurements of m. rectus femoris and m. vastus intermedius were conducted in three intervals: in the first 24 hours after the injury; after 1 week, when immobilization was removed; and after 6 weeks, when rehabilitation was finished. The study comprised 30 patients with knee-joint injury, and 30 asymptomatic subjects, who formed the control group. The results showed significant decrease of muscular volume (mm3) after joint immobilization on injured leg and a significant increase of volume after rehabilitation. The same differences were observed on healthy legs, but without significance. Within the same intervals, there were no changes in the muscular mass in the control group. M. rectus femoris was completely recovered in greater number of patients (54.1%), comparing to m. vastus intermedius (25.4%). We conclude that the ultrasound is an appropriate method for monitoring the process of muscular atrophy during immobilization, as well as the course of muscular restitution during the physical therapy.

Adult↗

Electromyographic study of the anal sphincter in women.

The objectives of this study were to identify the electromyographic (EMG) changes in the anal sphincters, and to determine whether there are myogenic or neurogenic damages to the muscles in stress incontinence in women (SI). Possible damage was expected while the number of EMG studies has reported evidence of denervation as a result of certain aethiologic factors. The intention was to determine risk factors for development of fecal incontinence. 110 women with SI and 91 women with spinal lesion (SL) were examined. The anal sphincters were examined in both groups by means of standarized EMG technique with concentric needle electrode. The results demonstrated predominatly neurogenic lesion of the anal sphincters in SL women and predominatly normal findings in SI women. The contribution of genitourinary or pelvic surgeries to the fecal incontinence in SI group has been established by means of discriminatory analysis.

Adult↗

Croatian population data for the C677T polymorphism in methylenetetrahydrofolate reductase: frequencies in healthy and atherosclerotic study groups.

BACKGROUND: The aim of this study was to investigate the frequency of C677T methylenetetrahydrofolate reductase (MTHFR) mutation in healthy Croatian volunteers and in patients with atherosclerosis. METHODS: The C677T MTHFR gene mutation was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 640 subjects, residents of the Zagreb city or Zagreb surroundings. Control group (n=298) was healthy blood donors. Patients (n=342) were divided into two groups of those with coronary heart disease, CAD (n=247) and those with >60% carotid stenosis, CS (n=95). RESULTS: CC genotype was recorded in 45% of healthy volunteers and 46% of patients (46.3% with CS and 46.2% with CAD). TC genotype was found in 49% of healthy volunteers and 45% of patients (46.3% with CS and 44.9% with CAD). There was no significant difference (p>0.05) from the control group in the genotype or allele frequency either for the overall group of patients with atherosclerosis or for the patient subgroups. CONCLUSION: The preliminary study of MTHFR polymorphism in control subjects and cardiovascular disease/carotid stenosis patients revealed that in Croats there was a low frequency of TT genotype (6% in controls vs. 9% in patients) and T allele (31% for cases and controls). Additionally, our results did not show significantly higher frequency of MTHFR mutation in CAD and CS studied groups.

Adult↗

Hormone replacement therapy--is there a place for its use in neurology?

Stroke remains the third leading cause of mortality in developed countries despite declining tendency over the past decades. As the leading cause of disability and second cause of dementia, primary prevention should be the main way to fight the disease, since therapy is not efficient enough. Several observations pointed to estrogen as a protective agent that may reduce stroke risk, however, studies have shown conflicting data. There is no strong evidence that hormone replacement therapy (HRT) increases stroke risk. Several studies have shown that HRT may reduce the risk of fatal stroke. Conflicting results have been found for Alzheimer's disease and HRT as well. An association between higher serum concentration of estradiol and decreased risk of cognitive decline has been found in some studies, supporting the hypothesis that estrogen concentration may play a significant role in brain protection. Having in mind results of recent randomized trials, it is suggested that HRT should not be recommended on general basis for the primary or secondary prevention of cardiovascular/cerebrovascular diseases or for primary prevention of degenerative diseases such as Alzheimer's disease. Osteoporosis, cognitive decline and climacteric symptoms that are likely to impact on quality of life, speak in favor for recommendation of HRT use. On the other side, family history of breast carcinoma, mastopathy, thromboembolism, in certain cases gallbladder disease, will discourage the commencement of HRT. Respecting the patient's preferences and having benefits and risks in mind as well as science advisory statements, individual counseling regarding HRT should be the leading concept in the healthcare of postmenopausal women.

Aged↗

Leukocyte lysosomal enzymes in Alzheimer's disease and Down's syndrome.

Previous studies suggested the possibility of accelerated lysosomal degradation of brain gangliosides in Alzheimer's disease (AD). As AD pathology affects both neural and nonneural tissues, the aim of this study was to determine possible changes of glycosphingolipid metabolism in available peripheral cells in AD and Down's syndrome (DS). The activities of several lysosomal enzymes involved in catabolism of gangliosides and sulfatides were measured in leukocytes from subjects with dementia of the Alzheimer type, DS, and age-matched controls, by fluorimetry and spectrophotometry using specific substrates. The results showed a statistically significant increase of beta-galactosidase activity in both dementia of the Alzheimer type and DS leukocytes when compared with age-matched controls (p <.01 and p <.05, respectively; Student's t test). Not significantly increased activities of beta-galactosidase, beta-hexosaminidase, beta-hexosaminidase A, and slightly decreased activity of arylsulfatase A were observed in control leukocytes with aging. Our results indicate that a metabolic dysfunction and the acceleration of at least some lysosomal catabolic pathways are present in AD and DS nonneural cells.

Adolescent↗

Blink reflex in the prediction of outcome of idiopathic peripheral partial facioparesis: follow-up study.

AIM: To determine the value of the blink reflex as a predictor of outcome of idiopathic peripheral partial facial paresis. METHOD: The study included 30 patients suffering from acute idiopathic peripheral facioparesis and 30 age- and sex-matched healthy controls. Patients with symptomatic disease were excluded on the basis of neuroradiologic and laboratory findings. We stimulated the supraorbital foramen and recorded the evoked response from both orbiculares oculi muscles. We measured the ipsilateral early phasic component (R1) and bilateral late tonic component (ipsilateral R2 and contralateral R2) immediately, and a week and 6 months after the first test. RESULTS: In the acute phase of idiopathic peripheral partial facioparesis, the blink reflex showed slightly prolonged latencies and greatly reduced amplitudes of both R1 and R2 and the normal latencies and amplitudes of R2. All subjects showed clinical symptoms and typical electromyographic (EMG) changes, whereas 24 had blink reflex abnormalities. One week after the onset, all patients were still symptomatic and showed EMG changes, but blink reflex abnormalities remained in only 11 patients. Six months after the onset, 21 patients became asymptomatic and showed no EMG changes, 7 had no clinical symptoms but showed chronic neurogenic EMG changes, whereas 2 showed both clinical symptoms and EMG changes. Blink reflex abnormalities were observed in 6 patients. The amplitudes of R1 immediately and one week after the onset were the best predictors of residual motor deficit. CONCLUSION: Blink reflex is a useful tool for follow-up and recovery prognosis in patients with partial idiopathic facioparesis, especially in the early recovery phase.

Adult↗

[Neurologic sequelae of bone changes in multiple myeloma and its therapy].

Multiple myeloma (MM) is a plasma cell malignancy characterized by infiltration of bone marrow, bone destruction, infiltration of soft tissues with plasma cells, and suppression of normal hematopoiesis. The production of monoclonal immunoglobulins with or without light chains is a major feature of the disease. Full spectrum of plasma cell dyscrasias include monoclonal gammapathy of undetermined significance, smouldering myeloma, indolent multiple myeloma, and fully developed, symptomatic multiple myeloma. The usual presenting features of MM include bone pain, weakness, fatigue, fever and infection. Neurologic symptoms are less common but one must not forget that MM may present with a neurologic disease. Careful neurologic history and examination are mandatory in patients with MM. Neurologic symptoms may be a direct manifestation of MM or may be due to the immune effect of monoclonal proteins directed against different neural structures. Finally, metabolic consequences (uremia, hypercalcemia, hyperviscosity) of MM may produce a broad spectrum of different neurologic symptoms including headache, blurring of vision, drowsiness, precoma, coma, vertigo, ataxia, hemiparesis and epileptiform seizures. The most common location of bone changes in MM is the thoracic spine, where it causes osteolytic changes with consequent compressive fractures. The most disastrous sequel is paraplegia. Multiple vertebral involvement with the evidence of osteolytic changes in other bones is usual, but solitary vertebral myeloma may occur. Myeloma usually involves the bone of the vertebral body and then spreads into the extradural space. However, patients with solitary extradural myeloma have been reported. Skull myeloma is frequently asymptomatic. It may grow externally or, rarely, there is intracranial expansion. Involvement of the cranial nerves is not rare, with II, V, VI, VII and VIII cranial nerves being most often affected. Isolated intracerebral plasmacytomas are extremely rare. Diagnostic approach includes plain X-rays of the skeleton, which was found to be the method of choice for demonstration of osteolytic changes, whereas magnetic resonance with gadolinium enhancement most reliably displays the degree of vertebral involvement and demonstrates any associated soft tissue mass. Current treatment of osteolytic changes in multiple myeloma include chemotherapy, radiotherapy in combination with dexamethasone, monthly infusions of bisphosphonates, surgical decompression, and kyphoplasty. Therapeutic approach is dictated by the presenting symptoms. In case of pain as the predominant symptom, treatment with chemotherapy and radiotherapy may be appropriate. Compressive symptoms are relieved with dexamethasone followed by radiotherapy and chemotherapy. Surgical decompression is used in patients with vertebral collapse and vertebral instability. Kyphoplasty is a new method used in the treatment of osteolytic changes of vertebral bodies. A viscous cement is injected into the cavity by a balloon-like inflatable bone tampon. It has been successfully employed to improve the quality of life, to reduce pain, and to increase overall functioning in patients with vertebral compression fractures by restoring most of the original height of the vertebral body. Bisphosphonates reduce pain associated with osteolytic changes in multiple myeloma, but also significantly reduce skeletal events (pathologic fracture, spinal cord compression, surgery or irradiation of bone) via unknown mechanism. It seems that bisphosphonates, by inhibiting bone resorption, alter the microenvironment in which the MM cells grow.

Central Nervous System Diseases↗

Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.

BACKGROUND: Arylsulfatase A (ASA) is a lysosomal enzyme involved in catabolism of cerebroside sulfate, whose deficiency causes metachromatic leukodystrophy, a rare autosomal recessive disorder characterized by storage of cerebroside sulfate, mainly in the nervous system. Low ASA activities have also been reported in healthy individuals and several neuropsychiatric disorders due to the condition termed ASA pseudodeficiency. The aim of this study was to establish frequency of two mutations associated with ASA pseudodeficiency in healthy individuals in the Croatian population as well as in persons with Alzheimer-type dementia and Down syndrome. METHODS: Presence of N350S and 1524+95 A-->G pseudodeficiency mutations was detected in genomic DNA extracted from leukocytes of healthy subjects (n = 125) and of patients with Alzheimer-type dementia (n = 18) and Down syndrome (n = 21). Arylsulfatase A activity was measured in leukocyte homogenates by spectrophotometry (lambda = 515 nm) using p-nitrocatechol sulfate as chromogenic substrate. RESULTS: Frequency of N350S mutation and mutation 1524+95 A-->G was estimated at 6.8 and 2.8% for healthy controls, 11 and 5.5% for Alzheimer-type dementia, and 12 and 9.5% for Down syndrome, respectively. Arylsulfatase A activity was slightly but not significantly decreased in leukocytes derived from subjects with dementia and Down syndrome in comparison with age-matched control samples. CONCLUSIONS: Frequency of two mutations associated with ASA pseudodeficiency in the Croatian population is slightly below the range reported for other populations. Additionally, despite the proposed role of arylsulfatase A pseudodeficiency as one of the predisposing factors for neuropsychiatric disorders, our preliminary results did not show significantly higher frequencies of either mutation in Alzheimer-type dementia or Down syndrome.

Adolescent↗

[Occult papillary carcinoma of the thyroid gland with unusual neurologic symptoms].

We present a patient who had progressive cognitive decline and Jackson epileptic seizures and CT scan of nonspecific multiple cortical lesions. Post mortem examination revealed multiple cortical metastases of the brain and primary occult papillary carcinoma of the thyroid gland. Solitary metastases of the left kidney and pulmonary lymphangitic spread were also present. Multiple cortical metastases of the brain from primary occult papillary carcinoma of the thyroid gland with such neurological symptoms have not been reported previously.

Brain Neoplasms↗

[Recommendations for care of patients with cerebral accident. Part One: Organization of care for patients with cerebral accidents, treatment of cerebral accident and neurorehabilitation].

Stroke is the leading cause of disability in modern society. In developed countries stroke is the second or the third cause of death, and in Croatia it is the leading cause of death. Therefore, stroke is not only a great medical, but also economic burden. Figures show that the incidence of stroke in transitional countries is increasing, so the epidemic of stroke could be expected in the forthcoming years. The Croatian Society for Neurovascular Disorders of the Croatian Medical Association and the Croatian Stroke Society wrote the recommendations for stroke management. The first part presents the recommendations for organization of stroke care, stroke treatment and neurorehabilitation, and the second part will present the recommendations for prevention of stroke.

Humans↗