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Biomedical subjects

N Barisić

Publications and source records attributed to N Barisić.

At least 19 recordsLinked to original sources

Separation of orbital contributions to the optical conductivity of BaVS(3).

The correlation-driven metal-insulator transition (MIT) of BaVS(3) was studied by polarized infrared spectroscopy. In the metallic state two types of electrons coexist at the Fermi energy: the quasi-1D metallic transport of A(1g) electrons is superimposed on the isotropic hopping conduction of localized E(g) electrons. The "bad-metal" character and the weak anisotropy are the consequences of the large effective mass m(eff) approximately 7 m(e) and scattering rate Gamma > or = 160 meV of the quasiparticles in the A(1g) band. There is a pseudogap above T(MI) = 69 K, and in the insulating phase the gap follows the BCS-like temperature dependence of the structural order parameter with Delta(ch) approximately 42 meV in the ground state. The MIT is described in terms of a weakly coupled two-band model.

Journal Article↗

Symptomatic epilepsy associated with intracranial calcifications in children with acute lymphoblastic leukemia (ALL).

Acute and long-term sequels of central nervous system (CNS) prophylaxis with irradiation and intrathecal chemotherapy in children suffering from acute lymphoblastic leukemia (ALL) include vasculopathies, leucoencephalopathies, intracranial calcifications, intellectual and neurological impairment. We report two children at the age 5 and 8 years who manifested partial motor or complex seizures and intracranial calcifications 2-4 years after the diagnosis of ALL had been established. The occurrence of these disorders was much earlier than reported in the literature. Both children received prophylactic CNS treatment with irradiation and intrathecal methotrexate (MTX). Their brain CT scans and EEG had been normal before the first epileptic seizure was registered. Children are now seizure free on carbamazepine, and a boy with complex partial and myoclonic seizures is also on valproate and vigabatrine. Symptomatic epilepsy associated with intracranial calcifications and persisting EEG changes might occur as side effects of ALL treatment.

Brain Diseases↗

Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.

AIM: Longitudinal assessment of clinical and neurophysiological abnormalities in childhood and adolescence and incidence analysis of tandem Charcot-Marie-Tooth disease type 1A gene duplication in Croatian children with Charcot-Marie-Tooth type 1 neuropathy. METHODS: Eight Croatian children with Charcot-Marie-Tooth type 1 neuropathy, aged 4-19 years, were studied clinically, neurophysiologically, and neuropathologically during 1-11 years of follow-up. All children were examined at least once, and in 4 children the measurements were repeated. Molecular genetic analysis was performed in all patients and their family members in order to determine the presence of the Charcot-Marie-Tooth disease type 1A duplication on chromosome 17p11.2-p12, using restriction fragment length polymorphic and short tandem repeat markers. RESULTS: Clubfoot was the most frequently observed clinical feature in children under 10 years of age, whereas muscle hypotrophy, scoliosis, and contractures developed in the second decade of life. All patients showed decreased motor nerve conduction velocity (7-30 m/s) and prolonged distal motor latencies on the first and follow-up examinations. Compound muscle action potential amplitude reduction (0.1-1.25 mV) was recorded in the first and second decade of life. In 6 out of 8 children, molecular genetic studies demonstrated the presence of the 1.5 megabase tandem Charcot-Marie-Tooth disease type 1A duplication in 17p11.2-p12, mostly of paternal origin. CONCLUSION: Pronounced neurographic abnormalities and mild clinical features characterize Charcot-Marie-Tooth type 1 neuropathy in the first decade. There were no significant differences in neurographic abnormalities in the first or second decade of life between Croatian children with and without Charcot-Marie-Tooth type 1A duplication.

Adolescent↗

Assessment of war and accidental nerve injuries in children.

Eleven children with war-related peripheral nerve injury and 16 children with accident-related nerve injury between the ages of 3 and 15 years were assessed clinically and electromyoneurographically for 1-15 months. Lesions of 32 peripheral nerves were registered in children with war injuries. Children with accidentally acquired injuries had lesions of 27 peripheral nerves. A complete loss of voluntary motor unit potentials and signs of total axonal damage were recorded in the upper arms of seven of 11 children with war injuries and in five of 16 children with accidental injuries. There was a diminished number of motor unit potentials and a reduction in compound muscle action potential amplitudes, indicating partial nerve lesions, in 11 of 16 children with accidental injuries (mostly after humeral fracture) and in three of 11 children with brachial plexus war injuries. Reinnervation signs first occurred after 5-9 months (mean = 6.2 months) in war-injured children receiving conservative treatment and after 2-7 months (mean = 3.4 months) in children with accidentally acquired injuries. War-related peripheral nerve injuries in children are more frequently associated with complete denervation followed by slower or delayed nerve regeneration. In children with accidentally acquired nerve injuries the course is significantly better.

Accidents↗

Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.

Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.

Child↗

Deletion screening of the Duchenne/Becker muscular dystrophy gene in Croatian population.

The dystrophin gene deletion in 53 Duchenne and 21 Becker muscular dystrophy (DMD/BMD) male patients was analyzed by DNA test using multiplex polymerize chain reaction (M-PCR) in Croatian population. The overall percentage of deletion cases observed was 50%; 61% (53/32) for DMD and 38% (21/8) for BMD. The number of deleted exons was variable, but generally DMD deletions involving single-exon 19, 44, 50, 51 and larger exon deletions 3-6, 4-12, 4-17, 8-13, 12-13, 12-19, 48-50, 50-51, 50-52, 51-52 were more frequent. Eight patients with BMD had deletions exon 45-47, 45-48, and exon 3. The results obtained in the present study showed location of breakpoints in the dystrophin gene, and pointed to variability of deletion patterns in Croatian population among different European populations.

Adolescent↗

Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia.

Two genes, i.e. survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) have been mapped to the SMA region of chromosome 5q13. Both genes are frequently deleted or truncated in SMA patients. We have studied 26 patients with SMA types I-III, 29 first relatives, and 14 subjects with mild adult-onset type IV. DNA deletion genotypes were determined by PCR techniques amplifying exons 7 and 8 of SMN, and exon 5 of NAIP gene which distinguish SMN and NAIP telomeric copy from a non-pathogenic gene homologue as a centromeric copy. Results revealed the homozygous deletions of exon 7 and 8 of the SMN gene and exon 5 of the NAIP gene in 3/3 infants with SMA I and in 1/20 with SMA type II. Exons 7 and 8 of the SMN gene were homozygously deleted in 10/20 and only exon 7 in 6/20 children with SMA type II. The overall percentage of deletion cases observed was 77% in children with SMA types I-III. Adult patients with type IV SMA showed no homozygous deletion of exons 7, 8 and 5 of the SMN and NAIP genes. Also, all relatives had both a telomeric and centromeric SMN and NAIP copy. Deletion analysis of SMN and NAIP genes are a significant diagnostic tool, because there are clinical entities resembling SMA which most likely have another pathogenetic background.

Adult↗

Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child.

A 14-year old boy was admitted for signs of heart failure and scapuloperoneal muscle weakness. He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy. There was also a moderate increase in pulmonary vascular resistance. The immunohistochemical examination of the heart muscle revealed a slightly positive phytohemagglutinin reaction and minimal IgM deposits without complement. The electron microscopy examination disclosed increased numbers of abnormal mitochondria disrupting the usual cell structure; the mitochondria were of various sizes with irregular and abnormal structure of the cristae. The scapuloperoneal spinal muscular atrophy was mild and diagnosed according to clinical and electromyographic findings. Light microscope examination of the skeletal muscle revealed hypotrophic fibers. This patient is presumed to have postinflammatory mitochondriopathy and is currently being managed on low-dose digitalis, diuretics and captopril.

Adolescent↗

Cardiomyopathies in children with neuromuscular disorders.

In this paper eight patients with myogenic or neurogenic muscle disorders are presented, in whom cardiomiopathy was also found. Six patients developed a dilated cardiomiopathy associated with neurogenic atrophies or progressive muscular dystrophy. In patients with Mb. Friedreich and HSNM type II together with the total dilatation of the septum hypertrophy was observed and in patients with spinal muscular amyotrophy of scapuloperoneal type atriomyopathy dominated. In two patients with mitochondrial disorders a hypertrophic cardiomyopathy was found. One of them had mitochondrial encephalomyoneuropathy and the other mitochondrial encephalopathy with myoclonic epilepsy. In none of them a restrictive cardiomyopathy was found. From the presentation could be concluded that in neurogenic muscle diseases and progressive muscular dystrophy respectively most frequently dilated cardiomyopathies have been developed. Hypertrophic cardiomyopathies are usually found in children with mitochondrial disorders.

Adolescent↗

Non-surgical treatment of the solitary brain abscess in children.

In a ten year old girl with operated congenital heart defect: pulmonary stenosis, a solitary brain abscess developed in the right frontotemporal region after teeth extraction. The clinical disease was manifested with fever, headache and by tonic epileptic seizure of the grand mal type dominating on the left side. Suspicion of the abscess existence has been raised on the basis of the EEG finding and proved by the brain CT scan. Agent has not been identified, most probably due to antibiotic therapy applied prior to admission. We decided for the antibiotic treatment with benzilpencillin (500,000/kg/day), chloramphenicol (50 mg/kg/day) cloxacillin (130 mg/kg/day) intravenously during 4 weeks. Clinical improvement of the condition, the EEG and CT findings occurred two weeks after the beginning of the therapy. After a month further marked improvement of the EEG findings occurred as well as the disappearance of the abscess cavity. Three months after the completed therapy the control EEG and the brain CT scan were normal. The girl having been followed up for three years is growing normal and has completely normal neurologic findings.

Anti-Bacterial Agents↗

Steroid responsive familial neuropathy with liability to pressure palsies.

Autosomal dominant motor and sensory neuropathy with liability to pressure palsies was studied in three members of the same family. Only one of two monozygotic twin sisters was clinically affected. She developed unilateral peroneal palsy twenty minutes following local pressure. Electromyography revealed a weak intermediate innervation pattern with very rapid action potentials in the right anterior lower leg muscle. A 25-70 per cent reduction of motor and sensory conduction velocity was recorded in the clinically unaffected twin sister and in the father. The electrophysiological findings in the mother were normal. The sural nerve biopsy revealed "sausage-like" formations. The palsy persisted for two months and disappeared after eight weeks of fluocortolon treatment. It is possible that the myelin sheaths acted as antigen.

Biopsy↗

[Cardiomyopathy in children].

Cardiomyopathies (CMP) are rare diseases in childhood. There are three different types (dilated, hypertrophic and restrictive). Exact epidemiologic drawing are not well-known, and the numerous nosologic problems still exist. The basic classification distinguishes primary (not well-knows cause) and secondary CMP (cardiac changes have been developed as any influence of the well-known diseases of the cardiovascular system). Dilated forms make 55%, hypertrophic 40% and restrictive only 5% of all CMP. The tendency of this paper is introduce the knowledge of new approaches to cardiomyopathies, the definition of which was taken at 1983. The mean consideration includes etiology and therapeutic approach of different types of CMP. The chapter on dilated CMP was mainly aimed to discuss their development after virus myocarditis, immunologic processes and complicated therapeutic treatment (different in acute, subacute and chronic phase). The purpose of this paper is to call the attention on the CMP in children, as the main problem in pediatric cardiology after congenital heart diseases.

Cardiomyopathies↗

[Monozygotic twins with centrotemporal spikes on the electroencephalogram--differences in clinical manifestations and the effect of valproate therapy].

Monozygotic twin sisters who had almost identical electroencephalographic abnormalities, but different clinical features and different response of this abnormalities to valproate at the age of 6 years are described. One twin was admitted to the hospital because of numerous brief myotonic seizures of sudden onset with corresponding abnormalities in the electroencephalogram. The seizures disappeared completely and the electroencephalogram became normal within a week of treatment with valproate. The other twin never had any seizures. However, her electroencephalogram repeatedly showed impressive abnormalities and the therapy with valproate had no substantial effect on these abnormalities. We believe this twins to be a suitable model for studying the inheritance of epilepsy and electroencephalographic abnormalities, as well as for studying the action of antiepileptic drugs. At this moment, it is not possible to offer any reasonable explanation for the normalization of the electroencephalographic abnormality during valproate treatment in the clinically affected twin, while the electroencephalogram remained abnormal in the clinically unaffected twin.

Child↗

[Toxic effects of lead in children in 2 case reports].

The authors present the diagnostic examinations used in two boys 12 and 14 years of age exposed to lead in an unusual way. No specific treatment was required except the removal from the further exposition to lead. The information provided by this presentation may form a reminder to general practitioners on possible etiologic part of lead intoxication in numerous non-typical, subclinical forms of diseases. Therefore, diagnostic methods, staging of the disease, specific treatment, and prevention are also discussed.

Adolescent↗