Biomedical subjects

L Pazanin

Publications and source records attributed to L Pazanin.

6 recordsLinked to original sources

PubMed2005

S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.

S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encoding AdoHcy hydrolase, and has been monitored since birth. We report, as well, outcomes during therapy for both patients. The information obtained suggests that the disease starts in utero and is characterized primarily by neuromuscular symptomatology (hypotonia, sluggishness, psychomotor delay, absent tendon reflexes, delayed myelination). The laboratory abnormalities are markedly increased creatine kinase and elevated aminotransferases, as well as specific amino acid aberrations that pinpoint the aetiology. The latter include, most importantly, markedly elevated plasma AdoHcy. Plasma S-adenosylmethionine (AdoMet) is also elevated, as is methionine (although the hypermethioninaemia may be absent or nonsignificant in the first weeks of life). The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine.

Adenosylhomocysteinase↗

PubMed1993

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↗

PubMed1992

Vimentin and glial fibrillary acidic protein expression in relation to neoplastic cell differentiation in glial tumors.

In the present work the expression of vimentin and glial fibrillary acidic protein (GFAP) was determined in homotypic, transitional and heterotypic astroglial neoplastic areas and gemistocytes. The expression of these intermediate filament (IF) proteins within oligodendroglial neoplastic cells was determined as well. The intensity of vimentin and GFAP immunoreactivity as well as the number of immunoreactive cells within astroglial areas of different grades of differentiation were different. While there was no immunoreactivity within heterotypic areas, transitional areas and gemistocytes mainly show the same intensity of immunoreactivity and number of immunoreactive cells for both analyzed IF proteins. Within homotypic astroglial areas the number of GFAP positive cells and intensity of GFAP immunoreactivity were higher than the same vimentin parameters. It is well known that vimentin and GFAP may form heteropolymers both in vitro and in vivo. Transitions in vimentin/GFAP expression reflect not only normal development of astroglial cells but occur also with the induction of neoplastic process. Our results suggest that immunoreaction intensity and number of vimentin or GFAP immunoreactive cells correlates with the degree of differentiation of specific neoplastic cell populations. It is suggested that transitions in vimentin and GFAP expression occur in the course of neoplastic progression presumably by the modulation of their incorporation into the same IF system according to the degree of neoplastic cell differentiation.

Brain Neoplasms↗

PubMed1991

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↗

PubMed1990

Medullomyoblastoma.

A case of medullomyoblastoma, arising in the cerebellar vermis of a five-year-old boy, is presented. The light and electron microscopic features of the tumor are described and compared to other published cases. Within typical medulloblastoma areas light microscopy revealed signs of neuroblastic differentiation thus indicating its neuroepithelial origin. No signs of glial differentiation were found. Myogenic tumor component formed irregular, distinctly separated islands although some intermingling of two cell types was observed at the borders between the two zones. Within the myogenic tumor component, electron microscopy revealed rhabdomyoblastic elements in different stages of differentiation, frequently forming small groups encompassed by the same basement membrane. No indication of a common host cell for two cell lines was observed. No mesenchymal elements other than muscle, and no indication of possible teratoid origin of this tumor were observed. Considering histogenesis of muscle elements within this neuroepithelial tumor, the origin from multipotential neural-crest-derived ectomesenchymal cells seems the most appropriate one.

Cerebellar Neoplasms↗

PubMed1990

Dysplastic granulo-molecular hypertrophy of the cerebellar cortex (L'hermitte-Duclos disease): report of three cases.

In this paper three cases with peculiar disease of the cerebellar cortex are presented. The disease is well known as L'hermitte-Duclos disease (LDD), but nowadays it is also called "dysplastic granulo-molecular hypertrophy of the cerebellar cortex" according to the modern theories of its etiology. Curious changes of the cerebellum in LDD are probably the result of a combination of delayed migration of Purkinje cells which occurs during the intrauterine period of cerebellar development, and of reactive hypertrophy of granular cells. Presented cases of L'hermitte-Duclos disease are, according to the literature, more or less typical by their clinical appearance and by their histological findings. Our electromicroscopical data support the findings of those authors who found only axodendritic sinapses on the hypertrophied ganglion cells, according to the idea that those cells are originally granular cells of the cerebellar cortex. CT scan of all our patients revealed parallel, worm-like, hyperdense formations in a hypodense process of the cerebellum. The same picture existed in some other described patients, but attention was paid to it. We consider this picture on the computed tomography to be characteristic, if not even patognomonic for the L'hermitte-Duclos disease, which gives us an entirely new scientific contribution in the process of the diagnosis of this peculiar disease.

Adult↗