Biomedical subjects

A Fidziańska

Publications and source records attributed to A Fidziańska.

At least 19 recordsLinked to original sources

PubMed2005

Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD).

OBJECTIVE: The aim of the study was to analyse electromyographic changes in Emery-Dreifuss muscular dystrophy (EDMD) that are atypical for myopathy. Our special interest was focused on high amplitude polyphasic motor unit potentials (MUPs), also termed irregular MUPs. METHODS: We studied 21 EDMD patients with the diagnosis based on clinical data, DNA analysis and immunohistochemical muscle studies. Rectus femoris muscle biopsies were investigated in all affected patients. Electrophysiological investigations involved quantitative concentric needle electromyography (CNEMG) of biceps brachii (BB) and rectus femoris (RF) muscles. Simulation studies were performed to approximate the number, diameter and distribution of muscle fibers, which contribute to irregular MUPs. RESULTS: The EMG data in EDMD were compatible with myopathy. Irregular MUPs showed longer duration, larger area, size index and higher amplitude then simple ones (P < 0.05). The approximation of features of muscle fibers contributing to irregular MUP also indicated smaller (<45 microm) and larger (>55 microm) diameters than normal (50 +/- 5 microm). Muscle biopsy specimens revealed the variable muscle fiber size due to atrophy, hypertrophy, and muscle fiber splitting. CONCLUSIONS: Irregular MUPs recorded in EDMD are due to hypertrophied and atrophied fibers as well as increased fiber density. They reflect reorganization of the motor unit in a slow progression myopathic process (muscle fiber hypertrophy and splitting). SIGNIFICANCE: Irregular MUPs in EDMD most probably reflect increased variability of the muscle fiber size.

Adolescent↗

PubMed2005

Congenital myopathy with tubular aggregates and tubulofilamentous IBM-type inclusions.

We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early childhood onset of the disease, proximal weakness, lumbar hyperlordosis, and bilateral Achilles tendon contractures, were suggestive of congenital myopathy. To the best of our knowledge, the coexistence of tubular aggregates and tubulofilamentous inclusions of the IBM type in a child has never been described.

Adolescent↗

PubMed2003

CADASIL: new cases and new questions.

We described the first two unrelated Polish families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). In the morphological examination with light microscopy, two kinds of changes were observed: (1). panarteritis nodosa-like changes with eosinophilic fibrinoid necrosis of the vessel wall and perivascular inflammatory infiltrates and (2). basophilic granular material in the tunica media characteristic of CADASIL. At electron microscopy, we found deposits of granular osmophilic material (GOM) within the wall of arteries, veins and capillary vessels. Our findings imply two questions requiring further investigation: Why in the genetically determined vascular disorder are the features of systemic inflammatory vascular disease present? Why in capillary walls deprived of smooth muscle cells are deposits of GOM present?

Adult↗

PubMed2003

Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions.

We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well as intracytoplasmic and intranuclear inclusions of the inclusion body myositis-type. The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, short stature, lordosis and joint contractures were suggestive of congenital myopathy. The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.

Adolescent↗

PubMed2001

Controversies about the function of dystrophin in muscle.

Dystrophin, a product of a gene located at the chromosome Xp21 locus, is a cytoskeletal protein expressed in skeletal, cardiac and smooth muscles, and in the brain, and is located on the inner site of the plasma membrane. Dystrophin in the skeletal muscles is absent or appears only in traces in Duchenne dystrophy, it is reduced with normal/changed molecular weight in Becker dystrophy and it is absent/reduced in mdx mice. It is supposed that dystrophin acts either as a structural scaffold that supports mechanical stress in sarcolemma, or participates in regulating intracellular Ca2+ level. There are also data indicating that dystrophin takes part in force and signal transduction processes, in the aggregation of neurotransmitter receptors, and prevents an excessive generation of reactive oxygen free radical species. The main hypotheses indicate that lack of structural support, an excessive influx of Ca2+ ions into the muscle cell, or a combination of both these mechanisms in dystrophin-deficient muscle fibres, is responsible for muscle pathology in progressive muscular dystrophy. There are arguments supporting these hypotheses. There are, however, also data indicating that the presented arguments are doubtful. Despite recent advances in the knowledge of the pathogenesis of muscular dystrophies and the advent of modern techniques, we are still very far away from understanding what is the real function of dystrophin in muscle.

Animals↗

PubMed2000

Dystrophinopathies in females.

Various laboratory tests were performed to establish carriership in 24 familial and sporadic carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The activity of creatine kinase was in all females but one, very high and significantly higher in isolated carriers; quantitative EMG indicated myopathic changes, muscle biopsies revealed different degrees of changes--from a variability of muscle fibers size and central nuclei to severe dystrophic features. Immunohistochemical evaluation of dystrophin revealed, in all females but one, mosaic pattern of staining--a mixture of dystrophin-positive and dystrophin-negative fibers, the latter consist 15-30% of all fibers. Quantitative evaluation of dystrophin showed a reduced abundance with normal or abnormal molecular weight. The abnormalities were more expressed in sporadic cases. The detection of sporadic carriers, particularly the non-manifesting clinical, is a very important progress--it permits the correct diagnosis (before, these females were diagnosed as limb girdle muscle dystrophy (LGMD) and supply them with the benefit of genetic counselling, which also requires some modification.

Adolescent↗

PubMed2000

Correlative ultrastructural and immunohistochemical study of developing vascular basement membrane in postnatal rat spinal cord.

We investigated the development of vascular basement membrane in immature spinal cord vessels during rat spinal cord myelination. Correlative ultrastructural and immunohistochemical study indicated that fibronectin was the first component of extracellular matrix. Then, on the 9th postnatal day, laminin appeared. At that time, lamina lucida of vascular basement membrane was not detectable. On the 15th day, when collagen IV was visible, lamina densa and lamina lucida were occasionally observed. All components of basement membrane--fibronectin, laminin, collagen IV, alpha-2 laminin (merosin)--and ultrastructural division into two layers were detected on the 25th postnatal day. The results of this study indicates that a gradual development of endothelium in immature rat spinal cord blood vessels leads to a gradual increase of synthesis of extracellular matrix components.

Animals↗

PubMed1999

Familial inclusion body myopathy with desmin storage.

We report two adult familial cases of inclusion body myopathy (IBM) with desmin storage in skeletal muscle. Clinically, both patients presented late-onset, progressive, symmetrical, both proximal and distal muscle weakness. Muscle biopsy findings were identical in both cases and consisted of marked variability in fiber size, increased number of central nuclei and vacuolation involving 10% of fibers. Single or multiple vacuoles were located subsarcolemmally or in the center, and were rimmed by basophilic material. At the ultrastructural level, tubulofilamentous nuclear and cytoplasmic inclusions of 16-21 nm in diameter were frequently observed. In addition, large subsarcolemmal and central deposits composed of electron-dense granular material were present in many fibers. Immunocytochemistry revealed staining for desmin, vimentin and ubiquitin within both inclusions and vacuolated fibers. Possible structural and functional associations between these two types of muscle changes remain unclear. They may either represent two coexistent disease processes or merely reflect an abnormal form of muscle fiber degradation, with unidentifiable specificity.

Adult↗

PubMed1999

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion.

A 16-year-old girl with a typical features of hereditary neuropathy with liability to pressure palsies (HNPP) and deletion on chromosome 17p11.2 was described. In the mother who was asymptomatic the same genetic defect was found. In a sural nerve biopsy obtained from the girl myelin thickenings characteristic for this disease and de- and remyelination in nerve fibers were found. Special attention was paid to the occurrence of uncompacted myelin, which was present in diffuse and focal forms. It is concluded that high amount of uncompacted myelin is characteristic for HNPP and it is probably related to the under-expression of peripheral myelin protein 22.

Adolescent↗

PubMed1999

Ultrastructural features of immaturity in blood vessels of neonatal rat spinal cord.

Ultrastructural study was carried out on the lumbo-sacral segment of the spinal cord in 1, 3, 6, 9, 12, 15, 18, 21 and 25-day-old rats. Unusual features of blood vessels in postnatal life of rats were observed: capillaries with abundant endothelial cells, numerous invaginations and narrow lumen. In addition, microvilli of diverse size and number on the luminal surface of capillaries as well as larger vessels were present. They were more numerous in younger animals. An intriguing finding, not observed in older animals, was the appearance of abluminal protrusions projecting into surrounding tissue. Closed endothelial junctions were noted in all the investigated vessels. The above mentioned ultrastructural features indicate an immature character of blood vessels. The presence of this kind of vessels during the postnatal period may be connected with vascularisation of spinal cord due to the myelination process.

Age Factors↗

PubMed1998

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

We performed ultrastructural studies on nuclear abnormalities in biopsied muscles from seven patients with EDMD, of three non-related families, and two sporadic cases. The diagnosis was based on clinical data and molecular findings. We detected different degrees of abnormalities in the sarcolemmal nuclei ranging from marked condensation of chromatin to complete damage of nuclear components. Other nuclei in the same muscle cell very often appeared normal. The extrusion of nuclear chromatin into sarcoplasm as a consequence of nuclear membrane disintegration was observed in numerous nuclei. All these nuclear changes are considered to be cytological indicators of nuclear dysfunction evoked by emerin deficiency.

Cell Nucleus↗

PubMed1996

Spinal muscular atrophy in childhood.

Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data. The prolongated or markedly delayed process of muscle cell and motoneuron elimination by apoptosis seen in SMA type I is discussed according to the new finding of a gene for a neuronal apoptosis inhibitory protein that is partially deleted in children with spinal muscular atrophy.

Adolescent↗

PubMed1996

Mitochondrial encephalomyopathy of mixed MELAS type.

A 27-year-old man with slowly progressing symptoms of pigmentary retinal degeneration, cerebellar, pyramidal and extrapyramidal syndrome and atrophy of lower limb muscles, was admitted to the Department of Neurology. During the final stage of disease, generalized, tonic and clonic seizures, absence and myoclonic epilepsy as well as Jackson's motor seizures were observed. A computed tomographic (CT) scan showed a considerable atrophy of cerebellum and pons. A magnetic resonance imaging (MRI) revealed diffuse cortical and subcortical atrophy, especially in structures of posterior intracranial fossa and bilateral foci of increased signal intensity in cerebral cortex and subcortical gray structures. A morphological study of a biceps specimen revealed the presence of so called ragged-red fibers characterized by abnormal mitochondria with paracrystalline inclusions. A considerable atrophy of the central nervous system, especially of cerebral and cerebellar cortex was revealed by a macroscopic study of the brain. Numerous focal and so called pseudolaminar cortical necroses in the brain, regardless of vascular supply, with characteristic proliferation of capillary vessels were predominating in a microscopic study. The clinical data and especially histopathological features count for the diagnosis of mitochondrial encephalomyopathy of MELAS type. The presence of additional features such as pigmentary retinal degeneration, characteristic of Kearns-Sayre syndrome and myoclonic seizures typical of MERRF syndrome allows the classification of this case as mixed MELAS syndrome.

Adult↗

PubMed1995

A new familial congenital myopathy in children with desmin and dystrophin reacting plaques.

In 5 children with a progressive congenital myopathy representing 3 different families, unusual histological, immunohistochemical and ultrastructural changes in skeletal muscle have been found. Histologically, this myopathy was characterized by the presence of fine hyaline plaques devoid of oxidative as well as ATPase enzyme activities. At the ultrastructural level plaques were composed of helical filaments and amorphous dense material. Helical filament storage corresponded to strong desmin as well as ubiquitin immunoreactivity. In addition they were also dystrophin positive. The exclusive appearance of desmin, ubiquitin and dystrophin positive plaques in muscle specimens from 5 children emphasize the uniqueness of these plaques as well as this special form of a congenital myopathy.

Adolescent↗

PubMed1995

Neural cell adhesion molecule (N-CAM) as a marker of muscle tissue alternations. Review of the literature and own observations.

In this paper the expression of neural cell adhesion molecule (N-CAM) analyzed by indirect immunofluorescence on human skeletal muscle is reported. In adult human muscle N-CAM is concentrated near neuromuscular junctions and on satellite cells but is nearly undetectable in non synaptic portions of myofibers. N-CAM is abundant on myotubes and intramuscular nerves in embryonic muscle but is lost as development proceeds. After denervation N-CAM appears along the entire length of muscle fibers. In addition N-CAM is observed on the surface of regenerating muscle cells. These data suggest that N-CAM immunohistochemistry may play complement conventional technique in the diagnosis of neuromuscular diseases.

Adult↗

PubMed1994

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy.

Unusual ultrastructural changes of the nerve terminals have been found in an infant born with severe, fatal XLR form of centronuclear myopathy. Aberrant neuromuscular junctions in myotubes decorated by N-CAM were observed. The junction changes were manifested by simplification of postsynaptic membrane and paucity of secondary synaptic clefts. These resembles fetal neuromuscular junctions. The findings suggest that the expression of N-CAM by arrested myotubes may be promoted by abnormal nerve-muscle cell interactions, induced by motor endplate immaturity.

Cell Adhesion Molecules, Neuronal↗

PubMed1994

Neonatal centronuclear myopathy with N-CAM decorated myotubes.

Muscle specimens from two baby males with fatal X-linked recessive (XLR) form of central nuclear myopathy (CNM) were studied by immunochemistry using cell surface molecules (N-CAM) and by electron microscopy. In both neonates muscle fibres with morphology of myotubes strongly expressed N-CAM. The expression of N-CAM in non regenerating postnatal human muscle suggests that neonatal X-linked fatal form of CNM is characterized by arrest or delay of maturation of muscle fibres.

Antibodies↗

PubMed1994

Ultrastructure of peripheral blood lymphocytes in some degenerative central nervous system disease.

The ultrastructure of peripheral blood lymphocytes of 30 children with degenerative central nervous system diseases was analyzed. The affected children were divided into four groups. Lysosomal storage were characterized by the storage of membrane-bound inclusions in peripheral lymphocytes. Ceroidlipofuscinosis was manifested by the presence of curvilinear bodies. The appearance of abnormal mitochondria was found in mitochondrial encephalopathies. The tubuloreticular structures seen in lymphocytes of some unclassified cases suggested viral factors that acted in prenatal life. All findings confirm the role of peripheral lymphocytes analysis in the diagnosis of degenerative central nervous system diseases.

Adolescent↗