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Biomedical subjects

H Jedrzejowska

Publications and source records attributed to H Jedrzejowska.

At least 19 recordsLinked to original sources
PubMed2003

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family.

Asparagine↗
PubMed2001

Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke.

Ischemic stroke in young adults is a well-known disease, but despite extensive clinical and laboratory investigations, its etiology remains unclear in approximately half of the cases. We examined the prevalence of factor V Leiden, the prothrombin G20210A genotype, and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in 100 patients (51 males and 49 females) who survived an ischemic stroke without a cardiac embolic source at an age < or = 45 years, and in 238 healthy control subjects from the same geographic area. The patients were selected for study only if the diagnosis of stroke was documented by computed tomography scan or nuclear magnetic resonance (NMR) of the brain, or both. Heterozygosity for the FV Leiden mutation was found in 3 patients (3.0%) and in 10 control subjects (4.2%). Two patients (2.0%) and five control subjects (2.1%) were heterozygous for the prothrombin G20210A mutation. The frequencies of the MTHFR 677TT, CT, and CC genotypes in the patient group were 12%, 37%, and 51%, respectively, and were not significantly different from those in control subjects (11%, 40%, and 49%, respectively). In conclusion, our results indicate that FV Leiden mutation, prothrombin G20210A genotype, and homozygosity for the C677T mutation in the MTHFR gene are not associated with an increased risk for ischemic stroke in young adults.

Adolescent↗
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↗
PubMed1991

Creutzfeldt-Jakob disease in young people.

Three neuropathologically confirmed cases of Creutzfeldt-Jakob disease in young people (19, 23, and 27 years of age) are described. None had received pituitary hormone therapy. At the onset of illness all patients were suspected of having SSPE or other viral encephalitis, because of the similarity of clinical symptomatology and the shift towards older age of SSPE onsets observed in Poland in recent years.

Adult↗
PubMed1990

Progressive myopathy in hyperkalemic periodic paralysis.

A progressive degenerative myopathy has been well described in hypokalemic periodic paralysis but is not as widely recognized in hyperkalemic periodic paralysis. We studied four families with the latter disease in which some members developed a progressive myopathy. Episodes of paralysis were prolonged, lasting for months in some cases, and in one case paralysis was sufficiently severe to require ventilatory support. The progressive myopathy tended to develop at a time when attacks of paralysis were decreasing in frequency. Muscle biopsy specimens showed variability in fiber size, internal nuclei, and fibers with vacuoles. Electron microscopy showed myofibrillary degeneration and tubular aggregates. An abnormal biopsy specimen was more common in older patients. Our experience suggests that a progressive myopathy is as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder.

Adolescent↗
PubMed1981

A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes.

The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of 'curvilinear bodies' and 'fingerprint profiles'. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.

Central Nervous System Diseases↗
PubMed1981

Familial neuropathy with liability to pressure palsies. Report of a case.

A case of hereditary neuropathy with liability to pressure palsies is described. The main histological findings in sural nerve were focal thickenings of myelin-"sausages", "tomaculae"-and wide variability of internodal length. Numerous fibers with signs of remyelination were present, while there was little evidence of active demyelination. There were moderate axonal changes. Electrophysiological study revealed slowed conduction velocity in peripheral nerves. The possibility of a congenital myelin defect in this disease is discussed.

Disease Susceptibility↗
PubMed1980

Neuropathy due to phytosol (agritox). Report of a case.

A case of intoxication with Phytosol (an insecticide) in a 29-year-old man is described. Ingestion of Phytosol (suicide attempt) produced signs of cholinergic crisis followed, after 16 days, by features of peripheral neuropathy and later, with the regression of signs of polyneuropathy, gradually increasing spastic paralegia. Electrophysiological investigation of nerves which were clinically moderately involved demonstrated sparing of sensory fibers and damage to motor fibers. There was no change in maximal motor conduction velocity. Histology of the clinically involved sural nerve revealed axonal changes together with demyelination, presumed to be secondary in type. This case shows that the susceptibility to delayed nervous system damage in man is greater than it might be expected from experimental studies and calls for caution in human exposure to these compounds.

Adult↗
PubMed1979

Nerve conduction in the Guillain-Barré-Strohl syndrome.

Fifty cases of the Guillain-Barré-Strohl syndrome were investigated clinically and electrophysiologically--20 in the acute phase, and 30, as a matter of followup, many years after. The sural nerve was biopsied in six cases. There was no evident correlation between clinical symptoms and slowing of motor and sensory conduction. Nerve conduction velocity became slower after the beginning of clinical improvement. The electrophysiological abnormalities concerned both sensory and motor fibers despite the frequent absence of clinical sensory manifestations. The so-called long nerves were involved earlier and more markedly than the so-called short nerves. Conduction velocity and distal latency were equally affected. A slight electrophysiological defect was noticeable even many years after the acute phase of the syndrome, in completely symptoms free patients. Some correlation existed between conduction velocity changes and histological findings.

Acute Disease↗
PubMed1977

Infantile chronic peripheral neuropathy with giant axons. Report of a case.

An 8-year-old boy with a slowly progressive motor neuropathy is described. The first signs appeared at the age of 3 years. Histological examination of the sural nerve showed the presence of numerous segmental axonal swellings and features of demyelination as well as remyelination. These enlargements were filled with irregularly orientated 10 nm filaments. The case resembled the previously described cases of giant axonal neuropathy but differed from them in absence of kinky hair.

Axons↗
PubMed1977

Some histological aspects of amyloid polyneuropathy.

Two sporadic cases of amyloid polyneuropathy with clinical features corresponding to the Portuguese type of this disease were studied. Histological examination of sural nerve demonstrated a marked loss of myelinated and unmyelinated fibres in the case 1 due to axonal degeneration, high content of fibers with segmental demyelination and the occurrence of several enlarged axons filled with the 10 nm filaments (so-called giant axons). In the case 2 there was total loss of unmyelinated axons and myelinated fibers were nearly completely lacking. In the development of changes in the myelinated fibers their direct compression by amyloid deposits seems to play an important role. It leads to the appearance of both axonal degeneration and segmental demyelination. The latter seems to be due to local compression and it may involved many fibers. In the light of observations reported by other authors the mechanism of changes developing in unmuelinated fibers is explained by the presence of changes in the cells of posterior root ganglia, however the question whether some abnormalities seen in unmyelinated axons could not be related to the pressure exerted by amyloid deposits directly to these fibers, remains open.

Adult↗
PubMed1976

Recessive hereditary sensory neuropathy.

Clinical features in 2 cases of a recessive form of hereditary sensory neuropathy and the light and electron microscopy of sural nerve biopsy in 1 of them are described. The patients showed symptoms typical of this form of the disease; it should be stressed however that the loss of cutaneous sensation appeared to be limited to the distal parts of the lower extremities and involved all modalities of cutaneous sensation. Histological examination of sural nerve revealed a marked reduction in the number of myelinated fibres due to Wallerian-like axonal degeneration, of which various stages were represented. In addition, segmental demyelination, probably secondary to axonal changes, was seen. The unmyelinated fibres were also involved but to a lesser degree than the myelinated fibres. The observations indicate a progressive nature of the pathological process.

Adolescent↗