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1

Spinal muscular atrophy (SMA) - a neurodevelopmental disorder

100%

Hausmanowa-Petrusewicz I.

Acta Neurobiologiae Experimentalis

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2007

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tom 67

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nr 3

2

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The need for computer-aided electromyography

100%

Hausmanowa-Petrusewicz I.

Acta Physiologica Polonica

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1988

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tom 39

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nr 1

Hausmanowa-Petrusewicz, I.. The need for computer-aided electromyography. Acta physiol, pol., 1988, 39(1): 1—40. The limits of quantitative manual electromyography (EMG) are discussed. The role of computers in EMG laboratories is at present to imitate or replace the physician performing the test, extending his memory, to gather valuable information which cannot be obtained in a conventional way or, on the contrary, to delete the redundant information. The difficulties in standardizing the parameters of a single motor unit action potential (MUAP) are mainly related to the complexity of the EMG signal and its variability, particularly in pathological states. A computer- -aided quantification of interference pattern is presented. The novel methods of examination applied in computerized EMG laboratories are discussed. The scope and limits of computer-aided EMG should be taken into action potential (MUAP) are mainly related to the complexicity of the EMG be accepted are listed.

3

The value of automatic analysis for quantitative electromyography

63%

Hausmanowa-Petrusewicz I., Kopec J.

Acta Physiologica Polonica

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1979

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tom 30

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nr 2

4

The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles

63%

Niebroj-Dobosz I., Hausmanowa-Petrusewicz I.

Acta Biochimica Polonica

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2005

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tom 52

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nr 2

In both forms of muscular dystrophy, the severe Duchenne’s muscular dystrophy (DMD) with lifespan shortened to about 20 years and the milder Becker dystrophy (BDM) with normal lifespan, the gene defect is located at chromosome locus Xp21. The location is the same in the experimental model of DMD in the mdx mice. As the result of the gene defect a protein called dystrophin is either not synthesized, or is produced in traces. Although the structure of this protein is rather well established there are still many controversies about the dystrophin function. The most accepted suggestion supposes that it stabilizes sarcolemma in the course of the contraction-relaxation cycle. Solving the problem of dystrophin function is a prerequisite for introduction of an effective therapy. Among the different factors which might be responsible for the appearance and progress of dystrophic changes in muscles there is an excessive action of oxidative stress. In this review data indicating the influence of oxidative stress on the severity of the pathologic processes in dystrophy are discussed. Several pieces of data indicating the action of oxidative damage to different macromolecules in DMD/BDM are presented. Special attention is devoted to the degree of oxidative damage to muscle proteins, the activity of neuronal nitric oxide synthase (nNOS) and their involvement in defining the severity of the dystrophic processes. It is indicated that the severity of the morbid process is related to the degree of oxidative damage to muscle proteins and the decrease of the nNOS activity in muscles. Estimation of the degree of the destructive action of oxidative stress in muscular dystrophy may be a useful marker facilitating introduction of an effective antioxidant therapy and regulation of nNOS activity.

5

The investigation of motoneuronal characteristics in human

51%

Piotrkiewicz M., Kudina L., Hausmanowa-Petrusewicz I.

Acta Neurobiologiae Experimentalis

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1997

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tom 57

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nr 5

6

Mu firing characteristics in human dystrophic muscle

51%

Piotrkiewicz M., Filipiuk M., Hausmanowa-Petrusewicz I.

Acta Neurobiologiae Experimentalis

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1992

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tom 52

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nr 3

7

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

51%

Kabzinska D., Sinkiewicz-Darol E., Hausmanowa-Petrusewicz I., Kochanski A.

Journal of Applied Genetics

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2010

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tom 51

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nr 2

203-209

Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations.

8

MU firing characteristics in human dystrophic muscle

51%

Piotrkiewicz M., Filipiuk M., Hausmanowa-Petrusewicz I.

Acta Neurobiologiae Experimentalis

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1993

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tom 53

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nr 1

9

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

45%

Kabzinska D., Kotruchow K., Cegielska J., Hausmanowa-Petrusewicz I., Kochanski A.

Acta Biochimica Polonica

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2014

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tom 61

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nr 4

10

Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients

45%

Niebroj-Dobosz I., Madej-Pilarczyk A., Marchel M., Sokolowska B., Hausmanowa-Petrusewicz I.

Acta Biochimica Polonica

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2009

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tom 56

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nr 4

717-722

In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metalloproteinases (MMPs) are supposed to be involved and may have diagnostic/prognostic value. Serum levels of MT1-MMP, MMP-2 and MMP-9 were quantified by ELISA and zymography in 22 EDMD patients and 15 age-matched controls. In the autosomal-dominant EDMD MMP-2 and MT1-MMP were increased in all cases, and MMP-9 was increased in two of the eight examined patients. In the X-linked EDMD MMP-2 expression was increased in all the cases, MMP-9 level was elevated in 3 of the 14 cases, and MT1-MMP was decreased in eight of these patients. There was no evident correlation between the MMPs level and the different cardiac parameters including left-ventricular end-diastolic diameter, left atrial diameter and left ventricular ejection fraction in either form of EDMD. The presented results indicate that a changed level of matrix metalloproteinases, especially that of MMP-2 in serum, may be of value for detection of cardiac involvement in EDMD patients, especially in those patients with no evident subjective cardiac symptoms. Further follow-up studies of MMPs are needed to check if their determination is of value for monitoring of the progression of atrial/ventricular dilatation. MMPs determinations may also be useful for monitoring DCM treatment by synthetic MMPs inhibitors.

11

The Diagnostic yield of automatic EMG analysis in neuromuscular diseases

39%

Hausmanowa-Petrusewicz I., Rowinska-Marcinska K., Emeryk-Szajewska B., Ryniewicz B., Kopec A., Kopec J., Szmidt-Salkowska E.

Acta Physiologica Polonica

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1988

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tom 39

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nr 1

Hausmanowa-Petrusewicz, I., Rowińska-Marcińska, K„ Emeryk-Szajewska, B„ Ryniewicz, B„ Kopeć, A., Kopeć, J. and Szmidt-Saikowska E.: The diagnostic yield of automatic EMG analysis in neuromuscular diseases. Acta physiol, pol., 1988, 39 (1): 11—19. The aim of the study was to evaluate the diagnostic yield of automatic EMG analysis employed in differentiating normal from diseased muscle and myogenic, neural and spinal lesions. The material comprised 520 patients with neuromuscular diseases. Only diagnostically confirmed cases were included into the study. The control group comprised 51 healthy subjects. In all patients and healthy subjects routine EMG examination was performed by means of both the conventional technique and automatic method. On the basis of the statistical analysis of the material the authors concluded that the method of automated EMG using the Polish minicomputer Anops makes possible distinction of the main types of pathological processes affecting the muscles with higher than previously objectivity and reliability. They stress, however, the important role of the examiner and his experience.

12

Muscle stiffmess and continuous electromyographic activity in old rats; An animal model of spasticity?

39%

Wolfarth S., Schulze G., Ossowska K., Coper H., Kaminska A., Hausmanowa-Petrusewicz I.

Acta Neurobiologiae Experimentalis

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1992

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tom 52

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nr 3

13

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations

39%

Drac H., Kabzinska D., Moszynska I., Strugalska-Cynowska H., Hausmanowa-Petrusewicz I., Kochanski A.

Journal of Applied Genetics

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2011

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tom 52

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nr 2

Mutations in the myelin protein zero (MPZ) gene are the third most frequent cause of hereditary motor and sensory neuropathies (HMSN), also called Charcot–Marie–Tooth disorders (CMT). Only in case of recurrent mutations occurring in the MPZ gene is it possible to draw phenotype–genotype correlations essential for establishing the prognosis and outcomes of CMT1. We have surveyed a cohort of 67 Polish patients from CMT families with demyelinating neuropathy for mutations in the MPZ gene. In this study, we report two CMT families in which the Ile135Thr and Pro132Leu mutations have been identified for the MPZ gene. These MPZ gene mutations had not been identified hitherto in the Polish population. The Pro132Leu mutation segregates with a severe early-onset dysmyelinating–hypomyelinating neuropathy, whereas the Ile135Thr substitution is associated with the classical phenotype of CMT1. To the best of our knowledge, we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination–dysmyelination process in a family harboring the Pro132Leu mutation in the MPZ gene.

14

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

33%

Jedrzejowska M., Milewski M., Zimowski J., Borkowska J., Kostera-Pruszczyk A., Sielska D., Jurek M., Hausmanowa-Petrusewicz I.

Acta Biochimica Polonica

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2009

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tom 56

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nr 1

103-108

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we analyzed possible phenotype modifiers of the disease the size of the deletion in the SMA region, the number of SMN2 gene copies, as well as the effect of gender. Among the factors analyzed, two seem to influence the SMA phenotype: the number of SMN2 gene copies and a deletion in the NAIP gene. A higher number of SMN2 copies makes the clinical symptoms more benign, and the NAIP gene deletion is associated with a more severe phenotype. The influence of gender remains unclear. In a group of 1039 patients, 55% of whom were male, the greatest disproportion was in the SMA1 (F/M=0.78) and SMA3b (F/M=0.45) forms. In SMA1 a deletion in the NAIP gene was seen twice as frequently in girls compared to boys. In three patients, we observed genotypes atypical for the chronic forms of SMA: two patients with SMA3a and 3b had a deletion of the NAIP gene, and a third patient with SMA2 had one copy of the SMN2 gene.

15

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

33%

Madej-Pilarczyk A., Niezgoda A., Janus M., Wojnicz R., Marchel M., Fidzianska A., Grajek S., Hausmanowa-Petrusewicz I.

Journal of Applied Genetics

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2017

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tom 58

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nr 1

16

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy

33%

Hausmanowa-Petrusewicz I., Zaremba J., Fidzianska A., Zimowski J., Bisko M., Badurska B., Fidzianska E., Lusakowska A., Borkowska J.

Acta Neurobiologiae Experimentalis

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1993

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tom 53

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nr 1

17

Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies [HNPP] in a Polish family

33%

Kochanski A. M., Lofgren A., Timmerman V., Jedrzejowska H., Fidzianska A., Latos-Bielenska A., Van Broeckhoven C., Hausmanowa-Petrusewicz I.

Journal of Applied Genetics

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1999

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tom 40

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nr 3

Ograniczanie wyników

Spinal muscular atrophy (SMA) - a neurodevelopmental disorder

The need for computer-aided electromyography

The value of automatic analysis for quantitative electromyography

The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles

The investigation of motoneuronal characteristics in human

Mu firing characteristics in human dystrophic muscle

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

MU firing characteristics in human dystrophic muscle

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients

The Diagnostic yield of automatic EMG analysis in neuromuscular diseases

Muscle stiffmess and continuous electromyographic activity in old rats; An animal model of spasticity?

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy

Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies [HNPP] in a Polish family