Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
1140 23 |
Ultima descărcare din IBN: 2023-11-04 12:32 |
SM ISO690:2012 SACARĂ, Victoria, LEVIŢCHII, Alexandr, GROPPA, Stanislav, DUCA, Maria, MOŞIN, Veaceslav. Spectrul nozologic al bolilor ereditare ale sistemului nervos şi particularităţile răspîndirii patologiilor neuro-musculare în Republica Moldova
. In: Buletin de Perinatologie, 2012, nr. 3, pp. 42-49. ISSN 1810-5289. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Buletin de Perinatologie | ||||||
Numărul 3 / 2012 / ISSN 1810-5289 | ||||||
|
||||||
Pag. 42-49 | ||||||
|
||||||
Descarcă PDF | ||||||
Rezumat | ||||||
Background In hereditary diseases a special place occupy the nervous system pathology, which suffers in
different degrees in most genetic diseases -chromosomal, metabolically and many genetic syndromes. One of the
features of hereditary diseases is the unevenness of their distribution in different populations. Based on the mechanism
data of this phenomenon we can plan prevention activities.
Material and methods. The work have been done on the based of the scientifi c department of National Centre
of reproductive health and Medical Genetics (CNSRGM) according to the referral. We used about 1101 families
with 1421 affected and 20 kinds of hereditary diseases. Data collection began since 1991 and was conducted on
a continual basis. The main source of data on the prevalence and frequency of hereditary diseases of the nervous
system register of hereditary diseases, which is carried out in1991 with CNSRGM
Results: Created Register NZNS where recorded data on all diagnosed cases and families burdened NZNS
allows the use of information for the practical needs of medical and genetic counseling.
Based on the results of determining the spectrum is formed list of diseases for the introduction of new methods
for molecular diagnostics.
For the fi rst time obtained data on the incidence rate of Duchenne myodystrophy -6.11 per 100 000, spinal
amyotrophy, 3.8 per100,000 and hereditary motosensory neuropathy - 7.2 per 100 000 population of the RM.
Conclusions: In this paper we show for the fi rst time the distribution of common neuromuscular diseases in
RM districts. Have been established statistically signifi cant average degree of association of the cases number in
the area to the total population in the area (average ρ = 0,48). |
||||||
Cuvinte-cheie nosologic spectrum, prevalence, frequency, hereditary, neuromuscular |
||||||
|