Temat: syndrome. - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:: Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:: Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: A clinical, cytogenetic and molecular study in Prader-Willi patients
Autorzy:: Krajewska-Walasek, M
Popowska, E
Gutkowska, A
Bielinska, B
Chrzanowska, K
Rump, Z
Mospinek-Krasnopolska, M
Rysiewski, H
Powiązania:: https://bibliotekanauki.pl/articles/2046801.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: deletion
patient
cytogenetic deletion
diagnosis
chromosome 15
Prader-Willi syndrome
Opis:: Twenty-three patients with a putative diagnosis of Prader-Willi syndrome (PWS) were reassessed clinically and then examined by cytogenetic and molecular techniques. Nineteen patients fulfilled the diagnostic criteria for PWS and the remaining four were judged to have atypical PWS. Definite molecular defects were detected in all clinically typical PWS patients but one. A deletion of part of chromosome 15q could be identified molecularly in 14 patients (74%) and maternal disomy for chromosome 15 in four (21%). In all, except one, PWS patients with molecularly detected deletions, the deletion was also identified by cytogenetic studies. Cytogenetic deletions were suspected in two of the atypical PWS patients. However, based on the results of scoring the diagnostic criteria for PWS and on the PW71B methylation test, we were able to rule out PWS in all of our atypical patients. Our study confirms observations that both clinical and cytogenetic investigations can provide misdiagnoses of PWS in some patients, and the first, simple and fast investigation, which can confirm the PWS in most, if not all PWS patients, is molecular analysis by the methylation test.
Źródło:: Journal of Applied Genetics; 1997, 38, 2; 205-216
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Is the recently discovered EDA gene associated with anhidrotic ectodermal dysplasia?
Autorzy:: Kobielak, K
Kobielak, A
Trzeciak, W H
Powiązania:: https://bibliotekanauki.pl/articles/2046683.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: ectodermal-mesodermal interaction
X chromosome
submicroscopic deletion
hyperthermia
Christ-Siemens-Touraine syndrome
hybridization
ectodermal dysplasia
mutation
somatic cell
linkage analysis
embryonic life
transmembrane receptor
Opis:: The evidence from literature strongly suggests that Christ-Siemens-Touraine (CST) syndrome is associated with mutations of the newly discovered EDA gene. The gene is situated on the long arm of the X chromosome (Xq12.2-q13.1) and contains two exons separated by a 200 kbp intron. The 5’-untranslated region and most of the coding sequence are localized in exon 1, while three C-terminal amino acids are encoded by exon 2. The coding sequence was interrupted by translocations in three affected females: t(X;l), t(X;12), t(X;9), and submicroscopic deletions of the EDA gene were found in five males with CST syndrome, and point mutations were discovered in exon 1 in nine other patients. Northern blot analysis and in situ hybridization studies revealed that the EDA gene was expressed in the foetus, and postnatally in a specific type of skin cell and that the expression was limited to cells of ectodermal origin. A predicted protein product of the EDA gene contains 135 to 140 amino acids, organized in three distinct domains and may belong to class II transmembrane receptors.
Źródło:: Journal of Applied Genetics; 1997, 38, 3; 343-357
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

Tytuł:: Molecular basis of malignant hyperthermia
Autorzy:: Gronek, P
Slomski, R
Powiązania:: https://bibliotekanauki.pl/articles/2046685.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: calcium release
ryanodine receptor
depolarization
polymorphism
ryanodine gene
chromosome
metabolism
man
clinical syndrome
central core disease
phenotypic effect
malignant hyperthermia
anesthesia
skeletal muscle
Opis:: Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.
Źródło:: Journal of Applied Genetics; 1997, 38, 3; 309-317
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 5.

Tytuł:: Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients
Autorzy:: Stankiewicz, P
Lebiocka, J
Szpecht-Potocka, A
Bocian, E
Stanczak, H
Obersztyn, E
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047150.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: chromosomal deletion
in situ
patient
hybridization
fluorescence
cytogenetics
chromosome region
Prader-Willi syndrome
Opis:: Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contribution of the chromosome region 15q11.2-q13 arising from differently sized deletions, maternal disomy, or rarely imprinting mutations. We have analyzed 20 PWS patients using combined cytogenetic high resolution technique (HRT), fluorescence in situ hybridization (FISH) and molecular studies to identify parental origin (uniparental disomy) or molecular defect (deletion) of the Prader-Willi region. Lack of a paternal copy of 15q11.2-q13 resulting from its deletion was found in 16 patients. Using high resolution GTG banding on prometaphase chromosomes, deletion in the 15q11.2-q13 region was detected in only 8 patients. Application of FISH with different sets of PWS specific unique sequence probes (D15S11, SNRPN, D15S10, GABRß3) revealed microdeletions in 12 patients. In 12 out of 20 cases FISH confirmed HRT studies, while in 8 cases inconsistent results were obtained. No discrepancies between results of FISH and molecular studies were found, although the latter had a higher sensitivity. We conclude that FISH appears to be a rapid and reliable method of microdeletion identification and should be performed as a method of choice in cytogenetic diagnosis of Prader-Willi syndrome.
Źródło:: Journal of Applied Genetics; 1997, 38, 2; 217-226
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 6.

Tytuł:: Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11
Autorzy:: Devriendt, K
Swillen, A
Frints, S G M
Fryns, J P
Powiązania:: https://bibliotekanauki.pl/articles/2046606.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: facial dysmorphism
congenital heart defect
deletion
cleft palate
hypoplasia
velocardiofacial syndrome
chromosome 22q11
microdeletion
hypocalcaemia
Opis:: The phenotypic heterogeneity of the velocardiofacial syndrome (VCFS) or Shprintzen syndrome caused by a chromosomal 22q11 deletion will be discussed. The acronym ’CATCH22’ (Cardiac defects - Abnormal facies - Thymic hypoplasia - Cleft palate - Hypocalcaemia) has been suggested to indicate the associated phenotype. The variable clinical phenotype was previously recognized as DiGcorge syndrome and Shprintzen syndrome, but both are caused by a microdeletion of chromosome 22q11. However, most patients show only partial expression with mild clinical features. Through a sensitive genetic investigation called FISH (Fluorescence in situ hybridization) a diagnostic test of VCFS has become routinely possible, leading to an increased number of patients that are diagnosed. Early diagnosis is very important to recognize associated problems, to initiate adequate treatment and to provide necessary genetic counselling.
Źródło:: Journal of Applied Genetics; 1997, 38, 1; 87-102
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 7.

Tytuł:: Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes
Autorzy:: Popowska, E
Sulek, A.
Kubalska, J.
Pronicka, E.
Jezewska, M.
Trembacz, H.
Goryluk-Kozakiewicz, B.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2044455.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: deletion
Lesch Nyhan syndrome
Kelley-Seegmiller syndrome
hypoxanthine-guanine phosphoribosyltransferase deficiency
enzyme activity
Polish patient
point mutation
Opis:: Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 103-111
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 8.

Tytuł:: Od decyzji do działania: model wyjaśniający zachowania suicydalne
From decision to action: an explanatory model of suicidal behaviour
Autorzy:: Juczyński, Zygfryd
Powiązania:: https://bibliotekanauki.pl/articles/18808963.pdf
Data publikacji:: 1998
Wydawca:: Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
Tematy:: suicidal behaviour
presuicidal syndrome
expectancies of outcome
self-efficacy
explanatory model
Źródło:: Acta Universitatis Lodziensis. Folia Psychologica; 1998, 02; 3-13
2353-4842
Pojawia się w:: Acta Universitatis Lodziensis. Folia Psychologica
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 9.

Tytuł:: Selected parasitic and infectious diseases in persons returning from The Tropics
Autorzy:: Jeske, J.
Bergiel, A.
Kamerys, J.
Powiązania:: https://bibliotekanauki.pl/articles/839555.pdf
Data publikacji:: 1998
Wydawca:: Polskie Towarzystwo Parazytologiczne
Tematy:: disease
infection
Plasmodium vivax
Weil's syndrome zob.leptospirosis icterohaemorrhagiae
leptospirosis
Tropics,The
exotic country
Plasmodium falciparum
parasite
Entamoeba histolytica
leptospirosis icterohaemorrhagiae
Leptospira
infectious disease
bacterial zoonotic disease
Źródło:: Annals of Parasitology; 1998, 44, 3
0043-5163
Pojawia się w:: Annals of Parasitology
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 10.

Tytuł:: Novel isoforms of transcript of the EDA gene confirm X-linked inheritance of anhidrotic ectodermal dysplasia
Autorzy:: Kobielak, K
Kobielak, A.
Trzeciak, W.H.
Powiązania:: https://bibliotekanauki.pl/articles/2043606.pdf
Data publikacji:: 1999
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: dysplasia
inheritance
anhidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
Tabby gene
EDA gene
gene transcript
Źródło:: Journal of Applied Genetics; 1999, 40, 4; 355-364
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 11.

Tytuł:: Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations
Autorzy:: Sikorska, A
Traczyk, Z.
Konopka, L.
Fiszer-Maliszewska, L.
Wojciechowska, B.
Pienkowska-Grela, B.
Rygier, J.
Woroniecka, R.
Witkowska, A.
Rusin, M.
Powiązania:: https://bibliotekanauki.pl/articles/2041808.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: germline mutation
Li-Fraumeni syndrome
brain tumour
carcinoma
child
chromosome aberration
cancer
p53 gene
young adult
Źródło:: Journal of Applied Genetics; 2001, 42, 3; 379-384
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 12.

Tytuł:: SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome
Autorzy:: Piekutowska-Abramczuk, D
Popowska, E.
Pronicka, E.
Karczmarewicz, E.
Pronicki, M.
Kmiec, T.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2041946.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: Leigh disease
polymorphism
deletion
patient
substitution
Polska
SURF1 gene
gene mutation
Leigh syndrome
cytochrome oxidase
Źródło:: Journal of Applied Genetics; 2001, 42, 1; 103-108
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 13.

Tytuł:: A New Approach to the Mouse Arm Syndrome
Autorzy:: Ullman, J.
Kangas, N.
Ullman, P.
Wartenberg, F.
Ericson, M.
Powiązania:: https://bibliotekanauki.pl/articles/89826.pdf
Data publikacji:: 2003
Wydawca:: Centralny Instytut Ochrony Pracy
Tematy:: computer mouse
Repetitive Stress Injury
Mouse Arm Syndrome
EMG
static tension
carpal tunnel syndrome
pen grip
trapezius
levator scapulae
extensor digitorum
pronator teres
ergonomic mouse
intuitive interface
komputer
fizjologia pracy
ergonomia
uraz kończyny górnej
zagrożenia zdrowia
zespół cieśni nadgarstka
praca przy komputerze
Opis:: OBJECTIVES: The study validates a new computer mouse concept. The tested device is a small mouse with a pivoting pen-shaped handle. The hypothesis behind the design is the assumptions that the pen grip requires less static tension than the normal mouse grip and that fine-motor, high precision tasks normally are done with finger movements with forearm at rest. METHODS: Four muscles were monitored with electromyography (EMG) during work with a new mouse and with a traditional mouse. RESULTS: EMG activity was significant lower, in M. pronator teres - 46%, M. extensor digitorum - 46%, M. trapezius - 69%, and M. levator scapulae - 82%, during work with the new mouse as compared to the traditional mouse. CONCLUSION: Altering the design of the computer mouse can significantly reduce muscular tension.
Źródło:: International Journal of Occupational Safety and Ergonomics; 2003, 9, 4; 463-477
1080-3548
Pojawia się w:: International Journal of Occupational Safety and Ergonomics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 14.

Tytuł:: Stres w pracy a syndrom wypalenia zawodowego u funkcjonariuszy policji
Occupational stress and burnout syndrome in police officers
Autorzy:: Ogińska-Bulik, Nina
Powiązania:: https://bibliotekanauki.pl/articles/2139351.pdf
Data publikacji:: 2003
Wydawca:: Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
Tematy:: occupational stress
burnout syndrome
police officers
Opis:: The aim of the study was to establish: 1) the relationship between stress at work and burnout syndrome in group of police officers, 2) what is the level of burnout depending on the level of perceived stress at work, 3) predictors of burnout syndrome in policemen. 277 police officers were examined. The mean of age was: 35 years. The Perceived Job Stress Characteristics Questionnaire and Maslach Burnout Inventory were used in the study. Positive relationship between stress at work and emotional exhaustion and depersonalization, and negative between stress and level of personal accomplishment was revealed. Sense of work overload and lack of rewards appeared predictors of emotional exhaustion and depersonalization. Lack of support and sense of work overload were predictors of sense of personal accomplishment.
Źródło:: Acta Universitatis Lodziensis. Folia Psychologica; 2003, 07; 27-35
2353-4842
Pojawia się w:: Acta Universitatis Lodziensis. Folia Psychologica
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 15.

Tytuł:: An expert system supporting risk stratification in acute coronary syndromes
Autorzy:: Grabowski, M.
Filipiak, K. J.
Rudowski, R.
Opolski, G.
Powiązania:: https://bibliotekanauki.pl/articles/1965787.pdf
Data publikacji:: 2004
Wydawca:: Politechnika Gdańska
Tematy:: expert system
decision making
acute coronary syndrome
risk stratification
Opis:: The aim of the project was to create a computer program, an expert system (ES), which would support physicians when a management for patients with acute coronary syndrome needs to be chosen. A knowledge database was created with the support of clinical experts, based on the current management standards. Data from new patients are added to the case database. The inference engine integrates two types of reasoning rule-based and case-based. The ES gives unambiguous and objective answers, its recommendation are reliable. At present, the ES is tested in clinical practice. Strategies recommended by the ES are compared with the management applied in a clinic.
Źródło:: TASK Quarterly. Scientific Bulletin of Academic Computer Centre in Gdansk; 2004, 8, 2; 281-286
1428-6394
Pojawia się w:: TASK Quarterly. Scientific Bulletin of Academic Computer Centre in Gdansk
Dostawca treści:: Biblioteka Nauki

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