Sekvenování lidského genomu umožnilo identifikovat jednotlivé lidské geny, stanovit variace těchto genů a pochopit jejich přispění ke zdraví a nemoci. Zároveň s technologickým pokrokem dochází ke zlevňování a zpřístupnění genetického testování. Tyto skutečnosti posouvají lékařskou genetiku od diagnostiky vzácných nemocí u dětí a prenatální diagnostiky směrem ke všem věkovým skupinám. Z toho vyplývá nutnost integrace poznatků lékařské genetiky do interních oborů a do ambulancí praktických lékařů. Existence alternativních forem genu (alel) v populaci, výskyt podobných fenotypů podmíněných mutacemi a variabilitou v různých lokusech, význam genových interakcí a interakcí genů a prostředí u lidských onemocnění, úloha somatických mutací v karcinogenezi a stárnutí, možnost prenatální diagnostiky, presymptomatické testování a populační screening, příslib účinných genových terapií, to vše jsou principy, které již nyní pronikají do všech oblastí medicíny. Mezinárodní kolaborativní studie prokazují, že v současné době potřebuje 10 % populace v některém období života genetické zdravotnické služby. Toto procento se bude nepochybně v budoucnosti, s dalším nárůstem zejména molekulárně genetických poznatků a možností zvyšovat. Míra pokroku využití genetického přístupu v celém kontinuu zdravotnické péče o pacienta a jeho rodinu závisí nejenom na technologickém pokroku, ale i na odborné přípravě ošetřujících lékařů.
The sequencing of the human genome made it possible to identify individual human genes, to determine variations of these genes and to understand their contributions to health and diseases. With technological progress, there came cheaper and more accessible genetic testing. This changes medical genetics from being almost solely focused on diagnosing rare diseases in children and prenatal diagnostics to something available to all age groups. Hence the need for integration of information from and about the field of medical genetics into internal medicine and general practitioners’ everyday work. The existence of alternative forms of a gene (alleles) in the population, the occurrence of similar, mutation-conditional phenotypes and variability in different loci, the importance of gene interactions and gene-environment interactions in human diseases, the role of somatic mutation in carcinogenesis and aging, the possibility of prenatal diagnosis, non-symptomatic testing and popula- tion screening, the promise of effective gene therapies – all these are ideas and principles that now permeate all areas of medicine. International collaborative studies show that some 10 % of the population currently require genetic health services at some point in their lives. This percentage will undoubtedly rise in the future, especially with further increases of our knowledge of molecular genetics. Progress towards the use of genetic approach throughout the continuum of health care for patients and their families depends not only on technological progress, but also on proper training of active physicians.
- MeSH
- biopsie metody trendy využití MeSH
- cystektomie metody využití MeSH
- inkontinence moči diagnóza terapie MeSH
- litiáza diagnóza terapie MeSH
- nádorové biomarkery terapeutické užití MeSH
- nádory močového měchýře diagnóza chirurgie terapie MeSH
- nádory prostaty komplikace chirurgie terapie MeSH
- urotel chirurgie patologie MeSH
- Publikační typ
- kongresy MeSH
The main purpose of announcement is to bring the information about possibilities of surgical reconstruction seminal ways obstruction azoospermia inductive. The authors bring the survey of possible solutions based on the ground of information from publication in reviewed technical literature. The possibilities of performance the vasovasoanastomosis and vasoepididymoanastomosis, their techniques, effectiveness and results are presented in the well-arranged announcement. Microsurgical reconstruction results in the restoration of spermatozoa to the ejaculate in 58-97% of cases. The return of spermatozoa to the ejaculate may provide the couple with an opportunity to conceive naturally or through assisted reproduction.
Varicocelectomy is the most common procedure for male infertility. The introduction of microsurgical techniques has revolutionized the treatment of male infertility. Material and methods: Over a 4-year period, 217 patients underwent microsurgical varicocelectomy at our center. Pre-operative semen values were compared with the post-operative values. Results: Significant improvement of spermiogram occurs in 70.35%. Pregnancy rate 41%. Conclusions: Microsurgical varicocelectomy is a safe and effective option for the management of varicocele-induced male infertility. It leads to improvement in all semen parameters and increases the possibility of spontaneous pregnancies.
- MeSH
- endokrinní žlázy enzymologie metabolismus růst a vývoj MeSH
- genetické jevy fyziologie genetika imunologie MeSH
- hormony genetika metabolismus MeSH
- lidé MeSH
- muži MeSH
- proteiny vázající telomery genetika imunologie metabolismus MeSH
- stárnutí fyziologie genetika metabolismus MeSH
- telomerasa genetika imunologie MeSH
- Check Tag
- lidé MeSH
The ageing process manifests itself within numerous organs. Central nervous (particularly brain), immune, endocrine and cardiovascular systems functioning are impaired with age. Alternations in conjunctive and muscular tissues are other familiar ailments common to ageing humans. Material and methods: Presentation macromolecular processes The endocrine system is particularly sensitive to age. Alterations may be due to the: • diminution of the synthesis or turnover of most of hormones; • impaired functioning of hormone receptors; • defective binding between hormone and its receptor; • premature programmed death (apoptosis) of hormone producing cells; • auto-immune reactions; • cancerous transformations. Endocrine system alterations are linked to the apparition of several ageing related diseases such as diabetes, disorders in thyroid gland functioning and sexual hormones deficiencies. In ageing men, a progressive diminution of circulating levels of androgens is observed (aging male). With age, genetic material is altered at different levels. The stability of DNA is decreased, the DNA transcription and the translation of proteins are impaired. The alternation in the transmission of the genetic information results in accumulation or abnormal, no functional proteins („error theory“), leading to cellular impairment, ageing and death. At each cell division the shortening in telomeres (protecting structures at the ends of chromosomes) is observed. The progressive shortening of telomeres may be a cause (or the cause) of cellular ageing. Telomeres shortening may appear to be the cellular clock that determines the number of times cells could divide and which weakens chromosomes to the point where cell division is no longer possible. DNA methylation plays a central role in genomic imprinting and embryonic development. Aberrations in DNA methylation have been implicated in ageing and various diseases including cancer. Conclusion: The ageing is conclusive process. At least this time.
Autori hodnotia skúsenosti s použitím techniky MESA, TESE a ICSI v priebehu deviatich rokov spolupráce Urologickej kliniky s Centrom asistovanej reprodukcie FN Brno. Celkovo bolo za uvedené obdobie uskutočnených 104 operačných výkonov, výsledkom ktorých bolo 24 narodených detí.
Authors evaluated the experience of application MESA, TESE and ICSI techniques during 9 years long cooperation between Department of Urology University Hospital Brno and Institulions of reproductive Medicine University Hospital Brno. 104 surgical procedures were performed during this time period and as result 24 children were born.
- MeSH
- chirurgie operační MeSH
- dospělí MeSH
- lidé MeSH
- mezioborová komunikace MeSH
- mužská infertilita diagnóza chirurgie terapie MeSH
- výsledky a postupy - zhodnocení (zdravotní péče) statistika a číselné údaje využití MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- srovnávací studie MeSH
- MeSH
- epididymis chirurgie MeSH
- lidé MeSH
- mikrochirurgie metody využití MeSH
- mužská infertilita terapie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kongresy MeSH
