AIMS: Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. METHODS: The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. RESULTS: Our results, analysed by Fisher's exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). CONCLUSION: In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.
- MeSH
- chromozom X MeSH
- fenotyp MeSH
- haplotypy MeSH
- lidé MeSH
- Turnerův syndrom * genetika MeSH
- vrozené srdeční vady * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Publikační typ
- abstrakt z konference MeSH
Steroid profiling helps various pathologies to be rapidly diagnosed. Results from analyses investigating steroidogenic pathways may be used as a tool for uncovering pathology causations and proposals of new therapeutic approaches. The purpose of this study was to address still underutilized application of the advanced GC-MS/MS platform for the multicomponent quantification of endogenous steroids. We developed and validated a GC-MS/MS method for the quantification of 58 unconjugated steroids and 42 polar conjugates of steroids (after hydrolysis) in human blood. The present method was validated not only for blood of men and non-pregnant women but also for blood of pregnant women and for mixed umbilical cord blood. The spectrum of analytes includes common hormones operating via nuclear receptors as well as other bioactive substances like immunomodulatory and neuroactive steroids. Our present results are comparable with those from our previously published GC-MS method as well as the results of others. The present method was extended for corticoids and 17alpha-hydroxylated 5alpha/ß-reduced pregnanes, which are useful for the investigation of alternative "backdoor" pathway. When comparing the analytical characteristics of the present and previous method, the first exhibit by far higher selectivity, and generally higher sensitivity and better precision particularly for 17alpha-hydroxysteroids.
- MeSH
- biologické markery krev MeSH
- dospělí MeSH
- lidé MeSH
- novorozenec MeSH
- plynová chromatografie s hmotnostně spektrometrickou detekcí metody normy MeSH
- steroidy krev MeSH
- tandemová hmotnostní spektrometrie metody normy MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Příčiny mužského hypogonadismu jsou různé a tím je dán rovněž jeho rozdílný klinický obraz, diagnostika i léčba. Hypogonadismus u mužů negativně ovlivňuje nejen plodnost, ale též psychiku, kardiovaskulární systém, pevnost skeletu, erytropoezu, proteosyntézu, lipidogram a řadu metabolických funkcí. Diagnostika může být v některých situacích obtížná a stejně tak volba optimálního léčebného preparátu vyžaduje určitou klinickou zkušenost. Cílem tohoto přehledu je poskytnout základy pro porozumění uvedenému tématu od symptomů přes diagnostiku až po léčbu a její přínosy i rizika.
Male hypogonadism can be of various etiology and that reflects its clinical manifestation, diagnostics and treatment. Male hypogonadism leads not only to decreased fertility, but influences the cardiovascular system, mood changes, bone fragility, lipids and other metabolic functions. Diagnosis of hypogonadism can be cumbersome, as well as the choice of optimal hormonal supplementation. The aim of this article is to summarize the basics from symptoms, diagnosis and treatment of male hypogonadism.
- MeSH
- androgeny aplikace a dávkování klasifikace škodlivé účinky terapeutické užití MeSH
- gonadotropiny analýza aplikace a dávkování terapeutické užití MeSH
- hypogonadismus * etiologie klasifikace terapie MeSH
- hypopituitarismus etiologie MeSH
- kardiovaskulární nemoci MeSH
- lidé MeSH
- mužská infertilita etiologie terapie MeSH
- nádory prostaty MeSH
- polycytemie MeSH
- testosteron analýza krev nedostatek MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- přehledy MeSH
- MeSH
- cholekalciferol terapeutické užití MeSH
- dospělí MeSH
- hormonální substituční terapie * MeSH
- komorbidita MeSH
- kosti a kostní tkáň * MeSH
- kostní denzita účinky léků MeSH
- léková kontraindikace MeSH
- lidé MeSH
- osteokalcin MeSH
- příznaky a symptomy MeSH
- registrace MeSH
- růstový hormon * aplikace a dávkování nedostatek škodlivé účinky terapeutické užití MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- abstrakt z konference MeSH
Our aim was to analyze the correlation of early postoperative cortisol levels in patients after transsphenoidal pituitary adenoma surgery compared to the standard dose ACTH test and Insulin tolerance test (ITT) several months later. We retrospectively reviewed data from 94 patients operated for pituitary adenoma in years 2009-2012. The comparison of day 7 (median) postoperative basal cortisol levels and 3.6 months (median) after pituitary adenoma surgery stimulation test - standard dose 250 microg 1-24ACTH test in 83 patients or ITT in 11 patients were performed. All 16 patients with early postoperative cortisol levels >500 nmol/l proved a sufficient response in the stimulation tests. At basal cortisol levels of 370-500 nmol/l the sufficient response was found in 96 % (27/28) of patients. In the postoperative basal cortisol levels 200-370 nmol/l we found a preserved corticotroph axis later on in 88 % (28/32) of cases. Patients with basal cortisol levels 100-200 nmol/l had a maintained corticotroph axis function in 8/11 cases - 73 %. All patients with an early postoperative basal cortisol level above 500 nmol/l proved in the stimulation tests a preserved corticotroph axis function. The interval 370-500 nmol/l showed a minimal risk of postoperative adrenal insufficiency.
- MeSH
- Addisonova nemoc krev epidemiologie MeSH
- adenom krev epidemiologie chirurgie MeSH
- adrenalektomie statistika a číselné údaje MeSH
- biologické markery krev MeSH
- dospělí MeSH
- hodnocení rizik metody MeSH
- hydrokortison krev MeSH
- incidence MeSH
- kauzalita MeSH
- komorbidita MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory hypofýzy krev epidemiologie chirurgie MeSH
- pooperační komplikace krev epidemiologie MeSH
- pooperační období MeSH
- prognóza MeSH
- reprodukovatelnost výsledků MeSH
- senzitivita a specificita MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
