Publikace se zaměřuje na psychologii a podporu rodin s dětmi, kteří procházejí paliativní péčí. Určeno odborné i široké veřejnosti.

• MeSH
• adaptace psychologická MeSH
• dítě MeSH
• paliativní péče * MeSH
• psychická odolnost MeSH
• psychický stres MeSH
• rodiče MeSH
• rodinné vztahy MeSH
• sociální opora MeSH
• sourozenci MeSH
• umírající MeSH
• Check Tag
• dítě MeSH
• Publikační typ
• monografie MeSH
• populární práce MeSH

• Konspekt
• Psychologie
• NLK Obory
• psychologie, klinická psychologie
• sociologie

The development of human sexual orientation remains a complex and multifaceted subject. It is often studied but its origins continue to elude us. In this preregistered study, our primary objective was to demonstrate the fraternal birth order effect (FBOE), which assumes a higher prevalence of older brothers in gay men than in their straight counterparts and which has also been recently recorded in lesbian women. Our second aim was to explore any potential impact of the FBOE on anal-erotic role orientation (AERO), both in gay and straight men. Our study sample included 693 gay men, 843 straight men, 265 lesbian women, and 331 straight women from Czechia and Slovakia. Employing a conventionally parameterized logistic regression model, we substantiated the FBOE among both gay men (OR = 1.35 for maternal older brothers) and lesbian women (OR = 1.71). These outcomes were confirmed by a more nuanced parameterization recently proposed by Blanchard (2022). Nonmaternal older brothers did not exhibit a significant influence on their younger brothers' sexual orientation. Contrary to some earlier reports, however, our data did not establish the FBOE as exclusive to gay men with the receptive AERO. Furthermore, our observations indicated a lower offspring count for mothers of gay men compared to mothers of straight men. Emphasizing the positive FBOE outcomes, we acknowledge the need for caution regarding the various options that can be used to estimate the familial influences on sexual orientation.

• MeSH
• dospělí MeSH
• heterosexualita statistika a číselné údaje   psychologie   MeSH
• homosexualita mužská * statistika a číselné údaje   psychologie   MeSH
• homosexualita ženská * statistika a číselné údaje   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• pořadí narození * MeSH
• sexuální a genderové menšiny statistika a číselné údaje   psychologie   MeSH
• sexuální chování statistika a číselné údaje   MeSH
• sourozenci MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH

Východiská: Alogénna transplantácia krvotvorných buniek (allogeneic hematopoietic stem cell transplantation – alloHSCT) predstavuje významný terapeutický výkon pre liečbu celého spektra závažných chorôb. Pokroky v liečbe a podpornej starostlivosti zlepšili celkové prežívanie, avšak napriek tomu sa alloHSCT naďalej vyznačuje značnou úmrtnosťou, najčastejšie zapríčinenou chorobou z reakcie štepu proti hostiteľovi (graft-versus-host disease – GvHD). Cieľom našej retrospektívnej analýzy bolo zistiť, ktoré z vybraných faktorov mali vplyv na celkové prežívanie a vývoj GvHD po alloHSCT od HLA-identických súrodencov. Analyzovali sme vek pacienta a darcu, kompatibilitu v AB0 systéme, zhodu pohlavia príjemcu a darcu, zdroj krvotvorných buniek, čas od diagnózy po alloHSCT, typ prípravného režimu, typ profylaxie GvHD a relaps. Pacienti a metódy: Sledovali sme 96 pacientov (54 mužov, 42 žien), ktorí podstúpili alloHSCT od HLA-identického súrodenca. Medián sledovania bol 64,5 mesiaca (rozsah 1–218 mesiacov), medián veku príjemcov aj darcov bol 34 rokov. Najčastejšou indikáciou alloHSCT bolo malígne hematologické ochorenie. Výsledky: Najvyšší počet úmrtí zapríčinila GvHD a jej komplikácie (n = 24; 46,2 %) a na druhom mieste bol relaps (n = 18; 34,6 %). Akútnu GvHD vyvinulo 30 (31,3%) a chronickú GvHD 25 (26,0%) z celkového počtu 96 pacientov. Celkovo GvHD vyvinulo 45 pacientov (46,9%). Pozorovali sme horšie celkové prežívanie pacientov mužského pohlavia, ktorí mali darkyne ženy v porovnaní s ostatnými pacientami (p = 0,01; HR = 2,33). Celkové prežívanie bolo lepšie u pacientov transplantovaných do 1 roka od stanovenia diagnózy, v porovnaní s pacientami transplantovanými po 1 roku (p = 0,03; HR = 1,93). Žiadny z faktorov nemal štatisticky významný vplyv na akutnú GvHD, chronickú GvHD a celkovo na GvHD. Záver: Potvrdili sme, že nezhoda pohlaví, ak darcom je žena a príjemcom muž, signifikantne negatívne ovplyvňuje celkové prežívanie po alloHSCT. Rovnako, celkové prežívanie mali signifikantne kratšie pacienti, ktorí podstúpili alloHSCT neskôr ako 1 rok od potvrdenia diagnózy.

Backgrounds: Allogeneic hematopoietic stem cell transplantation (alloHSCT) is a substantial therapeutic procedure for the treatment of a wide spectrum of severe diseases. Despite advancements in treatment and supportive care, alloHSCT still carries a considerable mortality risk, primarily caused by graft-versus-host disease (GvHD). Our retrospective analysis aimed to identify the factors influencing overall survival and GvHD development in HLA-identical sibling alloHSCT. We have analyzed patients’ and donors’ age, AB0 compatibility, recipient-donor gender match, stem cell source, time from the diagnosis to alloHSCT, conditioning regimen type, GvHD prophylaxis, and relapse. Patients and methods: Our study included 96 patients (54 male, 42 female) who underwent HLA-identical sibling alloHSCT. The median follow-up was 64.5 months (range 1–218 months), and the median age of both recipients and donors was 34 years. Malignant hematological diseases were the most common indications for alloHSCT. Results: GvHD and its complications accounted for the highest number of deaths (N = 24; 46.2%), followed by relapse (N = 18; 34.6%). Acute GvHD developed in 30 patients (31.3%), while chronic GvHD occurred in 25 patients (26.0%), resulting in a total of 45 patients (46.9%) experiencing GvHD. Male recipients with female donors had significantly worse overall survival compared to other patients (P = 0.01; HR = 2.33). Overall survival was better in patients transplanted within 1 year from the diagnosis compared to those transplanted after 1 year (P = 0.03; HR = 1.93). No factor reached statistical significance regarding the impact on acute GvHD, chronic GvHD, or overall GvHD. Conclusion: We confirmed that sex mismatch, specifically in the case of a female donor and a male recipient, significantly negatively affects overall survival after alloHSCT. Additionally, overall survival is significantly shorter when the interval between the diagnosis and alloHSCT exceeds one year.

• MeSH
• analýza přežití * MeSH
• dospělí MeSH
• hematologické nádory mortalita   terapie   MeSH
• histokompatibilita MeSH
• homologní transplantace mortalita   statistika a číselné údaje   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nemoc štěpu proti hostiteli epidemiologie   mortalita   MeSH
• sourozenci MeSH
• statistika jako téma MeSH
• transplantace kostní dřeně * mortalita   statistika a číselné údaje   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH

Allogeneic hematopoietic cell transplantation (allo-HCT) is recommended for core-binding factor mutated (CBF) AML patients achieving second complete remission (CR2). However, approximately 20% of patients may relapse after transplant and donor preference remains unclear. We compared in this EBMT global multicenter registry-based analysis the allo-HCT outcomes using either haploidentical (Haplo), matched siblings donors (MSD), or 10/10 matched unrelated donors (MUD). Data from 865 de novo adult CBF AML patients in CR2 receiving allo-HCT in 227 EBMT centers from 2010 to 2022 were analyzed, in which 329 MSD, 374 MUD, and 162 Haplo-HCTs were included. For the entire cohort, 503 (58%) patients were inv(16)/CBFB-MYH11 and 362 patients (42%) were t(8;21)/RUNX1-RUNX1T1 AML. On multivariate analysis, Haplo-HCT was associated with a lower Relapse Incidence (RI) compared to either MSD (hazard ratio [HR] = 0.56, 95% CI 0.32-0.97; p < .05) or MUD (HR = 0.57, 95% CI: 0.33-0.99, p < .05). No significant difference was observed among the 3 types of donors on LFS, OS and GRFS. CBF-AML with t(8;21) was associated with both higher RI (HR = 1.79, 95% CI 1.3-2.47; p < .01) and higher NRM (HR = 1.58, 95% CI 1.1-2.27; p < .01) than CBF-AML with inv(16), which led to worse LFS, OS and GRFS. To conclude, for CBF-AML patients in CR2, Haplo-HCTs were associated with a lower RI compared to MSD and MUD allo-HCTs. There was no difference on LFS, OS or GRFS. CBF AML patients with inv(16) had a better progonosis than those with t(8;21) after allo-HCT in CR2.

• MeSH
• akutní myeloidní leukemie * terapie   genetika   MeSH
• alografty MeSH
• dospělí MeSH
• haploidentická transplantace metody   MeSH
• incidence MeSH
• indukce remise MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nepříbuzný dárce * MeSH
• recidiva * MeSH
• registrace MeSH
• senioři MeSH
• sourozenci * MeSH
• transkripční faktor PEBP2 genetika   MeSH
• transplantace hematopoetických kmenových buněk * metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• srovnávací studie MeSH
• Geografické názvy
• Evropa MeSH

PURPOSE: Using the International Standard Classification of Education (ISCED), we examined the educational and vocational pathways of two comparable, parental cohorts: childhood cancer survivors (CCS) and their siblings. Both cohorts had previously entered parenthood. The aim of the study was to elucidate whether childhood cancer and treatment affect the educational pathways chosen by parents who are former patients. METHODS: We analysed data that was collected from childhood cancer survivors and their siblings regarding their offspring's health within the FeCt Multicentre Offspring Study (conducted 2013-2016). We evaluated and compared the professional pathways of (i) all participating survivors and all participating siblings and those of (ii) survivors and their biological siblings. RESULTS: Overall information on parental gender, age, and education were available from 1077 survivors and 246 siblings (group (i)). The majority of participants were female with a mean age of 35.2 (survivor) and 37.9 (sibling) years at time of survey. For subgroup (ii), analysis information was available on 191 survivors and 210 siblings. Fathers achieved university degrees significantly more often than mothers (p = 0.003 (i), p < 0.001 (ii)). The distribution of professional education was not significantly different between cancer survivors and siblings in either cohort (i) or (ii). CONCLUSIONS: Regarding our research on the educational and vocational trajectory of CCS, patients can be reassured that family planning and vocational education are well compatible. Inequalities regarding gender-specific educational pathways remain to be addressed. IMPLICATIONS FOR CANCER SURVIVORS: CCS should monitor their fertility status regularly and, if necessary, cryopreserve germ cells or tissue in order to optimize their family planning. Educational opportunities should be pursued as desired and with confidence. Local as well as European aftercare programs can assist with family planning and education.

• MeSH
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• nádory * terapie   MeSH
• přežívající onkologičtí pacienti * MeSH
• přežívající MeSH
• rodiče MeSH
• sourozenci MeSH
• stupeň vzdělání MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Nejčastější primární nádor jater u dětí je hepatoblastom. Jednou z příčin vzniku může být genetická predispozice. Cca 14 % hepatoblastomů vyrůstá na podkladě familiární adenomatózní polypózy. Popisujeme kazuistiku rodiny s genetickou predispozicí - ze 4 dětí 3 byly pozitivně testovány na genetice s FAP, u všech 3 dětí se rozvinul hepatoblastom v útlém dětském věku. Prezentovaná rodina podporuje genetický skrínink dětí z FAP pozitivní rodiny ve věku 6 měsíců až 1 rok s následnou dispenzarizací.

Hepatoblastoma is the most common primary tumour of the liver in children. Genetic predisposition may be one of the causative factors. Approximately 14 % of hepatoblastomas occur as a result of familial adenomatous polyposis. We describe a case report of a family with a genetic predisposition - three out of four children tested positive for FAP, and the three children developed hepatoblastoma at a very early age. The presented family supports genetic screening of children from a FAP-positive family at the age of 6 months to 1 year with subsequent surveillance.

• MeSH
• anamnéza MeSH
• familiární adenomatózní polypóza * komplikace   patologie   MeSH
• genetická predispozice k nemoci MeSH
• hepatoblastom * etiologie   genetika   patofyziologie   MeSH
• lidé MeSH
• nádory etiologie   klasifikace   MeSH
• předškolní dítě MeSH
• riziko MeSH
• rodokmen MeSH
• sekvenování exomu MeSH
• sourozenci MeSH
• Check Tag
• lidé MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

BACKGROUND: Idiopathic generalized epilepsy (IGE) is one of the most common epilepsies and is believed to have a strong genetic origin. Patients with IGE present largely heterogeneous neurocognitive profiles and might show some neurocognitive impairments. Furthermore, IGE siblings may demonstrate worse results in neuropsychological tests as well. In our study, we aimed to map the neurocognitive profile both in patients with IGE and the siblings. We also sought to establish a neurocognitive profile for each IGE syndrome. METHODS: The research sample included 110 subjects (IGE n = 46, biological siblings BS n = 16, and healthy controls n = 48) examined. Subjects were neuropsychologically examined in domains of intelligence, attention, memory, executive, and motor functions. The data obtained from the examination were statistically processed to determine whether and how IGE patients (including distinct syndromes) and the siblings differed neurocognitively from healthy controls (adjusted z-scores by age, education, and gender, and composite z-scores of cognitive domains). Data on anti-seizure medication, including defined daily doses, were obtained and included in the analysis. RESULTS: IGE patients and their biological siblings performed significantly worse in most of the neuropsychological tests than healthy controls. The neurocognitive profile of composite z-scores showed that IGE and biological siblings had equally significantly impaired performance in executive functions. IGE group also demonstrated impaired composite attention and motor function scores. The profile of individual IGE syndromes showed that JAE, JME, and EGTCS had significantly worse performance in composite execution score and motor function score. JAE presented significantly worse performance in intelligence and attention. JME exhibited significantly worse composite score in the attention domain. Anti-seizure medication, depression, and quality of life were unrelated to cognitive performance in IGE group. The level of depression significantly predicted the overall value of quality of life in patients with IGE, while cognitive domains, sociodemographic, and clinical factors were unrelated. CONCLUSION: Our study highlights the importance to consider the neurocognitive profile of IGE patients that can lead to difficulties in their education, acceptance, and management of coping strategies. Cognitive difficulties of IGE siblings could support a hypothesis that these impairments emerge from heritable traits.

• MeSH
• epilepsie generalizovaná * MeSH
• imunoglobulin E MeSH
• kvalita života MeSH
• lidé MeSH
• neuropsychologické testy MeSH
• sourozenci * psychologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Relationships among siblings play a crucial role in early socialization and further social development. Siblings inherently belong to the system of family relationships; their observation without involving parent-child bonds, is to some extent, generalization. Therefore, our research analyzes with mutual connections between parenting styles and the characteristics of siblings' relationships in a family using a quantitative design of data collection and processing. The outputs from the Sibling Relationship Questionnaire and Questionnaire of Parenting Styles in a Family were collected from 264 bachelor's students. The study found the overall associations of positive emotional relationships and freedom provided by parents with generally desirable characteristics of siblings' bonds and vice versa, and associations between negative emotional relationships and requirements with negatively perceived traits of siblings' bonds. The unexpected outcome of our research is that it revealed more connections between paternal parenting styles and the characteristics of sibling relationships than with those of maternal parenting styles. To reflect the complexity of these relationships more precisely, complex structural equation models were created and successfully adjusted.

• MeSH
• lidé MeSH
• rodiče psychologie   MeSH
• rodičovství * psychologie   MeSH
• socializace MeSH
• sourozenci * psychologie   MeSH
• sourozenecké vztahy MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Cardiac-urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin-related gene expression. However, it is also highly expressed in other tissues and associated with various organ anomalies. The clinical picture is primarily dominated by complex congenital cardiac developmental defects, pulmonary hypoplasia, congenital diaphragmatic hernia, and urogenital malformations. CASE PRESENTATION: We present case reports of two siblings of unrelated parents in whom whole-exome sequencing was indicated due to familial occurrence of extensive developmental defects. A new, previously undescribed splicing pathogenic variant c.1388+2T>G in the MYRF gene has been identified in both patients. Both parents are unaffected, tested negative, and have another healthy daughter. The identical de novo event in siblings suggests gonadal mosaicism, which can mimic recessive inheritance. CONCLUSIONS: To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.

• MeSH
• lidé MeSH
• mozaicismus * MeSH
• sekvenování exomu MeSH
• sourozenci * MeSH
• syndrom MeSH
• transkripční faktory genetika   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

• MeSH
• dítě MeSH
• interpersonální vztahy MeSH
• klinická etika MeSH
• komunikace MeSH
• lidé MeSH
• péče o dítě * etika   organizace a řízení   MeSH
• rodina psychologie   MeSH
• sourozenci psychologie   MeSH
• vážná nemoc * psychologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• přehledy MeSH