• MeSH
• DNA vakcíny aplikace a dávkování   imunologie   MeSH
• finanční podpora výzkumu jako téma MeSH
• lidé MeSH
• plazmidy MeSH
• protilátky virové biosyntéza   MeSH
• vakcína proti hepatitidě B imunologie   MeSH
• vakcína proti viru herpes simplex imunologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH

Autoři doporučují užívat správný překlad anglického "Parental Alienation Syndrome" (PAS) jako syndrom odcizeného rodiče. Shrnují obsáhlou diskusi týkající se PAS a zaujímají kritické stanovisko k užití pojmu syndrom, k pokusům považovat vztahový problém rodičů a dítěte za medicínskou diagnózu a především k tomu, že jednoznačně doporučovaným terapeutickým řešením by mělo být přemístění dítěte do péče zavrhovaného rodiče. Autoři poukazují na to, že PAS je formulován jako nástroj k řešení soudních sporů a zaujímají kritické stanovisko k doporučování soudních sporů jako řešení situace mezi rodiči a dítětem. PAS považují za ideologický koncept sloužící k organizování otců trpících nemožností hodnotného styku s dětmi a staví se kriticky k možnosti jednoduše řešit složitou a často neřešitelnou situaci.

The authors recommend to use the correct translation of English "Parental Alienation Syndrom" (PAS) as syndrom odcizeného rodiče. They summarize the extensive discussion concerning PAS and take up critical stance toward use of the notion of syndrome, towards attempts to take the problem of relationship of parents and child for medical diagnosis and before all to univocal recommendation to solve the problem by relocation of the child into the care of refused parent. The authors point to the fact that PAS is formulated as an instrument for solution of law suits and take critical stance to recommendation of law-suits as way of solution of situation of parents and chlidren. They see PAS as ideological concept serving to organizing of fathers suffering by lack of rewarding contact vith children and take critical stance to easy solution of intricate and often unsolvable situation.

• MeSH
• lidé MeSH
• péče o dítě MeSH
• rozvod MeSH
• výchova dítěte MeSH
• vztahy mezi matkou a dítětem MeSH
• vztahy mezi rodiči a dětmi zákonodárství a právo   MeSH
• Check Tag
• lidé MeSH

PURPOSE: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. METHODS: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. RESULTS: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). CONCLUSION: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.

• MeSH
• alely MeSH
• genotyp MeSH
• lidé MeSH
• mentální retardace * diagnóza   genetika   MeSH
• sekvenování exomu MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The immigrants issue in the Czech Republic is still generally untransparent and undeveloped in all the areas. One of the unsolved problems is the assessment of health condition of immigrants and the availability of health care for this population group. It is necessary to solve this issue in context of social health determinants concept. The aim of this notification is to analyse the information about the health condition of immigrants and the availability of health care for them. In the analysis of this issue, mainly some research works of Health care ministry of the Czech Republic and the staff of University of South Bohemia in České Budejovice were used. Furthermore, the data based on the ÚZIS (Institute of Health Information and Statistics) and ČSU (Czech Statistical Office) reports were used. Data from information network about good practice in health care for immigrants and ethnical minorities in Europe were a significant source of information about health condition of immigrants. In the study, we found out there are no data about total morbidity in immigrants. We monitored only hospitalised individuals. There are no data about outpatients’ department care. A significant phenomenon in monitoring of health condition of immigrants is the fact that the immigrants avoid regular preventive examinations because they are afraid of losing their jog. Immigrants have the highest rage of job-related industries. There is discrimination of immigrants in the access to the health insurance. The aim of the authors of the study is to inform about this problem, to present the information sources, determine a way of health care costs coverage and to provide an overview of the current state of hospitalised foreigners in the Czech Republic.

• Klíčová slova
• imigranti,
• MeSH
• hospitalizovaní pacienti klasifikace   statistika a číselné údaje   MeSH
• lidé MeSH
• osoby s přechodným pobytem a migranti * statistika a číselné údaje   MeSH
• pracovní úrazy MeSH
• samovolný potrat MeSH
• statistika jako téma MeSH
• ukazatele zdravotního stavu * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Závislé osoby vykazujú preukázateľne veľké množstvo neriešených problémov v rôznych oblastiach svojho života. Závažnosť týchto problémov vytvára vonkajší a vnú- torný tlak, ktorý vnímame ako motivačný faktor pre rozhodnutie závislého k riešeniu situácie. Pritom považujeme motiváciu ku zmene a jej udržiavanie za základné východisko pre vstup do procesu úzdravy a udržiavanie abstinencie. Motivácia zá- vislých klientov je považovaná za súčasť komplexu významných vnemov súvisiacich s liečbou. Úroveň motivácie pri vstupe do liečby významne ovplyvňuje dĺžku liečby a  jej výsledky. Príspevok sa zaoberá mierou závažnosti problémov závislých osôb a celkovou mierou ich motivácie pri vstupe do resocializačného strediska a prináša vybrané výstupy realizovaného výskumu. Prezentuje výsledky výskumu realizované- ho na výskumnom súbore 138 klientov pred vstupom do 15 resocializačných centier vo Slovenské republike v priebehu jedného roka. Ako výskumné nástroje boli použité štandardizované dotazníky EuropASI a CMRS. Výskum ukazuje úroveň motivácie a vonkajších okolností, ktoré sú nevyhnutné pre vstup a udržanie klientov v procese resocializácie. Medzi zistené vonkajšie okolnosti patria vysoká závažnosť problémov vo vzťahových problémoch v rodinnom systéme a s ľuďmi mimo rodiny. Toto zistenie poukazuje na legitimitu sociálnej práce a jej metódy a odôvodňuje zmeny v systéme práce so závislým klientom smerom k systémovej práce s celou rodinou.

Addicted persons have a large number of unsolved problems in different areas of their lives. The magnitude of these problems creates external and internal pressure, which is perceived as a motivating factor for the decision of addicted persons to solve their situation. In doing so, we consider the motivation for change and its maintenance as a foundation for entering the healing process and the keeping of abstinence. Motivation of addicted clients is perceived as a part of the “essential treatment-related perceptions” complex. The level of motivation when entering treatment significantly influences the treatment duration, as well as its outcome. This paper provides selected results of conducted research and deals with the extent of problems importance of addicted persons and the whole extent of their motivation while entering the resocialization centre. It presents results of a research conducted on a research set of 138 clients before entering 15 resocialization centres in the Slovak Republic over the course of one year. EuropASI and CMRS standardized questionnaires were used as research tools. The research shows the level of motivation and external circumstances which are crucial for entering and maintaining clients in a resocialization process. Among the identified external circumstances, there is also a high severity of problems in relationship problems in a family system and with people outside a family. This finding points to the legitimacy of social work and its methods and justifies the changes in a system of work with an addicted client towards a systemic work with the whole family.

• Klíčová slova
• resocializace,
• MeSH
• adherence a compliance při léčbě psychologie   MeSH
• lidé MeSH
• motivace * MeSH
• poruchy spojené s užíváním psychoaktivních látek * psychologie   terapie   MeSH
• průzkumy a dotazníky MeSH
• terapeutická komunita MeSH
• uživatelé drog psychologie   MeSH
• výzkum MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH

Závislé osoby vykazujú preukázateľne veľké množstvo neriešených problémov v rôznych oblastiach svojho života. Závažnosť týchto problémov vytvára vonkajší a vnú- torný tlak, ktorý vnímame ako motivačný faktor pre rozhodnutie závislého k riešeniu situácie. Pritom považujeme motiváciu ku zmene a jej udržiavanie za základné východisko pre vstup do procesu úzdravy a udržiavanie abstinencie. Motivácia zá- vislých klientov je považovaná za súčasť komplexu významných vnemov súvisiacich s liečbou. Úroveň motivácie pri vstupe do liečby významne ovplyvňuje dĺžku liečby a  jej výsledky. Príspevok sa zaoberá mierou závažnosti problémov závislých osôb a celkovou mierou ich motivácie pri vstupe do resocializačného strediska a prináša vybrané výstupy realizovaného výskumu. Prezentuje výsledky výskumu realizované- ho na výskumnom súbore 138 klientov pred vstupom do 15 resocializačných centier vo Slovenské republike v priebehu jedného roka. Ako výskumné nástroje boli použité štandardizované dotazníky EuropASI a CMRS. Výskum ukazuje úroveň motivácie a vonkajších okolností, ktoré sú nevyhnutné pre vstup a udržanie klientov v procese resocializácie. Medzi zistené vonkajšie okolnosti patria vysoká závažnosť problémov vo vzťahových problémoch v rodinnom systéme a s ľuďmi mimo rodiny. Toto zistenie poukazuje na legitimitu sociálnej práce a jej metódy a odôvodňuje zmeny v systéme práce so závislým klientom smerom k systémovej práce s celou rodinou.

Addicted persons have a large number of unsolved problems in different areas of their lives. The magnitude of these problems creates external and internal pressure, which is perceived as a motivating factor for the decision of addicted persons to solve their situation. In doing so, we consider the motivation for change and its maintenance as a foundation for entering the healing process and the keeping of abstinence. Motivation of addicted clients is perceived as a part of the “essential treatment-related perceptions” complex. The level of motivation when entering treatment significantly influences the treatment duration, as well as its outcome. This paper provides selected results of conducted research and deals with the extent of problems importance of addicted persons and the whole extent of their motivation while entering the resocialization centre. It presents results of a research conducted on a research set of 138 clients before entering 15 resocialization centres in the Slovak Republic over the course of one year. EuropASI and CMRS standardized questionnaires were used as research tools. The research shows the level of motivation and external circumstances which are crucial for entering and maintaining clients in a resocialization process. Among the identified external circumstances, there is also a high severity of problems in relationship problems in a family system and with people outside a family. This finding points to the legitimacy of social work and its methods and justifies the changes in a system of work with an addicted client towards a systemic work with the whole family.

• MeSH
• lidé MeSH
• motivace MeSH
• návykové chování MeSH
• sociální přizpůsobení MeSH
• terapie metody   psychologie   MeSH
• závislost (psychologie) MeSH
• Check Tag
• lidé MeSH

Lck, a member of the Src kinase family, is a non-receptor tyrosine kinase involved in immune cell activation, antigen recognition, tumor growth, and cytotoxic response. The enzyme has usually been linked to T lymphocyte activation upon antigen recognition. Lck activation is central to CD4, CD8, and NK activation. However, recently, it has become clearer that activating the enzyme in CD8 cells can be independent of antigen presentation and enhance the cytotoxic response. The role of Lck in NK cytotoxic function has been controversial in a similar fashion as the role of the enzyme in CAR T cells. Inhibiting tyrosine kinases has been a highly successful approach to treating hematologic malignancies. The inhibitors may be useful in treating other tumor types, and they may be useful to prevent cell exhaustion. New, more selective inhibitors have been documented, and they have shown interesting activities not only in tumor growth but in the treatment of autoimmune diseases, asthma, and graft vs. host disease. Drug repurposing and bioinformatics can aid in solving several unsolved issues about the role of Lck in cancer. In summary, the role of Lck in immune response and tumor growth is not a simple event and requires more research.

• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. Still, the overall burden of de novo variants as well as novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing in 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The overall diagnostic yield was 49.8% (n = 115/231) with de novo variants contributing to more than 80% (n = 93/115) of all solved cases. De novo variants affected 72 different-mostly constrained-genes. In addition, we identified putative pathogenic variants in 16 genes not linked to NDDs to date. Reanalysis performed in 80 initially unsolved cases revealed a definitive diagnosis in two additional cases. Our study consolidates the contribution and genetic heterogeneity of de novo variants in NDDs highlighting trio exome sequencing as effective diagnostic tool for NDDs. Besides, we illustrate the potential of a trio-approach for candidate gene discovery and the power of systematic reanalysis of unsolved cases.

• MeSH
• centra terciární péče MeSH
• dítě MeSH
• dospělí MeSH
• exom genetika   MeSH
• fenotyp MeSH
• genetická predispozice k nemoci genetika   MeSH
• genetická variace genetika   MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• neurovývojové poruchy genetika   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• sekvenování exomu metody   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Mobile technologies are constantly evolving and with the development of Internet of Things we can expect continuous increase of various applications. Mobile technologies have undeniable opportunities to play an important role in health services. Concerning purely technical aspects, almost every problem can be solved. However, there are still many unsolved and unclear issues related with ethics and governance mechanisms for mobile phone applications. These issues are even more critical in medical and health care applications of mobile technologies. This paper tries to analyse ethical, and privacy-related challenges that may occur when introducing Personal Portable Devices (PPD) to collect and record personal health data in health care and welfare environment.

• MeSH
• analýza selhání vybavení metody   MeSH
• design vybavení etika   MeSH
• důvěrnost informací zákonodárství a právo   MeSH
• internet etika   zákonodárství a právo   MeSH
• mobilní aplikace etika   zákonodárství a právo   MeSH
• telemedicína etika   zákonodárství a právo   MeSH
• zabezpečení počítačových systémů etika   zákonodárství a právo   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26 centers, of whom 722 carried no or one pathogenic ABCA4 variant, while 136 cases carried two ABCA4 alleles, one of which was a frequent mild variant, suggesting that deep-intronic variants (DIVs) or other cis-modifiers might have been missed. After single molecule molecular inversion probes (smMIPs)-based sequencing of the complete 128-kb ABCA4 locus, the effect of putative splice variants was assessed in vitro by midigene splice assays in HEK293T cells. The breakpoints of copy number variants (CNVs) were determined by junction PCR and Sanger sequencing. ABCA4 sequence analysis solved 207 of 520 (39.8%) naive or unsolved cases and 70 of 202 (34.7%) monoallelic cases, while additional causal variants were identified in 54 of 136 (39.7%) probands carrying two variants. Seven novel DIVs and six novel non-canonical splice site variants were detected in a total of 35 alleles and characterized, including the c.6283-321C>G variant leading to a complex splicing defect. Additionally, four novel CNVs were identified and characterized in five alleles. These results confirm that smMIPs-based sequencing of the complete ABCA4 gene provides a cost-effective method to genetically solve retinopathy cases and that several rare structural and splice altering defects remain undiscovered in Stargardt disease cases.

• MeSH
• ABC transportéry genetika   MeSH
• HEK293 buňky MeSH
• lidé MeSH
• makulární degenerace * genetika   MeSH
• mutace genetika   MeSH
• retinální dystrofie * genetika   MeSH
• sekvenční analýza MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH