Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Purpose: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency. Methods: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously. We add 21 individuals with similar PRR12 variants identified via matchmaking platforms, bringing the total number to 24. Results: We observed 12 frameshift, 6 nonsense, 1 splice-site, and 2 missense variants and one patient with a gross deletion involving PRR12. Three individuals had additional genetic findings, possibly confounding the phenotype. All patients had developmental impairment. Variable structural eye defects were observed in 12/24 individuals (50%) including anophthalmia, microphthalmia, colobomas, optic nerve and iris abnormalities. Additional common features included hypotonia (61%), heart defects (52%), growth failure (54%), and kidney anomalies (35%). PrediXcan analysis showed that phecodes most strongly associated with reduced predicted PRR12 expression were enriched for eye- (7/30) and kidney- (4/30) phenotypes, such as wet macular degeneration and chronic kidney disease. Conclusion: These findings support PRR12 haploinsufficiency as a cause for a novel disorder with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities. Graphic Abstract: [Figure not available: see fulltext.

Nursing Care about a Patient with a Breast Carcinoma Diagnosis.

Department of nursingÚstav ošetřovatelství3. lékařská fakultaThird Faculty of Medicin

Therapeutically rehabilitation procedures for dysmenorrhea

Tato bakalářská práce se zaměřuje na problematiku bolestivé menstruace a na možnosti jejího ovlivnění. Teoretická část nastiňuje kineziologii pohybového aparátu v oblasti pánve, činnost ženského reprodukčního systému, menstruační cyklus a s ním spjaté problémy či jeho poruchy. Dále prezentuje vyšetření při dysmenoree a možnosti její léčby. Praktická část sleduje vztah bolestivé menstruace a kvality pohybového systému, zejména hlubokého stabilizačního systému. Zjišťuje také procentuální zastoupení dysmenorey u mladých dívek. Výzkum potvrzuje pozitivní ovlivnění primární bolestivé menstruace prostřednictvím aktivace hlubokého stabilizačního systému páteře a uvolnění bederní oblasti pomocí vybraných cviků z metody Ludmily Mojžíšové. Také ukazuje na podobnost nálezu při vyšetření kineziologickým rozborem stoje u pacientek s dysmenoreou.Katedra fyzioterapie a ergoterapieObhájenoThis bachelor's work focuses on issues of painful menstruation and possibilities of its influence.The theoretical part of this work outlines the kinesiology of the musculoskeletal system in the pelvis, the activity of the female reproductive system, the menstrual cycle and related problems or its disorders. Further it presents the examination of dysmenorrhea and the possibilities of its treatment. The practical part of this work describes the relationship between painful menstruation and the quality of the musculoskeletal system, particularly the deep stabilization system. It also discovers the percentage of dysmenorrhea between young girls.The research confirms the positive influence of primary dysmenorrhea by activation of the deep stabilization system of the spine and release of the lumbar area through selected exercise from Ludmila Moses's method. It also indicates at the similarity of the report on examination of kinesiological analysis of the stand between patients with dysmenorrhea

The Role of a Nurse and Specific Nursing Care for Minimal Invasive Cardiac Surgery Procedures

The overall development of scientific and technical disciplines has enabled the introduction of minimally invasive surgical techniques in cardiac surgery practice. Implementation of minimally invasive cardiac surgery brings many positive effects for patients and healthcare. At the same time, however, it requires for the nurses to have appropriate knowledge, skills and experience to effectively provide comprehensive nursing care. The thesis is divided into theoretical and empirical parts. A total of four objectives were set. The first goal determines the specifics of nursing care of the patient before and after minimally invasive cardiac surgery. The second mapping the differences in nursing care in minimally invasive cardiac surgery from heart surgery classical approach. The third objective determines the role of nurses in patient awareness of minimally-invasive cardiac surgery. The fourth objective is focused on the needs and feelings of patients undergoing minimally invasive cardiac surgery. The results of qualitative research showed that preoperative and postoperative nursing care for minimally invasive cardiac surgery is similar to nursing care before and after cardiac surgery by standard median sternotomy approach. Nurses often wipe away differences associated with nursing care of standard and minimally invasive surgery, differences arose mainly after analysis of the data obtained. The differences include shorter hospital stay, shorter duration of mechanical ventilation, lower incidence of postoperative confusion, differences in invasive inputs, rehabilitation and awareness. For the majority of respondents from the ranks of the patients minimally invasive heart surgery technique had clearly positive impact on their mental condition

Ověření možnosti zavedení EMS pro nakládání s kaly z komunálních čistíren odpadních vod

Import 26/11/2009PrezenčníNeuvedenoNeuveden

Utilization of ground subsidence caused by underground mining to produce a map of possible land-use areas for urban planning purposes

The presented work deals with a new type of map titled—a map of a possible area use for planned built-up area purposes in areas affected by underground mining-related subsidence. Generally, accepted theory of a subsidence basin must be applied to such areas, and in order to produce the map, ground subsidence isolines, land-use plan, and slope deformation distribution were considered. The map can be used by land-use planners, future developers, investors, engineering geologists, etc. to inform future development of such land. It is clear that land-use planners may not have sufficient knowledge to decide whether the ground subsidence value is acceptable or not for a particular development purpose. At the same time, it shows that the existence of slope deformations also influences the siting of new buildings in undermined areas and therefore these were included in the map compilation process. The outcome is three area categories where mining subsidence impacts surface development, namely—low influence on the planned development, economically acceptable influence on the planned development, and extreme influence with development prohibited. The research was carried out in the Darkov Region in the northeast of the Czech Republic, where black coal is mined and extensive mining impact on the surface identified. The map produced in this study will help the controlled development of the region by means of appropriate land-use planning.Web of Science8158857

A new non-destructive method of alternative determination of the thermoelectric cell efficiency

Web of Science1422421

A method of utilization of polyurethane after the end of its life cycle

Web of Science141069

A proposal for simplifying the method of evaluation of uncertainties in measurement results

The paper deals with the innovative ways of nonstandard, simplifying applications of the valid method for evaluating uncertainties in measurement results and with the definition of conditions of their usability. The evaluation of a substitute criterion for measurement accuracy by means of a relative difference between the measurand and its reference value is proposed. This nonstandard relative uncertainty is comparable with the overall relative standard uncertainty in the measurement result, and thus the evaluation of it enables other simplifications in the calculations of measurement result uncertainties. The use of the simplified evaluation of measurement results is illustrated in two experiments in measurement of the coefficient of thermal conductivity of an insulating material newly developed for the needs of building practice, namely measurement using commercial instruments, and measurement using a newly developed original measuring instrument.Web of Science1316