INTRODUCTION: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. Patients with NS exhibit certain characteristic features, including cardiac defects, short stature, distinctive facial appearance, skeletal abnormalities, cognitive deficits, and predisposition to certain cancers. Here, a clinical practice survey was developed to learn more about differences in the diagnosis and management of this disease across Europe. The aim was to identify gaps in the knowledge and management of this rare disorder. MATERIALS AND METHODS: The European Medical Education Initiative on NS, which comprised a group of 10 experts, developed a 60-question clinical practice survey to gather information from European physicians on the diagnosis and clinical management of patients with diseases in the NS phenotypic spectrum. Physicians from three specialities (clinical genetics, paediatric endocrinology, paediatric cardiology) were invited to complete the survey by several national and European societies. Differences in answers provided by respondents between specialities and countries were analysed using contingency tables and the Chi-Squared test for independence. The Friedman's test was used for related samples. RESULTS: Data were analysed from 364 respondents from 20 European countries. Most respondents came from France (21%), Spain (18%), Germany (16%), Italy (15%), United Kingdom (8%) and the Czech Republic (6%). Respondents were distributed evenly across three specialities: clinical genetics (30%), paediatric endocrinology (40%) and paediatric cardiology (30%). Care practices were generally aligned across the countries participating in the survey. Delayed diagnosis did not emerge as a critical issue, but certain unmet needs were identified, including transition of young patients to adult medical services and awareness of family support groups. CONCLUSION: Data collected from this survey provide a comprehensive summary of the diagnosis and clinical management practices for patients with NS across different European countries.

• MeSH
• genetické testování MeSH
• lékařská praxe - způsoby provádění * MeSH
• lidé MeSH
• Noonanové syndrom diagnóza   genetika   terapie   MeSH
• průzkumy a dotazníky MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

Autorky približujú výsledky prieskumu zameraného na zistenie postojov sestier k súčasne prebiehajúcim zmenám v ošetrovateľskej praxi, s osobitným dôrazom na postoje sestier k ošetrovateľskému procesu. Hlavnou prieskumnou metódou bola dotazníková metóda. Dvadsiatimišiestimi položkami autorky zisťovali predmetné oblasti vybranej problematiky. Dotazník bol určený sestrám pracujúcim na oddeleniach nemocníc v Bratislave a blízkom okolí. Autorky si stanovili jeden hlavný cieľ a čiastkové ciele. Stanovili si osem pracovných hypotéz. Cieľom prieskumu bolo zistiť postoje sestier k súčasným zmenám v ošetrovateľskej praxi. Konkrétne zisťovali, ako sestry prijali zmeny v ošetrovateľskej praxi, či sa stotožnili s novou metódou poskytovania ošetrovateľskej starostlivosti, ako zvládajú vedenie ošetrovateľskej dokumentácie. Ďalej aký prínos majú tieto zmeny pre ne samotné, tak i pre pacienta. Ďalej či udržujú krok s novým trendom – permanentným, celoživotným vzdelávaním sa. Čo očakávajú vo vzťahu k týmto zmenám, či i naďalej zostanú vykonávať svoje ťažké, ale veľmi potrebné a krásne povolanie. Respondentskú vzorku, ktorú tvorili sestry pracujúce na oddeleniach, rozdelili do troch skupín podľa stupňa ich vzdelania. Vyhodnotením anonymných dotazníkov autorky získali základné údaje, ktoré uvádzajú v tabuľkách za jednotlivé položky. V závere príspevku vyhodnocujú hlavný cieľ a čiastkové ciele, pracovné hypotézy a uvádzajú viaceré odporučenia pre klinickú prax.

The authors present results of a survey aimed at the identification of the attitude of nurses to the currently occurring process of the implementation of changes in the nursing practice with a special emphasize put onto the approach of the nurses to the nursing process. Questionnaires were used as the main tool in this investigation. Based on 26 items of the questionnaire, the authors determined subject areas within the scope considered. The questionnaire was designed for nurses working at departments of hospitals in Bratislava and surroundings of the capital city. The authors established one principal target and partial targets. They identified eight working hypotheses. The purpose of the project was to determine attitudes of nurses to the changes in the nursing practice, which are currently being implemented. They particularly considered how the nurses accepted changes in the nursing practice, whether or not they were identified with the new method of providing the nursing care, and how they manage keeping of the nursing documentation. Further questions were as follows: what are the benefits for the nurses themselves and for the patients, whether or not they keep pace with the new trend – lifelong education, what is their expectation associated with the changes and whether or not they intend to adhere to their difficult but very useful and nice profession. The sample of responders employed at the departments was divided into three groups depending on the degree of their education. Based on the evaluation of the anonymous questionnaires, the authors acquired principal data, which are summarized in tables arranged with respect to particular items. In the conclusion of the contribution, the main target, the partial targets and the working hypotheses are evaluated and a number of recommendations for clinical practice are presented.

• MeSH
• kontinuální vzdělávání zdravotních sester metody   organizace a řízení   trendy   MeSH
• lidé MeSH
• ošetřovatelská péče metody   pracovní síly   trendy   MeSH
• ošetřovatelské záznamy normy   statistika a číselné údaje   MeSH
• plánování péče o pacienty ekonomika   normy   organizace a řízení   MeSH
• právní vědy MeSH
• průzkumy a dotazníky normy   využití   MeSH
• Check Tag
• lidé MeSH
• Geografické názvy
• Slovenská republika MeSH

OBJECTIVES: Despite existence of international guidelines for diagnosis and management of inflammatory bowel diseases (IBD) in children, there might be differences in the clinical approach. METHODS: A survey on clinical practice in paediatric IBD was performed among members of the ESPGHAN Porto IBD working group and interest group, PIBD-NET, and IBD networks in Canada and German-speaking countries (CIDsCANN, GPGE), using a web-based questionnaire. Responses to 63 questions from 106 paediatric IBD centres were collected. RESULTS: Eighty-four percentage of centres reported to fulfil the revised Porto criteria in the majority of patients. In luminal Crohn disease (CD), exclusive enteral nutrition is used as a first-line induction therapy and immunomodulators (IMM) are used since diagnosis in the majority of patients. Infliximab (IFX) is mostly considered as first-line biological. Sixty percentage of centres have experience with vedolizumab and/or ustekinumab and 40% use biosimilars. In the majority of ulcerative colitis (UC) patients 5-aminosalicylates are continued as concomitant therapy to IMM (usually azathioprine [AZA]/6-MP). After ileocaecal resection (ICR) in CD patients without postoperative residual disease, AZA monotherapy is the preferred treatment. CONCLUSIONS: A majority of centres follows both the Porto diagnostic criteria as well as paediatric (ESPGHAN/ECCO) guidelines on medical and surgical IBD management. This reflects the value of international societal guidelines. However, potentially desirable answers might have been given instead of what is true daily practice, and the most highly motivated people might have answered, leading to some bias.

• MeSH
• biosimilární léčivé přípravky terapeutické užití   MeSH
• chirurgie trávicího traktu metody   normy   statistika a číselné údaje   MeSH
• Crohnova nemoc diagnóza   terapie   MeSH
• dítě MeSH
• dodržování směrnic statistika a číselné údaje   MeSH
• gastroenterologie metody   normy   statistika a číselné údaje   MeSH
• gastrointestinální látky terapeutické užití   MeSH
• idiopatické střevní záněty diagnóza   terapie   MeSH
• imunologické faktory terapeutické užití   MeSH
• infliximab terapeutické užití   MeSH
• lékařská praxe - způsoby provádění statistika a číselné údaje   MeSH
• lidé MeSH
• mladiství MeSH
• pediatrie metody   normy   statistika a číselné údaje   MeSH
• průzkumy zdravotní péče MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• ulcerózní kolitida diagnóza   terapie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Kanada MeSH
• Německo MeSH

Vestibular rehabilitation (VR) is practiced across Europe but little in this area has been quantified. The aim of this study was to investigate current VR assessment, treatment, education, and research practices. This was an online, cross-sectional survey with 39 VR specific questions and four sections: demographics, current practice, education, and research. The survey was disseminated through the Dizzynet network to individual therapists through country-specific VR special interest groups. Results were analysed descriptively. A thematic approach was taken to analyse open questions. A total of 471 individuals (median age 41, range 23 - 68 years, 73.4% women), predominately physiotherapists (89.4%) from 20 European countries responded to the survey. They had worked for a median of 4 years (range < 1 - 35) in VR. The majority (58.7%) worked in hospital in-patient or out-patient settings and 21.4% in dedicated VR services. Most respondents specialized in neurology, care of the elderly (geriatrics), or otorhinolaryngology. VR was reported as hard/very hard to access by 48%, with the main barriers to access identified as lack of knowledge of health care professionals (particularly family physicians), lack of trained therapists, and lack of local services. Most respondents reported to know and treat benign paroxysmal positional vertigo (BPPV 87.5%), unilateral vestibular hypofunction (75.6%), and cervicogenic dizziness (63%). The use of vestibular assessment equipment varied widely. Over 70% used high-density foam and objective gait speed testing. Over 50% used dynamic visual acuity equipment. Infrared systems, Frenzel lenses, and dynamic posturography were not commonly employed (< 20%). The most frequently used physical outcome measures were the Clinical Test of the Sensory Interaction of Balance, Functional Gait Assessment/Dynamic Gait Index, and Romberg/Tandem Romberg. The Dizziness Handicap Inventory, Visual Analogue Scale, Falls Efficacy Scale, and the Vertigo Symptom Scale were the most commonly used patient reported outcome measures. Adaptation, balance, and habituation exercises were most frequently used (> 80%), with virtual reality used by 15.6%. Over 70% reported knowledge/use of Semont, Epley and Barbeque-Roll manoeuvres for the treatment of BPPV. Most education regarding VR was obtained at post-registration level (89.5%) with only 19% reporting pre-registration education. There was strong (78%) agreement that therapists should have professionally accredited postgraduate certification in VR, with blended learning the most popular mode. Three major research questions were identified for priority: management of specific conditions, effectiveness of VR, and mechanisms/factors influencing vestibular compensation and VR. In summary, the survey quantified current clinical practice in VR across Europe. Knowledge and treatment of common vestibular diseases was high, but use of published subjective and objective outcome measures as well as vestibular assessment varied widely. The results stress the need of improving both training of therapists and standards of care. A European approach, taking advantage of best practices in some countries, seems a reasonable approach.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• senioři MeSH
• vestibulární nemoci * epidemiologie   terapie   MeSH
• závrať * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

AIM: To date, there is a lack of international guidelines regarding the management of the endocrine features of individuals with Noonan syndrome (NS). The aim was to develop a clinical practice survey to gather information on current treatment and management of these patients across Europe. MATERIALS AND METHODS: A group of 10 experts from three clinical specialities involved in the management of NS patients (clinical geneticists, paediatric endocrinologists, and paediatric cardiologists) developed a 60-question clinical practice survey. The questionnaire was implemented in Survey Monkey and sent to physicians from these three specialities via European/national societies. Contingency tables and the Chi-Squared test for independence were used to examine differences between specialities and countries. RESULTS: In total, responses of 364 specialists (paediatric endocrinologists, 40%; geneticists, 30%; paediatric cardiologists, 30%) from 20 European countries were analysed. While endocrinologists mostly referred to national growth charts for the general population, geneticists mostly referred to NS-specific growth charts. Approximately half of the endocrinologists perform growth hormone (GH) stimulation tests in short patients with low IGF1 levels. Two thirds of endocrinologists begin GH treatment for short patients in early childhood (4-6.9 years), and over half of them selected a threshold of -2 standard deviation score (SDS) according to national growth charts. The main concerns about GH treatment appear to be presence of hypertrophic cardiomyopathy (HCM) (59%), increased risk of malignancy (46%), and limited efficacy (31%). When asked if they consider HCM as a contraindication for GH treatment, one third of respondents skipped this question, and among those who replied, two thirds selected 'cannot answer', suggesting a high level of uncertainty. A total of 21 adverse cardiac responses to GH treatment were reported. Although most respondents had not encountered any malignancy during GH treatment, six malignancies were reported. Finally, about half of the endocrinologists expected a typical final height gain of 1-1.5 SDS with GH treatment. CONCLUSION: This survey describes for the first time the current clinical practice of endocrine aspects of NS across Europe and helps us to identify gaps in the management but also in the knowledge of this genetic disorder.

• MeSH
• endokrinologové MeSH
• lékařská praxe - způsoby provádění MeSH
• lidé MeSH
• lidský růstový hormon terapeutické užití   MeSH
• nanismus diagnóza   farmakoterapie   MeSH
• Noonanové syndrom diagnóza   farmakoterapie   MeSH
• průzkumy a dotazníky MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: The majority of children with Noonan syndrome (NS) or other diseases from the RASopathy spectrum suffer from congenital heart disease. This study aims to survey cardiac care of this patient cohort within Europe. METHODS: A cross-sectional exploratory survey assessing the treatment and management of patients with NS by paediatric endocrinologists, cardiologists and clinical geneticists was developed. This report details responses of 110 participating paediatric cardiologists from multiple countries. RESULTS: Most paediatric cardiologists responding to the questionnaire were associated with university hospitals, and most treated <10 patients/year with congenital heart disease associated with the NS spectrum. Molecular genetic testing for diagnosis confirmation was initiated by 81%. Half of the respondents reported that patients with NS and congenital heart disease typically present <1y of age, and that a large percentage of affected patients require interventions and pharmacotherapy early in life. A higher proportion of infant presentation and need for pharmacotherapy was reported by respondents from Germany and Sweden than from France and Spain (p = 0.031; p = 0.014; Fisher's exact test). Older age at first presentation was reported more from general hospitals and independent practices than from university hospitals (p = 0.031). The majority of NS patients were followed at specialist centres, but only 37% reported that their institution offered dedicated transition clinic to adult services. Very few NS patients with hypertrophic cardiomyopathy (HCM) were reported to carry implantable cardioverter defibrillators for sudden cardiac death prevention. Uncertainty was evident in regard to growth hormone treatment in patients with NS and co-existing HCM, where 13% considered it not a contra-indication, 24% stated they did not know, but 63% considered HCM either a possible (20%) or definite (15%) contraindication, or a cause for frequent monitoring (28%). Regarding adverse reactions for patients with NS on growth hormone therapy, 5/19 paediatric cardiology respondents reported a total of 12 adverse cardiac events. CONCLUSIONS: Congenital heart disease in patients with NS or other RASopathies is associated with significant morbidity during early life, and specialty centre care is appropriate. More research is needed regarding the use of growth hormone in patients with NS with congenital heart disease, and unmet medical needs have been identified.

• MeSH
• dítě MeSH
• genetické testování MeSH
• kardiologové MeSH
• lékařská praxe - způsoby provádění * MeSH
• lidé MeSH
• lidský růstový hormon terapeutické užití   MeSH
• Noonanové syndrom * komplikace   diagnóza   genetika   terapie   MeSH
• průzkumy a dotazníky MeSH
• vrozené srdeční vady * diagnóza   etiologie   genetika   terapie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Surgical treatment of advanced ovarian cancer is a subject of fast development. The aim of this survey was to collect data on current surgical treatment from selected European gynecological oncology centers. METHODS: A questionnaire has been sent to gynecological oncology centers from 18 countries across Europe, which are presented on the ESGO Web site. Data were collected on an anonymous basis. All questions were related to the cytoreductive surgery of advanced ovarian cancer. RESULTS: Response rate reached 63%, and data from 17 European countries were analyzed. The median number of new patients with ovarian cancer treated annually in a single centre was 95. Whereas 19% of centers perform infracolic omentectomy only, 81% carry on total omentectomy. Approximately half of the centers conduct appendectomy in all patients with advanced ovarian cancer, 1/3 only if the appendix is macroscopically involved. Lymphadenectomy is carried out in 20% of centers in all cases but in 31% only if no residual disease is achieved. Proportion of patients in whom colorectal resection is performed ranged from less than 5% to more than 40%. Colorectal resection, splenectomy and liver resection are conducted by gynecological oncologist in 27%, 46%, and 12%, respectively. CONCLUSIONS: There were substantial differences in the spectrum and complexity of procedures performed in patients with advanced ovarian cancer among large European gynecologic oncology centers. Tendency to more complex surgery was shown in centers with a higher number of cases. Selected bowel and upper abdominal procedures are already performed by gynecological oncologists in large proportion of centers, without existence of well-established postgraduate training program.

• MeSH
• gynekologické chirurgické výkony statistika a číselné údaje   MeSH
• gynekologie výchova   statistika a číselné údaje   MeSH
• lékařská onkologie výchova   statistika a číselné údaje   MeSH
• lékařská praxe - způsoby provádění statistika a číselné údaje   MeSH
• lidé MeSH
• nádory vaječníků chirurgie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: A pineal cyst is a benign affection of a pineal gland on the borderline between a pathological lesion and a variant of normality. Clinical management of patients with a pineal cyst remains controversial, especially when patients present with non-specific symptoms. METHODS: An online questionnaire consisting of 13 questions was completed by 110 neurosurgeons worldwide. Responses were entered into a database and subsequently analysed. RESULTS: Based on data from the questionnaire, the main indication criteria for pineal cyst resection are hydrocephalus (90 % of the respondents), Parinaud's syndrome (80 %) and growth of the cyst (68 %). Only 15 % of the respondents occasionally operate on patients with non-specific symptoms. If surgery is indicated, improvement is expected in 88 % of the patients. The vast majority of the respondents favour a supracerebellar infratentorial approach to the pineal region. Most (78 %) of the respondents regarded the patient registry as a potentially useful instrument. CONCLUSIONS: This survey sheds light on the current practice of pineal cyst management across the world. Most of the respondents perform surgery on pineal cysts only if patients are presenting with symptoms attributable to a mass effect. Surgery for patients with non-specific complaints (headache, vertigo) is not widely accepted, although it may prove effective. A prospective patient registry might be useful in the decision-making process in the clinical management of pineal cysts.

• MeSH
• cysty centrálního nervového systému psychologie   chirurgie   MeSH
• dospělí MeSH
• epifýza mozková patologie   chirurgie   MeSH
• lékařská praxe - způsoby provádění * MeSH
• lidé MeSH
• management nemoci * MeSH
• neurochirurgické výkony metody   psychologie   MeSH
• neurochirurgové psychologie   MeSH
• průzkumy a dotazníky MeSH
• rozhodování MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Dotazníkové šetření v ordinacích ambulantních specialistů se zaměřilo na otázky týkající se diagnostiky a léčby srdečního selhání. Zvláštní pozornost byla věnována přítomnosti symptomů u pacientů, u kterých dosud nebyla stanovena diagnóza srdečního selhání. Dotazníkové šetření ukázalo rezervy v léčbě srdečního selhání. Dále ukázalo, že existuje významná skupina nemocných, kteří mají symptomy, ale nemají stanovenu diagnózu srdečního selhání, a to i přesto, že je u některých z nich přítomno zvýšení koncentrace NT-proBNP.

The survey from outpatients secondary care clinics was focused on questions related to diagnostics and treatment of heart failure. A special attention was paid to the presence of symptoms of patients not yet diagnosed with heart failure. The survey showed reserves in the heart failure treatment. It has been further shown, that the important proportion of patients have symptoms but are not properly diagnosed with heart failure, despite having elevated NT-proBNP levels.

• MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• srdeční selhání * diagnóza   terapie   MeSH
• Check Tag
• lidé MeSH

• MeSH
• biomedicínský výzkum MeSH
• hodnocení léčiv metody   MeSH
• organizace a řízení metody   MeSH
• výzkumní pracovníci MeSH