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Dokument shrnuje stanovisko expertního diskusního panelu I. odborné konference Point-of-Care ultrasonografie, která se konala dne 14. listopadu 2022 v Praze a na které došlo k založení Mezioborové pracovní skupiny pro doporučené postupy, vzdělávání a výzkum v oblasti Point-of-Care ultrasonografii (Czech POCUS group).
The document summarizes the statement of the expert discussion panel of the 1st Point- of-Care Ultrasonography, which took place on 14 November 2022 in Prague and which led to the foundation of the Czech Multidisciplinary Task Force Group for standards,education and research in Point-of-Care ultrasound (Czech POCUS group).
PURPOSE: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified. METHODS: The multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached. RESULTS: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others. CONCLUSION: Establishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH.
- MeSH
- genetická variace genetika MeSH
- genetické testování metody MeSH
- genom lidský * genetika MeSH
- genomika metody MeSH
- hyperlipoproteinemie typ II * genetika MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Etická komise ČMPS navrhla vodítka, reflektující psychologickou znaleckou praxi včetně posudků vznikajících na objednávku soukromých osob a předložila je v panelovou diskusi na Psychologických dnech v Olomouci dne 15. září 2022. Cílem panelové diskuse bylo prostřednictvím odborné veřejnosti návrh etických vodítek oponovat a zároveň diskusí o tomto materiálu zvědomit etická a odborná specifika psychologie v oblasti znalectví, posuzování a vydávání posudků a zpráv a zvýšit etickou citlivost v této oblasti. Zpráva informuje o diskutovaných tématech a přináší výstupy z panelové diskuse.
The Ethics Committee of the CMPS has proposed guidelines reflecting psychological forensic practice, including reports prepared on the order of private persons, and presented them in a panel discussion at the Psychological Days in Olomouc on 15 September 2022. The aim of the panel discussion was to oppose the draft ethical guidelines through the professional community and, at the same time, to raise awareness of the ethical and professional specifics of psychology in the field of the expert witness, assessment and issuance of opinions and reports and to increase ethical sensitivity in this area. The report presents the topics discussed and provides the outcomes of the panel discussion.
Cíl: Navzdory značným pokrokům s nedávno vyvinutými formami kombinované perorální antikoncepce (COC – combined oral contraceptive), které vedly ke sníženému výskytu nežádoucích příhod při plném zachování antikoncepční účinnosti, zájem o další inovace přetrvává. Materiály a metody: Nový typ COC kombinuje přirozený estrogen estetrol (E4) a gestagen drospirenon (DRSP). Evropský panel odborníků hodnotil farmakologické vlastnosti, účinnost, bezpečnost a snášenlivost této kombinace. Zjištění jsou prezentována formou přehledového článku. Výsledky: Kombinace 15 mg E4/3 mg DRSP v režimu 24+4 představuje účinnou antikoncepci s dobrou regulací cyklu, charakterizovanou pravidelným krvácením a minimálním neplánovaným krvácením, a stejně tak i dobrým bezpečnostním profilem. Spojován je s vysokou spokojeností uživatelek, dobrým zdravotním stavem a minimálními změnami tělesné hmotnosti. Účinky na endokrinní a metabolické parametry jsou omezeny a kombinace má též omezený vliv na jaterní funkce a metabolizmus lipidů a sacharidů. Na hemostatické parametry má menší vliv než porovnatelná léčiva s obsahem 20 μg etinylestradiolu (EE) /3 mg DRSP a 30 μg EE/150 μg levonorgestrelu. Závěr: Kombinace 15 mg E4/3 mg DRSP poskytuje bezpečnou a účinnou antikoncepci s vysokou mírou spokojenosti uživatelek a předvídatelným krvácením. Další výzkum se bude věnovat hodnocení dlouhodobé bezpečnosti COC.
Purpose: Despite considerable advances in recently developed combined oral contraceptives (COCs), resulting in lower rates of adverse events while maintaining contraceptive efficacy, there is interest in further innovation. Materials and Methods: Estetrol (E4), a native oestrogen, and progestin drospirenone (DRSP) were combined in a new COC. A European expert panel reviewed the pharmacology, efficacy, and safety and tolerability of this combination. Their findings are presented as a narrative review. Results: E4 15mg/DRSP 3 mg in a 24/4 regimen provided effective contraception with good cycle control, characterised by a predictable regular bleeding pattern and minimal unscheduled bleeding, together with a good safety profile. The combination was associated with high user satisfaction, wellbeing, and minimal changes in body weight. The effects on endocrine and metabolic parameters were limited, and the combination was found to have a limited impact on liver function and lipid and carbohydrate metabolism. Moreover, its effect on several haemostatic parameters was lower than that of comparators containing ethinyl oestradiol (EE) 20 mg/DRSP 3 mg and EE 30 mg/levonorgestrel 150 mg. Conclusion: E4 15 mg/DRSP 3 mg provides safe and effective contraception, with high user satisfaction and predictable bleeding. Further research will evaluate the long-term safety of the COC.
Non-Alcoholic Fatty Liver Disease (NAFLD) is a common condition affecting around 10-25% of the general adult population, 15% of children, and even > 50% of individuals who have type 2 diabetes mellitus. It is a major cause of liver-related morbidity, and cardiovascular (CV) mortality is a common cause of death. In addition to being the initial step of irreversible alterations of the liver parenchyma causing cirrhosis, about 1/6 of those who develop NASH are at risk also developing CV disease (CVD). More recently the acronym MAFLD (Metabolic Associated Fatty Liver Disease) has been preferred by many European and US specialists, providing a clearer message on the metabolic etiology of the disease. The suggestions for the management of NAFLD are like those recommended by guidelines for CVD prevention. In this context, the general approach is to prescribe physical activity and dietary changes the effect weight loss. Lifestyle change in the NAFLD patient has been supplemented in some by the use of nutraceuticals, but the evidence based for these remains uncertain. The aim of this Position Paper was to summarize the clinical evidence relating to the effect of nutraceuticals on NAFLD-related parameters. Our reading of the data is that whilst many nutraceuticals have been studied in relation to NAFLD, none have sufficient evidence to recommend their routine use; robust trials are required to appropriately address efficacy and safety.
- MeSH
- diabetes mellitus 2. typu * komplikace MeSH
- dítě MeSH
- dospělí MeSH
- jaterní cirhóza komplikace MeSH
- kardiovaskulární nemoci * prevence a kontrola MeSH
- lidé MeSH
- lipidy terapeutické užití MeSH
- nealkoholová steatóza jater * farmakoterapie MeSH
- potravní doplňky MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Atherosclerotic cardiovascular disease (ASCVD) and consequent acute coronary syndromes (ACS) are substantial contributors to morbidity and mortality across Europe. Fortunately, as much as two thirds of this disease's burden is modifiable, in particular by lipid-lowering therapy (LLT). Current guidelines are based on the sound premise that, with respect to low-density lipoprotein cholesterol (LDL-C), "lower is better for longer", and recent data have strongly emphasised the need for also "the earlier the better". In addition to statins, which have been available for several decades, ezetimibe, bempedoic acid (also as fixed dose combinations), and modulators of proprotein convertase subtilisin/kexin type 9 (PCSK9 inhibitors and inclisiran) are additionally very effective approaches to LLT, especially for those at very high and extremely high cardiovascular risk. In real life, however, clinical practice goals are still not met in a substantial proportion of patients (even in 70%). However, with the options we have available, we should render lipid disorders a rare disease. In April 2021, the International Lipid Expert Panel (ILEP) published its first position paper on the optimal use of LLT in post-ACS patients, which complemented the existing guidelines on the management of lipids in patients following ACS, which defined a group of "extremely high-risk" individuals and outlined scenarios where upfront combination therapy should be considered to improve access and adherence to LLT and, consequently, the therapy's effectiveness. These updated recommendations build on the previous work, considering developments in the evidential underpinning of combination LLT, ongoing education on the role of lipid disorder therapy, and changes in the availability of lipid-lowering drugs. Our aim is to provide a guide to address this unmet clinical need, to provide clear practical advice, whilst acknowledging the need for patient-centred care, and accounting for often large differences in the availability of LLTs between countries.
- MeSH
- akutní koronární syndrom * krev farmakoterapie etiologie MeSH
- anticholesteremika terapeutické užití MeSH
- ateroskleróza * krev komplikace farmakoterapie MeSH
- hypolipidemika * terapeutické užití MeSH
- LDL-cholesterol krev MeSH
- lidé MeSH
- přehledová literatura jako téma MeSH
- statiny terapeutické užití MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- směrnice pro lékařskou praxi MeSH
Levosimendan is a positive inotrope with vasodilating properties (inodilator) indicated for decompensated heart failure (HF) patients with low cardiac output. Accumulated evidence supports several pleiotropic effects of levosimendan beyond inotropy, the heart and decompensated HF. Those effects are not readily explained by cardiac function enhancement and seem to be related to additional properties of the drug such as anti-inflammatory, anti-oxidative and anti-apoptotic ones. Mechanistic and proof-of-concept studies are still required to clarify the underlying mechanisms involved, while properly designed clinical trials are warranted to translate preclinical or early-phase clinical data into more robust clinical evidence. The present position paper, derived by a panel of 35 experts in the field of cardiology, cardiac anesthesiology, intensive care medicine, cardiac physiology, and cardiovascular pharmacology from 22 European countries, compiles the existing evidence on the pleiotropic effects of levosimendan, identifies potential novel areas of clinical application and defines the corresponding gaps in evidence and the required research efforts to address those gaps.
- MeSH
- akutní nemoc MeSH
- antiarytmika farmakologie terapeutické užití MeSH
- hydrazony farmakologie terapeutické užití MeSH
- kardiotonika farmakologie terapeutické užití MeSH
- klinické zkoušky jako téma metody normy MeSH
- lidé MeSH
- pyridaziny farmakologie terapeutické užití MeSH
- srdce účinky léků fyziologie MeSH
- srdeční selhání farmakoterapie patofyziologie MeSH
- svalová kontrakce účinky léků fyziologie MeSH
- výsledek terapie MeSH
- znalecký posudek metody normy MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Sarcopenic obesity (SO) is defined as the combination of excess fat mass (obesity) and low skeletal muscle mass and function (sarcopenia). The identification and classification of factors related to SO would favor better prevention and diagnosis. The present article aimed to (i) define a list of factors related with SO based on literature analysis, (ii) identify clinical conditions linked with SO development from literature search and (iii) evaluate their relevance and the potential research gaps by consulting an expert panel. From 4746 articles screened, 240 articles were selected for extraction of the factors associated with SO. Factors were classified according to their frequency in the literature. Clinical conditions were also recorded. Then, they were evaluated by a panel of expert for evaluation of their relevance in SO development. Experts also suggested additional factors. Thirty-nine unique factors were extracted from the papers and additional eleven factors suggested by a panel of experts in the SO field. The frequency in the literature showed insulin resistance, dyslipidemia, lack of exercise training, inflammation and hypertension as the most frequent factors associated with SO whereas experts ranked low spontaneous physical activity, protein and energy intakes, low exercise training and aging as the most important. Although literature and expert panel presented some differences, this first list of associated factors could help to identify patients at risk of SO. Further work is needed to confirm the contribution of factors associated with SO among the population overtime or in randomized controlled trials to demonstrate causality.
- MeSH
- cvičení MeSH
- hlasování MeSH
- inzulinová rezistence MeSH
- kosterní svaly patofyziologie MeSH
- lidé MeSH
- obezita * komplikace MeSH
- rizikové faktory MeSH
- sarkopenie * MeSH
- stárnutí fyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
The European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity (EASO) launched the Sarcopenic Obesity Global Leadership Initiative (SOGLI) to reach expert consensus on a definition and diagnostic criteria for Sarcopenic Obesity (SO). The present paper describes the proceeding of the Sarcopenic Obesity Global Leadership Initiative (SOGLI) meeting that was held on November 25th and 26th, 2022 in Rome, Italy. This consortium involved the participation of 50 researchers from different geographic regions and countries. The document outlines an agenda advocated by the SOGLI expert panel regarding the pathophysiology, screening, diagnosis, staging and treatment of SO that needs to be prioritized for future research in the field.
Pediatrics, ISSN 0031-4005 December 2011, volume 128, supplement 5
A4, 213-256 stran : ilustrace, tabulky ; 28 cm
- MeSH
- chování snižující riziko MeSH
- dítě MeSH
- epidemiologické faktory MeSH
- kardiovaskulární nemoci prevence a kontrola MeSH
- mladiství MeSH
- obezita dětí a dospívajících MeSH
- poruchy metabolismu lipidů MeSH
- Check Tag
- dítě MeSH
- mladiství MeSH
- Publikační typ
- přehledy MeSH
- Konspekt
- Pediatrie
- NLK Obory
- pediatrie
- kardiologie
- angiologie
