Expert panel
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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
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
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
Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
- MeSH
- apolipoproteiny B krev genetika MeSH
- genetické poradenství metody normy MeSH
- genetické testování metody normy MeSH
- hyperlipoproteinemie typ II krev diagnóza genetika MeSH
- LDL-receptory krev genetika MeSH
- lidé MeSH
- proproteinkonvertasa subtilisin/kexin typu 9 krev genetika MeSH
- znalecký posudek metody normy MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
U onemocnění RS má MR nezastupitelnou roli. Pro maximální využití potenciálu této metody, tedy pro časnou a přesnou diagnostiku s určením prognostických markerů, časný signál neefektivity terapie či bezpečnostního problému, ale i pro dostupnost adekvátní péče pro všechny pacienty, je klíčová unifikace managementu MR napříč jednotlivými pracovišti. Zároveň je podstatná komunikace mezi radiologem a neurologem a s tím související standardizace jak žádanky, tak popisu MR. Jednotná forma dat z MR by vedle zkvalitnění péče o individuálního pacienta vedla i k možnosti sběru dat na národní úrovni. Tím by umožnila získat strukturované informace pro výzkum a také využití dat z MR při jednáních s plátci zdravotní péče. Za tímto účelem vznikl pod záštitou Sekce klinické neuroimunologie a likvorologie České neurologické společnosti tento konsenzus českého expertního radiologicko-neurologického panelu vycházející z mezinárodních doporučení Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS). Přichází s návrhem doporučení základního a rozšířeného diagnostického, monitoračního a bezpečnostního protokolu MR, stanovuje frekvenci jednotlivých vyšetření, nutné informace na žádance na MR a představuje normovaný popis diagnostické i monitorační MR u pacientů s podezřením či stanovenou diagnózou RS.
In MS, MRI has an irreplaceable role. The unification of MRI management across different institutions is crucial for maximal use of the potential of this method, i.e., for early and accurate diagnosis with the determination of prognostic markers, early signal of ineffectiveness of therapy or safety problem, but also for availability of adequate care for all patients. At the same time, communication between the radiologist and neurologist and the associated standardization of both the referral form and MRI description are essential. In addition to improving the quality of care for the individual patient, a uniform MRI data format would also lead to the possibility of national data collection. This would allow for structured information for research as well as the use of MRI data in negotiations with healthcare providers. For this purpose under the patronage of the Section of Clinical Neuroimmunology and Liquorology of the Czech Neurological Society, this consensus of the Czech Expert Radiology-Neurology Panel is published based on the international Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) recommendations. It proposes recommendations for a basic and extended diagnostic, monitoring and safety MRI protocol, specifies the frequency of individual examinations, the necessary information on the MRI referral form and presents a standardized description of diagnostic and monitoring MRI in patients with suspected or confirmed diagnosis of MS.
- Klíčová slova
- diagnostická kritéria, žádanka, diagnostický protokol, monitorační protokol,
- MeSH
- klinické protokoly MeSH
- lidé MeSH
- magnetická rezonanční tomografie * normy MeSH
- roztroušená skleróza * diagnostické zobrazování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- směrnice pro lékařskou praxi MeSH
[1st ed.] XXVIII, 67 s. : tab. ; 22 cm
- MeSH
- komplikace těhotenství MeSH
- nemoci novorozenců MeSH
- nemoci plodu epidemiologie MeSH
- Geografické názvy
- Austrálie MeSH
- Konspekt
- Pediatrie
- NLK Obory
- perinatologie a neonatologie
American journal of medicine, ISSN 0002-9343 vol. 119, suppl. 6A, June 2006
74 s. : il., tab. ; 28 cm
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).
