• MeSH
• Interleukin 1 Receptor Antagonist Protein administration & dosage   therapeutic use   MeSH
• Anti-Inflammatory Agents, Non-Steroidal administration & dosage   therapeutic use   MeSH
• Aspirin administration & dosage   therapeutic use   MeSH
• Adrenal Cortex Hormones administration & dosage   therapeutic use   MeSH
• Colchicine administration & dosage   therapeutic use   MeSH
• Pericarditis, Constrictive diagnosis   therapy   MeSH
• Humans MeSH
• Pericardial Effusion diagnosis   therapy   MeSH
• Pericarditis * diagnosis   etiology   complications   therapy   MeSH
• Cardiac Tamponade diagnosis   complications   therapy   MeSH
• Check Tag
• Humans MeSH

• Publication type
• Meeting Abstract MeSH

The production of doubled haploid (DH) barley plants through anther culture is a very useful yet simple in vitro technique. DH plants derive from divisions of haploid microspores that have undergone a developmental switch under the appropriate conditions. The successive divisions lead to the formation of an embryo or callus rather than the formation of mature pollen grains. Plants that regenerate from these embryos are often either haploid, in which case their chromosome set can be doubled by treatment with colchicine, or spontaneous double haploids. The efficiency of DH plant production is highly variable depending on the genotype of the source material. Despite this limitation, DH plants have been widely used in breeding and research programs. Compared to conventional approaches, breeding strategies that makes use of DH plants achieve a homozygous state, allowing transgene or mutation stabilization in the genome, within a considerably shorter time, thus accelerating workflow or reducing work volume.

• MeSH
• Staining and Labeling MeSH
• DNA, Plant genetics   MeSH
• Haploidy MeSH
• Hordeum growth & development   MeSH
• Culture Media MeSH
• Flowers growth & development   MeSH
• Pollen growth & development   MeSH
• Regeneration MeSH
• Plant Somatic Embryogenesis Techniques MeSH
• Sterilization MeSH
• Tissue Culture Techniques methods   MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

OBJECTIVES: To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs). METHODS: Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases. RESULTS: This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%). CONCLUSION: This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.

• MeSH
• Interleukin 1 Receptor Antagonist Protein therapeutic use   MeSH
• Antirheumatic Agents therapeutic use   MeSH
• Chronic Disease MeSH
• Hereditary Autoinflammatory Diseases drug therapy   genetics   pathology   MeSH
• Child MeSH
• Adult MeSH
• Genetic Variation genetics   MeSH
• Adrenal Cortex Hormones therapeutic use   MeSH
• Colchicine therapeutic use   MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Child, Preschool MeSH
• Registries MeSH
• Retrospective Studies MeSH
• Pedigree MeSH
• Age of Onset MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

Syndrom Schnitzlerové - stanovením této diagnózy byla přijata Štrasburská kritéria (neinfekční horečka, chronická kopřivka, změny kostní struktury, leukocytóza a zvýšené hodnoty zánětlivých markerů (CRP) a přítomnost monoklonálního imunoglobulinu většinou typu IgM, zcela výjimečně IgG. Léčbou volby pro tuto nemoc je blokáda účinků interleukinu-1. V praxi je nejčastěji využíván antagonista receptoru pro interleukin-1, anakinra. V současnosti se objevují zprávy i o použití dalších léků blokujících účinek interleukinu-1, canakinumabu a rilonaceptu. Diagnóza syndromu Schnitzlerové byla stanovena u 5 mužů, medián věku byl 53 (42 - 60) let. Všichni jsou léčeni preparátem anakinra, první z nich již více než 10 let. Medián sledování na léčbě anakinrou je 56 (19 - 122) měsíců. U všech nemocných jsme začali s aplikací anakinry v dávce 100 mg 1x denně. Při dávkování 100 mg 1x denně vymizely kompletně všechny příznaky u 4 nemocných, pouze u jednoho nemocného došlo k ústupu příznaků asi o 75 %, nikoliv však k úplnému vymizení. U jednoho ze 4 pacientů, u nichž příznaky při dávkování 1x denně zcela vymizely, se po roce léčby ukázalo dostačující podávat anakinru v 48hodinových intervalech. Delší prodloužení intervalu mezi aplikacemi však netoleruje. V průběhu léčby jsme nezaznamenali žádné nežádoucí účinky anakinry a nedochází k poklesu účinnosti léčby. V textu je dále rozvedena diferenciální diagnostika syndromu Schnitzlerové.

Schnitzler´s syndrome is an acquired auto-inflammatory disease of as yet unclear origin. The Strasbourg criteria (non-infectious fever, chronic urticaria, changes in bone structure, leucocytosis, elevated inflammatory markers - CRP and the presence of monoclonal immunoglobulin mostly IgM, very rarely of IgG) were adopted to establish this diagnosis. First-line therapy for this disease involves blocking interleukin-1 effects. In practice, the interleukin-1 receptor antagonist, anakinra, is most commonly used. Currently, there have also been reports regarding the use of other interleukin-1 blockers, namely canakinumab and rilonacept. We are currently treating 5 men, median age at diagnosis 53 (42-60) years, with anakinra. Median duration of treatment is 56 (19-122) months. In all the patients, we began administration of anakinra at a dose of 100 mg once a day. Administration of 100 mg once a day, led to the complete resolution of symptoms in 4 patients, and a reduction by about 75 % in 1 patient. This patient required an increased dose of 2 ampoules per day when his symptoms intensified. After one year of treatment, one of the four patients whose symptoms had completely disappeared using the 100 mg daily dose required this same dose at an interval 48-hour hours. However, this patient does not tolerate further extension of the intervals between doses. We have not recorded any adverse effects of anakinra in the course of the treatment and no decline in the efficiency of anakinra has been observed: it acts as effectively now as it did at the beginning of treatment. The text discusses the differential diagnosis of Schnitzler´s syndrome.

• MeSH
• Interleukin 1 Receptor Antagonist Protein administration & dosage   therapeutic use   MeSH
• Histamine Antagonists therapeutic use   MeSH
• Antirheumatic Agents MeSH
• Gout Suppressants MeSH
• Arthralgia MeSH
• Hereditary Autoinflammatory Diseases pathology   MeSH
• Diagnosis, Differential MeSH
• Glucocorticoids MeSH
• Fever of Unknown Origin MeSH
• Interleukin-1 blood   MeSH
• Colchicine administration & dosage   therapeutic use   MeSH
• Bone Marrow anatomy & histology   pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Paraproteinemias MeSH
• Prednisone administration & dosage   therapeutic use   MeSH
• Pruritus MeSH
• Radionuclide Imaging MeSH
• Aged MeSH
• Still's Disease, Adult-Onset pathology   MeSH
• Schnitzler Syndrome * diagnosis   drug therapy   pathology   MeSH
• Urticaria diagnosis   drug therapy   MeSH
• Waldenstrom Macroglobulinemia MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Publication type
• Case Reports MeSH
• Overall MeSH

The biomass productivity of the energy willow Salix viminalis as a short-rotation woody crop depends on organ structure and functions that are under the control of genome size. Colchicine treatment of axillary buds resulted in a set of autotetraploid S. viminalis var. Energo genotypes (polyploid Energo [PP-E]; 2n = 4x = 76) with variation in the green pixel-based shoot surface area. In cases where increased shoot biomass was observed, it was primarily derived from larger leaf size and wider stem diameter. Autotetraploidy slowed primary growth and increased shoot diameter (a parameter of secondary growth). The duplicated genome size enlarged bark and wood layers in twigs sampled in the field. The PP-E plants developed wider leaves with thicker midrib and enlarged palisade parenchyma cells. Autotetraploid leaves contained significantly increased amounts of active gibberellins, cytokinins, salicylic acid, and jasmonate compared with diploid individuals. Greater net photosynthetic CO2 uptake was detected in leaves of PP-E plants with increased chlorophyll and carotenoid contents. Improved photosynthetic functions in tetraploids were also shown by more efficient electron transport rates of photosystems I and II. Autotetraploidization increased the biomass of the root system of PP-E plants relative to diploids. Sections of tetraploid roots showed thickening with enlarged cortex cells. Elevated amounts of indole acetic acid, active cytokinins, active gibberellin, and salicylic acid were detected in the root tips of these plants. The presented variation in traits of tetraploid willow genotypes provides a basis to use autopolyploidization as a chromosome engineering technique to alter the organ development of energy plants in order to improve biomass productivity.

• MeSH
• Biomass MeSH
• Chlorophyll metabolism   MeSH
• Chromosomes, Plant genetics   MeSH
• Diploidy MeSH
• Wood genetics   physiology   MeSH
• Chromosome Duplication MeSH
• Phenotype MeSH
• Photosynthesis genetics   physiology   MeSH
• Genome, Plant genetics   MeSH
• Genotype MeSH
• Carotenoids metabolism   MeSH
• Microscopy, Confocal MeSH
• Plant Roots genetics   physiology   MeSH
• Plant Bark genetics   physiology   MeSH
• Plant Leaves genetics   physiology   MeSH
• Plant Growth Regulators metabolism   MeSH
• Salix genetics   physiology   MeSH
• Plant Stems genetics   physiology   MeSH
• Tetraploidy * MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Dna v širším slova smyslu představuje heterogenní skupinu metabolických onemocnění, pro kterou je charakteristická tvorba a ukládání krystalů natrium urátu v různých tkáních. Jako hyperurikemii označujeme patologické zvýšení sérové koncentrace kyseliny močové. Dna postihuje přibližně 1–2 % dospělé populace vyspělých zemí a její prevalence v posledních desetiletích narůstá. I přes znalost patogeneze a klinického obrazu onemocnění nebývá často dna diagnostikována správně a včas, léčba onemocnění není správně vedena, což může vyústit v poškození struktury kloubů vedoucí k poklesu fyzických schopností a ke zhoršení kvality života nemocných. Hlavním nezávislým rizikovým faktorem vývoje dny je hyperurikemie. Časnou manifestací dny může být akutní dnavý záchvat. Pokud dojde z důvodu depozice krystalů natrium urátu k destrukci struktur pohybového aparátu, označujeme tento stav jako chronickou tofózní dnu. Nezbytnou podmínkou pro úspěšnou léčbu dny je snížení sérové koncentrace kyseliny močové pod hodnotu 360 μmol/l a její dlouhodobé udržení, což umožní rozpuštění urátových usazenin v tkáních a zabrání jejich tvorbě. Článek se zabývá současnými možnostmi léčby jednotlivých stadií dny: léčbou asymptomatické hyperurikemie, akutního dnavého záchvatu, léčbou v interkritickém období a léčbou chronické tofózní dny. Nezbytnou součástí léčby symptomatické hyperurikemie je i profylaktická léčba dnavých záchvatů. Zmíněny jsou rovněž nové možnosti léčby hyperurikemie a akutního dnavého záchvatu pomocí pegylované urikázy a inibitoru IL-1β canakinumabu. Text vychází z aktuálních národních a mezinárodních doporučení k léčbě hyperurikemie a dny.

Gout is a heterogeneous group of metabolic diseases which is characterized by the formation and deposition of sodium urate crystals in various tissues. Hyperuricemia is a pathological increase in serum uric acid concentration. Gout aff ects approximately 1–2% of adults in developed countries, and its prevalence is increasing in recent decades. Despite knowledge of the pathogenesis and clinical manifestation of the disease, gout is often not diagnosed correctly and early, treatment is not well managed, which can result in damage of the joint structure, leading to decline in physical abilities and deterioration in the quality of life of patients. Hyperuricemia is a major independent risk factor for development of gout. Acute gout attack may be an early manifestation of gout. Chronic tophaceous gout indicates the state when the structures of the musculoskeletal system are destructed by the deposition of sodium urate crystals. The reduction and long-term maintenance of serum uric acid concentrations below 360 μmol/l is a necessary prerequisite of successful treatment of gout which allows the dissolution of urate deposits in tissues and prevents their formation. The article deals with current treatment options at each stage of the gout, treatment of asymptomatic hyperuricemia, acute gout attack, intercritical period, and chronic tophaceous gout. Prophylactic treatment of gout fl ares is also an essential part of the treatment of symptomatic hyperuricemia. New treatment options of hyperuricemia and acute gout attack with pegylated uricase and IL-1β inhibitor canakinumab are also mentioned. The text is based on current national and international guidelines for the treatment of hyperuricemia and gout.

• MeSH
• Acute Disease therapy   MeSH
• Allopurinol administration & dosage   pharmacokinetics   pharmacology   contraindications   adverse effects   therapeutic use   MeSH
• Anti-Inflammatory Agents, Non-Steroidal administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Arthritis, Gouty * drug therapy   MeSH
• Adult MeSH
• Glucocorticoids administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Drug Evaluation * MeSH
• Hyperuricemia * drug therapy   pathology   MeSH
• Incidence MeSH
• Cyclooxygenase 2 Inhibitors administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Interleukin-1 antagonists & inhibitors   administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Colchicine administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Uric Acid blood   metabolism   MeSH
• Humans MeSH
• Obesity MeSH
• Prospective Studies MeSH
• Aged MeSH
• Sex Factors MeSH
• Practice Guidelines as Topic MeSH
• Uricosuric Agents administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Age Factors MeSH
• Xanthine Oxidase antagonists & inhibitors   administration & dosage   pharmacokinetics   pharmacology   adverse effects   therapeutic use   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH

Autoinflamatorní onemocnění a periodické horečky vznikají na podkladě poruchy regulace zánětu. V patogenezi hraje důležitou roli porucha funkce inflamazomu a s ní spojené změny sekrece interleukinu-1 (IL-1). Krom ě IL-1 se v některých p ř ípadech uplatňuje také porucha sekrece tumor nekrotizujícího faktoru- α (TNF α ) a interleukinu-6 (IL-6). Příč ina některých onemocnění nebyla dosud objasněna, mohou se ale překrývat s autoimunitními chorobami. Kromě klasické léčby nesteroidními antirevmatiky, kolchicinem a kortikoidy je stále více využívána biologická léčba, která má jednoznačně nejvyšší efektivitu ze všech dostupných terapeutických možností. Nejúč inně jší se jeví blokáda IL-1, v některých př ípadech i anti-TNF α a anti-IL-6 léčba.

Autoinflammatory diseases and periodic fevers arise due to dysregulation of inflammation. Defective function of inflammasome an d the associated alteration in interleukin-1 (IL-1) secretion plays an important role in the pathogenesis. Apart from IL-1, defects in secretion of tumor necrosis factor- α (TNF α ) and interleukin-6 (IL-6) have been also found to be associated with these diseases. The cause of some of these diseases has n ot been elucidated yet but they may overlap with autoimmune diseases. Apart from the classical treatment with nonsteroid antiinfla mmatory drugs (NSAIDs), colchicine and corticosteroids, there is a trend to shift to a biological treatment due to its outstanding effectivit y, when compared to traditional therapeutical options. The most effective biological therapy is the blockade of IL-1, but also blockade of IL-6 and TNF α .

• Keywords
• autoinflamatorní nemoci a periodické horečky,
• MeSH
• Amyloidosis complications   metabolism   prevention & control   MeSH
• Anti-Inflammatory Agents, Non-Steroidal administration & dosage   adverse effects   therapeutic use   MeSH
• Biological Therapy * methods   trends   utilization   MeSH
• Hereditary Autoinflammatory Diseases * diagnosis   etiology   therapy   MeSH
• Diagnostic Techniques and Procedures MeSH
• Familial Mediterranean Fever diagnosis   etiology   drug therapy   MeSH
• Adrenal Cortex Hormones administration & dosage   adverse effects   therapeutic use   MeSH
• Interleukin-1 immunology   metabolism   deficiency   MeSH
• Interleukin-6 immunology   metabolism   deficiency   MeSH
• Clinical Laboratory Techniques methods   utilization   MeSH
• Disease Attributes * MeSH
• Colchicine administration & dosage   adverse effects   therapeutic use   MeSH
• Humans MeSH
• Antibodies, Monoclonal administration & dosage   adverse effects   therapeutic use   MeSH
• Receptors, Tumor Necrosis Factor immunology   isolation & purification   MeSH
• Tumor Necrosis Factor-alpha immunology   metabolism   deficiency   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Colchicine (Col) is a microtubule depolymerizing drug, widely used for treatment of familial Mediterranean fever (FMF). Mechanisms by which Col exerts its beneficial effects are not yet completely understood, especially with respect to gene expression in polymorphonuclear neutrophils (PMNs), the main effector cells in acute inflammatory attacks of FMF. This study was, therefore, designed to elucidate possible modulatory effect of Col on expression of inflammation-related genes in circulating PMNs from 16 FMF patients in the remission period and 11 healthy subjects. In vitro effect of Col exposure (1 microg/ml) on expression of 8 selected genes was examined using quantitative real-time RT-PCR. Col up-regulated expression of IL-8 and IL-1beta genes in FMF (13-fold and 2.7-fold, p less than 0.05, respectively) and healthy (3-fold and 6.5-fold, p less than 0.05, respectively) PMNs, and down-regulated caspase-1 in FMF neutrophils (3-fold, p less than 0.05). In FMF PMNs treated with Col mRNAs of IL-8 (51-fold, p less than 0.01) and c-FOS (7-fold, p less than 0.05) transcripts were elevated compared to those from healthy subjects. By contrast, caspase-1 mRNA was decreased in FMF neutrophils compared to healthy cells (1.6-fold, p less than 0.05). Hereby, we provide evidence that, at least in vitro, Col displays pro-inflammatory potential in respect to IL-1beta and IL-8 genes. At the same time, our findings implicate suppression of caspase-1 expression by Col as a potential mechanism for its effects in FMF treatment.

• MeSH
• Adult MeSH
• Familial Mediterranean Fever drug therapy   immunology   MeSH
• Interleukin-1beta genetics   MeSH
• Interleukin-8 genetics   MeSH
• Caspase 1 genetics   MeSH
• Colchicine pharmacology   therapeutic use   MeSH
• Humans MeSH
• Adolescent MeSH
• Neutrophils drug effects   metabolism   MeSH
• Gene Expression Regulation drug effects   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

• Keywords
• Artrodar, Muscoril,
• MeSH
• Anthraquinones administration & dosage   pharmacology   adverse effects   therapeutic use   MeSH
• Adult MeSH
• Pharmacovigilance * MeSH
• Colchicine analogs & derivatives   administration & dosage   pharmacology   adverse effects   therapeutic use   MeSH
• Drug and Narcotic Control methods   trends   MeSH
• Pharmaceutical Preparations * classification   contraindications   MeSH
• Humans MeSH
• Drug-Related Side Effects and Adverse Reactions MeSH
• Safety-Based Drug Withdrawals * MeSH
• Adverse Drug Reaction Reporting Systems MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Female MeSH