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6492. Falašové - věrní vyznavači judaismu
- Creator:
- Poláček, Zdeněk
- Format:
- Type:
- model:internalpart and TEXT
- Language:
- Czech
- Rights:
- http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public
6493. Falešné zlato
- Creator:
- Josef Brožek
- Publisher:
- Josef Brožek
- Format:
- print, text, regular print, and 130 s. ; 20 cm
- Type:
- model:monograph and TEXT
- Subject:
- Česká próza, 821.162.3-32, (0:82-32), 25, and 821.162.3-3
- Language:
- Czech
- Description:
- napsal Josef Brožek
- Rights:
- http://creativecommons.org/publicdomain/mark/1.0/ and policy:public
6494. Falk Wiesemann, "Kommt heraus und schaut". Jüdische und christliche Illustrationen zur Bibel in alter Zeit
- Creator:
- Pešek, Jiří
- Format:
- Type:
- model:internalpart and TEXT
- Language:
- Czech
- Rights:
- http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public
6495. Fallotova tetralógia v dospelosti
- Creator:
- Hučková, Naďa, Sekurisová, K., Ďuranová, Z., Zachar, Andrej, and Kokles, M.
- Format:
- print, text, and regular print
- Type:
- model:article, article, Text, abstrakt z konference, and TEXT
- Language:
- Czech and Slovak
- Description:
- N. Hučková, K. Sekurisová, Z. Ďuranová, A. Zachar, M. Kokles
- Rights:
- http://creativecommons.org/publicdomain/mark/1.0/ and policy:public
6496. Fallotova tetralogie dříve a dnes – editorial - komentář
- Creator:
- Popelová, Jana
- Format:
- print, text, and regular print
- Type:
- model:article, article, Text, úvodní články, práce podpořená grantem, komentáře, and TEXT
- Subject:
- lidé, Fallotova tetralogie--diagnóza--chirurgie, kardiochirurgické výkony--dějiny--metody, přežívající, pooperační komplikace, and insuficience plicnice--etiologie--chirurgie
- Language:
- Czech
- Description:
- Jana Rubáčková Popelová
- Rights:
- http://creativecommons.org/publicdomain/mark/1.0/ and policy:public
6497. Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136→Cys) gene variant
- Creator:
- Michal Vrablík, Aleš Hořínek, Richard Češka, Tomáš Štulc, and Tomáš Kvasnička
- Format:
- print, bez média, and svazek
- Type:
- article, články, model:article, and TEXT
- Subject:
- Fyziologie člověka a srovnávací fyziologie, fyziologie, physiology, apolipoprotein E, rare variants, familial dysbetalipoproteinemia, 14, and 612
- Language:
- English
- Description:
- Apolipoprotein E (apoE) is a polymorphic protein which occurs in three common isoforms and more than 25 rare variants. Some of the rare apoE variants have been implicated in a dominant mode of inheritance of familial dysbetalipoproteinemia (FD). We have identified three unrelated apoE 2*(Arg136®Cys) carriers with FD. This finding supports the notion that although apoE 2*(Arg136®Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers., M. Vrablík, A. Hořínek, R. Češka, T. Štulc, T. Kvasnička., and Obsahuje bibliografii
- Rights:
- http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public
6498. Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project
- Creator:
- Michal Vrablík, Martina Vaclová, Tichý, L., Vladimír Soška, Vladimír Bláha, Lenka Fajkusová, Richard Češka, Šatný, M., and Tomáš Freiberger
- Format:
- print, bez média, and svazek
- Type:
- article, články, journal articles, model:article, and TEXT
- Subject:
- Fyziologie člověka a srovnávací fyziologie, familiární hypercholesterolémie, familial hypercholesterolemia, LDL-cholesterol, cascade screening, MedPed, 14, and 612
- Language:
- English
- Description:
- Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder. It is characterized by a de crease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage. The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treat ment and prevent cardiov ascular events. Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1:250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next-generation sequencing. FH still remain undiagnosed even though the Czech Republic is on e of the most successful countries with respect to FH detection. The opportunities of international collaboration and experience sharing within international programs (e.g. EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the futur e and enable even more accessible and accurate genetic diagnostics., M. Vrablík, M. Vaclová, L. Tichý, V. Soška, V. Bláha, L. Fajkusová, R. Češka, M. Šatný, T. Freiberger., and Obsahuje bibliografii
- Rights:
- http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public
6499. Familial Mediterranean Fever
- Creator:
- Kucuk, Adem, Gezer, Ilknur Albayrak, Ucar, Ramazan, and Karahan, Ali Yavuz
- Format:
- print, text, and regular print
- Type:
- model:article, article, Text, časopisecké články, přehledy, and TEXT
- Subject:
- amyloidóza--etiologie, kolchicin--terapeutické užití, cytoskeletální proteiny--genetika, diferenciální diagnóza, familiární středozemská horečka--komplikace--diagnóza--farmakoterapie--genetika, genetická predispozice k nemoci, lidé, mutace, prognóza, and modulátory tubulinu--terapeutické užití
- Language:
- English
- Description:
- Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population. and A. Kucuk, I.A. Gezer, R. Ucar, A. Y. Karahan
- Rights:
- http://creativecommons.org/publicdomain/mark/1.0/ and policy:public
6500. Familiární amyloidová polyneuropatie – kazuistika
- Creator:
- Pika, Tomáš, Látalová, Pavla, Hůlková, Helena, Vlášková, Hana, Otruba, Pavel, Mejzlík, Vladimír, and Ščudla, Vlastimil
- Format:
- print, text, and regular print
- Type:
- model:article, article, Text, kazuistiky, práce podpořená grantem, and TEXT
- Subject:
- demyelinizační nemoci--diagnóza--farmakoterapie, amyloidová neuropatie--diagnóza--etiologie--terapie, diferenciální diagnóza, endoskopie trávicího systému--metody--využití, genetické nemoci vrozené--diagnóza--etiologie--farmakoterapie, benzoxazoly--aplikace a dávkování--škodlivé účinky--terapeutické užití, biopsie--metody--využití, amyloidóza familiární--diagnóza--etiologie--farmakoterapie, žaludeční sliznice--cytologie--enzymologie--imunologie, elektromyografie--metody--využití, transplantace jater--metody--využití, prealbumin--diagnostické užití--izolace a purifikace, výsledky a postupy - zhodnocení (zdravotní péče)--metody--využití, mužské pohlaví, mladý dospělý, lidé, statistika jako téma, mezioborová komunikace, familiární amyloidová polyneuropatie, transthyretin, and tafamidis
- Language:
- Czech and English
- Description:
- Předkládáme popis případu nemocného s familiární formou amyloidové polyneuropatie. Mladý nemocný s postupně progredujícími projevy léze periferních nervů byl zprvu diagnostikován a léčen pro chronickou zánětlivou demyelinizační polyneuropatii. Pro následné komplikace bylo provedeno endoskopické vyšetření zažívacího traktu s bioptickým průkazem amyloidových depozit. Následné komplexní vyšetření potvrdilo hereditární formu transtyretinové amyloidové polyneuropatie na podkladě raritní mutace v genu pro transtyretin na pozici Val50Ala. Anamnesticky, matka nemocného byla léčena pro amyloidózu s neuropatickými projevy. Léčba pacienta preparátem tafamidis meglumine vedla k zabránění další progrese onemocnění a následně byla provedena ortotopní transplantace jater. V současnosti dochází ke klinickému zlepšování stavu nemocného s postupnou regresí motorických a senzitivních neuropatických projevů., We present a case of a patient with familial amyloid polyneuropathy. A young patient with gradually progressing symptoms of peripheral neuropathy was initially diagnosed and treated for chronic inflammatory demyelinating polyneuropathy. Subsequent complications resulted in endoscopic examination of the digestive tract. Biopsy showed evidence of amyloid deposits. Subsequent comprehensive examination confirmed hereditary form of amyloid polyneuropathy on the basis of a rare mutation in the transthyretin gene in Val50Ala position. Family history revealed that the mother of the patient was treated for amyloidosis with neuropathic symptoms. Treatment with tafamidis meglumine prevented further disease progression, and was followed by orthotopic liver transplantation. At present, clinical condition of the patient gradually improves with regression of motor and sensory neuropathic symptoms. Key words: familial amyloid polyneuropathy – transthyretin – tafamidis meglumine The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers., and T. Pika, P. Látalová, H. Hůlková, H. Vlášková, P. Otruba, V. Mejzlík, V. Ščudla
- Rights:
- http://creativecommons.org/publicdomain/mark/1.0/ and policy:public