Východiska: Přežití pacientů s neuroendokrinními nádory se výrazně zlepšilo s použitím moderní onkologické léčby. Asociovaný karcinoidový syndrom může být časně diagnostikován, přesto se stále můžeme setkat s jeho kardiální manifestací, zvláště pak u jedinců s přetrvávajícími vysokými hladinami vazoaktivních mediátorů. Léčebné možnosti u plně vyjádřeného kardiálního postižení bývaly limitovány na chirurgickou náhradu chlopní, která není vždy proveditelná. Transkatetrové chlopenní intervence se proto stávají zajímavou alternativou k operačním metodám. Případ: Prezentujeme případ 50leté pacientky s karcinoidovým syndromem a postižením pravostranných srdečních chlopní. Během evaluace neuroendokrinního nádoru byla diagnostikována středně těžká pulmonální stenóza a těžká trikuspidální regurgitace. Detailně je popsáno vzácně se vyskytující chlopenní postižení a zdůrazněna nutnost mezioborové spolupráce při diagnostice a léčbě neuroendokrinních tumorů s produkcí vazoaktivních substancí. Závěr: U pacientky byla vyjádřena velmi vzácná kardiální manifestace karcinoidového syndromu. Ačkoliv léčba byla vedena v souladu s platnými doporučeními a s ohledem na aktuální klinický stav, rychlá progrese metastatického onemocnění nakonec znemožnila zvažovanou invazivní chlopenní intervenci.
Background: The survival of patients with neuroendocrine tumors has substantially improved with modern treatment options. Although the associated carcinoid syndrome can be diagnosed early and controlled effectively, cardiologists still encounter patients with cardiac manifestations, particularly among individuals with persistently high levels of vasoactive mediators. Treatment options have been limited to surgical valve replacement in fully manifested disease. Since surgery is not always feasible, transcatheter valve implantation is becoming an interesting alternative. Case: A case of a 50-year-old woman with carcinoid syndrome and right-sided valvular heart disease is presented. Moderate pulmonary valve stenosis and severe tricuspid valve regurgitation were diagnosed during the evaluation and treatment of neuroendocrine tumor. The possibility of rare valve involvement and the need for interdisciplinary cooperation in the diagnosis, monitoring and treatment of patients with neuroendocrine tumors producing vasoactive substances must be emphasized. Conclusion: The patient had a typically presenting carcinoid syndrome with a rare cardiac manifestation. Although monitoring and treatment were carried out in accordance with recommendations and appropriate to the clinical condition, rapid progression of the metastatic disease ultimately precluded invasive cardiac intervention.
- MeSH
- Biopsy MeSH
- Echocardiography MeSH
- Fatal Outcome MeSH
- Carcinoid Heart Disease surgery pathology therapy MeSH
- Middle Aged MeSH
- Humans MeSH
- Malignant Carcinoid Syndrome * surgery pathology therapy MeSH
- Liver Neoplasms diagnostic imaging pathology secondary MeSH
- Neuroendocrine Tumors surgery pathology therapy MeSH
- Tomography, X-Ray Computed MeSH
- Disease Progression MeSH
- Pulmonary Valve Stenosis * diagnostic imaging etiology pathology MeSH
- Tricuspid Valve Insufficiency diagnostic imaging etiology pathology MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Amyotrophic Lateral Sclerosis * etiology complications MeSH
- Humans MeSH
- Parkinsonian Disorders * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Comment MeSH
Daniel Carleton Gajdusek by se právě dožil sta let. Potomek přistěhovalců (otec Slovák, matka Maďarka) v první generaci se narodil v New Yorku a vystudoval medicínu na prestižních vysokých školách, stejně tak dosáhnul postgraduálního doktorátu. Po armádní službě pracoval v Austrálii, kde se dozvěděl o existenci zvláštního fatálního neurologického onemocnění na ostrově Nová Guinea. Uskutečnil tam bez váhání výpravu (doprovázen místním úředním lékařem Vincentem Zigasem), během které popsal kuru; studiu této nemoci potom věnoval řadu let. Podařilo se mu prokázat její infekční původ transferem na primáty, jako první na šimpanze. Původce nemoci byl objeven a pojmenován prion až Stanleyem Prusinerem, pětadvacet let po Gajdusekově objevu. Gajdusek i Prusiner obdrželi za objevy spojené s prionovými onemocněními Nobelovu cenu za fyziologii a lékařství, a to v letech 1976 a 1997. Gajdusek se později věnoval i studiu endemického onemocnění manifestujícího se amyotrofickou laterální sklerózou a parkinsonismem s demencí v jižní části východní Nové Guiney. Doma, ve Spojených státech, pracoval v NINCDS v Bethesdě a přijímal stážisty z celého světa. Ve věku 75 let byl obviněn z pohlavního zneužívání tří nezletilých mladíků, původně dětí, které adoptoval a přivezl z Tichomoří do USA, aby nabyly řádného vzdělání; celkem těchto dětí adoptoval 55. Byl odsouzen k osmnácti měsícům vězení; po propuštění odcestoval do Evropy, kde strávil zbytek života, zemřel ve věku 85 let v Norsku.
Daniel Carleton Gajdusek would turn 100 years old this year. A first-generation descendant of immigrants (father Slovak, mother Hungarian), Gajdusek was born in New York and studied medicine at prestigious universities, and earned a postgraduate degree as well. After serving in the military, he worked in Australia where he learned about the existence of a strange, fatal neurological disease in New Guinea. Without hesitation, he undertook an expedition there (accompanied by the district medical officer Vincent Zigas) during which he described kuru; he then devoted many years to the study of this disease. He managed to demonstrate its infectious origin by transfer to primates, initially to chimpanzees. The disease's causative agent was discovered and named prion by Stanley Prusiner, only twenty-five years after Gajdusek's discovery. Gajdusek and Prusiner were awarded the Nobel Prize in Physiology or Medicine for their discoveries associated with prion diseases in the years 1976 and 1997, respectively. Later on, Gajdusek studied an endemic disease manifested by amyotrophic lateral sclerosis and parkinsonism with dementia in the southern part of eastern New Guinea. At home, in the United States, he worked at the NINCDS in Bethesda and accepted interns from all over the world. When he was 75 years old, he was accused of molesting three minor boys, originally children he had adopted and brought with him from the Pacific to the United States to obtain proper education; a total of 55 children had been adopted by him. He was sentenced to eighteen months in prison; after his release, he left for Europe where he spent the rest of his life, dying at the age of 85 years in Norway.
The term 'endemic parkinsonism' refers to diseases that manifest with a dominant parkinsonian syndrome, which can be typical or atypical, and are present only in a particular geographically defined location or population. Ten phenotypes of endemic parkinsonism are currently known: three in the Western Pacific region; two in the Asian-Oceanic region; one in the Caribbean islands of Guadeloupe and Martinique; and four in Europe. Some of these disease entities seem to be disappearing over time and therefore are probably triggered by unique environmental factors. By contrast, other types persist because they are exclusively genetically determined. Given the geographical clustering and potential overlap in biological and clinical features of these exceptionally interesting diseases, this Review provides a historical reference text and offers current perspectives on each of the 10 phenotypes of endemic parkinsonism. Knowledge obtained from the study of these disease entities supports the hypothesis that both genetic and environmental factors contribute to the development of neurodegenerative diseases, not only in endemic parkinsonism but also in general. At the same time, this understanding suggests useful directions for further research in this area.
- MeSH
- Biology MeSH
- Phenotype MeSH
- Humans MeSH
- Parkinsonian Disorders * epidemiology genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Geographicals
- Europe MeSH
- Guadeloupe MeSH
Nádory appendixu a pseudomyxom peritonea (PMP) jsou vzácné. Nejčastějším zdrojem PMP jsou perforované epiteliální nádory appendixu. Toto onemocnění je charakterizováno přítomností částečně na povrchy adherujícího mucinu různého stupně konzistence. Samotné apendikální mukokély jsou taktéž velmi vzácné a zpravidla jejich léčba zahrnuje pouze prostou apendektomii. Cílem této práce bylo vytvořit aktuální přehled doporučení pro diagnostiku a léčbu těchto malignit podle aktuálních doporučení skupiny PSOGI (The Peritoneal Surface Oncology Group International) a Modré knihy České onkologické společnosti ČLS JEP.
Appendiceal tumors and pseudomyxoma peritonei (PMP) are rare tumors. Perforated epithelial tumors of the appendix are the most common source of PMP. This disease is characterized by the presence of mucin of varying degrees of consistency, partially adherent to the surfaces. Appendiceal mucoceles themselves are also very rare and usually their treatment involves only a simple appendectomy. The aim of this study was to provide an up-to-date review of the recommendations for the diagnosis and treatment of these malignancies according to the current guidelines of The Peritoneal Surface Oncology Group International (PSOGI) and the Blue Book of the Czech Society for Oncology of the Czech Medical Association of J. E. Purkyně (ČOS ČLS JEP).
- MeSH
- Hyperthermic Intraperitoneal Chemotherapy methods MeSH
- Humans MeSH
- Appendiceal Neoplasms * surgery drug therapy MeSH
- Pseudomyxoma Peritonei * surgery drug therapy MeSH
- Check Tag
- Humans MeSH
- Publication type
- Practice Guideline MeSH
- Publication type
- Meeting Abstract MeSH
BACKGROUND: Transsphenoid meningoencephalocele is a congenital anomaly formed by herniation of an ependyma delimited sac through a bony defect into the sphenoid sinus. The sac contains cerebrospinal fluid and neurovascular structures. The prevalence of transsphenoid meningoencephalocele in the adult population is rare. It usually manifests as nasal liquorrhoea. METHODS AND RESULTS: This case report presents an adult male who underwent surgery due to suspected pituitary macroadenoma. The surgery was performed endoscopically via the transnasal approach with a surprising finding of true transsphenoid meningoencephalocele. Ectopic solid tissue was found in the sphenoid sinus in which pituitary adenoma was histologically confirmed. CONCLUSION: This paper presents a previously unpublished combination of true transsphenoid meningoencephalocele and pituitary adenoma in an adult individual.
- MeSH
- Adenoma * complications pathology surgery MeSH
- Adult MeSH
- Encephalocele etiology pathology surgery MeSH
- Endoscopy methods MeSH
- Humans MeSH
- Meningocele * diagnostic imaging pathology surgery MeSH
- Pituitary Neoplasms * complications pathology surgery MeSH
- Sphenoid Sinus pathology surgery MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- Publication type
- Meeting Abstract MeSH
The understanding of neurodegenerative diseases, traditionally considered to be well-defined entities with distinguishable clinical phenotypes, has undergone a major shift over the last 20 years. The diagnosis of neurodegenerative diseases primarily requires functional brain imaging techniques or invasive tests such as lumbar puncture to assess cerebrospinal fluid. A new biological approach and research efforts, especially in vivo, have focused on biomarkers indicating underlying proteinopathy in cerebrospinal fluid and blood serum. However, due to the complexity and heterogeneity of neurodegenerative processes within the central nervous system and the large number of overlapping clinical diagnoses, identifying individual proteinopathies is relatively difficult and often not entirely accurate. For this reason, there is an urgent need to develop laboratory methods for identifying specific biomarkers, understand the molecular basis of neurodegenerative disorders and classify the quantifiable and readily available tools that can accelerate efforts to translate the knowledge into disease-modifying therapies that can improve and simplify the areas of differential diagnosis, as well as monitor the disease course with the aim of estimating the prognosis or evaluating the effects of treatment. The aim of this review is to summarize the current knowledge about clinically relevant biomarkers in different neurodegenerative diseases.
- Publication type
- Journal Article MeSH
- Review MeSH
