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1.
BMC Cancer ; 24(1): 736, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38879476

RESUMO

BACKGROUND: Glioblastoma (GBM) is the most common and aggressive primary brain cancer. The treatment of GBM consists of a combination of surgery and subsequent oncological therapy, i.e., radiotherapy, chemotherapy, or their combination. If postoperative oncological therapy involves irradiation, magnetic resonance imaging (MRI) is used for radiotherapy treatment planning. Unfortunately, in some cases, a very early worsening (progression) or return (recurrence) of the disease is observed several weeks after the surgery and is called rapid early progression (REP). Radiotherapy planning is currently based on MRI for target volumes definitions in many radiotherapy facilities. However, patients with REP may benefit from targeting radiotherapy with other imaging modalities. The purpose of the presented clinical trial is to evaluate the utility of 11C-methionine in optimizing radiotherapy for glioblastoma patients with REP. METHODS: This study is a nonrandomized, open-label, parallel-setting, prospective, monocentric clinical trial. The main aim of this study was to refine the diagnosis in patients with GBM with REP and to optimize subsequent radiotherapy planning. Glioblastoma patients who develop REP within approximately 6 weeks after surgery will undergo 11C-methionine positron emission tomography (PET/CT) examinations. Target volumes for radiotherapy are defined using both standard planning T1-weighted contrast-enhanced MRI and PET/CT. The primary outcome is progression-free survival defined using RANO criteria and compared to a historical cohort with REP treated without PET/CT optimization of radiotherapy. DISCUSSION: PET is one of the most modern methods of molecular imaging. 11C-Methionine is an example of a radiolabelled (carbon 11) amino acid commonly used in the diagnosis of brain tumors and in the evaluation of response to treatment. Optimized radiotherapy may also have the potential to cover those regions with a high risk of subsequent progression, which would not be identified using standard-of-care MRI for radiotherapy planning. This is one of the first study focused on radiotherapy optimization for subgroup of patinets with REP. TRIAL REGISTRATION: NCT05608395, registered on 8.11.2022 in clinicaltrials.gov; EudraCT Number: 2020-000640-64, registered on 26.5.2020 in clinicaltrialsregister.eu. Protocol ID: MOU-2020-01, version 3.2, date 18.09.2020.


Assuntos
Neoplasias Encefálicas , Progressão da Doença , Glioblastoma , Metionina , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/diagnóstico , Radioisótopos de Carbono , Glioblastoma/diagnóstico por imagem , Glioblastoma/terapia , Glioblastoma/diagnóstico , Glioblastoma/radioterapia , Imageamento por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Estudos Prospectivos , Compostos Radiofarmacêuticos/uso terapêutico , Planejamento da Radioterapia Assistida por Computador/métodos
2.
Medicina (Kaunas) ; 57(12)2021 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-34946279

RESUMO

Background and Objectives: The treatment of gastroesophageal junction (GEJ) adenocarcinoma consists of either perioperative chemotherapy or preoperative chemoradiotherapy. Radiotherapy (RT) in the neoadjuvant setting is associated with a higher probability of resections with negative margins (R0) and better tumor regression rate, which might be enhanced by incrementing RT dose with potential impact on treatment results. This virtual planning study demonstrates the feasibility of increasing the dose to GEJ tumor and involved nodes using PET/CT imaging. Materials and Methods: 16 patients from the chemoradiotherapy arm of the phase II GastroPET study were treated by a prescribed dose of 45.0 Gray (Gy) in 25 fractions. PET/CT was performed before treatment. The prescribed dose was virtually boosted on PET/CT-positive areas to 54.0 Gy by 9 Gy in 5 fractions. Dose-volume histograms (DVH) were compared, and normal tissue complication (NTCP) modeling was performed for both dose schedules. Results: DVHs were exceeded in mean heart dose in one case for 45.0 Gy and two cases for 54.0 Gy, peritoneal space volume criterion V45Gy < 195 ccm in three cases for 54.0 Gy and V15Gy < 825 ccm in one case for both dose schedules. The left lung volume of 25 Gy isodose exceeded 10% in most cases for both schedules. The NTCP values for the heart, spine, liver, kidneys and intestines were zero for both schemes. An increase in NTCP value was for lungs (median 3.15% vs. 4.05% for 25 × 1.8 Gy and 25 + 5 × 1.8 Gy, respectively, p = 0.013) and peritoneal space (median values for 25 × 1.8 Gy and 25 + 5 × 1.8 Gy were 3.3% and 14.25%, respectively, p < 0.001). Conclusion: Boosting PET/CT-positive areas in RT of GEJ tumors is feasible, but prospective trials are needed.


Assuntos
Adenocarcinoma , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/terapia , Quimiorradioterapia , Junção Esofagogástrica/diagnóstico por imagem , Humanos , Estudos Prospectivos , Planejamento da Radioterapia Assistida por Computador
3.
Biomedicines ; 10(10)2022 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-36289742

RESUMO

Pancreatic cancer is the third leading cause of cancer death in the developed world and is predicted to become the second by 2030. A cure may be achieved only with surgical resection of an early diagnosed disease. Surgery for more advanced disease is challenging and can be contraindicated for many reasons. Neoadjuvant therapy may improve the probability of achieving R0 resection. It consists of systemic treatment followed by radiation therapy applied concurrently or sequentially with cytostatics. A novel approach to irradiation, stereotactic body radiotherapy (SBRT), has the potential to improve treatment results. SBRT can deliver higher doses of radiation to the tumor in only a few treatment fractions. It has attracted significant interest for pancreatic cancer patients, as it is completed quickly, requires less time away from full-dose chemotherapy, and is well-tolerated than conventional radiotherapy. In this review, we aim to provide the reader with a basic overview of current evidence for SBRT indications in the treatment of pancreatic tumors. In the second part of the review, we focus on practical information with respect to SBRT treatment plan preparation the performance of such therapy. Finally, we discuss future directions related to the use of magnetic resonance linear accelerators.

4.
Epilepsia ; 52(5): 932-40, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21453360

RESUMO

PURPOSE: Stereotactic radiofrequency amygdalohippocampectomy (SAHE) has been modified recently in our center for the therapy of mesial temporal epilepsy (MTLE). It has promising clinical results comparable with microsurgical amygdalohippocampectomy despite smaller volume reduction of the hippocampus. We hypothesized that the extent of perirhinal and entorhinal cortex (PRC, EC) reduction could explain the clinical outcome. Therefore, we performed, retrospectively, volumetric analysis of PRC and EC and compared it with the seizure control. METHODS: Twenty-six consecutive patients with MTLE treated by SAHE were included. PRC and EC volumes were measured from magnetic resonance imaging (MRI) records obtained before and 1 year after SAHE. The clinical outcome was assessed each year after SAHE using Engel's classification. KEY FINDINGS: Twenty-six patients were analyzed. The volume of PRC decreased by 46 ± 17% (p < 10(-12) ); EC volume decreased by 56 ± 20% (p < 10(-10) ). Two years after the procedure, 73% of patients were classified as Engel's I, 19% as Engel's II; in 2 (8%) the treatment failed (were reoperated). Eighteen patients finished 3 years follow-up; 72% of them were classified as Engel's I, 17% as Engel's II, and in 2 (11%) above-mentioned patients the treatment failed. Thirteen patients finished 4 years of follow-up, 11 of them as Engel's I. There was no significant correlation of the clinical outcome to PRC and EC volume reductions. SIGNIFICANCE: The clinical effect of SAHE is not clearly explained by the volume reductions of PRC and EC (nor of the hippocampus and the amygdala). It promotes opinion that the extent of resection/destruction is not important for seizure outcomes.


Assuntos
Tonsila do Cerebelo/cirurgia , Córtex Entorrinal/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/cirurgia , Radiocirurgia/métodos , Adolescente , Adulto , Tonsila do Cerebelo/patologia , Mapeamento Encefálico , Eletrocoagulação/métodos , Córtex Entorrinal/patologia , Epilepsia do Lobo Temporal/patologia , Feminino , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Radiocirurgia/instrumentação , Resultado do Tratamento
5.
Cas Lek Cesk ; 150(4-5): 260-72, 2011.
Artigo em Tcheco | MEDLINE | ID: mdl-21634206

RESUMO

The article summarizes basic facts about classification, clinical presentation, EEG diagnostics and treatment of nonconvulsive status epilepticus.


Assuntos
Estado Epiléptico , Encéfalo/patologia , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Estado Epiléptico/diagnóstico , Estado Epiléptico/terapia
6.
Cas Lek Cesk ; 150(4-5): 278-82, 2011.
Artigo em Tcheco | MEDLINE | ID: mdl-21634208

RESUMO

The epilepsies are a frequent group of neurologic disorders. We have witnessed significant advances in their medical treatment recently. About 70 % of newly diagnosed patients are rendered seizure-free. Antiepileptic drug treatment has become more complex. The choice of antiepileptic drug is based on seizure type. However, special patient's needs (drug tolerability, toxicity, ease of use and cost and age, sex and commorbidities) should be considered. The article deals with these special situations. In case of seizure persistence epilepsy surgery could be an option.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Epilepsia/diagnóstico , Humanos
7.
Cas Lek Cesk ; 150(4-5): 254-9, 2011.
Artigo em Tcheco | MEDLINE | ID: mdl-21634205

RESUMO

Temporal lobe epilepsy is the most common type of focal epilepsy diagnosed in adult patients. According to the location of seizure generation it is classified as mesial temporal lobe epilepsy and neocortical lateral lobe epilepsy. Diagnosis of temporal lobe epilepsy can be proved by the combination of the clinical manifestation of partial complex seizures, scalp-video EEG monitoring, results of magnetic resonance imaging (MRI) and imaging of interictal fluoro-deoxy-glucose positron emission tomography. Mesial temporal sclerosis is the most common finding on MRI. Temporal lobe epilepsy is the most surgically amenable diagnosis and results of surgery treatments are clearly superior to the prolonged medical therapy; surgical treatment of the mesial temporal epilepsy with mesial temporal sclerosis has the best clinical results. Except for standard microsurgical approaches such as anterior temporal resection and selective amygdalo-hippocampectomy, stereotactic thermocoagulation amygdalo-hippocampectomy is provided in our epilepsy centre. This alternative approach has comparable clinical outcome to the standard surgery approaches in 2 years clinical follow-ups. MRI is important not only in diagnostic procedures, but also in neuronavigation of surgery approaches, per operation control of the extent of resections and postoperative follow-ups, especially in failed epilepsy surgery.


Assuntos
Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/cirurgia , Imageamento por Ressonância Magnética , Procedimentos Neurocirúrgicos , Adulto , Humanos , Técnicas Estereotáxicas
8.
Stereotact Funct Neurosurg ; 88(1): 42-50, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20051709

RESUMO

We compared stereotactic radiofrequency amygdalohippocampectomy (SAHE) with microsurgical amygdalohippocampectomy (AHE) in a group of 33 patients with mesial temporal lobe epilepsy in terms of hippocampal and amygdalar volume reductions and clinical outcome. In 23 subjects treated by SAHE, the hippocampal volume decreased by 58.0% (20.0; median, quartile range), with p = 10(-4), and the amygdalar volume decreased by 55.2% (23.8), with p = 10(-4). Two years after SAHE, 74% of patients were classified as class I, 22% as class II and 4% as class III. In 10 subjects treated by AHE, 83.5% (11.2) of the hippocampal and 53.1% (53.9) of the amygdalar volumes were removed (p = 0.05 and p = 0.005, respectively). Two years after the operation, 50% of the subjects were classified as class I, 30% as class II and 10% as class III and IV. To conclude, SAHE leads to a similar reduction of the amygdalar volume but to a significantly lower reduction of the hippocampal volume than AHE. The clinical outcome of SAHE is comparable with that of AHE.


Assuntos
Tonsila do Cerebelo/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/cirurgia , Microcirurgia/métodos , Radiocirurgia/métodos , Adulto , Tonsila do Cerebelo/patologia , Eletroencefalografia , Feminino , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Estatísticas não Paramétricas , Resultado do Tratamento
9.
Acta Neurochir (Wien) ; 152(8): 1291-8, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20361215

RESUMO

PURPOSE: Minimally invasive percutaneous single trajectory stereotactic radiofrequency amygdalohippocampectomy was used to treat mesial temporal lobe epilepsy (MTLE). The aim of the study was to evaluate complications and effectiveness of this procedure. MATERIALS AND METHODS: A group of 51 patients with MTLE was treated using stereotactic thermo-lesion of amygdalohippocampal complex under local anaesthesia. The target was reached through the occipital approach with a single trajectory using MRI stereotactic localisation. Thermocoagulation of the amygdalohippocampal complex was planned according to the individual anatomy of each patient. Amygdalohippocampectomy was performed using a string electrode with a 10-mm active tip, and 16-38 lesions (median = 25) were performed in all patients along the 30- to 45-mm trajectory (median = 35) in the amygdalohippocampal complex. RESULTS: The procedure was well tolerated by all patients with no severe permanent morbidity; meningitis was recorded in two patients (4%), hematoma was detected in four patients, clinically insignificant in three of them, and one patient required temporary ventricular drainage (2%). Thirty-two patients were followed up over at least 2 years, and the clinical outcomes were evaluated by Engel's classification; 25 of them (78%) were Engel I, five (16%) were Engel II, and two (6%) were Engel IV. CONCLUSIONS: Stereotactic amygdalohippocampectomy is a minimally invasive procedure with low morbidity and good results that can be the method of choice in selected patients with MTLE.


Assuntos
Tonsila do Cerebelo/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/cirurgia , Radiocirurgia/métodos , Adolescente , Adulto , Idoso , Tonsila do Cerebelo/patologia , Tonsila do Cerebelo/fisiopatologia , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Hipocampo/patologia , Hipocampo/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Radiocirurgia/efeitos adversos , Radiocirurgia/instrumentação , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
10.
Klin Onkol ; 33(2): 114-122, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32303132

RESUMO

BACKGROUND: The aim of this retrospective study is to evaluate the efficacy and toxicity of extracranial stereotactic radiotherapy for the treatment of oligometastatic lymph node involvement in the mediastinum, retroperitoneum, and pelvis in a consecutive group of patients from real clinical practice. MATERIAL AND METHODS: Of a total of 50 patients treated between 2011 and 2017, 29 were men and 21 were women, and the mean age was 62 years (median 66 years, range 25-81 years). Patients were most often irradiated in five fractions; the dose was selected according to dose-volume histograms of organs-at-risk in proximity to the planning target volume. The primary objectives were local control (LC), progression-free survival (PFS), time to multiple dissemination not allowing the use of local treatment methods (freedom from widepread dissemination - FFWD), and overall survival (OS). Acute and delayed toxicity were evaluated as well. RESULTS: The median dose equivalent at α/β = 10 (BED10) was 54 Gy (range 48-80 Gy). The median follow-up period was 40.4 months. LC after irradiation was 90% in 1 year and 75% in 3 years. Median time to local progression was not achieved. Patients irradiated with a high dose had significantly better LC than patients irradiated with a low dose; the cut-off was the median of the applied dose (ie BED10 = 54 Gy). Pathological node localization had no significant effect on LC. The median PFS was 8.2 months (95% CI 7.4-11.6 months). PFS in 1 year was 38.5% and 17% in 3 years. The median OS was 37.3 months (95% CI 23.2-51.4 months). One-year OS was 83% and 3-year OS was 51%. The median FFWD was 13.6 months (range 8.7-18.5 months). The one-year FFWD was 55% and the 3-year FFWD was 24%. None of these parameters (PFS, OS, FFWD) was dose or localization dependent. No grade III or IV toxicity was reported. CONCLUSION: Our study shows that targeted stereotactic radiotherapy is a very effective low toxic treatment for oligometastatic lymph node involvement. It can delay cytotoxic chemotherapy and thus improve/maintain the quality of life of patients. Approximately one fifth of patients treated with extracranial stereotactic radiotherapy for oligometastatic lymph node involvement survived without signs of disease for prolonged periods. Future studies should aim at identifying patients who would benefit most from this treatment, adjusting the timing of extracranial stereotactic radiotherapy depending on the treatment strategy, and optimizing the dose prescription. This work was supported by grant of the Ministry of Health of the Czech Republic AZV 19-00354 and by grant of the Ministry of Health of the Czech Republic - Conceptual development of a research organization (MMCI 00209805). 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 recommendation for biomedical papers.


Assuntos
Irradiação Linfática , Metástase Linfática/radioterapia , Radiocirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
11.
Front Oncol ; 10: 616494, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33614499

RESUMO

AIMS: To evaluate the efficacy and toxicity of extracranial stereotactic body radiotherapy (SBRT) in the treatment of oligometastatic lymph node involvement in the mediastinum, retroperitoneum, or pelvis, in a consecutive group of patients from real clinical practice outside clinical trials. METHODS: A retrospective analysis of 90 patients with a maximum of four oligometastases and various primary tumors (the most common being colorectal cancers). The endpoints were local control of treated metastases (LC), freedom from widespread dissemination (FFWD), progression-free survival (PFS), overall survival (OS), and freedom from systemic treatment (FFST). Acute and delayed toxicities were also evaluated. RESULTS: The median follow-up after SBRT was 34.9 months. The LC rate at three and five years was 68.4 and 56.3%, respectively. The observed median FFWD was 14.6 months, with a five-year FFWD rate of 33.7%. The median PFS was 9.4 months; the three-year PFS rate was 19.8%. The median FFST was 14.0 months; the five-year FFST rate was 23.5%. The OS rate at three and five years was 61.8 and 39.3%, respectively. Median OS was 53.1 months. The initial dissemination significantly shortened the time to relapse, death, or activation of systemic treatment-LC (HR 4.8, p < 0.001), FFWD (HR 2.8, p = 0.001), PFS (HR 2.1, p = 0.011), FFST (HR 2.4, p = 0.005), OS (HR 2.2, p = 0.034). Patients classified as having radioresistant tumors noticed significantly higher risk in terms of LC (HR 13.8, p = 0.010), FFWD (HR 3.1, p = 0.006), PFS (HR 3.5, p < 0.001), FFST (HR 3.2, p = 0.003). The multivariable analysis detected statistically significantly worse survival outcomes for initially disseminated patients as well as separately in groups divided according to radiosensitivity. No grade III or IV toxicity was reported. CONCLUSION: Our study shows that targeted SBRT is a very effective and low toxic treatment for oligometastatic lymph node involvement. It can delay the indication of cytotoxic chemotherapy and thus improve and maintain patient quality of life. The aim of further studies should focus on identifying patients who benefit most from SBRT, as well as the correct timing and dosage of SBRT in treatment strategy.

12.
Case Rep Oncol ; 13(1): 233-238, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32308582

RESUMO

Postoperative management of patients with brain metastases is controversial. Besides local control, cognitive function and quality of life are the most important outcomes of postoperative radiotherapy. In this case report, we introduce a patient with aggressive recurred solid metastasis treated with repeated surgery and an individual radiotherapy approach in order to highlight that close mutual collaboration leads to a clear benefit for our patients. The local targeted radiotherapy with 35 Gy in 10 fractions was performed with the volumetric modulated arc technique, leading to more than 2.5 years of local control and survival without any of the side effects usually attributed to whole brain radiotherapy.

13.
Artigo em Inglês | MEDLINE | ID: mdl-31544900

RESUMO

BACKGROUND AND AIM: Oncologists play a vital role in the interpretation of radiographic results in glioblastoma patients. Molecular pathology and information on radiation treatment protocols among others are all important for accurate interpretation of radiology images. One important issue that may arise in interpreting such images is the phenomenon of tumor "pseudoprogression"; oncologists need to be able to distinguish this effect from true disease progression.Exact knowledge about the location of high-dose radiotherapy region is needed for valid determination of pseudoprogression according to RANO (Response Assessment in Neuro-Oncology) criteria in neurooncology. The aim of the present study was to evaluate the radiologists' understanding of a radiotherapy high-dose region in routine clinical practice since radiation oncologists do not always report 3-dimensional isodoses when ordering follow up imaging. METHODS: Eight glioblastoma patients who underwent postresection radiotherapy were included in this study. Four radiologists worked with their pre-radiotherapy planning MR, however, they were blinded to RT target volumes which were defined by radiation oncologists according to current guidelines. The aim was to draw target volume for high dose RT fields (that is the region, where they would consider that there may be a pseudoprogression in future MRI scans). Many different indices describing structure differences were analyzed in comparison with original per-protocol RT target volumes. RESULTS: The median volume for RT high dose field was 277 ccm (range 218 to 401 ccm) as defined per protocol by radiation oncologist and 87 ccm (range 32-338) as defined by radiologists (median difference of paired difference 31%, range 15-112%). The Median Dice index of similarity was 0.46 (range 0.14 - 0.78), the median Hausdorff distance 25 mm. CONCLUSION: Continuing effort to improve education on specific procedures in RT and in radiology as well as automatic tools for exporting RT targets is needed in order to increase specificity and sensitivity in response evaluation.


Assuntos
Neoplasias Encefálicas/radioterapia , Simulação por Computador/normas , Glioblastoma/fisiopatologia , Glioblastoma/radioterapia , Glioblastoma/cirurgia , Doses de Radiação , Radioterapia (Especialidade)/normas , Adulto , Progressão da Doença , Feminino , Humanos , Colaboração Intersetorial , Masculino , Pessoa de Meia-Idade , Radio-Oncologistas
14.
Am J Med Genet A ; 149A(7): 1365-74, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19514047

RESUMO

Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3' UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. We report on the identification of multiple patients with different patterns of CCG and CTC interruptions in the DMPK CTG repeat tract that display unique intergenerational instability. In patients bearing interrupted expanded alleles, the location of the interruptions changed dramatically between generations and the repeats tended to contract. The phenotype for these patients corresponded to the classical form of the disease, but in some cases without muscular dystrophy and possibly with a later onset than expected. Symptomatic patients bearing interrupted intermediate length repeat tracts were also identified, although the role of the interruptions in their phenotype remains unclear. The identification of interruptions in the DMPK repeat has important consequences for molecular genetic testing where they can lead to false negative conclusions.


Assuntos
Deleção de Genes , Proteínas Serina-Treonina Quinases/genética , Repetições de Trinucleotídeos/genética , Adulto , Sequência de Bases , Estudos de Casos e Controles , Análise Mutacional de DNA , Família , Feminino , Frequência do Gene , Instabilidade Genômica/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Miotonina Proteína Quinase , Linhagem , Adulto Jovem
15.
Seizure ; 18(4): 269-74, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19081273

RESUMO

We performed a retrospective, multicenter, open-label study to evaluate the efficacy of vagus nerve stimulation (VNS) in all patients in the Czech Republic who have received this treatment for at least 5 years (n=90). The mean last follow-up was 6.6+/-1.1 years (79+/-13 months). The median number of seizures among all patients decreased from 41.2 seizures/month in the prestimulation period to 14.9 seizures/month at 5 years follow-up visit. The mean percentage of seizure reduction was 55.9%. The responder rate in these patients is in concordance with the decrease of overall seizure frequency. At 1 year after beginning the stimulation, 44.4% of patients were responders; this percentage increased to 58.7% after 2 years. At the 5 years last follow-up 64.4% of patients were responders, 15.5% experienced > or = 90% seizure reduction, and 5.5% were seizure-free. A separate analysis of patients younger than 16 years of age showed lower efficacy rates of VNS in comparison to the whole group. Complications and chronic adverse effects occurred in 13.3% of patients. VNS is an effective and safe method to refractory epilepsy in common clinical practice.


Assuntos
Epilepsia/terapia , Estimulação do Nervo Vago/métodos , Adolescente , Criança , Pré-Escolar , República Tcheca/epidemiologia , Humanos , Estudos Longitudinais , Medição da Dor , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
16.
Epileptic Disord ; 9 Suppl 1: S68-74, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18319203

RESUMO

OBJECTIVES: Minimally invasive procedures for treating temporal lobe epilepsy have been investigated recently, namely stereotactic and gamma knife amygdalohippocampectomy (AHE). However, the results are not fully satisfactory. Our aim was to evaluate efficacy and side-effects of stereotactic AHE mimicking the neurosurgical procedure in terms of extent of the lesion. METHODS: 16 consecutive patients were assessed using VEEG, MRI, FDG-PET and WADA test. All had definite pharmacoresistant medial temporal lobe epilepsy. The stereotactic AHE was performed on the Leksell stereotactic system. All lesions exceeded 40 mm along the long axis of the hippocamus. RESULTS: Seizure outcome was favourable on one year follow-up: 12 patients (75%) were seizure-free (Engel I), three (19%) were Engel II, and one (6%) was Engel III. Side-effects were mild, lasting up to 7 days: cephalea, meningeal syndrome with sterile CSF in three subjects, and CSF leak lasting up to 3 days in seven subjects. CONCLUSION: Stereotactic AHE encompassing sufficient volume of the amygdalohippocampal complex appears to be safe, effective, and free from long-term side-effects.


Assuntos
Tonsila do Cerebelo/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/cirurgia , Procedimentos Neurocirúrgicos , Adulto , Tonsila do Cerebelo/metabolismo , Tonsila do Cerebelo/patologia , Resistência a Medicamentos , Epilepsia do Lobo Temporal/metabolismo , Epilepsia do Lobo Temporal/patologia , Feminino , Fluordesoxiglucose F18 , Hipocampo/metabolismo , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Técnicas Estereotáxicas
17.
PLoS One ; 12(11): e0188795, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29190749

RESUMO

BACKGROUND AND AIMS: Understanding the consequences of polyploidization is a major step towards assessing the importance of this mode of speciation. Most previous studies comparing different cytotypes, however, did so only within a single environment and considered only one group of traits. To take a step further, we need to explore multiple environments and a wide range of traits. The aim of this study was to assess response of diploid and autotetraploid individuals of Knautia arvensis (Dipsacaceae) to two stress conditions, shade or drought. METHODS: We studied eleven photosynthetic, morphological and fitness parameters of the plants over three years in a common garden under ambient conditions and two types of stress. KEY RESULTS: The results indicate strong differences in performance and physiology between cytotypes in ambient conditions. Interestingly, higher fitness in diploids contrasted with more efficient photosynthesis in tetraploids in ambient conditions. However, stress, especially drought, strongly reduced fitness and disrupted function of the photosystems in both cytotypes reducing the between cytotype differences. The results indicate that drought stress reduced function of the photosynthetic processes in both cytotypes but particularly in tetraploids, while fitness reduction was stronger in diploids. CONCLUSIONS: The photosynthesis related traits show higher plasticity in polyploids as theoretically expected, while the fitness related traits show higher plasticity in diploids especially in response to drought. This suggests that between cytotype comparisons need to consider multiple traits and multiple environments to understand the breath of possible responses of different cytotypes to stress. They also show that integrating results based on different traits is not straightforward and call for better mechanistic understanding of the relationships between species photosynthetic activity and fitness. Still, considering multiple environments and multiple species traits is crucial for understanding the drivers of niche differentiation between cytotypes in future studies.


Assuntos
Pradaria , Fenômenos Fisiológicos Vegetais , Estresse Fisiológico
18.
Artigo em Inglês | MEDLINE | ID: mdl-28731074

RESUMO

AIMS: Unilateral sparing of the dominant (left) hippocampus during whole brain radiotherapy (WBRT) could mitigate cognitive decline, especially verbal memory, similar to the widely investigated bilateral hippocampus avoidance (HA-WBRT). The aim of this planning study is dosimetrical comparison of HA-WBRT with only left hippocampus sparing (LHA-WBRT) plans. METHODS: HA-WBRT plans for 10 patients were prepared in accordance with RTOG 0933 trial and served as baseline for comparisons with several LHA-WBRT plans prepared with an effort: 1) to maintain the same left hippocampus dosimetry ("BEST PTV") and 2) to maintain same dosimetry in planning target volume as in HA-WBRT ("BEST LH"). RESULTS: All HA-WBRT plans met RTOG 0933 protocol criteria with a mean Conformity index 1.09 and mean Homogeneity index (HI) 0.21. Mean right and left hippocampal D100% was 7.8 Gy and 8.5 Gy and mean Dmax 14.0 Gy and 13.8 Gy, respectively. "BEST PTV" plans reduced HI by 31.2% (P=0.005) which is mirrored by lower PTV_D2% (-0.8 Gy, P=0.005) and higher PTV_D98% (+1.3 Gy, P=0.005) as well as decreased optic pathway's Dmax by 1 Gy. In "BEST LH", mean D100% and Dmax for the left hippocampus were significantly reduced by 11.2% (P=0.005) and 10.9% (P=0.005) respectively. CONCLUSIONS: LHA-WBRT could improve target coverage and/or further decrease in dose to spared hippocampus. Future clinical trials must confirm whether statistically significant reduction in left hippocampal dose is also clinically significant.


Assuntos
Neoplasias Encefálicas/radioterapia , Hipocampo , Planejamento da Radioterapia Assistida por Computador , Neoplasias Encefálicas/secundário , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tratamentos com Preservação do Órgão , Órgãos em Risco , Doses de Radiação , Dosagem Radioterapêutica , Estudos Retrospectivos
19.
Pediatr Neurol ; 27(5): 388-91, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12504208

RESUMO

We present a patient with early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome) with an excellent response to chloral hydrate to draw attention to a possible role of the "old" drug in the treatment of intractable epilepsy. Chloral hydrate (58 mg/kg/day) was used for a short-term administration in a 5-week-old female with typical features of cryptogenic Ohtahara syndrome after the failure of conventional antiepileptic drugs. Seizures disappeared in the course of 24 hours after the launch of chloral hydrate therapy and have not recurred. Results of electroencephalogram studies of the child demonstrate marked improvement. Psychomotor development is significantly delayed. Detailed diagnostic tests have not revealed any metabolic or structural abnormalities of the brain. We conclude that chloral hydrate could be useful in the treatment of severe epileptic encephalopathies. Possible indications of the drug for intractable epilepsy treatment are discussed.


Assuntos
Hidrato de Cloral/uso terapêutico , Hipnóticos e Sedativos/uso terapêutico , Doenças do Recém-Nascido/tratamento farmacológico , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Anticonvulsivantes/uso terapêutico , Quimioterapia Combinada , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Transtornos Psicomotores/complicações , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/tratamento farmacológico , Convulsões/complicações , Síndrome , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Vigabatrina/uso terapêutico
20.
Radiat Oncol ; 9: 139, 2014 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-24935286

RESUMO

The goal of this review is to summarize the rationale for and feasibility of hippocampal sparing techniques during brain irradiation. Radiotherapy is the most effective non-surgical treatment of brain tumors and with the improvement in overall survival for these patients over the last few decades, there is an effort to minimize potential adverse effects leading to possible worsening in quality of life, especially worsening of neurocognitive function. The hippocampus and associated limbic system have long been known to be important in memory formation and pre-clinical models show loss of hippocampal stem cells with radiation as well as changes in architecture and function of mature neurons. Cognitive outcomes in clinical studies are beginning to provide evidence of cognitive effects associated with hippocampal dose and the cognitive benefits of hippocampal sparing. Numerous feasibility planning studies support the feasibility of using modern radiotherapy systems for hippocampal sparing during brain irradiation. Although results of the ongoing phase II and phase III studies are needed to confirm the benefit of hippocampal sparing brain radiotherapy on neurocognitive function, it is now technically and dosimetrically feasible to create hippocampal sparing treatment plans with appropriate irradiation of target volumes. The purpose of this review is to provide a brief overview of studies that provide a rationale for hippocampal avoidance and provide summary of published feasibility studies in order to help clinicians prepare for clinical usage of these complex and challenging techniques.


Assuntos
Neoplasias Encefálicas/radioterapia , Irradiação Craniana , Hipocampo/efeitos da radiação , Tratamentos com Preservação do Órgão , Planejamento da Radioterapia Assistida por Computador , Humanos , Prognóstico , Dosagem Radioterapêutica
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