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Clinical Neuroscience

MARCH 30, 2021

[The importance of patient reported outcome measures in Pompe disease]

MOLNÁR Mária Judit, MOLNÁR Viktor, LÁSZLÓ Izabella, SZEGEDI Márta, VÁRHEGYI Vera, GROSZ Zoltán

[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]

Clinical Oncology

FEBRUARY 20, 2019

[Practical use of meta-analyses in predicting disease risk, outcome, and therapy response in breast cancer]


[Breast cancer is globally the most frequent malignant disease in women with increasing incidence. Meta-analyses using data from a large set of patients combining genetic and standard clinicopathological features provide valuable models in predicting disease risk, outcome and therapy response. With the advent of molecular technologies, the amount of available data generated for each tumor and each patient is growing exponentially. The increased data availability allows the development of new innovative systems enabling to discover more effective prognostic and predictive biomarkers. The goal of this review is to summarize meta-analyses that utilize data from countless patients to provide breast cancer risk prediction (Gail-model, Claus-model, BRCApro, IBIS, BOADICEA), and prediction of prognosis and expected therapy response (PREDICT, Magee). In the last part of the review we introduce online analytical tools (KMplot, ROCplot) developed to examine, rank and validate new prognostic and predictive biomarker candidates.]

Clinical Oncology

FEBRUARY 20, 2019

[Practical use of meta-analyses in predicting disease risk, outcome, and therapy response in breast cancer]

KAHÁN Zsuzsanna, TARI Gergely, ENYEDI Márton, HARACSKA Lajos

[Germinal BRCA status infl uences patient care both in early and advanced/metastatic breast cancer. Ideally, the patient should make the decision on the type of surgery or the avoidance of radiotherapy being aware of the BRCA status; based on the most recent clinical studies, this knowledge may infl uence the type of chemotherapy in the neoadjuvant, adjuvant, or metastatic setting or may raise the use of emerging targeted therapies. DNA-targeting cytostatic agents, mostly platinum agents and PARP inhibitors that act by inducing synthetic lethality, provide specifi c therapies in BRCA-mutant cases. The optimum place and sequence of these specifi c agents in treatment, however, are not known yet. International guidelines promote BRCA testing for the specifi cation of treatment strategy in all HER2-negative advanced/metastatic breast cancer cases (NCCN) or at least in all cases when, based on certain predictors, the presence of mutations is likely (ESMO). Recently, the methods employed for BRCA testing have improved immensely and are widely available through the services of various providers. For the identifi cation of the mutation, sequencing of the whole genes is needed, which can be achieved faster and more cost-effi ciently using next-generation sequencing (NGS) platforms compared to previous methods. It is the responsibility of the physician to consider the possibility of BRCA mutations and to raise the issue of BRCA testing to the patient if the family history, the age, previous malignant disease(s) of the patient, or the cancer features are suggestive of genetic risk.]

Thrombosis management

APRIL 17, 2019

Clinical Neuroscience

MARCH 30, 2019

[Prognostic factors of surgically treated spinal meningeomas and long-term surgical outcomes ]


[Introduction, the aim of article - The spinal meningeomas are one of the most common types of spinal tumors. In the treatment of spinal meningeomas, the surgical removal is the gold standard method. There are many factors that have impacts on surgical outcomes such as age, preoperative neurological condition, the extent of resection and histological grade. The aim of our article is to analyze surgical experiences, prognostic features and long-term surgical outcomes of spinal meningeomas. Patients and methods - Retrospective database of surgically treated patients with spinal meningeomas between 2008 and 2016 was made in the National Institute of Clinical Neuroscience, Budapest, Hungary. Demographic data, preoperative neurological symptoms, radiological discrepancies, pathological results (histology, grade), types of treatments and postoperative results were examined. All of our patients were followed clinically and radiologically in the postoperative courses. Results - All of the 153 patients were surgically treated. We have examined 112 women and 41 men. The average age of the patients was 65.5 years. In 98.7% of the cases, the postoperative control examinations (postoperative 6th week) showed a significant improvement in sensorial and motorial functions. The neurological improvements were evident right after the surgeries. In 2 cases (1.30%), no changes were observed in the preoperative symptoms. Recurrence was noticed in 4 cases (2.61%). Conclusion - According to our results, the spinal meningeomas can be sufficiently treated with early diagnosis and total surgical removal. Most of the patients become asymptomatic and the rate of recurrence is quite low.]

Clinical Oncology

FEBRUARY 28, 2020

[Neoadjuvant and palliative drug therapy for bladder cancer]


[The survival of patients with muscle-invasive localized bladder cancer is more favorable if they receive neoadjuvant or adjuvant cisplatin-based chemotherapy before or after cystectomy. Based on the meta-analyses, in case of neoadjuvant cisplatin-based chemotherapy, the 5-year survival benefi t is 5-16%. The outcome is even more favorable in case of patients who respond well to neoadjuvant chemotherapy (pathological complete remission rate 12–50%). More than 3 months delay of cystectomy does not signifi cantly reduce the survival if chemotherapy is performed before the operation. Results of adjuvant phase III studies and meta-analyses are not so unambiguous as neoadjuvant data, but chemotherapy seems to infl uence favorably PD-L1 expression the survival, especially in case of pT3/4 and/or N+ (and high grade or margin positivity) cases. According to the recent publications, outcome data of patients have been effective in case of progression after platinum therapy, in or after second-line and in fi rst-line therapies for cisplatin ineligible, PD-L1 positive patients, respectively. Survival and tumor response data are very promising; in particular stages, they seem to be more effective than the previously administered chemotherapies. Current and ongoing trials are investigating the combinations of new remedies with other immunotherapeutic agents or chemotherapies as well as trying to identify biomarkers in order to further increase effectiveness.]

Hypertension and nephrology

SEPTEMBER 10, 2019

[Kidney diet and the patient compliance issue ]

LADÁNYI Erzsébet

[There have been significant developments in the field of nephrology and dialysis as for the science and technology are concerned in the past decades. However, CKD patients still show high mortality and morbidity. From among the several factors determining the long-term outcome of CKD patients metabolic disorder and malnutrition play an important role. Malnutrition is often not diagnosed or is not paid enough attention to in the complex treatment of CKD patients. It is important to make both the patients and clinical staff more aware of proper nutrition and importance of prevention and treatment of malnutrition, respectively. The early diagnosis and treatment of malnutrition is of utmost importance in CKD patients. The long term renal failure and the accompanying malnutrition have a negative impact on their long term outcome and quality of life. Since the malnutrition causes a lot of complications, it is indispensable for dietitians and nephrologists to work closely together. Patient compliance is a determining factor in the successful implementation of renal diet.]