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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.]

Clinical Oncology

DECEMBER 10, 2018

[Treatment of head and neck cancer]

KATONA Csilla, LANDHERR László

[Head and neck cancers cause worldwide a signifi cant problem in health care systems. Despite great advances in therapeutic modalities its prognosis has not changed in the past few decades. It is mainly caused by classical risk factors, like alcohol consumption and smoking, but in a signifi cant number of oropharyngeal cancers HPV infection plays a major role, which is associated with a new patient group characterized by a much better prognosis and therapeutic response. In the diagnostic phase staging examinations (CT scan, MRI, FDG-PET) are also involved which are necessary to multidisciplinary decision making. It can be largely infl uenced by the patient’s preference. The therapy is based on multimodality approach; surgery, radiotherapy, chemoirradiation, chemotherapy and the combination of these are used in early or locally advanced tumours. Targeted agents like EGFR inhibitors are partly used in the recurrent/metastatic setting or in combination with radiotherapy. Immun checkpoint inhibitors are new therapeutic options for pretreated, recurrent/metastatic patients and their role is under investigation in earlier therapeutic lines. Several clinical trials aim treatment desintensifi cation strategies in HPV positive tumours. Molecular genetic tests try to defi ne subgroups of patients to plan individualized treatment. Regarding the signifi cant functional and aesthetic damage of both disease and treatment, supportive care and rehabilitation are of great importance.]

Clinical Oncology

DECEMBER 10, 2018

[PI3K–AKT–mTOR pathway as a therapeutic target]

KOPPER László

[The PI3K-AKT-mTOR is one of the most busy signalling pathway, accepting and sending the message to the effector compartment. The pathway is very complex with activators (see the name), and inhibitors, as PTEN. Depending of the cell type this pathway participates in almost all functions of a given cell. The members of the pathway may have genetic failures, as a consequence, the risk for the development of different diseases, including cancer is high. Therefore it is logical to produce drugs to inhibit the dysregulated function. Unfortunately, despite the promising preclinical effectivity, so far only 4 drugs can be used to treat cancer patients. There are some hypothesis for the in effectivity, e.g. no useful marker for patient selection, high toxicity, false drivers for targeting. What is sure, combination therapy is much better than monotherapy]

Lege Artis Medicinae

DECEMBER 10, 2019

[Explorative statistical analysis of numerous blood tests’ metabolic panel with rank-correlation ]

BRYS Zoltán, NAGY Erzsébet, MAGYAR Gábor, MOLNÁR D. László, KIS János Tibor

[INTRODUCTION AND AIM - During rou­tine blood panel testing, large amounts of bio­medical data are collected in Hungary and in all over the world. The aim of our - ethically approved - exploratory medical data analysis was to examine whether the analysis of correlations among several variables in a real-life, non-random blood panel data leads to meaningful results. DATA AND METHODS - In a retrospective study 2,292,199 anonymous routine blood panel data points were analyzed. Rank correlation was used between variables with more than 10,000 data points and strong (|ϱ|>0.5, p<0.001) relationships were visualized and interpreted. RESULTS - Similar laboratory values, effects of diseases affecting the same organ, as well as well-known medical interrelationships were shown between the examined laboratory parameter-pairs. DISCUSSION - Our exploratory data analysis shows that despite the non-random nature of the big blood panel sample, well-known medical correlations were very well detectable. Based on the results further re­search - with the inclusion of additional variables - seems reasonable and meaningful with due caution.]

Clinical Neuroscience

NOVEMBER 30, 2019

[Tracing trace elements in mental functions]

JANKA Zoltán

[Trace elements are found in the living organism in small (trace) amounts and are mainly essential for living functions. Essential trace elements are in humans the chromium (Cr), cobalt (Co), copper (Cu), fluorine (F), iodine (I), iron (Fe), manganese (Mn), molybdenum (Mo), selenium (Se), zinc (Zn), and questionably the boron (B) and vanadium (V). According to the biopsychosocial concept, mental functions have biological underpinnings, therefore the impairment of certain neurochemical processes due to shortage of trace elements may have mental consequences. Scientific investigations indicate the putative role of trace element deficiency in psychiatric disorders such in depression (Zn, Cr, Se, Fe, Co, I), premenstrual dysphoria (Cr), schizophrenia (Zn, Se), cognitive deterioration/de­mentia (B, Zn, Fe, Mn, Co, V), mental retardation (I, Mo, Cu), binge-eating (Cr), autism (Zn, Mn, Cu, Co) and attention deficit hyperactivity disorder (Fe). At the same time, the excess quantity (chronic exposure, genetic error) of certain trace elements (Cu, Mn, Co, Cr, Fe, V) can also lead to mental disturbances (depression, anxiety, psychosis, cognitive dysfunction, insomnia). Lithium (Li), being efficacious in the treatment of bipolar mood disorder, is not declared officially as a trace element. Due to nutrition (drinking water, food) the serum Li level is about a thousand times less than that used in therapy. However, Li level in the red cells is lower as the membrane sodium-Li countertransport results in a Li efflux. Nevertheless, the possibility that Li is a trace element has emerged as studies indicate its potential efficacy in such a low concentration, since certain geographic regions show an inverse correlation between the Li level of drinking water and the suicide rate in that area. ]

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.]

Hypertension and nephrology

SEPTEMBER 10, 2019

[Serum uric acid level in hypertension. Domestic experience based on the data of the Hungarian Hypertension Registry 2011., 2013. and 2015. Part III. - Relation of uric acid to clinical and laboratory characteristics]

KÉKES Ede, PAKSY András, ALFÖLDI Sándor

[2013. and 2015, we examined the correlation between the serum uric acid level and blood pressure, target blood pressure, prevalence of ISH and other diseases associated to high blood pressure used trend analysis and linear regression in 22,668 hypertensive men (mean age 60.8 years) and 24,684 hypertensive women (mean age 64.1 years). We have extended the correlation analysis to metabolic factors (BMI, abdominal circumference, lipid profile, blood sugar) and kidney function. Significant correlation was found between SH level and systolic and diastolic blood pressure as well as target blood pressure. There was a significant correlation between SH level and metabolic parameters (abdominal circumference, BMI, total cholesterol, HDL cholesterol, triglyceride, fasting blood sugar) and in hyperuricemia the prevalence of metabolic syndrome was higher. As the level of SH increases, the prevalence of hypertension-related KVB, ISZB and diabetes have increased. The closest correlation between uric acid levels and chronic kidney disease was in women and between the uric acid levels and ischemic heart disease in men. ur analysis supports the international declaration that hyperuricemia is an independent cardiovascular, metabolic and renal risk factor.]

Clinical Neuroscience

JULY 30, 2019

Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation

KALMÁR Tibor, MARÓTI Zoltán, VADVÁRI Árpád, HALMOSI Ágnes, KÁLOVITS Ferenc, KÁLMÁN Bernadette

Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits. Her mother had a hemorrhaged cavernoma surgically removed 21 years ago. Cranial magnetic resonance imaging revealed multiple cavernous malformations in the size of a few millimeters and the ophthalmologic exam detected retinal blood vessel tortuosity in the proband. Targeted exome sequencing analysis identified a nonsense mutation in exon 16 of the KRIT1 gene, which resulted in a premature stop codon and a truncated protein underlying the abnormal development of cerebral and retinal blood vessels. This mutation with pathogenic significance has been reported before. Our case points to the importance of a thorough clinical and molecular work up despite the uncertain neurological complaints, since life style recommendations, imaging monitoring and genetic counseling may have major significance in the long term health of the patient.

Hypertension and nephrology

JUNE 20, 2019

[Hyperuricemia in hypertension. Domestic experience based on the data of the Hungarian Hypertonia Register 2011., 2013., 2015. Part II.]

ALFÖLDI Sándor, PAKSY András, KÉKES Ede

[Asymptomatic hyperuricemia is frequent in hypertension and its prevalence is increasing. Authors studied the incidence of serum uric acid levels and its correlation with age, risk factors, anthropological, metabolic characteristics, blood pressure, blood pressure target, organ damage, age-related co-morbidity in 47,372 hypertensive patients (22,688 males, 24,694 women). In the second part of their analysis the prevalence of hyperuricemia was 13.8% in hypertensive men and 21.6% in women. The age, BMI, waist diameter, systolic and diastolic blood pressure and onset of hypertension, serum cholesterol, triglyceride, blood glucose and serum creatinine were slightly higher, but serum HDL cholesterol and eGFR were slightly lower in hyperuricemic hypertensive patients, independently of their gender. Among hypertension mediated organ damage ischemic and left ventricular hypertensive ECG alterations, mild chronic kidney disease and proteinuria, among hypertension associated diseases diabetes associated ischemic heart disease, chronic kidney disease associated diabetes and both ischemic and chronic kidney disease associated diabetes were significantly more frequent in hyperuricemic hypertensive patients.]

Lege Artis Medicinae

MAY 20, 2019

[Physical inactivity and activity. Damage and benefit]

KÉKES Ede, APOR Péter

[Authors address the issue of inadequate physical activity worldwide and analyze their relationship with cardiovascular diseases and total mortality. In the inactivity "world map" it can be seen that in economically developed countries it is very common but other ethnic and regional factors also play a role and it is significantly more frequent at women. In our country this phenomenon due to combination of advanced civilization and computerization is also frequent. From 2000 to 2015, the trend of the presence of physical inactivity (FI) in the high income populations is steadily rising. Convincing evidence suggests that FI increases the risk of many common, serious diseases, including ischaemic heart disease, type 2 diabetes, breast cancer and colon carcinoma, and reduces the life expectancy. For these four diaseses, the incidence of FI occurs in about 1/3 of cases and 35% of total mortality. Its health value (PAF) ranges from 10 to 18%. Low (non-regular) exercise increases the risk of hypertension with or without family history. In subjects with moderate and intensive levels of physical activity (FA), there is a significantly lower mortality rate and the rate of occurrence of major cardiovasculars (CV) diseases compared to those with lower grade FA. Behind the positive effect of physical activity there is a multiple and complicated mechanism that manifests itself in the vascular system, in the physiological adaptation of the heart and in other metabolic and cellular effects. ]