Balance control is a critical task of daily life, the ability to maintain upright posture becomes of particular concern during aging when the sensory and motor system becomes deteriorated. Falls ...contribute to the most deaths caused by injury within the aged population, and the mortality rate following a fall is drastically elevated. Longitudinal and reliable assessment of balance control abilities is a critical point in the prediction of increased risk of falling in an elderly population. The primary aim of the study was to evaluate the efficiency of the Homebalance test in the identification of persons being at higher risk of falling. 135 subjects (82 women and 53 men) with geriatric syndrome have been recruited and the Homebalance and the Tinetti Balance test were performed. Results of both tests strongly correlated proving the good performance of the Homebalance test. Standing balance declines with increasing body mass index in both genders. Analysis of fluctuations of the center of pressure (COP) revealed higher frequency and magnitude in mediolateral direction COP movements when compared women to men. A strong negative correlation has been found between Tinetti static balance score and the total length of the COP trajectory during the examination on Homebalance (r = -0.6, p<0.001). Although both methods revealed good performance in detecting balance impairment, Homebalance test possesses higher precision due to the continuous nature of COP-derived parameters. In conclusion, our data proved that the Homebalance test is capable to identify persons with impaired balance control and thus are at higher risk of falling.
Breast cancer is a complex, multifactorial disease influenced by many genetic factors. Besides the relatively rare pathogenic variants in high or moderate penetrant cancer predisposition genes, ...breast cancer risk is modified by numerous low risk alleles considered to be polygenic genetic factors. While the risks associated with individual polygenic loci are negligible, its cumulative effect can reach clinically significant values and it can be expressed as a polygenic risk score (PRS). PRS is recently considered to be a possible tool improving assessment of absolute and cumulative risks at the individual level.
Several single nucleotide polymorphism sets for PRS assessment have recently been developed and prepared for their implementation into clinical practice. The following text aims to explain the fundamental principles of the PRS assessment and its interpretation as a candidate prediction tool. The use of the PRS should always depend on genetic analysis of pathogenic variants in cancer predisposition genes including its current limitations.
Hereditary breast cancer comprises a minor but clinically meaningful breast cancer (BC) subgroup. Mutations in the major BC‐susceptibility genes are important prognostic and predictive markers; ...however, their carriers represent only 25% of high‐risk BC patients. To further characterize variants influencing BC risk, we performed SOLiD sequencing of 581 genes in 325 BC patients (negatively tested in previous BRCA1/BRCA2/PALB2 analyses). In 105 (32%) patients, we identified and confirmed 127 truncating variants (89 unique; nonsense, frameshift indels, and splice site), 19 patients harbored more than one truncation. Forty‐six (36 unique) truncating variants in 25 DNA repair genes were found in 41 (12%) patients, including 16 variants in the Fanconi anemia (FA) genes. The most frequent variant in FA genes was c.1096_1099dupATTA in FANCL that also show a borderline association with increased BC risk in subsequent analysis of enlarged groups of BC patients and controls. Another 81 (53 unique) truncating variants were identified in 48 non‐DNA repair genes in 74 patients (23%) including 16 patients carrying variants in genes coding proteins of estrogen metabolism/signaling. Our results highlight the importance of mutations in the FA genes' family, and indicate that estrogen metabolism genes may reveal a novel candidate genetic component for BC susceptibility.
Infrared thermography can be used to obtain more complete information about a patient's condition. The method can be used in various medical applications for monitoring acute and chronic orofacial ...pain syndrome. With this diagnostic method, thermal differences in the examined region are usually compared to the same reference region on the opposite side of the body.
Infrared quantitative thermography is a non-invasive method for contactless monitoring of dynamic thermal fields on a surface, or in this case, the human body. This method is based on detection of infrared radiation, which is naturally emitted from the surface of the body. In a pilot project with a patient having orofacial pain, changes before and after repetitive transcranial magnetic brain stimulation treatment were assessed.
First-day measurements found significantly higher maximum, minimum, and average temperatures, before and after therapy, in the area where the patient subjectively reported pain. The fifth and final measurements, before and after therapy, found only a slight elevation of the maximum temperature of the assessed regions, relative to the same regions on the opposite side of the face.
During the measurements on the fifth day, a thermal difference greater than 0.4°C was only observed relative to the minimum temperatures associated with the regions of self-reported pain before and after therapy. For validation of the effects, this method will need to be tested using a randomized, double-blind study with a larger number of patients.
Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on ...genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential for the clinical interpretation of genetic test results.
The aim of this study is to summarise the rules for classifying identified variants within individual laboratories and to present the process for creating a common classification. In the Czech Republic, the sharing of identified genetic variants and the development of their consensus classification among national laboratory diagnostic communities is carried out within the Czech Cancer Panel for Clinical Application (CZECANCA) consortium of scientific and diagnostic oncogenetic laboratories. Consensus for variant classification follows a defined protocol. Sharing the results and consensus classification accelerates and refines the release of genetic test results, harmonises results between laboratories and thus contributes to improving the care of individuals at high risk of cancer and their relatives.
Heterozygous carriers of germ-line mutations in the BRCA1 gene are at high risk for the development of breast and ovarian cancer. Inactivating mutations have been identified in the whole coding ...region of the gene, however, repeatedly occuring mutations can explain a large proportion of gene alterations detected in certain ethnic groups. In Czech patients, the 5382insC and 185delAG mutations may account for approximately 50% of all BRCA1 abnormalities (unpublished data). In the present study, a rapid and simple method to identify these short insertions and deletions that alter the size of the polymerase chain reaction (PCR) product is described. The analysis involves the separation of fragments amplified with primers that flank altered sites in the BRCA1 gene on non-denaturing polyacrylamide gels containing Spreadex Polymer NAB. The increased resolving power of Spreadex gels enables full separation of two DNA fragments that differ by 1-bp on gels that are 5 cm long. The method gave interpretable results with the genetic material obtained from all tested mutation carriers and control persons. Defective alleles were also detected in DNA samples from carriers of the 1135delA mutation in BRCA1 and the 4206ins4 mutation in BRCA2. These results suggest that electrophoresis on Spreadex gels can be used universally for detection of the most frequent frameshift mutations in BRCA genes. The method is suitable even for rapid screening of frequent germ-line mutations in BRCA genes in breast and ovarian cancer patients not selected for family history of cancer or age at diagnosis.
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