BACKGROUND: Ionizing radiation DNA damage is the main mechanism of radiotherapy (RT) action and the outcome of treatment and healthy tissue toxicity is influenced by a number of external and internal factors, including mutations in DNA damage recognition and repair. Disorders of DNA repair may result in increased sensitivity to cancer treatment. PURPOSE: The mechanism of DNA repair and an overview of genetic syndromes with mutations in genes involved in DNA repair clarify the accelerated carcinogenesis and increased radiosensitivity in RT cancers. Most radiosensitivity syndromes are autosomal recessively inherited; examples are ataxia teleangiectasia, Nijmegen breakage syndrome, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome and Werner syndrome. CONCLUSION: Radiotherapy is contraindicated in most homozygous patients with recessive radiosensitivity syndromes. Asymptomatic heterozygotes may have an increased risk of tumor incidence and a small part of them slightly increased risk of RT intolerance; however, this does not limit RT treatment. The high risk of secondary malignancies after radiotherapy is a contraindication to adjuvant RT in Li-Fraumeni syndrome.

• Klíčová slova
• DNA repair, radiosensitivity, radiotherapy,
• MeSH
• Cockayneův syndrom * genetika   MeSH
• lidé MeSH
• mutace MeSH
• oprava DNA genetika   MeSH
• tolerance záření genetika   MeSH
• xeroderma pigmentosum * genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Sarcopenia is the loss of skeletal muscle mass (SMM) and is associated with decreased muscle strength and/or decreased physical performance. Sarcopenia in patients with malignancies is a multifactorial problem, caused by chronic inflammation associated with malignancies, aging, nutritional deficiency, inactivity, and antineoplastic treatment. Sarcopenia is present in approximately 30-60% of patients with metastatic colorectal cancer (mCRC). It is an objective, measurable predictor of survival and systemic toxicity. The detection and quantification of sarcopenia in routine clinical practice does not require any particular test beyond routine imaging. Initial results show that regimens used to treat mCRC can have differential effect on skeletal mass. SMM tends to decrease during intensive regimens. Conversely, SMM tends to increase during low-intensity maintenance therapy or in patients with stable disease. The status of the underlying disease is another determinant of muscle mass changes, and SMM decreases during disease progression. Third-line therapy with regorafenib, a tyrosine kinase inhibitor of the vascular endothelial growth factor receptor, results in more skeletal muscle loss than trifluridine/tipiracil chemotherapy, which may have consequences for the survival or quality of life of patients. Larger prospective studies are needed to elucidate the importance of SMM changes during mCRC treatment. TB received fees for lectures and consultations related to the treatment of colorectal cancer from Merck, Amgen, Eli Lilly, Servier, Roche, Sanofi and Bayer. JH declares she has no potencional conflict of interest. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 15. 9. 2019 Accepted: 25. 10. 2019.

• Klíčová slova
• chemotherapy, colorectal carcinoma, molecular targeted therapy, sarcopenia,
• MeSH
• inhibitory proteinkinas škodlivé účinky   MeSH
• kolorektální nádory farmakoterapie   patologie   MeSH
• lidé MeSH
• protinádorové látky škodlivé účinky   MeSH
• protokoly protinádorové kombinované chemoterapie škodlivé účinky   MeSH
• sarkopenie chemicky indukované   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• inhibitory proteinkinas MeSH
• protinádorové látky MeSH

Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome recently linked to the EIF2S3 gene mutations. MEHMO is characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with MEHMO had also diabetes and endocrine phenotype, but detailed information is missing. We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. Both probands had a neonatal hypoglycemia, early onset insulin-dependent diabetes, and hypopituitarism due to dysregulation and gradual decline of peptide hormone secretion. Based on the clinical course in our two probands and also in previously published patients, neonatal hypoglycemia followed by early-onset diabetes and hypopituitarism may be a consistent part of the MEHMO phenotype.

• MeSH
• diabetes mellitus 1. typu vrozené   genetika   MeSH
• endokrinní žlázy metabolismus   MeSH
• epilepsie genetika   MeSH
• eukaryotický iniciační faktor 2 genetika   MeSH
• fenotyp MeSH
• hypoglykemie vrozené   genetika   MeSH
• hypogonadismus genetika   MeSH
• hypopituitarismus vrozené   genetika   MeSH
• lidé MeSH
• mentální retardace vázaná na chromozom X genetika   MeSH
• mikrocefalie genetika   MeSH
• novorozenec MeSH
• obezita genetika   MeSH
• pohlavní orgány abnormality   MeSH
• posunová mutace MeSH
• transkripční faktory MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• EIF2S3 protein, human MeSH Prohlížeč
• Eif2s3y protein, mouse MeSH Prohlížeč
• eukaryotický iniciační faktor 2 MeSH
• transkripční faktory MeSH

Authors introduced current possibilities of measuring intraocular pressure (IOP). A list of available methods of monitoring IOP is published; contact measurement method IOP directly on the cornea, but also over upper lid, methodology of minimal contact and non-contact measurement. Following contact methods are described; former measurements of IOP by impression Schiotz tonometer and the current methodology applanation. So far as the gold standard measurement Goldmann applanation tonometer (GAT) is considered, another methodology with applanation measurements are compared: Pascal dynamic contoured tonometer (DCT ), BioResonator - resonant applanation tonometer (ART ), digital applanation tonometer Tonopen and last hit: continuous measurement of IOP by Sensimed Triggerfish. Orientation and rapid assessment is palpation pressure control over the lid and measuring by tonometer Diaton. Rebound tonometer (RBT) iCare belongs to measurements with minimal contact, no need anesthetic drops and fluorescein, therefore a self - home version of IOP measurements (Icare ONE) is developed. Non-contact measurement of IOP by different pneumotonometers is popular for screening assessment of IOP. Reichert Ocular Response Analyzer (ORA) is a non-contact applanation IOP measurement and reveals additional properties of the cornea. In the discussion of a range methodology is evaluated, the experience of other authors and their own experience is compared. For monitoring of patients is necessary to select the most suitable methodology, measure repeatedly and accurately to allow long-term monitoring of intraocular pressure.

• MeSH
• glaukom diagnóza   patofyziologie   MeSH
• lidé MeSH
• nitrooční tlak * MeSH
• oční hypertenze diagnóza   patofyziologie   MeSH
• reprodukovatelnost výsledků MeSH
• tonometrie oční metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

INTRODUCTION: Neural tube defects represent group of congenital diseases with relatively high incidence in population. Authors assess world and Slovak literature and statistical facts about the epidemiology of NTD and compare them with their own results of retrospective study performed in Children's Hospital, Bratislava. MATERIALS AND METHODS: List of patients consists of 250 children (106 boys, 144 girls): X-ray images showing lumbo-sacral part of vertebral column were evaluated retrospectively (X-ray of native abdomen, urological tract or skeleton). Authors assessed presence or non-presence of spina bifida on images, without relation to age, gender or diagnosis of patients. RESULTS: From the total number of 250 radiograms, 72 findings were positive (36 boys and 36 girls), 160 images were negative, 18 were unsuitable for evaluation due to low image quality. The highest diagnostic capture was from urological images - 40% of all positive findings. Incidence of spina bifida in Children's Hospital concluded from X-ray images is quite high - 28.8%. CONCLUSION: According to the data from National Centre of Health Statistics the incidence of open caudal neural tube defects in Slovakia is under 5 per 10 000 live-born children at present time. However the occurrence of occult spina bifida is not known exactly. The high rate of spina bifida presented herein (28%) can be caused by relatively low number of evaluated radiograms. Also the fact that children were not only healthy ones and data were obtained from the western part of Slovakia as well. In conclusion we can say that after accidental finding of caudal neural tube defect consecutive diagnostics should be performed in clinical positive cases - genetics, MRI and consultation with specialists to decide for the optimal follow up of the patient.

• MeSH
• defekty neurální trubice diagnostické zobrazování   epidemiologie   MeSH
• lidé MeSH
• novorozenec MeSH
• prevalence MeSH
• radiografie MeSH
• spina bifida diagnostické zobrazování   epidemiologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH

No relation between the occurrence of antibodies to chlamydial agents and asthma in children was found. In asthmatic children, the antibodies to Chlamydia trachomatis occurred in 3.1% and to Chlamydophila pneumoniae in 22.7%, whereas in a control group of children without asthma or other allergic disease in 2.3% and 24.0%, respectively. The occurrence of antibodies of IgA and IgG classes to C. pneumoniae was also very similar; its rise was age-dependent. On the other hand, in the group of children in a pre-school age with respiratory tract infection, anti-chlamydial antibodies were demonstrated significantly more often (18.5% of IgG antibodies to C. trachomatis, 20.0% of IgM antibodies to both C. trachomatis and C. pneumoniae) than in those suffering from other, non-respiratory illness (3.9% of the former and 5.9% of the latter antibodies). However, in these children, we did not succeed in detection of C. trachomatis in conjunctival and nasopharyngeal smears by PCR. Nevertheless, chlamydial agents (C. trachomatis in infants, C. pneumoniae in pre-school children) should be taken into consideration in a differential diagnosis of respiratory tract inflammation.

• MeSH
• bronchiální astma imunologie   MeSH
• Chlamydia trachomatis imunologie   izolace a purifikace   MeSH
• chlamydiové infekce imunologie   MeSH
• Chlamydophila pneumoniae imunologie   izolace a purifikace   MeSH
• dítě MeSH
• ELISA MeSH
• imunoglobulin A krev   MeSH
• imunoglobulin G krev   MeSH
• imunoglobulin M krev   MeSH
• infekce dýchací soustavy imunologie   mikrobiologie   MeSH
• konjunktiva mikrobiologie   MeSH
• lidé MeSH
• mladiství MeSH
• nazofarynx mikrobiologie   MeSH
• předškolní dítě MeSH
• protilátky bakteriální krev   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• imunoglobulin A MeSH
• imunoglobulin G MeSH
• imunoglobulin M MeSH
• protilátky bakteriální MeSH

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is usually diagnosed antenatally or through the neonatal period at present. It is also used to treat and manage CDH in this date. However in rare cases CDH could be presented after finished neonatal period with non-specific and misleading symptoms. The aim of our presentation is to analyze the patients with late - presenting and diagnosed CDH. METHODS: During period 1996-2006 we operated on 54 children with CDH, 12 of them with late - presenting CDH, age variance was 9 months and 6 years. The spectrum of symptoms was from asymptomatic CDH (2 patients), mild respiratory (4 patients) and gastrointestinal symptoms (4 patients), combination of respiratory and gastrointestinal symptoms (2 patients) and finally the symptomatology of bowel incarceration (2 patients). RESULTS: Seven children presented with another associated malformations (m. Down, congenital heart failure, hydrocephalus, anorectal atresia). All 12 patients were operated on with a good results. The operation was composed of reposition of the herniated part of gastrointestinal tract (without need of resection) and diaphragmatic plastic. Two patients were reoperated on - once because of diaphragmatic relaxation and the second one due to consecutive heart operation. CONCLUSION: Congenital diaphragmatic hernia could be presented with chronic and non-specific respiratory or gastrointestinal symptoms. Time to time, presentation of diaphragmatic hernia as "acute abdomen" could be seen. The operation is indicated, also in asymptomatic patients as a prevention of life-threating events.

• MeSH
• brániční hernie diagnóza   MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• předškolní dítě MeSH
• vrozená brániční kýla * MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

PURPOSE: To correlate the analysis of the optic nerve head (ONH) obtained with Disc Damage Likelihood Scale (DDLS), Heidelberg Retina Tomograph II (HRT II), and visual field (VF) parameters (Aulhorn scale, mean deviation [MD], and pattern standard deviation [PSD]) in patients with glaucoma. METHODS: Sixty-five eyes were evaluated using the DDLS classification. Fifty-seven eyes had stable primary open-angle glaucoma (POAG) and eight eyes were normal (control group). Classification of the ONH was performed using the HRT II, with Moorfields Regression Analysis (MRA) and Cup Shape Measure (CSM) indexes. The VF was examined by Full Threshold test (30-2) using the Humphrey Field Analyzer (HFA) perimeter and evaluated by three METHODS: Aulhorn's scale of 0 to 6, and two global indices, MD and PSD. RESULTS: The amount of ONH damage as estimated by the DDLS correlated well with topographic damage determined by HRT II (r=0.923 with MRA and r=0.807 with CSM) and with visual field loss as measured by the MD (r=-0.792) and PSD (r=0.718) of the HFA and Aulhorn field staging system (r=0.849). CONCLUSIONS: This study shows that evaluation of the ONH using the DDLS provides information that correlates well with VF and with data obtained from HRT II.

• MeSH
• diagnostické techniky oftalmologické MeSH
• discus nervi optici patologie   MeSH
• dospělí MeSH
• glaukom s otevřeným úhlem diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci zrakového nervu diagnóza   MeSH
• nitrooční tlak MeSH
• poruchy zraku diagnóza   MeSH
• pravděpodobnostní funkce MeSH
• regresní analýza MeSH
• senioři MeSH
• testy zrakového pole MeSH
• tomografie metody   MeSH
• tonometrie oční MeSH
• zraková ostrost MeSH
• zraková pole * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

PURPOSE: To evaluate the possible use of HRT II and OCT 3 for detection and monitoring of glaucoma changes in the macular area. METHODS: In the retrospective study 65 eyes (13 healthy and 52 with primary open angle glaucoma) of 36 patients have been monitored. All patients underwent complete ophthalmologic examination including visual acuity testing, biomicroscopy of fundus, computer perimetry, HRT II and eleven patients were examined using OCT 3. The visual field has been tested on HFA (Humphrey Field Analyzer) using the full threshold test 30-2. Foveolar sensitivity and foveolar sensitivity compared to the age have been evaluated. The optic nerve head has been examined and subsequently evaluated using HRT II. The retinal nerve fiber layer (t-RNFL) and Cup Shape Measurement (t-CSM) in the temporal area have been monitored. The macula has been examined on OCT 3. Foveolar thickness, inner and outer macular thickness, average macular thickness and aggregate macular volume have been monitored. RESULTS: Decrease of the visual acuity and foveolar sensitivity have been registered with the deterioration of the visual field. Further general decrease of the value of t-RNFL and increase of the t-CSM index have been registered from the results of the HRT II examinations. This corresponds to decrease of the nerve fibers and excavation deepening in the temporal area. Average macular thickness and total macular volume examined on OCT 3 demonstrate aggregate decrease of values with the progressive changes in the visual field. CONCLUSION: With the progressive visual field changes with the open angle glaucoma patients occurs also deterioration of finding in the macular area. Changes discovered using the subjective examination and expressed as a slight decrease of the visual acuity as well as decrease of the foveolar sensitivity on HFA can be objectively proved using HRT II and OCT 3.

• MeSH
• discus nervi optici patologie   MeSH
• glaukom s otevřeným úhlem patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• macula lutea patologie   MeSH
• optická koherentní tomografie MeSH
• tomografie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

PURPOSE: To determine whether preoperative anatomical and functional results have an influence on the postoperative decrease in intraocular pressure (IOP) and therapy two years after trabeculectomy (TE). METHODS: In a retrospective study 40 patients (80 eyes) with primary open angle glaucoma were followed. They underwent TE with two releasable sutures on both eyes performed by the same method and the same surgeon. The preoperative and postoperative levels of IOP (as measured by the Goldmann tonometer) and therapy (according to target pressure) were compared with preoperative gonioscopy (Shaffer's scale 0-4), the excavation of the optic nerve (c/d ratio) and preoperative results of the visual field (threshold tests and Aulhorn's classification 0-V). RESULTS: The preoperative size of the angle of the anterior chamber has no expressive influence on the postoperative decrease in IOP (p = 0.079), there is an even smaller influence on decrease on therapy (p = 0.619). As well the preoperative excavation of the optic disc had no influence on the postoperative decrease in IOP (p = 0.179) and therapy (p = 0.467). There is an analogy with the visual fields; preoperative changes had no influence on the postoperative decreasee IOP (p = 0.502) and therapy (p = 0.247). CONCLUSION: Preoperative anatomical and functional status had no the influence on the success of TE.

• MeSH
• glaukom s otevřeným úhlem patofyziologie   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nitrooční tlak MeSH
• retrospektivní studie MeSH
• trabekulektomie * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH