OBJECTIVES: Although sarcopenia is recognized as one of the risk factors for increased morbidity after resection for colorectal cancer, the question of the most appropriate way to identify and quantify it is still unresolved. MATERIAL AND METHODS: This is a retrospective unicentric study following patients undergoing elective resection of the rectum for carcinoma with available staging computed tomography (CT) of the trunk. Psoas muscle density (PMD) and its area relative to patient height psoas muscle index (PMI) at the level of inferior vertebral end plate of third lumbar vertebra (L3) were assessed using an initial staging CT scan of the trunk. Post-operative complications, evaluated according to the Clavien-Dindo classification, and blood samples on post-operative days (POD) 3 and 5 were also recorded in the study population. Patients were divided into groups with complicated and uncomplicated post-operative course, and observed parameters were then statistically compared. RESULTS: The correlation of PMI values with the development of post-operative complications was not confirmed in a data set of 206 patients. PMD values were found to be borderline statistically significant in patients with complicated post-operative course, while in the group of patients with severe complications (Clavien-Dindo III-IV), there was no statistically significant difference in PMI or PMD values. The same results were obtained when comparing patients with anastomotic leak (AL). It was confirmed that operations on the lower rectum are riskier for the development of post-operative complications. The secondary objective of our study regarding serum C-reactive protein (CRP) levels of 3rd and 5th POD gave us the answer in the form of cutoff values of 115.7 mg/L (3rd POD) and 76 mg/L (5th POD). CONCLUSION: PMD appears to be a promising tool for predicting post-operative morbidity in patients after rectal resection, but a clear consensus on the method of measurement, interpretation of results and cutoff values is needed. Lower rectal resections are burdened with a higher risk of post-operative complications, especially AL. Monitoring of CRP levels remains an important marker in the prediction of AL due to its negative predictive value.
- Publikační typ
- časopisecké články MeSH
This article presents the protocol on Quality Controls in PET/CT and PET/MRI published online in May 2022 by the European Federation of Organisations for Medical Physics (EFOMP), which was developed by the Working group for PET/CT and PET/MRI Quality Control (QC) protocol. The main objective of this protocol was to comprehensively provide simple and practical procedures that may be integrated into clinical practice to identify changes in the PET/CT/MRI system's performance and avoid short- and long-term quality deterioration. The protocol describes the quality control procedures on radionuclide calibrators, weighing scales, PET, CT and MRI systems using selected and measurable parameters that are directly linked to clinical images quality. It helps to detect problems before they can impact clinical studies in terms of safety, image quality, quantification accuracy and patient radiation dose. CT and MRI QCs are described only in the context of their use for PET (attenuation correction and anatomical localization) imaging. Detailed step-by-step instructions have been provided, limiting any misinterpretations or interpersonal variations as much as possible. This paper presents the main characteristics of the protocol illustrated together with a brief summary of the content of each chapter. A regular QC based on the proposed protocol would guarantee that PET/CT and PET/MRI systems operate under optimal conditions, resulting in the best performance for routine clinical tasks.
AIMS/HYPOTHESIS: Nordic dietary patterns that are high in healthy traditional Nordic foods may have a role in the prevention and management of diabetes. To inform the update of the EASD clinical practice guidelines for nutrition therapy, we conducted a systematic review and meta-analysis of Nordic dietary patterns and cardiometabolic outcomes. METHODS: We searched MEDLINE, EMBASE and The Cochrane Library from inception to 9 March 2021. We included prospective cohort studies and RCTs with a follow-up of ≥1 year and ≥3 weeks, respectively. Two independent reviewers extracted relevant data and assessed the risk of bias (Newcastle-Ottawa Scale and Cochrane risk of bias tool). The primary outcome was total CVD incidence in the prospective cohort studies and LDL-cholesterol in the RCTs. Secondary outcomes in the prospective cohort studies were CVD mortality, CHD incidence and mortality, stroke incidence and mortality, and type 2 diabetes incidence; in the RCTs, secondary outcomes were other established lipid targets (non-HDL-cholesterol, apolipoprotein B, HDL-cholesterol, triglycerides), markers of glycaemic control (HbA1c, fasting glucose, fasting insulin), adiposity (body weight, BMI, waist circumference) and inflammation (C-reactive protein), and blood pressure (systolic and diastolic blood pressure). The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach was used to assess the certainty of the evidence. RESULTS: We included 15 unique prospective cohort studies (n=1,057,176, with 41,708 cardiovascular events and 13,121 diabetes cases) of people with diabetes for the assessment of cardiovascular outcomes or people without diabetes for the assessment of diabetes incidence, and six RCTs (n=717) in people with one or more risk factor for diabetes. In the prospective cohort studies, higher adherence to Nordic dietary patterns was associated with 'small important' reductions in the primary outcome, total CVD incidence (RR for highest vs lowest adherence: 0.93 [95% CI 0.88, 0.99], p=0.01; substantial heterogeneity: I2=88%, pQ<0.001), and similar or greater reductions in the secondary outcomes of CVD mortality and incidence of CHD, stroke and type 2 diabetes (p<0.05). Inverse dose-response gradients were seen for total CVD incidence, CVD mortality and incidence of CHD, stroke and type 2 diabetes (p<0.05). No studies assessed CHD or stroke mortality. In the RCTs, there were small important reductions in LDL-cholesterol (mean difference [MD] -0.26 mmol/l [95% CI -0.52, -0.00], pMD=0.05; substantial heterogeneity: I2=89%, pQ<0.01), and 'small important' or greater reductions in the secondary outcomes of non-HDL-cholesterol, apolipoprotein B, insulin, body weight, BMI and systolic blood pressure (p<0.05). For the other outcomes there were 'trivial' reductions or no effect. The certainty of the evidence was low for total CVD incidence and LDL-cholesterol; moderate to high for CVD mortality, established lipid targets, adiposity markers, glycaemic control, blood pressure and inflammation; and low for all other outcomes, with evidence being downgraded mainly because of imprecision and inconsistency. CONCLUSIONS/INTERPRETATION: Adherence to Nordic dietary patterns is associated with generally small important reductions in the risk of major CVD outcomes and diabetes, which are supported by similar reductions in LDL-cholesterol and other intermediate cardiometabolic risk factors. The available evidence provides a generally good indication of the likely benefits of Nordic dietary patterns in people with or at risk for diabetes. REGISTRATION: ClinicalTrials.gov NCT04094194. FUNDING: Diabetes and Nutrition Study Group of the EASD Clinical Practice.
- MeSH
- apolipoproteiny MeSH
- cévní mozková příhoda * MeSH
- cholesterol MeSH
- diabetes mellitus 2. typu * epidemiologie MeSH
- HDL-cholesterol MeSH
- inzuliny * MeSH
- kardiovaskulární nemoci * MeSH
- LDL-cholesterol MeSH
- lidé MeSH
- obezita MeSH
- prospektivní studie MeSH
- randomizované kontrolované studie jako téma MeSH
- tělesná hmotnost MeSH
- zánět MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- systematický přehled MeSH
- 10 Další ektatická onemocnění rohovky Pavel Studený .131 -- 10.1 Pelucidní marginální degenerace (PMD
Jessenius
144 stran : ilustrace, tabulky ; 24 cm
Publikace se zaměřuje na keratokonus, jeho patologii, patofyziologii, diagnostiku i léčbu. Určeno odborné veřejnosti.
- Konspekt
- Ortopedie. Chirurgie. Oftalmologie
- NLK Obory
- oftalmologie
- NLK Publikační typ
- kolektivní monografie
BACKGROUND: We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome. The aggregate data from 159 sequenced join-points (discontinuous sequences in the reference genome that are joined during the rearrangement process) were studied. Analysis of these data from 150 individuals enabled the spectrum and relative distribution of the underlying genomic mutational signatures to be delineated. METHODS: Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array or clinical chromosomal microarray analysis and breakpoint junction sequence analysis. RESULTS: High-density customized array showed that the majority of cases (33/50; ~ 66%) present with single duplications, although complex genomic rearrangements (CGRs) are also frequent (17/50; ~ 34%). Breakpoint mapping to nucleotide resolution revealed further previously unknown structural and sequence complexities, even in single duplications. Meta-analysis of all studied rearrangements that occur at the PLP1 locus showed that single duplications were found in ~ 54% of individuals and that, among all CGR cases, triplication flanked by duplications is the most frequent CGR array CGH pattern observed. Importantly, in ~ 32% of join-points, there is evidence for a mutational signature of microhomeology (highly similar yet imperfect sequence matches). CONCLUSIONS: These data reveal a high frequency of CGRs at the PLP1 locus and support the assertion that replication-based mechanisms are prominent contributors to the formation of CGRs at Xq22. We propose that microhomeology can facilitate template switching, by stabilizing strand annealing of the primer using W-C base complementarity, and is a mutational signature for replicative repair.
- MeSH
- body zlomu chromozomu MeSH
- duplikace genu MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- genom lidský MeSH
- genomika metody MeSH
- genová přestavba * MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- mutace * MeSH
- myelinový proteolipidový protein genetika MeSH
- nestabilita genomu MeSH
- srovnávací genomová hybridizace MeSH
- variabilita počtu kopií segmentů DNA * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
The publication presents a comparative study of two fibre-optic sensors in the application of heart rate (HR) and respiratory rate (RR) monitoring of the human body. After consultation with clinical practitioners, two types of non-invasive measuring and analysis systems based on fibre Bragg grating (FBG) and fibre-optic interferometer (FOI) have been designed and assembled. These systems use probes (both patent pending) that have been encapsulated in the bio-compatible polydimethylsiloxane (PMDS). The main advantage of PDMS is that it is electrically non-conductive and, as well as optical fibres, has low permeability. The initial verification measurement of the system designed was performed on four subjects in a harsh magnetic resonance (MR) environment under the supervision of a senior radiology assistant. A follow-up comparative study was conducted, upon a consent of twenty volunteers, in a laboratory environment with a minimum motion load and discussed with a head doctor of the Radiodiagnostic Institute. The goal of the laboratory study was to perform measurements that would simulate as closely as possible the environment of harsh MR or the environment of long-term health care facilities, hospitals and clinics. Conventional HR and RR measurement systems based on ECG measurements and changes in the thoracic circumference were used as references. The data acquired was compared by the objective Bland−Altman (B−A) method and discussed with practitioners. The results obtained confirmed the functionality of the designed probes, both in the case of RR and HR measurements (for both types of B−A, more than 95% of the values lie within the ±1.96 SD range), while demonstrating higher accuracy of the interferometric probe (in case of the RR determination, 95.66% for the FOI probe and 95.53% for the FBG probe, in case of the HR determination, 96.22% for the FOI probe and 95.23% for the FBG probe).
- MeSH
- artefakty MeSH
- dechová frekvence fyziologie MeSH
- dospělí MeSH
- elektrokardiografie MeSH
- fonokardiografie MeSH
- interferometrie přístrojové vybavení MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské tělo MeSH
- magnetická rezonanční tomografie * MeSH
- mladý dospělý MeSH
- optická vlákna MeSH
- optické jevy * MeSH
- počítačové zpracování signálu MeSH
- pohyb těles MeSH
- srdeční frekvence fyziologie MeSH
- technologie optických vláken přístrojové vybavení MeSH
- vlnková analýza MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
Práce se zabývá porovnáním topografických rohovkových indexů a jejich významem pro diagnostiku rohovkových ektatických onemocnění. Do souboru byly zahrnuty rohovky s různými stádii keratokonu, frustní formou keratokonu, pellucidní marginální degenerací, corneal warpage syndromem a byly porovnávány s rohovkami s fyziologickými parametry, s různou hodnotou pravidelného astigmatismu. Studie probíhala v letech 2015–2018 na Evropské oční klinice Lexum Brno. Zkoumaný soubor obsahuje 208 očí, z toho 111 očí s keratokonem, 31 očí s frustní formou keratokonu, 23 očí s pellucidní marginální degenerací, 10 očí s corneal warpage syndromem a 33 očí fyziologických. U těchto ektatických onemocnění bylo sledováno 19 rohovkových parametrů, které byly porovnávány se souborem zdravých rohovek s pravidelným astigmatismem. Ke statistické analýze byl použit jednofaktorový ANOVA test, Studentův t-test a pro porovnání korelace Pearsonovy korelační koeficienty. Ve všech sledovaných tomografických parametrech byl nalezen statisticky významný rozdíl mezi fyziologickou a ektatickou skupinou rohovek. Mezi parametry s nejvyšší hodnotou statistické diference patřily indexy BEThLo, ISV, IHD, D, Rmin. Byly nalezeny statisticky významné indexy i mezi frustní formou keratokonu a fyziologickými rohovkami. Mezi nejlepší parametry pro detekci subklinické formy keratokonu patřila hodnota zadní elevace v nejtenším místě rohovky (BEThLo), hodnota rozdílu mezi nejtenčím a centrálním místem rohovky (CP–TL), maximální index pachymetrické progrese a indexy Db a D (p < 0,000). Nejvhodnější parametry pro sledování progrese KK v naší studii patřily indexy ISV, KI, IVA, Df, D, Dp, Db, BEThLo a hodnoty minimálního zakřivení Rmin. Všechny tyto parametry vykázaly silnou míru korelace (r > 0,6) dle Pearsonva korelačního koeficientu. Statisticky nejvýznamnější rozdíly ve skupině KK a PMD byly nalezeny u indexu relativní pachymetrie, centrální pachymetrie, CKI a Dp.
The thesis deals with comparison of topographic corneal indexes and their importance for the diagnosis of corneal ectatic disease. The corneas with different stages of keratoconus, forme fruste keratoconus, pellucid marginal degeneration, corneal warpage syndrome, and physiological cornea with varying values of regular astigmatism were included in the tested group. The study was conducted in 2015–2018 at the European Eye Clinic Lexum Brno. The study group contained 208 eyes, 111 eyes with keratoconus, 31 eyes with forme fruste keratoconus, 23 eyes with pellucid marginal degeneration, 10 eyes with corneal warpage syndrome and 33 physiological eyes. 19 corneal parameters and indexes were monitored for these ectatic diseases, which were compared with healthy corneas with regular astigmatism. A single-factor ANOVA test, a Student t-test were used for statistical analysis. Pearson's coefficients were used to assess the correlation. In all the observed tomographic parameters a statistically significant difference was found between the physiological and ectatic group of corneas. The parameters with the highest statistical difference were BEThLo, ISV, IHD, D, Rmin. Statistically significant indices were also found between the forme fruste keratoconus and physiological corneas. The best parameters for detecting the subclinical keratoconus were the back elevation at the thinniest point of the cornea (BEThLo), the difference between the thinniest and the central point of cornea (CP-TL), the maximum pachymetic progression index and the Db and D indexes (p < 0.000). The most suitable parameters for the KK progression monitoring in our study were the ISV, KI, IVA, Df, D, Dp, Db, BEThLo and Rmin. All these parameters showed a strong correlation rate (r> 0.6) according to Pearson's correlation coefficient. Statistically significant differences in the KK and PMD groups were found in the index of relative pachymetry, central pachymetry, CKI and Dp.
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product. An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. We show that a homology-or homeology-driven replicative mechanism of DNA repair can apparently mediate template switches within stretches of microhomology. Moreover, we provide evidence that quadruplication and potentially higher order amplification of a genomic interval can occur in a manner consistent with rolling circle amplification as predicted by the microhomology-mediated break induced replication (MMBIR) model.
- MeSH
- body zlomu chromozomu MeSH
- chromozomální inverze MeSH
- duplikace genu * MeSH
- genová dávka MeSH
- lidé MeSH
- myelinový proteolipidový protein genetika MeSH
- Pelizaeusova-Merzbacherova nemoc genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5' splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutant or normal protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We investigated the ability of sequences throughout PLP1 intron 3 to regulate alternative splicing using a splicing minigene construct transfected into the oligodendrocyte cell line, Oli-neu. Our data reveal that the alternative splice of PLP1 is regulated by a long-distance interaction between two highly conserved elements that are separated by 581 bases within the 1071-base intron 3. Further, our data suggest that a base-pairing secondary structure forms between these two elements, and we demonstrate that mutations of either element designed to destabilize the secondary structure decreased the PLP1/DM20 ratio, while swap mutations designed to restore the structure brought the PLP1/DM20 ratio to near normal levels. Sequence analysis of intron 3 in families with clinical symptoms of PMD who did not have coding-region mutations revealed mutations that segregated with disease in three families. We showed that these patient mutations, which potentially destabilize the secondary structure, also reduced the PLP1/DM20 ratio. This is the first report of patient mutations causing disease by disruption of a long-distance intronic interaction controlling alternative splicing. This finding has important implications for molecular diagnostics of PMD.
- MeSH
- alternativní sestřih * MeSH
- buněčné linie MeSH
- introny * MeSH
- konformace nukleové kyseliny MeSH
- lidé MeSH
- messenger RNA chemie metabolismus MeSH
- molekulární modely MeSH
- mutace MeSH
- myelinový proteolipidový protein genetika metabolismus MeSH
- oligodendroglie metabolismus MeSH
- párování bází MeSH
- Pelizaeusova-Merzbacherova nemoc genetika MeSH
- rodokmen MeSH
- sekvenční analýza DNA MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
The purpose of study was to analyze clinical and genetic polymorphism of Duchenne/Becker progressive muscular dystrophies among patients with neuromuscular diseases in Uzbekistan. 106 male patients with progressive pseudohypertrophic forms of muscular dystrophy were retrospectively and prospectively analyzed in the period from 2004 till 2014: 93 patients with Duchenne PMD aged from 3 years to 18 years and 13 patients with Becker PMD aged from 10 years to 25 years, who had been examined in the medico-genetic consulting department of the Republican Center “Mother and Child Screening” of Tashkent city. Comprehensive clinical, neurophysiological, biochemical and genetic study of patients as the integral part in the differential diagnosis of Duchenne/Becker progressive muscular dystrophies allows creating the national database on D/B PMD to prevent the birth of children in families burdened by this disease.
- MeSH
- biologické markery MeSH
- databáze faktografické MeSH
- dítě MeSH
- dospělí MeSH
- Duchennova muskulární dystrofie * diagnóza epidemiologie genetika prevence a kontrola MeSH
- elektromyografie statistika a číselné údaje MeSH
- fenotyp MeSH
- genetické testování statistika a číselné údaje MeSH
- geny vázané na chromozom X MeSH
- kohortové studie MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- svalová síla MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Geografické názvy
- Uzbekistán MeSH
